Incidental Mutation 'R2113:Nbeal2'
| ID |
232801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbeal2
|
| Ensembl Gene |
ENSMUSG00000056724 |
| Gene Name |
neurobeachin-like 2 |
| Synonyms |
1110014F23Rik |
| MMRRC Submission |
040117-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R2113 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110453857-110483229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110454474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 2685
(T2685A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035069]
[ENSMUST00000133191]
[ENSMUST00000167320]
[ENSMUST00000196488]
[ENSMUST00000196735]
[ENSMUST00000196876]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035069
|
| SMART Domains |
Protein: ENSMUSP00000035069
Gene: ENSMUSG00000032491
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
Pfam:Death
|
143 |
222 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129095
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130024
AA Change: T1973A
|
| SMART Domains |
Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
AA Change: T1973A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
248 |
N/A |
INTRINSIC |
|
Pfam:DUF4704
|
345 |
607 |
2.5e-29 |
PFAM |
|
low complexity region
|
649 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
819 |
N/A |
INTRINSIC |
|
Pfam:DUF4800
|
872 |
1138 |
9.9e-113 |
PFAM |
|
low complexity region
|
1164 |
1193 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
1204 |
1291 |
2.2e-21 |
PFAM |
|
Beach
|
1343 |
1623 |
5.2e-205 |
SMART |
|
WD40
|
1721 |
1766 |
1.03e1 |
SMART |
|
WD40
|
1769 |
1808 |
6.19e-5 |
SMART |
|
WD40
|
1820 |
1859 |
1.02e-5 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131017
AA Change: T1014A
|
| SMART Domains |
Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724
AA Change: T1014A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4800
|
1 |
209 |
7.5e-97 |
PFAM |
|
low complexity region
|
235 |
264 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
275 |
362 |
1e-21 |
PFAM |
|
Beach
|
414 |
694 |
5.2e-205 |
SMART |
|
WD40
|
762 |
807 |
1.03e1 |
SMART |
|
WD40
|
810 |
849 |
6.19e-5 |
SMART |
|
WD40
|
861 |
900 |
1.02e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133191
AA Change: T2685A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: T2685A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
578 |
818 |
5.9e-8 |
PFAM |
|
low complexity region
|
1014 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1128 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1375 |
N/A |
INTRINSIC |
|
low complexity region
|
1515 |
1530 |
N/A |
INTRINSIC |
|
low complexity region
|
1621 |
1647 |
N/A |
INTRINSIC |
|
low complexity region
|
1875 |
1904 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
1908 |
2002 |
6.2e-28 |
PFAM |
|
Beach
|
2054 |
2334 |
5.2e-205 |
SMART |
|
WD40
|
2432 |
2477 |
1.03e1 |
SMART |
|
WD40
|
2480 |
2519 |
6.19e-5 |
SMART |
|
WD40
|
2531 |
2570 |
1.02e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167320
AA Change: T2692A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: T2692A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
775 |
N/A |
INTRINSIC |
|
Pfam:DUF4704
|
872 |
1148 |
9.2e-32 |
PFAM |
|
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1382 |
N/A |
INTRINSIC |
|
low complexity region
|
1522 |
1537 |
N/A |
INTRINSIC |
|
Pfam:DUF4800
|
1590 |
1856 |
1.5e-112 |
PFAM |
|
low complexity region
|
1882 |
1911 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
1922 |
2009 |
3.1e-21 |
PFAM |
|
Beach
|
2061 |
2341 |
5.2e-205 |
SMART |
|
WD40
|
2439 |
2484 |
1.03e1 |
SMART |
|
WD40
|
2487 |
2526 |
6.19e-5 |
SMART |
|
WD40
|
2538 |
2577 |
1.02e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196488
AA Change: T2658A
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: T2658A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
551 |
791 |
5.3e-6 |
PFAM |
|
low complexity region
|
987 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1109 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1332 |
1348 |
N/A |
INTRINSIC |
|
low complexity region
|
1488 |
1503 |
N/A |
INTRINSIC |
|
low complexity region
|
1594 |
1620 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1877 |
N/A |
INTRINSIC |
|
Pfam:PH_BEACH
|
1881 |
1975 |
3.1e-25 |
PFAM |
|
Beach
|
2027 |
2307 |
3.8e-209 |
SMART |
|
WD40
|
2405 |
2450 |
6.3e-2 |
SMART |
|
WD40
|
2453 |
2492 |
3.8e-7 |
SMART |
|
WD40
|
2504 |
2543 |
6.5e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196735
|
| SMART Domains |
Protein: ENSMUSP00000143785
Gene: ENSMUSG00000032491
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
Pfam:Death
|
143 |
200 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196876
|
| SMART Domains |
Protein: ENSMUSP00000142925
Gene: ENSMUSG00000032491
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice exhibit megakaryocyte and platelet abnormalities resulting in impaired arterial thrombus formation and protection from infarction following cerebral ischemia. Wound repair is impaired. These abnormalities result in a bleeding disorder similiar to Gray Platelet Syndrome. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 127 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
C |
A |
12: 84,655,790 (GRCm39) |
G295* |
probably null |
Het |
| Acad9 |
T |
C |
3: 36,128,525 (GRCm39) |
Y129H |
probably damaging |
Het |
| Actn4 |
C |
T |
7: 28,597,549 (GRCm39) |
G608D |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,458,100 (GRCm39) |
N300K |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,157,245 (GRCm39) |
I269V |
probably benign |
Het |
| Afap1l2 |
G |
A |
19: 56,901,821 (GRCm39) |
A842V |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,461,154 (GRCm39) |
K101* |
probably null |
Het |
| Alg10b |
T |
A |
15: 90,109,860 (GRCm39) |
W58R |
probably damaging |
Het |
| Alpk2 |
C |
T |
18: 65,438,754 (GRCm39) |
E1347K |
probably benign |
Het |
| Amotl2 |
G |
T |
9: 102,601,922 (GRCm39) |
E389* |
probably null |
Het |
| Ap5m1 |
G |
A |
14: 49,323,705 (GRCm39) |
R465Q |
probably damaging |
Het |
| Apoa1 |
A |
C |
9: 46,140,512 (GRCm39) |
S48R |
probably damaging |
Het |
| Asb1 |
T |
C |
1: 91,471,950 (GRCm39) |
L34P |
probably damaging |
Het |
| Atg14 |
C |
T |
14: 47,788,781 (GRCm39) |
A191T |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
| Atrnl1 |
C |
T |
19: 57,744,048 (GRCm39) |
Q1217* |
probably null |
Het |
| Bltp2 |
T |
C |
11: 78,159,598 (GRCm39) |
V549A |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,992,085 (GRCm39) |
H1222Q |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,945,552 (GRCm39) |
V169E |
probably damaging |
Het |
| Cbx4 |
C |
T |
11: 118,972,718 (GRCm39) |
G219E |
probably damaging |
Het |
| Ccdc136 |
C |
T |
6: 29,413,031 (GRCm39) |
T406I |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,715,669 (GRCm39) |
Y2117F |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,411,299 (GRCm39) |
Q295L |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,794,783 (GRCm39) |
V272A |
probably benign |
Het |
| Cgn |
A |
T |
3: 94,687,116 (GRCm39) |
V62D |
probably damaging |
Het |
| Ckap4 |
T |
G |
10: 84,369,387 (GRCm39) |
Q115P |
possibly damaging |
Het |
| Clec10a |
T |
C |
11: 70,060,650 (GRCm39) |
|
probably null |
Het |
| Clmn |
A |
T |
12: 104,747,067 (GRCm39) |
S827T |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,466,658 (GRCm39) |
S187P |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,116,095 (GRCm39) |
I526F |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,202,140 (GRCm39) |
Q329R |
probably benign |
Het |
| Col1a1 |
T |
A |
11: 94,839,188 (GRCm39) |
S979T |
unknown |
Het |
| Crat |
T |
A |
2: 30,292,654 (GRCm39) |
Y606F |
probably benign |
Het |
| Cyp2c29 |
G |
T |
19: 39,318,708 (GRCm39) |
C396F |
probably damaging |
Het |
| Cyp2d34 |
G |
T |
15: 82,501,817 (GRCm39) |
P231Q |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,430,591 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,679,473 (GRCm39) |
H501Q |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,488,098 (GRCm39) |
I1001V |
probably damaging |
Het |
| Dnase2a |
T |
A |
8: 85,637,500 (GRCm39) |
C301S |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,584,280 (GRCm39) |
D142V |
probably damaging |
Het |
| Dpp8 |
G |
A |
9: 64,971,150 (GRCm39) |
C590Y |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,317 (GRCm39) |
M6707K |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,167,735 (GRCm39) |
V1006A |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,596,420 (GRCm39) |
S1623P |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,694,015 (GRCm39) |
D1011E |
probably damaging |
Het |
| Epc2 |
T |
A |
2: 49,422,235 (GRCm39) |
D376E |
probably benign |
Het |
| Eps8 |
C |
A |
6: 137,514,633 (GRCm39) |
|
probably null |
Het |
| F11 |
T |
C |
8: 45,699,869 (GRCm39) |
T406A |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,911,082 (GRCm39) |
D1640A |
probably damaging |
Het |
| Fbxo15 |
A |
T |
18: 84,977,230 (GRCm39) |
R47S |
probably benign |
Het |
| Fbxo28 |
A |
T |
1: 182,157,490 (GRCm39) |
V109E |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,665,323 (GRCm39) |
S931R |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,697,185 (GRCm39) |
D9G |
probably damaging |
Het |
| Frem2 |
G |
A |
3: 53,560,343 (GRCm39) |
T1388I |
probably damaging |
Het |
| Fstl3 |
C |
A |
10: 79,617,012 (GRCm39) |
T185N |
probably damaging |
Het |
| Glo1 |
A |
T |
17: 30,823,014 (GRCm39) |
Y49* |
probably null |
Het |
| Gtsf2 |
T |
C |
15: 103,348,100 (GRCm39) |
M137V |
probably benign |
Het |
| Gzmk |
C |
T |
13: 113,310,489 (GRCm39) |
G110S |
probably benign |
Het |
| Hdac9 |
G |
T |
12: 34,439,331 (GRCm39) |
S428R |
probably damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,432,694 (GRCm39) |
T456I |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,284,565 (GRCm39) |
H172L |
probably damaging |
Het |
| Itgb8 |
A |
C |
12: 119,154,347 (GRCm39) |
L230R |
probably damaging |
Het |
| Klf9 |
C |
T |
19: 23,142,052 (GRCm39) |
R171W |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,282,812 (GRCm39) |
P1050Q |
probably damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,484 (GRCm39) |
F67L |
unknown |
Het |
| Maml3 |
T |
A |
3: 51,598,077 (GRCm39) |
Y223F |
probably damaging |
Het |
| Mcm9 |
C |
T |
10: 53,491,943 (GRCm39) |
|
probably null |
Het |
| Mettl3 |
A |
G |
14: 52,532,441 (GRCm39) |
*104Q |
probably null |
Het |
| Msrb3 |
T |
A |
10: 120,687,985 (GRCm39) |
D30V |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,457,512 (GRCm39) |
T1562A |
probably damaging |
Het |
| Nat14 |
T |
C |
7: 4,927,038 (GRCm39) |
V70A |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,469,327 (GRCm39) |
D128G |
probably damaging |
Het |
| Nfam1 |
T |
A |
15: 82,899,202 (GRCm39) |
K155* |
probably null |
Het |
| Noc4l |
A |
T |
5: 110,798,425 (GRCm39) |
M255K |
possibly damaging |
Het |
| Nolc1 |
GCA |
GCAACA |
19: 46,069,800 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGGAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nprl2 |
T |
C |
9: 107,422,511 (GRCm39) |
S334P |
probably benign |
Het |
| Nsrp1 |
A |
G |
11: 76,937,396 (GRCm39) |
S267P |
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,480,701 (GRCm39) |
M142L |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,194,113 (GRCm39) |
C139* |
probably null |
Het |
| Nup210l |
A |
T |
3: 90,098,281 (GRCm39) |
N1411I |
possibly damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,753 (GRCm39) |
L192P |
probably damaging |
Het |
| Or5ak24 |
T |
G |
2: 85,260,430 (GRCm39) |
T248P |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 128,115,018 (GRCm39) |
T579S |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,721,584 (GRCm39) |
D1071E |
possibly damaging |
Het |
| Pi4k2a |
T |
A |
19: 42,103,510 (GRCm39) |
I340N |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,703,185 (GRCm39) |
D917V |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,106,066 (GRCm39) |
F821Y |
probably damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,984,625 (GRCm39) |
R189H |
probably benign |
Het |
| Ptpn18 |
T |
A |
1: 34,510,742 (GRCm39) |
S235R |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,044,460 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
T |
G |
14: 33,678,014 (GRCm39) |
I654S |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,027,539 (GRCm39) |
L321P |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,374,722 (GRCm39) |
M1028K |
probably benign |
Het |
| Ruvbl1 |
T |
A |
6: 88,460,003 (GRCm39) |
V221D |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,073,527 (GRCm39) |
|
probably null |
Het |
| Scn7a |
C |
T |
2: 66,506,312 (GRCm39) |
D1526N |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,314,774 (GRCm39) |
F218S |
possibly damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,146,176 (GRCm39) |
M1185K |
probably damaging |
Het |
| Slain1 |
C |
A |
14: 103,888,282 (GRCm39) |
D67E |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,833,724 (GRCm39) |
D115G |
probably benign |
Het |
| Sowaha |
G |
A |
11: 53,369,789 (GRCm39) |
R316C |
probably damaging |
Het |
| Spata17 |
A |
T |
1: 186,830,108 (GRCm39) |
F309I |
possibly damaging |
Het |
| Spmip7 |
G |
A |
11: 11,440,293 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
G |
T |
2: 84,873,350 (GRCm39) |
|
probably null |
Het |
| St6gal1 |
C |
G |
16: 23,147,167 (GRCm39) |
T225S |
probably damaging |
Het |
| Sulf1 |
C |
G |
1: 12,918,398 (GRCm39) |
F38L |
probably damaging |
Het |
| Tbc1d7 |
G |
A |
13: 43,306,562 (GRCm39) |
T138M |
probably damaging |
Het |
| Tdpoz4 |
T |
A |
3: 93,704,351 (GRCm39) |
M216K |
probably damaging |
Het |
| Tmem200a |
A |
G |
10: 25,869,220 (GRCm39) |
S350P |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,551,871 (GRCm39) |
D903E |
probably benign |
Het |
| Trpc4ap |
A |
T |
2: 155,499,856 (GRCm39) |
I222N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,781,021 (GRCm39) |
Y3261N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,954 (GRCm39) |
V33344A |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,818 (GRCm39) |
T100S |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,810,933 (GRCm39) |
Y97H |
probably damaging |
Het |
| Vmn1r192 |
A |
T |
13: 22,371,800 (GRCm39) |
V140D |
possibly damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,655,651 (GRCm39) |
L621P |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,954,365 (GRCm39) |
M174K |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,052,454 (GRCm39) |
M162L |
probably benign |
Het |
| Wdr81 |
T |
A |
11: 75,344,461 (GRCm39) |
M269L |
probably benign |
Het |
| Zfp53 |
A |
G |
17: 21,728,713 (GRCm39) |
T249A |
probably benign |
Het |
| Zfp758 |
T |
C |
17: 22,580,626 (GRCm39) |
S22P |
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,663,298 (GRCm39) |
D419G |
possibly damaging |
Het |
| Zfp934 |
A |
T |
13: 62,666,507 (GRCm39) |
Y45N |
probably damaging |
Het |
|
| Other mutations in Nbeal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Nbeal2
|
APN |
9 |
110,464,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00784:Nbeal2
|
APN |
9 |
110,458,831 (GRCm39) |
splice site |
probably benign |
|
|
IGL00826:Nbeal2
|
APN |
9 |
110,455,971 (GRCm39) |
missense |
probably benign |
|
|
IGL00885:Nbeal2
|
APN |
9 |
110,467,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01348:Nbeal2
|
APN |
9 |
110,458,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01511:Nbeal2
|
APN |
9 |
110,458,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01571:Nbeal2
|
APN |
9 |
110,461,826 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01612:Nbeal2
|
APN |
9 |
110,473,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Nbeal2
|
APN |
9 |
110,460,482 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02056:Nbeal2
|
APN |
9 |
110,456,392 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02481:Nbeal2
|
APN |
9 |
110,455,063 (GRCm39) |
nonsense |
probably null |
|
|
IGL02483:Nbeal2
|
APN |
9 |
110,455,063 (GRCm39) |
nonsense |
probably null |
|
|
IGL02502:Nbeal2
|
APN |
9 |
110,462,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Nbeal2
|
APN |
9 |
110,459,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02637:Nbeal2
|
APN |
9 |
110,455,045 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02727:Nbeal2
|
APN |
9 |
110,468,353 (GRCm39) |
splice site |
probably benign |
|
|
IGL02887:Nbeal2
|
APN |
9 |
110,457,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:Nbeal2
|
APN |
9 |
110,468,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03110:Nbeal2
|
APN |
9 |
110,460,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Antonym
|
UTSW |
9 |
110,459,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Beowulf
|
UTSW |
9 |
110,467,005 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Blackmail
|
UTSW |
9 |
110,458,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dog
|
UTSW |
9 |
110,464,409 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
extortion
|
UTSW |
9 |
110,459,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
legion
|
UTSW |
9 |
110,458,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
litigious
|
UTSW |
9 |
110,457,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mall
|
UTSW |
9 |
110,461,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Mollusca
|
UTSW |
9 |
110,474,506 (GRCm39) |
splice site |
probably null |
|
|
Schleuter
|
UTSW |
9 |
110,457,812 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
shellfish
|
UTSW |
9 |
110,457,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sophomoric
|
UTSW |
9 |
110,462,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Nbeal2
|
UTSW |
9 |
110,467,005 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0032:Nbeal2
|
UTSW |
9 |
110,466,936 (GRCm39) |
splice site |
probably benign |
|
|
R0084:Nbeal2
|
UTSW |
9 |
110,472,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0147:Nbeal2
|
UTSW |
9 |
110,471,211 (GRCm39) |
nonsense |
probably null |
|
|
R0294:Nbeal2
|
UTSW |
9 |
110,461,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Nbeal2
|
UTSW |
9 |
110,467,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Nbeal2
|
UTSW |
9 |
110,456,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Nbeal2
|
UTSW |
9 |
110,471,226 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0630:Nbeal2
|
UTSW |
9 |
110,465,102 (GRCm39) |
splice site |
probably benign |
|
|
R0762:Nbeal2
|
UTSW |
9 |
110,472,876 (GRCm39) |
splice site |
probably benign |
|
|
R0862:Nbeal2
|
UTSW |
9 |
110,457,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0864:Nbeal2
|
UTSW |
9 |
110,457,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1225:Nbeal2
|
UTSW |
9 |
110,461,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Nbeal2
|
UTSW |
9 |
110,456,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1450:Nbeal2
|
UTSW |
9 |
110,462,740 (GRCm39) |
splice site |
probably benign |
|
|
R1519:Nbeal2
|
UTSW |
9 |
110,465,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Nbeal2
|
UTSW |
9 |
110,461,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Nbeal2
|
UTSW |
9 |
110,467,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1705:Nbeal2
|
UTSW |
9 |
110,454,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Nbeal2
|
UTSW |
9 |
110,459,925 (GRCm39) |
nonsense |
probably null |
|
|
R1834:Nbeal2
|
UTSW |
9 |
110,456,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Nbeal2
|
UTSW |
9 |
110,461,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Nbeal2
|
UTSW |
9 |
110,463,139 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2014:Nbeal2
|
UTSW |
9 |
110,463,139 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2055:Nbeal2
|
UTSW |
9 |
110,464,375 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2086:Nbeal2
|
UTSW |
9 |
110,463,139 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2167:Nbeal2
|
UTSW |
9 |
110,467,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Nbeal2
|
UTSW |
9 |
110,459,318 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2309:Nbeal2
|
UTSW |
9 |
110,455,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2378:Nbeal2
|
UTSW |
9 |
110,459,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2945:Nbeal2
|
UTSW |
9 |
110,457,136 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3052:Nbeal2
|
UTSW |
9 |
110,462,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3076:Nbeal2
|
UTSW |
9 |
110,460,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Nbeal2
|
UTSW |
9 |
110,465,955 (GRCm39) |
splice site |
probably benign |
|
|
R3974:Nbeal2
|
UTSW |
9 |
110,462,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4183:Nbeal2
|
UTSW |
9 |
110,465,743 (GRCm39) |
missense |
probably benign |
|
|
R4342:Nbeal2
|
UTSW |
9 |
110,460,861 (GRCm39) |
intron |
probably benign |
|
|
R4654:Nbeal2
|
UTSW |
9 |
110,461,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Nbeal2
|
UTSW |
9 |
110,461,123 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4822:Nbeal2
|
UTSW |
9 |
110,465,383 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4854:Nbeal2
|
UTSW |
9 |
110,460,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Nbeal2
|
UTSW |
9 |
110,464,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Nbeal2
|
UTSW |
9 |
110,464,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4990:Nbeal2
|
UTSW |
9 |
110,463,871 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4991:Nbeal2
|
UTSW |
9 |
110,467,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Nbeal2
|
UTSW |
9 |
110,466,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5057:Nbeal2
|
UTSW |
9 |
110,460,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Nbeal2
|
UTSW |
9 |
110,455,796 (GRCm39) |
splice site |
probably null |
|
|
R5161:Nbeal2
|
UTSW |
9 |
110,458,936 (GRCm39) |
missense |
probably benign |
|
|
R5202:Nbeal2
|
UTSW |
9 |
110,473,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5217:Nbeal2
|
UTSW |
9 |
110,461,158 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5408:Nbeal2
|
UTSW |
9 |
110,466,588 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5540:Nbeal2
|
UTSW |
9 |
110,460,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Nbeal2
|
UTSW |
9 |
110,460,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Nbeal2
|
UTSW |
9 |
110,458,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6057:Nbeal2
|
UTSW |
9 |
110,470,945 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6180:Nbeal2
|
UTSW |
9 |
110,454,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Nbeal2
|
UTSW |
9 |
110,457,058 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6232:Nbeal2
|
UTSW |
9 |
110,467,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Nbeal2
|
UTSW |
9 |
110,457,812 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6423:Nbeal2
|
UTSW |
9 |
110,455,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6543:Nbeal2
|
UTSW |
9 |
110,473,526 (GRCm39) |
missense |
probably benign |
|
|
R6648:Nbeal2
|
UTSW |
9 |
110,466,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Nbeal2
|
UTSW |
9 |
110,462,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Nbeal2
|
UTSW |
9 |
110,465,973 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6916:Nbeal2
|
UTSW |
9 |
110,455,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6935:Nbeal2
|
UTSW |
9 |
110,468,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Nbeal2
|
UTSW |
9 |
110,467,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Nbeal2
|
UTSW |
9 |
110,467,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Nbeal2
|
UTSW |
9 |
110,457,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Nbeal2
|
UTSW |
9 |
110,455,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7073:Nbeal2
|
UTSW |
9 |
110,455,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7099:Nbeal2
|
UTSW |
9 |
110,474,506 (GRCm39) |
splice site |
probably null |
|
|
R7354:Nbeal2
|
UTSW |
9 |
110,458,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Nbeal2
|
UTSW |
9 |
110,459,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7397:Nbeal2
|
UTSW |
9 |
110,457,100 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7552:Nbeal2
|
UTSW |
9 |
110,482,985 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7619:Nbeal2
|
UTSW |
9 |
110,454,886 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7821:Nbeal2
|
UTSW |
9 |
110,459,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7902:Nbeal2
|
UTSW |
9 |
110,466,615 (GRCm39) |
missense |
probably benign |
|
|
R7923:Nbeal2
|
UTSW |
9 |
110,460,514 (GRCm39) |
nonsense |
probably null |
|
|
R8018:Nbeal2
|
UTSW |
9 |
110,458,225 (GRCm39) |
unclassified |
probably benign |
|
|
R8190:Nbeal2
|
UTSW |
9 |
110,455,158 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8297:Nbeal2
|
UTSW |
9 |
110,464,409 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8404:Nbeal2
|
UTSW |
9 |
110,463,457 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8502:Nbeal2
|
UTSW |
9 |
110,463,457 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8737:Nbeal2
|
UTSW |
9 |
110,456,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Nbeal2
|
UTSW |
9 |
110,459,873 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8807:Nbeal2
|
UTSW |
9 |
110,458,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8877:Nbeal2
|
UTSW |
9 |
110,459,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9057:Nbeal2
|
UTSW |
9 |
110,456,218 (GRCm39) |
missense |
probably benign |
|
|
R9267:Nbeal2
|
UTSW |
9 |
110,462,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Nbeal2
|
UTSW |
9 |
110,463,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Nbeal2
|
UTSW |
9 |
110,456,916 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9482:Nbeal2
|
UTSW |
9 |
110,463,066 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9533:Nbeal2
|
UTSW |
9 |
110,473,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9566:Nbeal2
|
UTSW |
9 |
110,457,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9769:Nbeal2
|
UTSW |
9 |
110,455,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
V7583:Nbeal2
|
UTSW |
9 |
110,467,005 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0017:Nbeal2
|
UTSW |
9 |
110,473,346 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0065:Nbeal2
|
UTSW |
9 |
110,473,481 (GRCm39) |
splice site |
probably benign |
|
|
Z1088:Nbeal2
|
UTSW |
9 |
110,461,440 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1176:Nbeal2
|
UTSW |
9 |
110,467,903 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Nbeal2
|
UTSW |
9 |
110,454,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Nbeal2
|
UTSW |
9 |
110,458,922 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGACACCTGGGAGATTC -3'
(R):5'- GCCAGGAATTCAGCTTAGCCAG -3'
Sequencing Primer
(F):5'- AACTGGCTGCTGCGTACCTAG -3'
(R):5'- GGAATTCAGCTTAGCCAGACTTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation