Incidental Mutation 'R1502:Atp10b'
ID |
169382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp10b
|
Ensembl Gene |
ENSMUSG00000055415 |
Gene Name |
ATPase, class V, type 10B |
Synonyms |
9030605H24Rik, 5930426O13Rik |
MMRRC Submission |
039552-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R1502 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
43040704-43153112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 43121174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 946
(T946P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077659]
|
AlphaFold |
B1AWN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077659
AA Change: T946P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076844 Gene: ENSMUSG00000055415 AA Change: T946P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136288
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
G |
11: 109,865,471 (GRCm39) |
T329P |
probably damaging |
Het |
Adamts4 |
C |
A |
1: 171,086,559 (GRCm39) |
P784T |
probably damaging |
Het |
Adamts6 |
T |
C |
13: 104,630,145 (GRCm39) |
L1096P |
probably damaging |
Het |
Ap1b1 |
A |
G |
11: 4,990,290 (GRCm39) |
S849G |
probably benign |
Het |
Arap2 |
T |
C |
5: 62,761,747 (GRCm39) |
S1660G |
probably benign |
Het |
Brpf1 |
A |
G |
6: 113,299,381 (GRCm39) |
D1103G |
probably damaging |
Het |
Bub1 |
A |
G |
2: 127,669,339 (GRCm39) |
Y102H |
probably damaging |
Het |
Ccdc182 |
A |
G |
11: 88,185,193 (GRCm39) |
E91G |
probably benign |
Het |
Cd200r4 |
C |
T |
16: 44,653,803 (GRCm39) |
T154M |
probably damaging |
Het |
Cdh20 |
A |
G |
1: 104,881,755 (GRCm39) |
T407A |
probably benign |
Het |
Col6a2 |
T |
C |
10: 76,450,512 (GRCm39) |
I140V |
probably benign |
Het |
Csn3 |
C |
A |
5: 88,077,983 (GRCm39) |
T163K |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,874,375 (GRCm39) |
L438* |
probably null |
Het |
Dbr1 |
T |
C |
9: 99,464,440 (GRCm39) |
L289P |
probably damaging |
Het |
Ddx46 |
A |
G |
13: 55,811,122 (GRCm39) |
R573G |
possibly damaging |
Het |
Defb10 |
T |
C |
8: 22,348,972 (GRCm39) |
I10T |
possibly damaging |
Het |
Dis3l |
T |
C |
9: 64,233,069 (GRCm39) |
E136G |
possibly damaging |
Het |
Dnajb13 |
T |
C |
7: 100,156,668 (GRCm39) |
Q136R |
probably benign |
Het |
Dse |
A |
T |
10: 34,029,214 (GRCm39) |
S625R |
probably damaging |
Het |
Dvl3 |
A |
G |
16: 20,342,209 (GRCm39) |
D94G |
probably damaging |
Het |
Dynlt2a2 |
A |
G |
17: 15,187,876 (GRCm39) |
F133L |
probably benign |
Het |
E130311K13Rik |
A |
C |
3: 63,822,968 (GRCm39) |
Y225* |
probably null |
Het |
Etnppl |
A |
G |
3: 130,422,438 (GRCm39) |
I222V |
probably benign |
Het |
Evc2 |
T |
C |
5: 37,550,440 (GRCm39) |
L818P |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,205,626 (GRCm39) |
C1083* |
probably null |
Het |
Flnc |
G |
A |
6: 29,438,693 (GRCm39) |
V196I |
probably benign |
Het |
Fscn3 |
A |
G |
6: 28,435,622 (GRCm39) |
D415G |
probably benign |
Het |
Gm4861 |
A |
C |
3: 137,256,381 (GRCm39) |
V75G |
probably damaging |
Het |
Gpld1 |
A |
T |
13: 25,155,399 (GRCm39) |
T345S |
probably benign |
Het |
Grik4 |
T |
C |
9: 42,432,169 (GRCm39) |
S943G |
probably damaging |
Het |
Grik4 |
C |
T |
9: 42,502,743 (GRCm39) |
R460Q |
probably benign |
Het |
Ifi207 |
A |
C |
1: 173,556,872 (GRCm39) |
L629R |
possibly damaging |
Het |
Ift52 |
G |
A |
2: 162,871,782 (GRCm39) |
|
probably null |
Het |
Insl3 |
A |
G |
8: 72,142,876 (GRCm39) |
D79G |
probably damaging |
Het |
Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
Lag3 |
T |
C |
6: 124,886,206 (GRCm39) |
Y249C |
probably damaging |
Het |
Lipe |
T |
C |
7: 25,097,572 (GRCm39) |
N124D |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,791,906 (GRCm39) |
Y412H |
probably damaging |
Het |
Lrtm2 |
A |
G |
6: 119,294,235 (GRCm39) |
Y299H |
probably benign |
Het |
Lypd4 |
T |
C |
7: 24,566,253 (GRCm39) |
T24A |
probably benign |
Het |
Magi1 |
T |
A |
6: 93,671,151 (GRCm39) |
I805F |
probably damaging |
Het |
Mfap3 |
T |
C |
11: 57,418,975 (GRCm39) |
L45P |
probably benign |
Het |
Nbea |
G |
A |
3: 55,912,310 (GRCm39) |
P1159L |
probably benign |
Het |
Ndst4 |
A |
T |
3: 125,231,407 (GRCm39) |
|
probably benign |
Het |
Notch1 |
A |
T |
2: 26,374,335 (GRCm39) |
N229K |
possibly damaging |
Het |
Nova1 |
A |
G |
12: 46,767,615 (GRCm39) |
I102T |
unknown |
Het |
Npepps |
T |
C |
11: 97,109,401 (GRCm39) |
E725G |
possibly damaging |
Het |
Or11g27 |
A |
T |
14: 50,771,234 (GRCm39) |
M122L |
possibly damaging |
Het |
Or13a1 |
T |
C |
6: 116,471,242 (GRCm39) |
I224T |
probably damaging |
Het |
Or5l14 |
T |
C |
2: 87,792,379 (GRCm39) |
N286D |
probably damaging |
Het |
Or6c69c |
T |
C |
10: 129,910,741 (GRCm39) |
I154T |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,784,858 (GRCm39) |
W51R |
probably damaging |
Het |
Pde8a |
T |
C |
7: 80,942,007 (GRCm39) |
S149P |
probably damaging |
Het |
Pgap6 |
A |
G |
17: 26,339,290 (GRCm39) |
T535A |
possibly damaging |
Het |
Phkb |
T |
A |
8: 86,785,968 (GRCm39) |
L1052Q |
possibly damaging |
Het |
Pou5f2 |
T |
A |
13: 78,173,370 (GRCm39) |
L104Q |
probably benign |
Het |
Pramel32 |
T |
A |
4: 88,546,269 (GRCm39) |
I358F |
probably benign |
Het |
Psme2b |
A |
T |
11: 48,836,576 (GRCm39) |
W124R |
probably damaging |
Het |
Ptk2b |
G |
A |
14: 66,400,529 (GRCm39) |
S762L |
possibly damaging |
Het |
Ptprs |
T |
C |
17: 56,744,992 (GRCm39) |
N248S |
probably benign |
Het |
Rgs22 |
G |
A |
15: 36,080,997 (GRCm39) |
T705I |
probably damaging |
Het |
Rnf123 |
T |
C |
9: 107,945,709 (GRCm39) |
|
probably null |
Het |
Sel1l2 |
A |
T |
2: 140,231,515 (GRCm39) |
I13N |
probably damaging |
Het |
Slc39a4 |
T |
C |
15: 76,500,793 (GRCm39) |
T57A |
probably benign |
Het |
Smpdl3a |
T |
G |
10: 57,685,187 (GRCm39) |
V319G |
probably damaging |
Het |
Syt9 |
T |
C |
7: 107,035,694 (GRCm39) |
L237P |
probably damaging |
Het |
Tbc1d16 |
G |
T |
11: 119,044,830 (GRCm39) |
A536E |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,739,777 (GRCm39) |
D558G |
probably damaging |
Het |
Tdpoz2 |
A |
T |
3: 93,559,453 (GRCm39) |
M173K |
probably benign |
Het |
Tek |
A |
G |
4: 94,669,339 (GRCm39) |
I113M |
probably damaging |
Het |
Tmem50a |
A |
T |
4: 134,636,980 (GRCm39) |
D50E |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,983,862 (GRCm39) |
V10E |
possibly damaging |
Het |
Vmn1r172 |
C |
T |
7: 23,359,681 (GRCm39) |
R189* |
probably null |
Het |
Vmn2r63 |
A |
T |
7: 42,578,015 (GRCm39) |
D174E |
possibly damaging |
Het |
Zc3h10 |
A |
T |
10: 128,380,151 (GRCm39) |
M402K |
probably damaging |
Het |
Zfp109 |
T |
C |
7: 23,927,588 (GRCm39) |
H615R |
probably damaging |
Het |
Zfp982 |
A |
C |
4: 147,597,126 (GRCm39) |
H161P |
probably benign |
Het |
Zhx1 |
A |
G |
15: 57,917,992 (GRCm39) |
F85L |
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 |
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 |
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'- CAGTTGCCATCTTGCAACAGCC -3'
(R):5'- GTGTCTTCCCATCAATGACCAGTCC -3'
Sequencing Primer
(F):5'- ATCTTGCAACAGCCACTTCTAC -3'
(R):5'- TGACCAGTCCAATTTCAGGAG -3'
|
Posted On |
2014-04-13 |