Incidental Mutation 'R1997:Nbeal2'
| ID |
224364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbeal2
|
| Ensembl Gene |
ENSMUSG00000056724 |
| Gene Name |
neurobeachin-like 2 |
| Synonyms |
1110014F23Rik |
| MMRRC Submission |
040007-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R1997 (G1)
|
| Quality Score |
114 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110453857-110483229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110461266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1599
(H1599R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133191]
[ENSMUST00000167320]
[ENSMUST00000196488]
|
| AlphaFold |
no structure available at present |
| 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: H880R
|
| SMART Domains |
Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
AA Change: H880R
| 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 |
probably benign
Transcript: ENSMUST00000131017
|
| SMART Domains |
Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724
| 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: H1592R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: H1592R
| 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 |
noncoding transcript
Transcript: ENSMUST00000138072
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167320
AA Change: H1599R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: H1599R
| 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 damaging
Transcript: ENSMUST00000196488
AA Change: H1565R
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: H1565R
| 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: ENSMUST00000153960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184024
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.2%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,382,005 (GRCm39) |
F1320S |
possibly damaging |
Het |
| Aaas |
C |
T |
15: 102,248,494 (GRCm39) |
V241I |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,504,700 (GRCm39) |
I1233T |
probably benign |
Het |
| Acin1 |
T |
C |
14: 54,884,156 (GRCm39) |
|
probably null |
Het |
| Acly |
A |
T |
11: 100,409,977 (GRCm39) |
I185N |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,386 (GRCm39) |
D897G |
probably benign |
Het |
| Allc |
A |
C |
12: 28,613,482 (GRCm39) |
D153E |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,879 (GRCm39) |
S1185P |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,909,363 (GRCm39) |
Q536L |
probably damaging |
Het |
| Ap1g2 |
T |
C |
14: 55,339,835 (GRCm39) |
E448G |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,166,270 (GRCm39) |
V50D |
probably benign |
Het |
| Bace2 |
A |
T |
16: 97,216,289 (GRCm39) |
D294V |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,199,283 (GRCm39) |
K708E |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,678,175 (GRCm39) |
R358C |
probably damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,547,271 (GRCm39) |
V39E |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 109,976,668 (GRCm39) |
D111V |
probably damaging |
Het |
| Cercam |
C |
A |
2: 29,762,935 (GRCm39) |
T223K |
probably benign |
Het |
| Cimip2a |
T |
G |
2: 25,110,217 (GRCm39) |
L43R |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,710,848 (GRCm39) |
H76R |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 7,999,644 (GRCm39) |
N1024K |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,779,446 (GRCm39) |
N41Y |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,038 (GRCm39) |
|
probably null |
Het |
| Dbn1 |
T |
C |
13: 55,630,254 (GRCm39) |
H38R |
probably damaging |
Het |
| Dclre1b |
A |
G |
3: 103,710,672 (GRCm39) |
V287A |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,755,634 (GRCm39) |
T1609A |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,059,250 (GRCm39) |
|
probably null |
Het |
| Dhcr7 |
T |
G |
7: 143,401,167 (GRCm39) |
D446E |
probably damaging |
Het |
| Dlx5 |
A |
T |
6: 6,879,680 (GRCm39) |
M129K |
possibly damaging |
Het |
| Dnah11 |
C |
G |
12: 118,046,203 (GRCm39) |
G1745A |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,181,281 (GRCm39) |
T133A |
possibly damaging |
Het |
| Eif3e |
A |
G |
15: 43,129,005 (GRCm39) |
L205P |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,296,044 (GRCm39) |
|
probably null |
Het |
| Fank1 |
C |
T |
7: 133,463,954 (GRCm39) |
T50I |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,223,473 (GRCm39) |
T940A |
possibly damaging |
Het |
| Fkbp10 |
T |
C |
11: 100,306,841 (GRCm39) |
F78L |
probably damaging |
Het |
| Gabbr2 |
A |
C |
4: 46,787,502 (GRCm39) |
F387C |
probably damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,751,387 (GRCm39) |
L138I |
probably damaging |
Het |
| Gm2832 |
T |
A |
14: 41,002,943 (GRCm39) |
|
probably null |
Het |
| Gm5084 |
T |
A |
13: 60,360,344 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9979 |
T |
C |
13: 40,859,228 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
G |
6: 3,487,241 (GRCm39) |
S39P |
probably damaging |
Het |
| Hesx1 |
A |
T |
14: 26,723,340 (GRCm39) |
N57Y |
probably damaging |
Het |
| Kcnh1 |
G |
A |
1: 191,959,243 (GRCm39) |
V266I |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,392,904 (GRCm39) |
T1168A |
possibly damaging |
Het |
| Kng2 |
A |
T |
16: 22,843,626 (GRCm39) |
F118I |
possibly damaging |
Het |
| Lig3 |
C |
T |
11: 82,678,492 (GRCm39) |
P245S |
probably benign |
Het |
| Loxhd1 |
G |
T |
18: 77,383,465 (GRCm39) |
W121C |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,178,525 (GRCm39) |
V1568A |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,473,882 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
C |
T |
2: 4,998,571 (GRCm39) |
V790M |
probably damaging |
Het |
| Mia3 |
A |
T |
1: 183,125,707 (GRCm39) |
F1223I |
possibly damaging |
Het |
| Mlec |
C |
A |
5: 115,288,405 (GRCm39) |
K150N |
probably damaging |
Het |
| Morn4 |
T |
C |
19: 42,064,977 (GRCm39) |
K70R |
possibly damaging |
Het |
| Mphosph10 |
A |
C |
7: 64,037,195 (GRCm39) |
|
probably null |
Het |
| Myocd |
G |
A |
11: 65,095,147 (GRCm39) |
Q47* |
probably null |
Het |
| Nav2 |
T |
A |
7: 49,198,219 (GRCm39) |
S1283T |
probably benign |
Het |
| Nek10 |
G |
T |
14: 14,827,003 (GRCm38) |
G67V |
probably benign |
Het |
| Nlgn2 |
A |
C |
11: 69,718,876 (GRCm39) |
V271G |
probably damaging |
Het |
| Or1o2 |
A |
G |
17: 37,542,523 (GRCm39) |
V246A |
probably damaging |
Het |
| Or2l5 |
A |
C |
16: 19,333,792 (GRCm39) |
V198G |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,576,793 (GRCm39) |
M355L |
probably benign |
Het |
| Per2 |
T |
C |
1: 91,368,581 (GRCm39) |
E264G |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,982,384 (GRCm39) |
L113P |
unknown |
Het |
| Piwil2 |
A |
G |
14: 70,664,107 (GRCm39) |
V14A |
possibly damaging |
Het |
| Plekha6 |
G |
A |
1: 133,191,556 (GRCm39) |
A146T |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,042,971 (GRCm39) |
V1473I |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,850,518 (GRCm39) |
L111P |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,108,979 (GRCm39) |
L533P |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,774,093 (GRCm39) |
|
probably benign |
Het |
| Ppp2r1b |
T |
A |
9: 50,778,671 (GRCm39) |
M208K |
possibly damaging |
Het |
| Prdm5 |
A |
G |
6: 65,913,072 (GRCm39) |
Y207C |
probably damaging |
Het |
| Prkar2b |
A |
G |
12: 32,013,934 (GRCm39) |
V314A |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,386,292 (GRCm39) |
S725T |
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,416,535 (GRCm39) |
F194L |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,050,496 (GRCm39) |
I2255V |
probably damaging |
Het |
| Sardh |
T |
G |
2: 27,134,409 (GRCm39) |
T36P |
probably damaging |
Het |
| Sec23a |
T |
A |
12: 59,048,793 (GRCm39) |
I110L |
probably benign |
Het |
| Slc22a29 |
T |
A |
19: 8,195,162 (GRCm39) |
I158L |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,284,984 (GRCm39) |
D210G |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,704,746 (GRCm39) |
N566S |
probably benign |
Het |
| Tcf20 |
G |
A |
15: 82,741,431 (GRCm39) |
Q7* |
probably null |
Het |
| Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Tet2 |
G |
A |
3: 133,192,350 (GRCm39) |
Q695* |
probably null |
Het |
| Tnfaip1 |
T |
C |
11: 78,420,973 (GRCm39) |
Y29C |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,227,095 (GRCm39) |
K328E |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,623 (GRCm39) |
E668G |
probably damaging |
Het |
| Ube2o |
T |
A |
11: 116,436,163 (GRCm39) |
E326V |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,776,754 (GRCm39) |
|
probably null |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,033 (GRCm39) |
S195R |
probably damaging |
Het |
| Vmn1r213 |
T |
G |
13: 23,196,473 (GRCm39) |
V352G |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,880 (GRCm39) |
D307E |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,116,812 (GRCm39) |
D76G |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,401,376 (GRCm39) |
C4114* |
probably null |
Het |
| Zbed6 |
A |
G |
1: 133,584,451 (GRCm39) |
L962P |
probably damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,799,305 (GRCm39) |
C37S |
probably damaging |
Het |
| Zfp628 |
G |
T |
7: 4,921,831 (GRCm39) |
G18W |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,114 (GRCm39) |
K138* |
probably null |
Het |
| Zfp867 |
A |
T |
11: 59,354,417 (GRCm39) |
V304D |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,103,027 (GRCm39) |
T102A |
possibly damaging |
Het |
| Zmym5 |
G |
A |
14: 57,035,210 (GRCm39) |
S286L |
possibly 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 |
|
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'- TCAAAGAAGGTGGGGCTTC -3'
(R):5'- ATAGCACAGCAGATCTCCGG -3'
Sequencing Primer
(F):5'- ATATGCACGGTCCAGCAG -3'
(R):5'- ATCTCCGGGAGATGGCG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation