Incidental Mutation 'R8815:Atp10b'
ID |
672686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp10b
|
Ensembl Gene |
ENSMUSG00000055415 |
Gene Name |
ATPase, class V, type 10B |
Synonyms |
9030605H24Rik, 5930426O13Rik |
MMRRC Submission |
068650-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R8815 (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 43093978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 507
(R507S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077659]
|
AlphaFold |
B1AWN4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077659
AA Change: R507S
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000076844 Gene: ENSMUSG00000055415 AA Change: R507S
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: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
A |
T |
1: 57,421,943 (GRCm39) |
Q106H |
probably damaging |
Het |
Acad9 |
T |
C |
3: 36,139,590 (GRCm39) |
C397R |
probably damaging |
Het |
Ankfn1 |
T |
G |
11: 89,282,602 (GRCm39) |
R348S |
probably damaging |
Het |
Ankrd61 |
A |
G |
5: 143,831,336 (GRCm39) |
C28R |
probably benign |
Het |
Ano5 |
C |
T |
7: 51,194,548 (GRCm39) |
R94* |
probably null |
Het |
Apela |
A |
T |
8: 65,489,590 (GRCm39) |
F10I |
unknown |
Het |
Arhgap31 |
T |
C |
16: 38,429,790 (GRCm39) |
S362G |
probably benign |
Het |
Arhgef18 |
C |
A |
8: 3,430,410 (GRCm39) |
H94Q |
probably benign |
Het |
Astn2 |
A |
T |
4: 65,830,834 (GRCm39) |
L585Q |
possibly damaging |
Het |
Atf3 |
G |
T |
1: 190,909,564 (GRCm39) |
A35D |
probably benign |
Het |
Brip1 |
A |
C |
11: 86,080,598 (GRCm39) |
V156G |
probably benign |
Het |
Ccdc27 |
T |
A |
4: 154,111,205 (GRCm39) |
M636L |
probably benign |
Het |
Ceacam5 |
T |
A |
7: 17,493,285 (GRCm39) |
N769K |
possibly damaging |
Het |
Cklf |
C |
T |
8: 104,977,560 (GRCm39) |
|
probably benign |
Het |
Cpeb4 |
G |
A |
11: 31,870,546 (GRCm39) |
V474M |
probably damaging |
Het |
Dip2c |
T |
A |
13: 9,673,834 (GRCm39) |
C1091* |
probably null |
Het |
Eef1akmt4 |
T |
A |
16: 20,437,288 (GRCm39) |
I210N |
possibly damaging |
Het |
Fbxo38 |
A |
T |
18: 62,666,587 (GRCm39) |
H195Q |
probably damaging |
Het |
Fbxw14 |
G |
A |
9: 109,105,305 (GRCm39) |
R287* |
probably null |
Het |
Fes |
A |
G |
7: 80,033,619 (GRCm39) |
S211P |
possibly damaging |
Het |
Fry |
G |
T |
5: 150,317,603 (GRCm39) |
R861L |
possibly damaging |
Het |
Galnt12 |
A |
G |
4: 47,113,908 (GRCm39) |
|
probably benign |
Het |
Gm14226 |
G |
A |
2: 154,866,538 (GRCm39) |
W165* |
probably null |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
A |
G |
10: 51,497,079 (GRCm39) |
V488A |
probably benign |
Het |
Haus8 |
A |
T |
8: 71,705,910 (GRCm39) |
|
probably benign |
Het |
Helb |
A |
T |
10: 119,948,692 (GRCm39) |
C26S |
possibly damaging |
Het |
Icam1 |
A |
T |
9: 20,937,862 (GRCm39) |
I300F |
probably benign |
Het |
Ip6k1 |
A |
G |
9: 107,918,211 (GRCm39) |
N181S |
probably benign |
Het |
Itga2b |
C |
A |
11: 102,351,687 (GRCm39) |
R546L |
possibly damaging |
Het |
Kif27 |
A |
T |
13: 58,476,818 (GRCm39) |
Y611N |
probably damaging |
Het |
Lpcat2 |
A |
G |
8: 93,640,979 (GRCm39) |
I475V |
possibly damaging |
Het |
Lrit2 |
A |
G |
14: 36,794,487 (GRCm39) |
K517R |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,555,171 (GRCm39) |
I4085N |
|
Het |
Lrrc32 |
T |
A |
7: 98,148,242 (GRCm39) |
S341T |
probably damaging |
Het |
Lrrn2 |
T |
A |
1: 132,866,831 (GRCm39) |
I632K |
possibly damaging |
Het |
Mettl22 |
A |
G |
16: 8,300,178 (GRCm39) |
Q194R |
probably benign |
Het |
Mfhas1 |
T |
A |
8: 36,057,394 (GRCm39) |
V623E |
probably damaging |
Het |
Mitd1 |
T |
C |
1: 37,929,315 (GRCm39) |
D26G |
probably damaging |
Het |
Myo1a |
C |
T |
10: 127,546,043 (GRCm39) |
T222M |
probably benign |
Het |
Naf1 |
A |
G |
8: 67,317,333 (GRCm39) |
K275R |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,332,491 (GRCm39) |
L765P |
probably damaging |
Het |
Or12k7 |
G |
T |
2: 36,958,429 (GRCm39) |
M37I |
probably benign |
Het |
Or52a5 |
A |
G |
7: 103,427,063 (GRCm39) |
L163P |
possibly damaging |
Het |
Or5ac16 |
T |
A |
16: 59,022,264 (GRCm39) |
H175L |
possibly damaging |
Het |
Or9r3 |
T |
A |
10: 129,947,808 (GRCm39) |
I284F |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,099,347 (GRCm39) |
H622R |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,442,055 (GRCm39) |
Y455F |
probably damaging |
Het |
Pepd |
A |
G |
7: 34,671,116 (GRCm39) |
Y220C |
probably damaging |
Het |
Pias3 |
T |
C |
3: 96,607,381 (GRCm39) |
I172T |
probably damaging |
Het |
Polq |
T |
A |
16: 36,853,893 (GRCm39) |
H415Q |
probably damaging |
Het |
Pp2d1 |
A |
T |
17: 53,814,897 (GRCm39) |
M609K |
probably benign |
Het |
Ppm1m |
G |
A |
9: 106,076,237 (GRCm39) |
|
probably benign |
Het |
Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
Ptprf |
C |
A |
4: 118,095,125 (GRCm39) |
V254L |
possibly damaging |
Het |
Ripply3 |
A |
G |
16: 94,136,723 (GRCm39) |
E128G |
possibly damaging |
Het |
Rrm2 |
A |
C |
12: 24,760,470 (GRCm39) |
I185L |
possibly damaging |
Het |
Sbsn |
T |
A |
7: 30,454,227 (GRCm39) |
|
probably benign |
Het |
Sdc3 |
T |
A |
4: 130,546,336 (GRCm39) |
S232T |
probably benign |
Het |
Slx4 |
G |
C |
16: 3,803,458 (GRCm39) |
P1119A |
probably benign |
Het |
Smc5 |
C |
T |
19: 23,221,422 (GRCm39) |
R369Q |
probably damaging |
Het |
Speer4a3 |
A |
G |
5: 26,158,191 (GRCm39) |
S54P |
probably damaging |
Het |
Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
Sptbn4 |
G |
A |
7: 27,106,657 (GRCm39) |
Q924* |
probably null |
Het |
Srcap |
G |
C |
7: 127,158,037 (GRCm39) |
D2638H |
unknown |
Het |
Srsf12 |
T |
C |
4: 33,226,045 (GRCm39) |
S103P |
possibly damaging |
Het |
Tanc1 |
A |
G |
2: 59,621,185 (GRCm39) |
T335A |
possibly damaging |
Het |
Them4 |
C |
T |
3: 94,231,610 (GRCm39) |
T149I |
probably damaging |
Het |
Trpc7 |
T |
C |
13: 56,970,312 (GRCm39) |
Y424C |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,628,364 (GRCm39) |
D14599N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,698,244 (GRCm39) |
L186H |
|
Het |
Usp17lc |
T |
C |
7: 103,067,524 (GRCm39) |
F273S |
probably benign |
Het |
Vwa5b2 |
T |
C |
16: 20,419,516 (GRCm39) |
S620P |
probably 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 |
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'- GCAACCCAGATACAGTTTTCC -3'
(R):5'- GGCTCTGCTATATCCTAGAGCC -3'
Sequencing Primer
(F):5'- CCTGAAGTCTAGCATCCCCC -3'
(R):5'- GCTCTGCTATATCCTAGAGCCTTCTC -3'
|
Posted On |
2021-04-30 |