Incidental Mutation 'R8145:Atp10b'
ID |
632763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp10b
|
Ensembl Gene |
ENSMUSG00000055415 |
Gene Name |
ATPase, class V, type 10B |
Synonyms |
9030605H24Rik, 5930426O13Rik |
MMRRC Submission |
067573-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R8145 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
43040704-43153112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43092949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 428
(Q428L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077659]
|
AlphaFold |
B1AWN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077659
AA Change: Q428L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000076844 Gene: ENSMUSG00000055415 AA Change: Q428L
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: 99.7%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 90.4%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg6 |
A |
T |
4: 99,634,564 (GRCm39) |
D273V |
probably damaging |
Het |
Ankk1 |
T |
A |
9: 49,327,097 (GRCm39) |
H694L |
possibly damaging |
Het |
Asb7 |
G |
T |
7: 66,309,696 (GRCm39) |
N173K |
probably benign |
Het |
Bag3 |
A |
G |
7: 128,147,612 (GRCm39) |
E409G |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,052,416 (GRCm39) |
S3039P |
probably damaging |
Het |
Bpifb2 |
T |
A |
2: 153,733,232 (GRCm39) |
V398E |
probably damaging |
Het |
Btf3l4b |
A |
T |
13: 96,217,649 (GRCm39) |
D63E |
probably benign |
Het |
Ccr6 |
T |
C |
17: 8,474,945 (GRCm39) |
V50A |
probably benign |
Het |
Cdcp3 |
G |
T |
7: 130,898,045 (GRCm39) |
V2088L |
unknown |
Het |
Cdx1 |
T |
C |
18: 61,152,995 (GRCm39) |
N204D |
probably damaging |
Het |
Ciao1 |
T |
C |
2: 127,087,726 (GRCm39) |
D203G |
possibly damaging |
Het |
Cldn7 |
A |
T |
11: 69,856,892 (GRCm39) |
Y47F |
possibly damaging |
Het |
Col6a1 |
A |
T |
10: 76,559,305 (GRCm39) |
D110E |
possibly damaging |
Het |
Cpne6 |
C |
A |
14: 55,752,025 (GRCm39) |
Q261K |
probably benign |
Het |
Crebbp |
T |
C |
16: 3,946,389 (GRCm39) |
T497A |
probably benign |
Het |
Cyp2s1 |
A |
G |
7: 25,507,467 (GRCm39) |
|
probably null |
Het |
Ddx42 |
A |
T |
11: 106,130,887 (GRCm39) |
I454F |
possibly damaging |
Het |
Ddx5 |
G |
T |
11: 106,672,911 (GRCm39) |
A538E |
probably benign |
Het |
Dnajb1 |
T |
A |
8: 84,336,944 (GRCm39) |
V238D |
probably damaging |
Het |
Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
Eif4b |
A |
G |
15: 102,001,423 (GRCm39) |
T437A |
unknown |
Het |
Eppk1 |
T |
C |
15: 75,990,900 (GRCm39) |
T1994A |
possibly damaging |
Het |
Fbxw15 |
A |
T |
9: 109,384,658 (GRCm39) |
C381S |
probably benign |
Het |
Fosl2 |
T |
A |
5: 32,310,412 (GRCm39) |
V287D |
probably damaging |
Het |
Gdpd4 |
A |
G |
7: 97,690,077 (GRCm39) |
T590A |
probably benign |
Het |
Gm49368 |
A |
G |
7: 127,712,487 (GRCm39) |
E877G |
probably null |
Het |
Grin2b |
C |
T |
6: 135,709,497 (GRCm39) |
A1350T |
probably benign |
Het |
Gzmk |
A |
G |
13: 113,308,430 (GRCm39) |
L257P |
probably damaging |
Het |
Has2 |
T |
A |
15: 56,545,175 (GRCm39) |
K142N |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,831,016 (GRCm39) |
E944G |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,629,411 (GRCm39) |
R949G |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,313,117 (GRCm39) |
E3442G |
probably damaging |
Het |
Irf9 |
T |
A |
14: 55,843,255 (GRCm39) |
C152* |
probably null |
Het |
Itga3 |
A |
G |
11: 94,943,290 (GRCm39) |
W936R |
probably damaging |
Het |
Klhl11 |
G |
T |
11: 100,354,740 (GRCm39) |
D360E |
probably damaging |
Het |
Lnx1 |
G |
A |
5: 74,846,060 (GRCm39) |
T130I |
probably benign |
Het |
Lrrc36 |
C |
T |
8: 106,170,396 (GRCm39) |
P82L |
probably damaging |
Het |
Map4k4 |
T |
C |
1: 40,039,694 (GRCm39) |
C29R |
|
Het |
Mki67 |
T |
C |
7: 135,296,065 (GRCm39) |
K2990E |
probably benign |
Het |
Mnt |
G |
A |
11: 74,733,799 (GRCm39) |
A477T |
unknown |
Het |
Mroh9 |
A |
G |
1: 162,890,096 (GRCm39) |
S214P |
probably benign |
Het |
Mrps18b |
C |
A |
17: 36,225,293 (GRCm39) |
R94L |
possibly damaging |
Het |
Myh6 |
T |
A |
14: 55,191,382 (GRCm39) |
I820F |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,913,050 (GRCm39) |
T943A |
probably benign |
Het |
Or51a25 |
C |
A |
7: 102,372,937 (GRCm39) |
L253F |
probably damaging |
Het |
Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
Papolb |
T |
C |
5: 142,514,353 (GRCm39) |
D430G |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,407,458 (GRCm39) |
H334R |
probably benign |
Het |
Pkd1l2 |
T |
A |
8: 117,781,742 (GRCm39) |
M768L |
probably benign |
Het |
Pklr |
G |
T |
3: 89,052,795 (GRCm39) |
R547L |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,716,394 (GRCm39) |
Y697C |
probably benign |
Het |
Prkcd |
T |
C |
14: 30,324,019 (GRCm39) |
T435A |
probably benign |
Het |
Rfx1 |
C |
T |
8: 84,800,657 (GRCm39) |
P86L |
probably benign |
Het |
Rnf19b |
C |
A |
4: 128,977,862 (GRCm39) |
A693D |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,317,754 (GRCm39) |
I1578T |
probably damaging |
Het |
Slamf9 |
A |
G |
1: 172,303,942 (GRCm39) |
S96G |
probably benign |
Het |
Slc17a8 |
T |
C |
10: 89,412,233 (GRCm39) |
D584G |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Slc2a7 |
C |
A |
4: 150,252,818 (GRCm39) |
T486K |
probably damaging |
Het |
Slc6a20a |
G |
A |
9: 123,466,065 (GRCm39) |
A592V |
probably damaging |
Het |
Spz1 |
T |
C |
13: 92,711,609 (GRCm39) |
D289G |
probably benign |
Het |
Sspo |
G |
A |
6: 48,444,683 (GRCm39) |
C2226Y |
possibly damaging |
Het |
Taf4b |
T |
G |
18: 14,963,085 (GRCm39) |
D608E |
probably damaging |
Het |
Tagap1 |
A |
T |
17: 7,223,526 (GRCm39) |
I390N |
probably damaging |
Het |
Tcp11l2 |
A |
G |
10: 84,444,480 (GRCm39) |
N430D |
probably damaging |
Het |
Thsd7b |
T |
C |
1: 129,688,036 (GRCm39) |
L649P |
probably damaging |
Het |
Tmprss15 |
C |
T |
16: 78,757,473 (GRCm39) |
G956R |
probably damaging |
Het |
Tnc |
G |
T |
4: 63,935,716 (GRCm39) |
Q407K |
probably benign |
Het |
Tti1 |
C |
A |
2: 157,849,509 (GRCm39) |
E577* |
probably null |
Het |
Vmn2r79 |
A |
T |
7: 86,686,862 (GRCm39) |
M748L |
probably benign |
Het |
Zbtb37 |
C |
T |
1: 160,847,654 (GRCm39) |
R451Q |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,096,455 (GRCm39) |
K325E |
probably benign |
Het |
Zfp566 |
A |
T |
7: 29,777,785 (GRCm39) |
I132N |
probably benign |
Het |
Zik1 |
C |
T |
7: 10,223,930 (GRCm39) |
G389E |
probably damaging |
Het |
Zzef1 |
A |
T |
11: 72,799,295 (GRCm39) |
K2382* |
probably null |
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 |
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 |
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'- GTGAATCTATCTCCCCTCAGGTG -3'
(R):5'- TGAGGGGTAAAGCAACTTGCC -3'
Sequencing Primer
(F):5'- AGGTGTTGATCCCGATCTCC -3'
(R):5'- GGTAAAGCAACTTGCCAAAATGC -3'
|
Posted On |
2020-06-30 |