Incidental Mutation 'R9281:Atp10b'
| ID |
703642 |
| 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: 0.109)
|
| Stock # |
R9281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
43040704-43153112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43116458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 935
(T935I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077659]
|
| AlphaFold |
B1AWN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077659
AA Change: T935I
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: T935I
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,184 (GRCm39) |
I102M |
possibly damaging |
Het |
| 2700049A03Rik |
G |
A |
12: 71,205,687 (GRCm39) |
V444I |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Ano1 |
A |
T |
7: 144,149,318 (GRCm39) |
Y848N |
probably damaging |
Het |
| Arap2 |
C |
T |
5: 62,906,848 (GRCm39) |
R57H |
probably damaging |
Het |
| Bcl11b |
A |
G |
12: 107,882,257 (GRCm39) |
L686P |
possibly damaging |
Het |
| Bmp5 |
T |
C |
9: 75,683,856 (GRCm39) |
V161A |
probably benign |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,607 (GRCm39) |
E196G |
probably benign |
Het |
| Cacng8 |
T |
A |
7: 3,460,608 (GRCm39) |
F130L |
probably damaging |
Het |
| Cap1 |
A |
G |
4: 122,766,226 (GRCm39) |
M4T |
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,751,413 (GRCm39) |
K886E |
probably benign |
Het |
| Cdhr2 |
A |
C |
13: 54,881,703 (GRCm39) |
T1112P |
possibly damaging |
Het |
| Clcn4 |
A |
T |
7: 7,294,813 (GRCm39) |
M316K |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,732,920 (GRCm39) |
D1099E |
unknown |
Het |
| Csmd3 |
A |
C |
15: 47,460,272 (GRCm39) |
N2595K |
|
Het |
| Ctdspl2 |
A |
G |
2: 121,841,063 (GRCm39) |
H451R |
probably benign |
Het |
| Cybrd1 |
A |
T |
2: 70,968,735 (GRCm39) |
T203S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,078,240 (GRCm39) |
N312S |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,929,983 (GRCm39) |
S38T |
probably benign |
Het |
| Dync2i1 |
G |
A |
12: 116,211,677 (GRCm39) |
R277* |
probably null |
Het |
| Ercc8 |
G |
T |
13: 108,320,364 (GRCm39) |
A317S |
probably benign |
Het |
| Fndc3a |
T |
C |
14: 72,799,097 (GRCm39) |
T629A |
probably benign |
Het |
| Frmpd1 |
G |
T |
4: 45,284,127 (GRCm39) |
A983S |
probably benign |
Het |
| Gm14325 |
T |
A |
2: 177,473,597 (GRCm39) |
Y495F |
probably damaging |
Het |
| Gm5773 |
A |
T |
3: 93,680,891 (GRCm39) |
T188S |
probably benign |
Het |
| Gpsm1 |
C |
A |
2: 26,214,488 (GRCm39) |
N243K |
probably damaging |
Het |
| Inpp4a |
C |
G |
1: 37,410,850 (GRCm39) |
H339Q |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 117,995,728 (GRCm39) |
V1003A |
probably damaging |
Het |
| Lrrc25 |
T |
A |
8: 71,073,246 (GRCm39) |
M276K |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mcmdc2 |
G |
A |
1: 9,994,425 (GRCm39) |
G406D |
probably damaging |
Het |
| Mfhas1 |
G |
T |
8: 36,057,951 (GRCm39) |
A809S |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,378,294 (GRCm39) |
D376E |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,707,566 (GRCm39) |
H464Q |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,046,443 (GRCm39) |
C302* |
probably null |
Het |
| Myo6 |
T |
A |
9: 80,162,164 (GRCm39) |
Y300* |
probably null |
Het |
| Myzap |
T |
C |
9: 71,493,482 (GRCm39) |
D31G |
unknown |
Het |
| Nfatc1 |
T |
C |
18: 80,741,190 (GRCm39) |
Y270C |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,152,961 (GRCm39) |
S434P |
probably benign |
Het |
| Or13p3 |
A |
G |
4: 118,566,592 (GRCm39) |
|
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,480,133 (GRCm39) |
M144L |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,813,375 (GRCm39) |
T165S |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,300,313 (GRCm39) |
V1590A |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,495 (GRCm39) |
L180P |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,536,758 (GRCm39) |
D109N |
probably benign |
Het |
| Ptger3 |
A |
G |
3: 157,273,090 (GRCm39) |
M146V |
probably benign |
Het |
| Pts |
A |
G |
9: 50,433,853 (GRCm39) |
V96A |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,834 (GRCm39) |
E685G |
probably benign |
Het |
| Rab27a |
C |
T |
9: 72,992,278 (GRCm39) |
T102I |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,153,545 (GRCm39) |
L2253P |
probably damaging |
Het |
| Rock1 |
C |
T |
18: 10,080,479 (GRCm39) |
A1022T |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,363,259 (GRCm39) |
N259K |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,472,056 (GRCm39) |
Y604* |
probably null |
Het |
| Slc12a6 |
A |
G |
2: 112,164,754 (GRCm39) |
N151S |
probably benign |
Het |
| Slc26a5 |
T |
A |
5: 22,019,051 (GRCm39) |
D596V |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,891,051 (GRCm39) |
V140A |
probably benign |
Het |
| Spta1 |
T |
G |
1: 174,047,444 (GRCm39) |
V1696G |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,261,927 (GRCm39) |
D179E |
probably damaging |
Het |
| Stpg4 |
T |
C |
17: 87,702,671 (GRCm39) |
D182G |
probably benign |
Het |
| Synm |
A |
T |
7: 67,386,048 (GRCm39) |
L538* |
probably null |
Het |
| Tigar |
A |
T |
6: 127,068,157 (GRCm39) |
L87H |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,962 (GRCm39) |
V110F |
possibly damaging |
Het |
| Trav6n-5 |
T |
A |
14: 53,342,744 (GRCm39) |
L94* |
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,955,902 (GRCm39) |
H422R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,619,926 (GRCm39) |
V15914A |
probably damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,303,953 (GRCm39) |
C826F |
probably damaging |
Het |
| Wwc1 |
C |
G |
11: 35,780,211 (GRCm39) |
G248A |
probably benign |
Het |
| Zfp120 |
G |
A |
2: 149,959,615 (GRCm39) |
H258Y |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,607,731 (GRCm39) |
Y1681H |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,579,045 (GRCm39) |
L150P |
possibly damaging |
Het |
| Zscan4-ps1 |
G |
T |
7: 10,799,589 (GRCm39) |
F433L |
possibly damaging |
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 |
|
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 |
|
R9393:Atp10b
|
UTSW |
11 |
43,063,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATTTGACCTAACTGTGCCCC -3'
(R):5'- TAGGGAAGCTCAAACTCCCTG -3'
Sequencing Primer
(F):5'- GACCTAACTGTGCCCCCATGTC -3'
(R):5'- CTCCCTGGTAAGTAGCAATCAAAGTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation