Incidental Mutation 'R7538:Atp10b'
ID |
583740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp10b
|
Ensembl Gene |
ENSMUSG00000055415 |
Gene Name |
ATPase, class V, type 10B |
Synonyms |
9030605H24Rik, 5930426O13Rik |
MMRRC Submission |
045610-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R7538 (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 G
at 43116373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 907
(I907V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077659]
|
AlphaFold |
B1AWN4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077659
AA Change: I907V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000076844 Gene: ENSMUSG00000055415 AA Change: I907V
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (77/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
C |
A |
9: 30,864,766 (GRCm39) |
P419H |
probably damaging |
Het |
Adgra3 |
C |
T |
5: 50,118,792 (GRCm39) |
V919I |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,303,213 (GRCm39) |
V113I |
probably damaging |
Het |
Akr1d1 |
T |
A |
6: 37,513,043 (GRCm39) |
I113K |
probably benign |
Het |
Alx3 |
A |
T |
3: 107,511,680 (GRCm39) |
I230F |
probably damaging |
Het |
Apob |
A |
T |
12: 8,052,219 (GRCm39) |
D1220V |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,721,796 (GRCm39) |
L2083P |
probably damaging |
Het |
B4galnt3 |
G |
T |
6: 120,271,384 (GRCm39) |
S46* |
probably null |
Het |
Bfsp1 |
A |
C |
2: 143,673,755 (GRCm39) |
|
probably null |
Het |
Cant1 |
G |
A |
11: 118,302,291 (GRCm39) |
R9W |
possibly damaging |
Het |
Ccdc88a |
A |
T |
11: 29,413,370 (GRCm39) |
H636L |
probably benign |
Het |
Cfi |
G |
A |
3: 129,652,464 (GRCm39) |
R297H |
probably benign |
Het |
Cherp |
T |
A |
8: 73,216,263 (GRCm39) |
Q749L |
|
Het |
Clec10a |
A |
G |
11: 70,060,604 (GRCm39) |
D153G |
probably benign |
Het |
Cnga1 |
T |
C |
5: 72,769,723 (GRCm39) |
K99E |
probably benign |
Het |
Cyp2r1 |
A |
T |
7: 114,162,002 (GRCm39) |
V64D |
probably damaging |
Het |
Dact3 |
T |
A |
7: 16,609,443 (GRCm39) |
W32R |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,692,753 (GRCm39) |
C88R |
probably damaging |
Het |
Dock8 |
A |
T |
19: 25,135,782 (GRCm39) |
D1200V |
probably damaging |
Het |
Drosha |
C |
G |
15: 12,926,329 (GRCm39) |
S1262W |
probably damaging |
Het |
Dtnb |
T |
C |
12: 3,823,611 (GRCm39) |
M592T |
possibly damaging |
Het |
Eef2k |
T |
A |
7: 120,491,215 (GRCm39) |
V567E |
probably benign |
Het |
Fem1b |
A |
G |
9: 62,718,449 (GRCm39) |
S47P |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,180,019 (GRCm39) |
E2864G |
probably benign |
Het |
Fscn2 |
A |
G |
11: 120,258,152 (GRCm39) |
N358S |
possibly damaging |
Het |
Fsip2 |
T |
C |
2: 82,818,894 (GRCm39) |
S4876P |
possibly damaging |
Het |
Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,328,603 (GRCm39) |
Y410H |
probably damaging |
Het |
Gucy2c |
C |
T |
6: 136,686,742 (GRCm39) |
G831D |
probably damaging |
Het |
Hars1 |
A |
T |
18: 36,904,194 (GRCm39) |
D228E |
probably benign |
Het |
Hdhd5 |
T |
C |
6: 120,498,257 (GRCm39) |
D114G |
possibly damaging |
Het |
Kcna2 |
A |
G |
3: 107,011,884 (GRCm39) |
Y155C |
probably benign |
Het |
Klc1 |
A |
G |
12: 111,751,879 (GRCm39) |
K441R |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,759,041 (GRCm39) |
L936P |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,979,238 (GRCm39) |
V1197A |
probably benign |
Het |
Mthfsd |
C |
T |
8: 121,825,525 (GRCm39) |
A349T |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,050,427 (GRCm39) |
R123W |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,553,427 (GRCm39) |
I4289F |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,566,747 (GRCm39) |
T1924I |
unknown |
Het |
Mybpc3 |
A |
C |
2: 90,950,832 (GRCm39) |
D220A |
probably damaging |
Het |
Neb |
A |
T |
2: 52,146,587 (GRCm39) |
|
probably null |
Het |
Nectin2 |
A |
G |
7: 19,464,544 (GRCm39) |
W287R |
probably damaging |
Het |
Nipsnap1 |
A |
T |
11: 4,834,089 (GRCm39) |
T114S |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,124,115 (GRCm39) |
S102P |
probably benign |
Het |
Olfml2b |
A |
T |
1: 170,477,402 (GRCm39) |
K179I |
possibly damaging |
Het |
Or4a80 |
G |
T |
2: 89,582,665 (GRCm39) |
P169H |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,235,773 (GRCm39) |
M1403V |
probably benign |
Het |
Phf7 |
T |
C |
14: 30,960,386 (GRCm39) |
D284G |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,609,534 (GRCm39) |
T319A |
possibly damaging |
Het |
Pik3ip1 |
A |
T |
11: 3,283,558 (GRCm39) |
I189F |
probably damaging |
Het |
Pik3r1 |
T |
A |
13: 101,825,914 (GRCm39) |
T371S |
probably damaging |
Het |
Prmt7 |
A |
G |
8: 106,964,018 (GRCm39) |
D304G |
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,294,248 (GRCm39) |
V818A |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,959,305 (GRCm39) |
E185G |
probably damaging |
Het |
Ptprz1 |
T |
G |
6: 22,999,895 (GRCm39) |
F662V |
possibly damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,803,411 (GRCm39) |
F70L |
probably benign |
Het |
Rcor1 |
A |
T |
12: 111,034,271 (GRCm39) |
|
probably null |
Het |
Rnasel |
A |
G |
1: 153,630,306 (GRCm39) |
K274R |
probably benign |
Het |
Rsbn1l |
G |
A |
5: 21,101,455 (GRCm39) |
T695I |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sema3a |
T |
C |
5: 13,611,787 (GRCm39) |
V351A |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,587 (GRCm39) |
L15P |
unknown |
Het |
Siah1a |
G |
A |
8: 87,451,840 (GRCm39) |
R215C |
probably benign |
Het |
Sin3a |
T |
A |
9: 57,011,210 (GRCm39) |
V489D |
possibly damaging |
Het |
Slc22a17 |
A |
G |
14: 55,149,575 (GRCm39) |
I208T |
probably benign |
Het |
Slc36a4 |
G |
A |
9: 15,645,511 (GRCm39) |
V313M |
possibly damaging |
Het |
Sod1 |
T |
A |
16: 90,023,114 (GRCm39) |
L145* |
probably null |
Het |
Svep1 |
T |
C |
4: 58,053,260 (GRCm39) |
N3362D |
possibly damaging |
Het |
Taf4b |
T |
C |
18: 14,946,602 (GRCm39) |
L475P |
probably damaging |
Het |
Telo2 |
G |
T |
17: 25,329,795 (GRCm39) |
T239K |
probably benign |
Het |
Trmt11 |
T |
G |
10: 30,436,870 (GRCm39) |
D290A |
probably damaging |
Het |
Trpc4 |
A |
T |
3: 54,225,516 (GRCm39) |
D955V |
possibly damaging |
Het |
Trpv6 |
T |
C |
6: 41,603,101 (GRCm39) |
N257S |
probably benign |
Het |
Usp12 |
T |
C |
5: 146,731,430 (GRCm39) |
T15A |
probably benign |
Het |
Vars2 |
G |
T |
17: 35,971,672 (GRCm39) |
Q526K |
probably damaging |
Het |
Vipas39 |
A |
G |
12: 87,310,677 (GRCm39) |
|
probably null |
Het |
Zfp689 |
A |
T |
7: 127,044,010 (GRCm39) |
C207S |
probably damaging |
Het |
Zfpl1 |
C |
A |
19: 6,134,432 (GRCm39) |
E18* |
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 |
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 |
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'- TGTGTGCACAGACTAATACAGAGAG -3'
(R):5'- TGCTGGGCTGAATGACTTTC -3'
Sequencing Primer
(F):5'- CAGAGAGCATATTTGATTAACAGCTG -3'
(R):5'- ATCCAAGATCTCCAGAGTTGGCTG -3'
|
Posted On |
2019-10-17 |