Incidental Mutation 'R1834:Nbeal2'
| ID |
205064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbeal2
|
| Ensembl Gene |
ENSMUSG00000056724 |
| Gene Name |
neurobeachin-like 2 |
| Synonyms |
1110014F23Rik |
| MMRRC Submission |
039861-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R1834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110453857-110483229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110456197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 2417
(N2417S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035069]
[ENSMUST00000133191]
[ENSMUST00000167320]
[ENSMUST00000196488]
[ENSMUST00000196876]
[ENSMUST00000196735]
|
| 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: N1705S
|
| SMART Domains |
Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
AA Change: N1705S
| 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: N746S
|
| SMART Domains |
Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724
AA Change: N746S
| 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: N2417S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: N2417S
| 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 benign
Transcript: ENSMUST00000167320
AA Change: N2424S
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: N2424S
| 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 |
probably benign
Transcript: ENSMUST00000196488
AA Change: N2390S
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: N2390S
| 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 |
noncoding transcript
Transcript: ENSMUST00000138072
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1114 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
| Validation Efficiency |
97% (116/119) |
| 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: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,313 (GRCm39) |
D20G |
probably damaging |
Het |
| 2310061N02Rik |
T |
A |
16: 88,504,786 (GRCm39) |
S4C |
unknown |
Het |
| Abca3 |
A |
T |
17: 24,595,666 (GRCm39) |
N340Y |
probably benign |
Het |
| Abcc1 |
A |
G |
16: 14,240,981 (GRCm39) |
I513V |
possibly damaging |
Het |
| Acacb |
C |
T |
5: 114,373,536 (GRCm39) |
T1855M |
probably damaging |
Het |
| Ace |
A |
G |
11: 105,876,920 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,400,550 (GRCm39) |
Y530N |
probably damaging |
Het |
| Adarb1 |
C |
A |
10: 77,153,065 (GRCm39) |
|
probably benign |
Het |
| Afm |
T |
A |
5: 90,674,283 (GRCm39) |
M265K |
probably benign |
Het |
| Agl |
A |
G |
3: 116,582,000 (GRCm39) |
F293S |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,348,150 (GRCm39) |
A623T |
probably benign |
Het |
| Arhgap31 |
C |
A |
16: 38,424,065 (GRCm39) |
S667I |
probably benign |
Het |
| Bco1 |
A |
G |
8: 117,844,176 (GRCm39) |
T297A |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,746,271 (GRCm39) |
S123G |
possibly damaging |
Het |
| Caps2 |
G |
A |
10: 112,031,623 (GRCm39) |
D283N |
possibly damaging |
Het |
| Ccdc57 |
A |
C |
11: 120,752,045 (GRCm39) |
S845R |
probably benign |
Het |
| Cd209f |
A |
G |
8: 4,154,491 (GRCm39) |
S119P |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,897,242 (GRCm39) |
S212P |
probably benign |
Het |
| Col10a1 |
G |
C |
10: 34,271,011 (GRCm39) |
A328P |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,452,997 (GRCm39) |
E188G |
probably benign |
Het |
| Creb1 |
C |
T |
1: 64,590,109 (GRCm39) |
Q32* |
probably null |
Het |
| Cttnbp2 |
C |
T |
6: 18,501,965 (GRCm39) |
V16M |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,446 (GRCm39) |
S1102P |
probably damaging |
Het |
| Ddx31 |
C |
T |
2: 28,782,465 (GRCm39) |
H603Y |
probably damaging |
Het |
| Ddx52 |
G |
A |
11: 83,850,323 (GRCm39) |
C568Y |
probably benign |
Het |
| Dgki |
C |
A |
6: 37,011,636 (GRCm39) |
|
probably benign |
Het |
| Dmrt1 |
A |
T |
19: 25,487,063 (GRCm39) |
Q123L |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,409,270 (GRCm39) |
M3563L |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,272,919 (GRCm39) |
N2349I |
possibly damaging |
Het |
| Dscaml1 |
T |
G |
9: 45,594,930 (GRCm39) |
S678A |
probably benign |
Het |
| Ece1 |
C |
T |
4: 137,685,312 (GRCm39) |
R601W |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,685,439 (GRCm39) |
N643S |
probably damaging |
Het |
| Eno1b |
A |
G |
18: 48,180,530 (GRCm39) |
Y236C |
probably damaging |
Het |
| Esco1 |
T |
C |
18: 10,594,350 (GRCm39) |
E312G |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,434,429 (GRCm39) |
V276E |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,395,552 (GRCm39) |
|
probably benign |
Het |
| Fem1c |
C |
T |
18: 46,638,349 (GRCm39) |
G551D |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,429,718 (GRCm39) |
I155T |
possibly damaging |
Het |
| Gbp7 |
A |
G |
3: 142,240,441 (GRCm39) |
Y53C |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm10030 |
C |
T |
9: 110,833,947 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3443 |
T |
A |
19: 21,533,043 (GRCm39) |
H2Q |
unknown |
Het |
| Gm5800 |
T |
C |
14: 51,953,549 (GRCm39) |
E22G |
possibly damaging |
Het |
| Gsdma2 |
G |
T |
11: 98,539,905 (GRCm39) |
R9L |
probably damaging |
Het |
| Gvin3 |
A |
T |
7: 106,202,983 (GRCm39) |
V87D |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,067,395 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
G |
A |
13: 70,763,457 (GRCm39) |
T167I |
probably damaging |
Het |
| Ifi204 |
T |
A |
1: 173,575,172 (GRCm39) |
R618S |
unknown |
Het |
| Itga2 |
C |
A |
13: 114,993,262 (GRCm39) |
K784N |
probably damaging |
Het |
| Itga2 |
T |
A |
13: 114,993,263 (GRCm39) |
K784M |
probably damaging |
Het |
| Kif3b |
A |
G |
2: 153,159,405 (GRCm39) |
E402G |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,297,224 (GRCm39) |
I3246V |
probably benign |
Het |
| Lrrn3 |
G |
T |
12: 41,503,517 (GRCm39) |
L267I |
probably damaging |
Het |
| Map1s |
A |
G |
8: 71,369,055 (GRCm39) |
Y868C |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,845,901 (GRCm39) |
T370A |
possibly damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,793 (GRCm39) |
S16G |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,555,883 (GRCm39) |
T1683A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,126,907 (GRCm39) |
N3605S |
probably damaging |
Het |
| Net1 |
A |
T |
13: 3,962,941 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,461,164 (GRCm39) |
T2464A |
possibly damaging |
Het |
| Nt5e |
T |
A |
9: 88,252,240 (GRCm39) |
I534N |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,318,071 (GRCm39) |
H58L |
probably damaging |
Het |
| Ocrl |
T |
A |
X: 47,050,993 (GRCm39) |
I74N |
probably damaging |
Het |
| Or1a1 |
A |
G |
11: 74,086,479 (GRCm39) |
H50R |
probably benign |
Het |
| Or2ag13 |
A |
G |
7: 106,473,348 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,690 (GRCm39) |
T38A |
probably damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,701 (GRCm39) |
I16T |
probably benign |
Het |
| Pef1 |
C |
A |
4: 130,014,966 (GRCm39) |
C10* |
probably null |
Het |
| Phf21b |
A |
G |
15: 84,681,547 (GRCm39) |
Y256H |
probably damaging |
Het |
| Phox2a |
G |
T |
7: 101,470,152 (GRCm39) |
|
probably null |
Het |
| Pi16 |
A |
G |
17: 29,546,419 (GRCm39) |
E399G |
possibly damaging |
Het |
| Pipox |
A |
T |
11: 77,772,949 (GRCm39) |
Y321N |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,410,522 (GRCm39) |
S1170P |
probably damaging |
Het |
| Pnma2 |
C |
T |
14: 67,154,662 (GRCm39) |
S362L |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,113,710 (GRCm39) |
I738T |
probably damaging |
Het |
| Prkcsh |
A |
T |
9: 21,919,634 (GRCm39) |
K188M |
probably damaging |
Het |
| Rcc1l |
A |
T |
5: 134,192,498 (GRCm39) |
Y309N |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,199,196 (GRCm39) |
T123A |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,324,355 (GRCm39) |
D961G |
probably benign |
Het |
| Rps27a |
A |
G |
11: 29,496,299 (GRCm39) |
Y105H |
probably benign |
Het |
| Scaper |
A |
G |
9: 55,724,018 (GRCm39) |
Y641H |
possibly damaging |
Het |
| Scn1a |
C |
A |
2: 66,154,960 (GRCm39) |
Q666H |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,154,961 (GRCm39) |
Q666L |
probably benign |
Het |
| Sdhaf4 |
T |
C |
1: 24,042,234 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
A |
G |
11: 4,016,510 (GRCm39) |
|
probably benign |
Het |
| Selp |
C |
A |
1: 163,955,729 (GRCm39) |
|
probably null |
Het |
| Sim1 |
A |
G |
10: 50,785,924 (GRCm39) |
D259G |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,882,013 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
A |
7: 27,066,071 (GRCm39) |
E679V |
probably null |
Het |
| Sytl3 |
G |
A |
17: 6,995,726 (GRCm39) |
E169K |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,797,087 (GRCm39) |
C262R |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,948,570 (GRCm39) |
R319G |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,893,700 (GRCm39) |
I1291T |
probably benign |
Het |
| Tet1 |
G |
A |
10: 62,649,444 (GRCm39) |
P89S |
probably damaging |
Het |
| Tgfbrap1 |
C |
A |
1: 43,110,795 (GRCm39) |
G7W |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,533,432 (GRCm39) |
V1673A |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,897,989 (GRCm39) |
V610A |
probably benign |
Het |
| Tmem163 |
A |
G |
1: 127,605,246 (GRCm39) |
S41P |
probably benign |
Het |
| Tmem65 |
A |
T |
15: 58,658,962 (GRCm39) |
H200Q |
probably damaging |
Het |
| Trgc3 |
A |
G |
13: 19,447,535 (GRCm39) |
T163A |
possibly damaging |
Het |
| Trim62 |
T |
C |
4: 128,803,018 (GRCm39) |
V356A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,562,502 (GRCm39) |
D28781G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,593,604 (GRCm39) |
V20679I |
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,962,749 (GRCm39) |
Y339* |
probably null |
Het |
| Unc80 |
A |
T |
1: 66,678,407 (GRCm39) |
T2063S |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,413,742 (GRCm39) |
T227A |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,899,456 (GRCm39) |
I816N |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,369 (GRCm39) |
M648K |
possibly damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,650,487 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,389,359 (GRCm39) |
T66A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,484 (GRCm39) |
Y1242N |
probably damaging |
Het |
| Ywhag |
G |
A |
5: 135,940,384 (GRCm39) |
T70M |
probably damaging |
Het |
| Zfp248 |
T |
C |
6: 118,405,931 (GRCm39) |
T452A |
probably damaging |
Het |
| Zfp988 |
A |
T |
4: 147,417,344 (GRCm39) |
I593F |
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 |
|
|
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 |
|
R2113:Nbeal2
|
UTSW |
9 |
110,454,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTTTCTGCACCCTAAACCAAGG -3'
(R):5'- TTATCACCCAGAGCTCCTCG -3'
Sequencing Primer
(F):5'- CCACGGGTGAGAGATGTG -3'
(R):5'- CCTCGGACATGTTGGTAAGTACAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation