Incidental Mutation 'R9393:Atp10b'
| ID |
710688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10b
|
| Ensembl Gene |
ENSMUSG00000055415 |
| Gene Name |
ATPase, class V, type 10B |
| Synonyms |
9030605H24Rik, 5930426O13Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R9393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
43040704-43153112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43063608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 181
(N181S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077659]
|
| AlphaFold |
B1AWN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077659
AA Change: N181S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: N181S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
47 |
118 |
3.8e-26 |
PFAM |
|
Pfam:E1-E2_ATPase
|
123 |
393 |
2.9e-7 |
PFAM |
|
low complexity region
|
621 |
638 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase
|
692 |
799 |
7.1e-9 |
PFAM |
|
Pfam:HAD
|
705 |
1062 |
6.7e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
1079 |
1324 |
1.9e-79 |
PFAM |
|
low complexity region
|
1353 |
1366 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1471 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,616,270 (GRCm39) |
S133G |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,735,256 (GRCm39) |
E567G |
possibly damaging |
Het |
| Ak9 |
T |
C |
10: 41,285,068 (GRCm39) |
I1381T |
unknown |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arrb1 |
T |
A |
7: 99,238,891 (GRCm39) |
C150S |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,330 (GRCm39) |
I450V |
probably benign |
Het |
| Bptf |
A |
C |
11: 106,965,134 (GRCm39) |
D1353E |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc106 |
T |
A |
7: 5,059,200 (GRCm39) |
I6N |
possibly damaging |
Het |
| Celf6 |
A |
T |
9: 59,510,525 (GRCm39) |
Q252L |
probably benign |
Het |
| Colgalt2 |
A |
T |
1: 152,360,598 (GRCm39) |
K212* |
probably null |
Het |
| Cryba4 |
T |
C |
5: 112,394,632 (GRCm39) |
S166G |
probably benign |
Het |
| Cyp2w1 |
A |
G |
5: 139,342,035 (GRCm39) |
E123G |
probably benign |
Het |
| Cyp4a10 |
G |
C |
4: 115,382,566 (GRCm39) |
K285N |
probably damaging |
Het |
| Cyth1 |
G |
T |
11: 118,074,710 (GRCm39) |
T197K |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,894,685 (GRCm39) |
W262R |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,872,361 (GRCm39) |
V450D |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,842,433 (GRCm39) |
V222I |
probably benign |
Het |
| Fbxw19 |
A |
G |
9: 109,324,873 (GRCm39) |
S15P |
probably damaging |
Het |
| Fhip2b |
G |
A |
14: 70,831,463 (GRCm39) |
Q24* |
probably null |
Het |
| Fignl2 |
C |
A |
15: 100,951,466 (GRCm39) |
R272L |
unknown |
Het |
| Gm10842 |
A |
T |
11: 105,037,885 (GRCm39) |
D56V |
unknown |
Het |
| Gmps |
T |
A |
3: 63,900,640 (GRCm39) |
N305K |
probably benign |
Het |
| Gnai1 |
A |
T |
5: 18,565,055 (GRCm39) |
L38Q |
|
Het |
| Golim4 |
A |
T |
3: 75,785,464 (GRCm39) |
D642E |
probably benign |
Het |
| Gp1ba |
A |
T |
11: 70,531,293 (GRCm39) |
Q353L |
unknown |
Het |
| Gpnmb |
T |
C |
6: 49,024,996 (GRCm39) |
S343P |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,313,336 (GRCm39) |
R507* |
probably null |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,330,350 (GRCm39) |
Y585C |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,853,981 (GRCm39) |
D795E |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,729,392 (GRCm39) |
V309E |
probably benign |
Het |
| Krtap9-1 |
C |
A |
11: 99,764,664 (GRCm39) |
C133* |
probably null |
Het |
| Krtcap2 |
T |
C |
3: 89,153,578 (GRCm39) |
|
probably benign |
Het |
| Lilra5 |
T |
C |
7: 4,240,758 (GRCm39) |
M1T |
probably null |
Het |
| Magi1 |
G |
A |
6: 93,659,890 (GRCm39) |
T1019I |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,713,825 (GRCm39) |
H1967Q |
|
Het |
| Mgat4f |
A |
G |
1: 134,318,596 (GRCm39) |
D456G |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,980,666 (GRCm39) |
T1412S |
probably benign |
Het |
| Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,962,682 (GRCm39) |
T373A |
possibly damaging |
Het |
| Noc2l |
T |
C |
4: 156,320,784 (GRCm39) |
|
probably null |
Het |
| Nrg4 |
C |
T |
9: 55,149,420 (GRCm39) |
S59N |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,255 (GRCm39) |
V93A |
probably benign |
Het |
| Or9k2 |
T |
C |
10: 129,999,016 (GRCm39) |
T60A |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,840,212 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,475,955 (GRCm39) |
N196S |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,571,296 (GRCm39) |
Y787* |
probably null |
Het |
| Psma8 |
G |
A |
18: 14,839,298 (GRCm39) |
R4Q |
probably null |
Het |
| Reg4 |
A |
G |
3: 98,137,168 (GRCm39) |
K46E |
probably benign |
Het |
| Rnf14 |
T |
A |
18: 38,442,680 (GRCm39) |
M327K |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,263,586 (GRCm39) |
Y753* |
probably null |
Het |
| Slc26a11 |
A |
G |
11: 119,259,627 (GRCm39) |
R275G |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,518,656 (GRCm39) |
T527A |
possibly damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tas1r1 |
C |
T |
4: 152,116,413 (GRCm39) |
C407Y |
probably damaging |
Het |
| Tcstv1b |
A |
T |
13: 120,634,958 (GRCm39) |
Y80F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,127,559 (GRCm39) |
S40P |
probably damaging |
Het |
| Tespa1 |
T |
A |
10: 130,183,066 (GRCm39) |
S4T |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,599,547 (GRCm39) |
N511S |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,754,211 (GRCm39) |
I1014T |
probably benign |
Het |
| Tpte |
T |
A |
8: 22,774,990 (GRCm39) |
M20K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,612,390 (GRCm39) |
V17199A |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,703,411 (GRCm39) |
Y305H |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,212,613 (GRCm39) |
V5081E |
unknown |
Het |
| Unkl |
T |
C |
17: 25,448,392 (GRCm39) |
S322P |
probably damaging |
Het |
| Uqcc6 |
A |
G |
10: 82,458,475 (GRCm39) |
S59P |
unknown |
Het |
| Vav3 |
T |
A |
3: 109,485,682 (GRCm39) |
|
probably null |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,765 (GRCm39) |
S150P |
probably benign |
Het |
| Xpot |
A |
G |
10: 121,445,600 (GRCm39) |
|
probably null |
Het |
| Xylt1 |
A |
G |
7: 117,242,906 (GRCm39) |
I650V |
probably benign |
Het |
| Zan |
C |
A |
5: 137,403,682 (GRCm39) |
A3955S |
unknown |
Het |
|
| Other mutations in Atp10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Atp10b
|
APN |
11 |
43,092,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01385:Atp10b
|
APN |
11 |
43,125,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01524:Atp10b
|
APN |
11 |
43,150,672 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01575:Atp10b
|
APN |
11 |
43,063,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01588:Atp10b
|
APN |
11 |
43,063,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01590:Atp10b
|
APN |
11 |
43,063,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01832:Atp10b
|
APN |
11 |
43,125,262 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01927:Atp10b
|
APN |
11 |
43,150,231 (GRCm39) |
splice site |
probably benign |
|
|
IGL01933:Atp10b
|
APN |
11 |
43,085,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02182:Atp10b
|
APN |
11 |
43,139,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Atp10b
|
APN |
11 |
43,085,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02216:Atp10b
|
APN |
11 |
43,150,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02973:Atp10b
|
APN |
11 |
43,088,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Atp10b
|
APN |
11 |
43,085,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03106:Atp10b
|
APN |
11 |
43,138,304 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03123:Atp10b
|
APN |
11 |
43,044,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03202:Atp10b
|
APN |
11 |
43,125,268 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03339:Atp10b
|
APN |
11 |
43,121,442 (GRCm39) |
missense |
probably null |
0.71 |
|
R0053:Atp10b
|
UTSW |
11 |
43,107,391 (GRCm39) |
splice site |
probably benign |
|
|
R0053:Atp10b
|
UTSW |
11 |
43,107,391 (GRCm39) |
splice site |
probably benign |
|
|
R0098:Atp10b
|
UTSW |
11 |
43,080,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0098:Atp10b
|
UTSW |
11 |
43,080,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0281:Atp10b
|
UTSW |
11 |
43,044,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0379:Atp10b
|
UTSW |
11 |
43,145,141 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0380:Atp10b
|
UTSW |
11 |
43,116,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0470:Atp10b
|
UTSW |
11 |
43,093,866 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1355:Atp10b
|
UTSW |
11 |
43,042,482 (GRCm39) |
nonsense |
probably null |
|
|
R1368:Atp10b
|
UTSW |
11 |
43,092,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Atp10b
|
UTSW |
11 |
43,042,482 (GRCm39) |
nonsense |
probably null |
|
|
R1413:Atp10b
|
UTSW |
11 |
43,121,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1502:Atp10b
|
UTSW |
11 |
43,121,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Atp10b
|
UTSW |
11 |
43,088,351 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1596:Atp10b
|
UTSW |
11 |
43,126,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Atp10b
|
UTSW |
11 |
43,116,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Atp10b
|
UTSW |
11 |
43,150,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Atp10b
|
UTSW |
11 |
43,121,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1986:Atp10b
|
UTSW |
11 |
43,063,595 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2081:Atp10b
|
UTSW |
11 |
43,092,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2083:Atp10b
|
UTSW |
11 |
43,103,250 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2159:Atp10b
|
UTSW |
11 |
43,042,680 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2255:Atp10b
|
UTSW |
11 |
43,125,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Atp10b
|
UTSW |
11 |
43,080,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Atp10b
|
UTSW |
11 |
43,063,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3741:Atp10b
|
UTSW |
11 |
43,126,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3942:Atp10b
|
UTSW |
11 |
43,063,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3971:Atp10b
|
UTSW |
11 |
43,107,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Atp10b
|
UTSW |
11 |
43,150,679 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4050:Atp10b
|
UTSW |
11 |
43,150,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4078:Atp10b
|
UTSW |
11 |
43,044,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4567:Atp10b
|
UTSW |
11 |
43,088,384 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4651:Atp10b
|
UTSW |
11 |
43,085,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Atp10b
|
UTSW |
11 |
43,085,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Atp10b
|
UTSW |
11 |
43,138,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Atp10b
|
UTSW |
11 |
43,093,949 (GRCm39) |
missense |
probably benign |
|
|
R4987:Atp10b
|
UTSW |
11 |
43,042,440 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5232:Atp10b
|
UTSW |
11 |
43,093,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5233:Atp10b
|
UTSW |
11 |
43,121,387 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5281:Atp10b
|
UTSW |
11 |
43,145,163 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5307:Atp10b
|
UTSW |
11 |
43,103,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5460:Atp10b
|
UTSW |
11 |
43,121,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5518:Atp10b
|
UTSW |
11 |
43,042,463 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5659:Atp10b
|
UTSW |
11 |
43,136,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Atp10b
|
UTSW |
11 |
43,092,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5735:Atp10b
|
UTSW |
11 |
43,042,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6153:Atp10b
|
UTSW |
11 |
43,145,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Atp10b
|
UTSW |
11 |
43,126,573 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6259:Atp10b
|
UTSW |
11 |
43,092,065 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6394:Atp10b
|
UTSW |
11 |
43,116,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Atp10b
|
UTSW |
11 |
43,109,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Atp10b
|
UTSW |
11 |
43,094,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6771:Atp10b
|
UTSW |
11 |
43,094,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6775:Atp10b
|
UTSW |
11 |
43,113,040 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7134:Atp10b
|
UTSW |
11 |
43,136,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Atp10b
|
UTSW |
11 |
43,103,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Atp10b
|
UTSW |
11 |
43,138,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Atp10b
|
UTSW |
11 |
43,116,373 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7708:Atp10b
|
UTSW |
11 |
43,092,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Atp10b
|
UTSW |
11 |
43,150,700 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8145:Atp10b
|
UTSW |
11 |
43,092,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Atp10b
|
UTSW |
11 |
43,093,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8503:Atp10b
|
UTSW |
11 |
43,113,066 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8542:Atp10b
|
UTSW |
11 |
43,121,208 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8744:Atp10b
|
UTSW |
11 |
43,121,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Atp10b
|
UTSW |
11 |
43,093,978 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8833:Atp10b
|
UTSW |
11 |
43,112,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Atp10b
|
UTSW |
11 |
43,106,811 (GRCm39) |
missense |
probably benign |
|
|
R8989:Atp10b
|
UTSW |
11 |
43,136,269 (GRCm39) |
nonsense |
probably null |
|
|
R8998:Atp10b
|
UTSW |
11 |
43,150,726 (GRCm39) |
makesense |
probably null |
|
|
R9255:Atp10b
|
UTSW |
11 |
43,107,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Atp10b
|
UTSW |
11 |
43,116,458 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9345:Atp10b
|
UTSW |
11 |
43,094,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9357:Atp10b
|
UTSW |
11 |
43,150,711 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9516:Atp10b
|
UTSW |
11 |
43,121,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9644:Atp10b
|
UTSW |
11 |
43,042,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Atp10b
|
UTSW |
11 |
43,088,339 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Atp10b
|
UTSW |
11 |
43,044,176 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCTGGTCAACACTTGGG -3'
(R):5'- TGCCTCTGATCTCCCAATGG -3'
Sequencing Primer
(F):5'- TCCAGGATACAGGGTATTACTGCC -3'
(R):5'- TCTGATCTCCCAATGGAAGGATAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation