Incidental Mutation 'R0494:Nbeal2'
| ID |
42661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbeal2
|
| Ensembl Gene |
ENSMUSG00000056724 |
| Gene Name |
neurobeachin-like 2 |
| Synonyms |
1110014F23Rik |
| MMRRC Submission |
038691-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R0494 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110453857-110483229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110456255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1686
(V1686L)
|
| 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 |
probably damaging
Transcript: ENSMUST00000130024
AA Change: V1686L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
AA Change: V1686L
| 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: V727L
|
| SMART Domains |
Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724
AA Change: V727L
| 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: V2398L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: V2398L
| 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 |
possibly damaging
Transcript: ENSMUST00000167320
AA Change: V2405L
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: V2405L
| 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: V2371L
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: V2371L
| 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: ENSMUST00000138072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197894
|
| 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 |
0.1400 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (109/112) |
| 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: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
C |
11: 84,402,339 (GRCm39) |
I116V |
probably benign |
Het |
| Abhd18 |
T |
C |
3: 40,871,123 (GRCm39) |
F94S |
probably damaging |
Het |
| Adam28 |
T |
A |
14: 68,868,241 (GRCm39) |
|
probably benign |
Het |
| Afg2a |
G |
C |
3: 37,486,312 (GRCm39) |
D345H |
possibly damaging |
Het |
| Amn1 |
A |
T |
6: 149,086,634 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,170,199 (GRCm39) |
V993A |
probably damaging |
Het |
| Arhgap33 |
A |
T |
7: 30,223,921 (GRCm39) |
S703T |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,618,785 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
A |
G |
19: 6,303,407 (GRCm39) |
Y1083C |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,872,731 (GRCm39) |
F760L |
probably damaging |
Het |
| B9d1 |
A |
G |
11: 61,403,271 (GRCm39) |
|
probably benign |
Het |
| Batf |
C |
T |
12: 85,733,636 (GRCm39) |
|
probably benign |
Het |
| BC051019 |
T |
A |
7: 109,317,182 (GRCm39) |
Y170F |
probably benign |
Het |
| Bphl |
T |
C |
13: 34,221,754 (GRCm39) |
*37Q |
probably null |
Het |
| Cab39l |
T |
C |
14: 59,737,008 (GRCm39) |
S43P |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,234,856 (GRCm39) |
|
probably benign |
Het |
| Cct4 |
T |
G |
11: 22,946,014 (GRCm39) |
S119A |
probably benign |
Het |
| Cd163 |
G |
A |
6: 124,288,408 (GRCm39) |
V280M |
probably damaging |
Het |
| Cd86 |
A |
G |
16: 36,438,999 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,152,375 (GRCm39) |
|
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,852,431 (GRCm39) |
F145S |
probably damaging |
Het |
| Cdt1 |
T |
C |
8: 123,298,799 (GRCm39) |
S479P |
possibly damaging |
Het |
| Ces2g |
T |
C |
8: 105,693,199 (GRCm39) |
V372A |
probably benign |
Het |
| Chrna3 |
T |
C |
9: 54,929,562 (GRCm39) |
D92G |
probably damaging |
Het |
| Cndp1 |
A |
G |
18: 84,637,658 (GRCm39) |
S359P |
probably benign |
Het |
| Cops4 |
A |
G |
5: 100,676,528 (GRCm39) |
Q93R |
probably damaging |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Dmp1 |
A |
T |
5: 104,360,074 (GRCm39) |
D250V |
probably damaging |
Het |
| Dnajb2 |
C |
T |
1: 75,216,278 (GRCm39) |
|
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,899,996 (GRCm39) |
T113A |
possibly damaging |
Het |
| Egln3 |
T |
A |
12: 54,250,107 (GRCm39) |
I81F |
probably benign |
Het |
| Elapor2 |
G |
A |
5: 9,470,723 (GRCm39) |
|
probably null |
Het |
| Elovl5 |
T |
C |
9: 77,868,199 (GRCm39) |
V37A |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,594,940 (GRCm39) |
N115K |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,403,579 (GRCm39) |
N110I |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,246,054 (GRCm39) |
K370N |
probably damaging |
Het |
| Galnt18 |
T |
A |
7: 111,153,771 (GRCm39) |
K284N |
probably damaging |
Het |
| Glt8d1 |
C |
A |
14: 30,733,580 (GRCm39) |
T355K |
possibly damaging |
Het |
| Gm17455 |
G |
A |
10: 60,239,014 (GRCm39) |
R93H |
possibly damaging |
Het |
| Gng8 |
T |
A |
7: 16,629,213 (GRCm39) |
D46E |
probably benign |
Het |
| Gpx4 |
T |
C |
10: 79,892,011 (GRCm39) |
|
probably benign |
Het |
| Grk2 |
A |
T |
19: 4,341,347 (GRCm39) |
N189K |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,989 (GRCm39) |
V1143A |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,942,055 (GRCm39) |
E237G |
possibly damaging |
Het |
| Hipk2 |
C |
T |
6: 38,706,924 (GRCm39) |
A682T |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,608,543 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 34,979,188 (GRCm39) |
D857G |
possibly damaging |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Igsf8 |
A |
G |
1: 172,146,265 (GRCm39) |
E421G |
probably benign |
Het |
| Kif26a |
T |
A |
12: 112,145,905 (GRCm39) |
|
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,251 (GRCm39) |
Y519C |
probably damaging |
Het |
| Lamc1 |
A |
C |
1: 153,122,682 (GRCm39) |
|
probably null |
Het |
| Mical3 |
A |
T |
6: 120,936,162 (GRCm39) |
S1455T |
possibly damaging |
Het |
| Mitf |
G |
A |
6: 97,971,390 (GRCm39) |
G186S |
probably benign |
Het |
| Ms4a15 |
G |
A |
19: 10,958,722 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,787,038 (GRCm39) |
E481G |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nedd4l |
T |
G |
18: 65,306,092 (GRCm39) |
S335A |
possibly damaging |
Het |
| Nos1 |
A |
T |
5: 118,043,539 (GRCm39) |
N605Y |
probably damaging |
Het |
| Nyx |
C |
A |
X: 13,353,508 (GRCm39) |
T454K |
probably benign |
Het |
| Or52n2 |
A |
G |
7: 104,542,478 (GRCm39) |
L119P |
probably damaging |
Het |
| Or8g55 |
T |
A |
9: 39,784,698 (GRCm39) |
N42K |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,148 (GRCm39) |
F765I |
probably benign |
Het |
| Pex3 |
C |
T |
10: 13,403,532 (GRCm39) |
G330R |
probably damaging |
Het |
| Pfkfb1 |
T |
C |
X: 149,417,609 (GRCm39) |
Y339H |
probably damaging |
Het |
| Pias1 |
G |
A |
9: 62,794,593 (GRCm39) |
Q26* |
probably null |
Het |
| Pik3cg |
C |
A |
12: 32,254,545 (GRCm39) |
V481L |
possibly damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,843 (GRCm39) |
T108M |
probably damaging |
Het |
| Pon2 |
G |
A |
6: 5,267,059 (GRCm39) |
|
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,400,952 (GRCm39) |
|
probably benign |
Het |
| Pramel21 |
G |
T |
4: 143,342,726 (GRCm39) |
V278F |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,767,771 (GRCm39) |
K18E |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,771,736 (GRCm39) |
Q360* |
probably null |
Het |
| Rab10 |
A |
C |
12: 3,302,723 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
G |
10: 58,303,254 (GRCm39) |
S809A |
possibly damaging |
Het |
| Rbms2 |
A |
G |
10: 127,969,539 (GRCm39) |
V348A |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,316,838 (GRCm39) |
E988G |
possibly damaging |
Het |
| Rnf213 |
A |
T |
11: 119,333,946 (GRCm39) |
M3052L |
probably damaging |
Het |
| Rpl14 |
C |
A |
9: 120,403,428 (GRCm39) |
|
probably benign |
Het |
| Rplp0 |
A |
G |
5: 115,697,931 (GRCm39) |
Y13C |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,703,218 (GRCm39) |
|
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,324 (GRCm39) |
E98G |
probably damaging |
Het |
| Scn10a |
T |
A |
9: 119,453,166 (GRCm39) |
D1242V |
probably damaging |
Het |
| Scnn1b |
T |
C |
7: 121,498,681 (GRCm39) |
Y74H |
probably damaging |
Het |
| Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
| Sf3b4 |
C |
A |
3: 96,081,017 (GRCm39) |
D108E |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,032,935 (GRCm39) |
V307A |
probably damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,781,426 (GRCm39) |
D458G |
probably benign |
Het |
| Strc |
T |
C |
2: 121,210,014 (GRCm39) |
D103G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,910,369 (GRCm39) |
I923T |
probably benign |
Het |
| Tango6 |
G |
T |
8: 107,462,314 (GRCm39) |
|
probably benign |
Het |
| Tas2r106 |
A |
G |
6: 131,655,539 (GRCm39) |
L104P |
probably damaging |
Het |
| Tat |
C |
T |
8: 110,718,316 (GRCm39) |
P67L |
probably damaging |
Het |
| Tln2 |
A |
C |
9: 67,262,479 (GRCm39) |
S593A |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,685,607 (GRCm39) |
|
probably null |
Het |
| Tppp3 |
G |
A |
8: 106,194,804 (GRCm39) |
A109V |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,220,361 (GRCm39) |
F2366S |
probably benign |
Het |
| Trpc5 |
T |
A |
X: 143,264,392 (GRCm39) |
Y155F |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,151,268 (GRCm39) |
T451A |
probably benign |
Het |
| Ttc9 |
C |
A |
12: 81,678,423 (GRCm39) |
A82E |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,834,886 (GRCm39) |
N180I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,566,743 (GRCm39) |
N28050S |
possibly damaging |
Het |
| Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Wnt3 |
G |
A |
11: 103,703,141 (GRCm39) |
C208Y |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,978,325 (GRCm39) |
C696F |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,979,927 (GRCm39) |
D162G |
probably damaging |
Het |
| Zfp869 |
A |
T |
8: 70,159,054 (GRCm39) |
H506Q |
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 |
|
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 |
|
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'- TGAAGTCACTCGTAGGCTGCCATC -3'
(R):5'- AGGCTGTACCTCTGGTCTTAGCTC -3'
Sequencing Primer
(F):5'- ACTGAAGAGCAGCTTTCCGTC -3'
(R):5'- CTGGTTCCTCACCGACAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation