Incidental Mutation 'R7787:Atp10b'
ID |
599604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp10b
|
Ensembl Gene |
ENSMUSG00000055415 |
Gene Name |
ATPase, class V, type 10B |
Synonyms |
9030605H24Rik, 5930426O13Rik |
MMRRC Submission |
045843-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R7787 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
43040704-43153112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 43150700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 1466
(R1466H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077659]
|
AlphaFold |
B1AWN4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077659
AA Change: R1466H
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000076844 Gene: ENSMUSG00000055415 AA Change: R1466H
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 |
|
Meta Mutation Damage Score |
0.0684 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
A |
7: 27,263,926 (GRCm39) |
I38N |
probably damaging |
Het |
Abcb4 |
G |
A |
5: 8,959,220 (GRCm39) |
V216M |
probably damaging |
Het |
Abcc2 |
G |
A |
19: 43,772,685 (GRCm39) |
V32M |
probably damaging |
Het |
Adgrb3 |
C |
A |
1: 25,471,625 (GRCm39) |
V714F |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,986,679 (GRCm39) |
D2654E |
unknown |
Het |
Ak8 |
T |
A |
2: 28,602,324 (GRCm39) |
I86N |
probably damaging |
Het |
Apob |
G |
A |
12: 8,040,780 (GRCm39) |
R635Q |
probably damaging |
Het |
Bltp1 |
A |
C |
3: 36,939,557 (GRCm39) |
H137P |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,066,866 (GRCm39) |
T252A |
unknown |
Het |
Cacna1e |
T |
A |
1: 154,358,314 (GRCm39) |
I648F |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,917,412 (GRCm39) |
D121G |
probably benign |
Het |
Cc2d1a |
C |
A |
8: 84,860,144 (GRCm39) |
Q904H |
possibly damaging |
Het |
Cd1d1 |
A |
G |
3: 86,904,903 (GRCm39) |
S212P |
probably damaging |
Het |
Cfap69 |
C |
T |
5: 5,639,260 (GRCm39) |
C638Y |
probably damaging |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Clca4a |
A |
G |
3: 144,659,594 (GRCm39) |
V754A |
probably benign |
Het |
Cnpy4 |
T |
A |
5: 138,190,900 (GRCm39) |
H187Q |
probably benign |
Het |
Cpne5 |
A |
T |
17: 29,407,261 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
T |
2: 145,767,515 (GRCm39) |
N359K |
probably benign |
Het |
Cyb561 |
A |
T |
11: 105,828,466 (GRCm39) |
L63H |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,775,676 (GRCm39) |
T540A |
probably benign |
Het |
Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
Fstl5 |
A |
C |
3: 76,337,131 (GRCm39) |
D230A |
probably damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
Hecw1 |
T |
C |
13: 14,493,494 (GRCm39) |
Q337R |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,632,343 (GRCm39) |
Y865N |
probably damaging |
Het |
Hyal6 |
A |
G |
6: 24,743,735 (GRCm39) |
Y477C |
probably damaging |
Het |
Ifi205 |
C |
T |
1: 173,842,640 (GRCm39) |
G352E |
probably damaging |
Het |
Ifi205 |
T |
A |
1: 173,842,644 (GRCm39) |
S351C |
probably damaging |
Het |
Irak3 |
C |
A |
10: 120,012,256 (GRCm39) |
Q169H |
probably benign |
Het |
Itgb1 |
T |
A |
8: 129,453,499 (GRCm39) |
N99K |
probably benign |
Het |
Kng2 |
A |
G |
16: 22,818,598 (GRCm39) |
F298S |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,192,380 (GRCm39) |
E256G |
|
Het |
Lamc3 |
T |
C |
2: 31,790,551 (GRCm39) |
I257T |
probably damaging |
Het |
Mas1 |
A |
C |
17: 13,061,374 (GRCm39) |
N16K |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,741,794 (GRCm39) |
L3855Q |
probably damaging |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Mybph |
G |
A |
1: 134,125,246 (GRCm39) |
G258D |
probably benign |
Het |
Mycbp2 |
A |
C |
14: 103,364,533 (GRCm39) |
H4358Q |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,552,208 (GRCm39) |
D1012G |
unknown |
Het |
Nub1 |
C |
A |
5: 24,913,801 (GRCm39) |
Q561K |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,107,980 (GRCm39) |
N1029S |
probably benign |
Het |
Or52x1 |
A |
T |
7: 104,853,252 (GRCm39) |
C99* |
probably null |
Het |
Or56a4 |
T |
G |
7: 104,806,401 (GRCm39) |
I163L |
probably benign |
Het |
Or5k15 |
A |
G |
16: 58,709,953 (GRCm39) |
F210S |
probably benign |
Het |
Or6e1 |
A |
G |
14: 54,520,169 (GRCm39) |
L61P |
probably damaging |
Het |
Or8g19 |
C |
T |
9: 39,055,548 (GRCm39) |
L51F |
probably benign |
Het |
Pcsk1 |
T |
A |
13: 75,280,277 (GRCm39) |
Y701N |
possibly damaging |
Het |
Pglyrp4 |
C |
G |
3: 90,640,295 (GRCm39) |
H182D |
probably damaging |
Het |
Phaf1 |
T |
G |
8: 105,957,820 (GRCm39) |
V42G |
probably damaging |
Het |
Pkp4 |
C |
A |
2: 59,152,881 (GRCm39) |
D576E |
probably damaging |
Het |
Plec |
A |
G |
15: 76,083,811 (GRCm39) |
V17A |
unknown |
Het |
Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
Pou4f1 |
A |
T |
14: 104,703,460 (GRCm39) |
M324K |
unknown |
Het |
Ppa2 |
G |
T |
3: 133,036,259 (GRCm39) |
G138W |
probably damaging |
Het |
Prob1 |
A |
T |
18: 35,785,285 (GRCm39) |
F990I |
possibly damaging |
Het |
Proser1 |
T |
A |
3: 53,380,969 (GRCm39) |
I182N |
probably damaging |
Het |
Sgk3 |
T |
C |
1: 9,952,016 (GRCm39) |
L214P |
probably damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,496,762 (GRCm39) |
S1765P |
possibly damaging |
Het |
Slc15a2 |
G |
A |
16: 36,572,228 (GRCm39) |
S712L |
probably benign |
Het |
Slc38a9 |
T |
C |
13: 112,825,880 (GRCm39) |
L106P |
probably damaging |
Het |
Slc43a2 |
G |
A |
11: 75,453,900 (GRCm39) |
R271H |
probably damaging |
Het |
Spsb4 |
T |
A |
9: 96,877,643 (GRCm39) |
I227F |
probably damaging |
Het |
Srgap3 |
C |
T |
6: 112,752,520 (GRCm39) |
M321I |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,596,418 (GRCm39) |
I340V |
probably benign |
Het |
Tbc1d5 |
T |
A |
17: 51,181,711 (GRCm39) |
R341* |
probably null |
Het |
Terf2ip |
A |
C |
8: 112,742,087 (GRCm39) |
E260D |
probably damaging |
Het |
Tert |
G |
T |
13: 73,797,051 (GRCm39) |
K1096N |
probably damaging |
Het |
Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
Ube3d |
T |
A |
9: 86,254,395 (GRCm39) |
Q362L |
possibly damaging |
Het |
Unc5c |
G |
A |
3: 141,474,313 (GRCm39) |
G295D |
probably damaging |
Het |
Wnt7b |
T |
A |
15: 85,428,112 (GRCm39) |
I117F |
probably damaging |
Het |
Zcchc7 |
T |
C |
4: 44,895,043 (GRCm39) |
|
probably null |
Het |
Zfp619 |
A |
G |
7: 39,186,226 (GRCm39) |
Q752R |
possibly damaging |
Het |
Zkscan3 |
T |
C |
13: 21,572,034 (GRCm39) |
K533E |
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 |
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 |
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'- GTACCTCAAAGAGCTCTGGC -3'
(R):5'- TTCCTGAAGGCAGTCAACCC -3'
Sequencing Primer
(F):5'- CATGTGGAAGACCGGGTTCTC -3'
(R):5'- TGAAGGCAGTCAACCCTGGTG -3'
|
Posted On |
2019-11-26 |