Incidental Mutation 'R9171:Atp9a'
| ID |
696385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
068976-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9171 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 168485780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000178504]
|
| AlphaFold |
O70228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029060
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
108 |
368 |
7.4e-21 |
PFAM |
|
Pfam:Hydrolase
|
385 |
797 |
1.5e-19 |
PFAM |
|
Pfam:HAD
|
388 |
794 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
464 |
579 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109175
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
92 |
352 |
7.2e-21 |
PFAM |
|
Pfam:Hydrolase
|
369 |
781 |
1.4e-19 |
PFAM |
|
Pfam:HAD
|
372 |
778 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
448 |
563 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109176
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
Pfam:PhoLip_ATPase_N
|
97 |
163 |
1.9e-20 |
PFAM |
|
Pfam:E1-E2_ATPase
|
166 |
418 |
5.8e-13 |
PFAM |
|
Pfam:Hydrolase
|
443 |
855 |
2.8e-13 |
PFAM |
|
Pfam:HAD
|
446 |
852 |
2.4e-14 |
PFAM |
|
Pfam:Cation_ATPase
|
522 |
635 |
1.5e-6 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
869 |
1098 |
1.7e-53 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109176
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
Pfam:PhoLip_ATPase_N
|
97 |
163 |
1.9e-20 |
PFAM |
|
Pfam:E1-E2_ATPase
|
166 |
418 |
5.8e-13 |
PFAM |
|
Pfam:Hydrolase
|
443 |
855 |
2.8e-13 |
PFAM |
|
Pfam:HAD
|
446 |
852 |
2.4e-14 |
PFAM |
|
Pfam:Cation_ATPase
|
522 |
635 |
1.5e-6 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
869 |
1098 |
1.7e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109177
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
70 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
90 |
350 |
7.2e-21 |
PFAM |
|
Pfam:Hydrolase
|
367 |
779 |
1.4e-19 |
PFAM |
|
Pfam:HAD
|
370 |
776 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
446 |
561 |
3.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178504
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
108 |
368 |
7.4e-21 |
PFAM |
|
Pfam:Hydrolase
|
385 |
797 |
1.5e-19 |
PFAM |
|
Pfam:HAD
|
388 |
794 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
464 |
579 |
3.4e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
T |
A |
15: 41,732,512 (GRCm39) |
T185S |
possibly damaging |
Het |
| Acad10 |
T |
A |
5: 121,767,981 (GRCm39) |
H823L |
probably benign |
Het |
| Acly |
A |
G |
11: 100,407,657 (GRCm39) |
V231A |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,381 (GRCm39) |
N1026S |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd65 |
A |
G |
4: 155,875,800 (GRCm39) |
E7G |
probably benign |
Het |
| Ap1g2 |
T |
C |
14: 55,336,581 (GRCm39) |
H771R |
probably benign |
Het |
| Atxn10 |
T |
G |
15: 85,277,557 (GRCm39) |
H341Q |
probably damaging |
Het |
| Cacng1 |
A |
G |
11: 107,607,060 (GRCm39) |
L53P |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,161,810 (GRCm39) |
N2014S |
probably benign |
Het |
| Cma1 |
T |
C |
14: 56,181,189 (GRCm39) |
N72S |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,807,953 (GRCm39) |
G2551D |
unknown |
Het |
| Cyp20a1 |
T |
G |
1: 60,415,343 (GRCm39) |
L323R |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,894,918 (GRCm39) |
V3643E |
probably damaging |
Het |
| Dnmt3l |
A |
C |
10: 77,895,518 (GRCm39) |
D352A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,589,670 (GRCm39) |
N462K |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,513,794 (GRCm39) |
Q450R |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,330,339 (GRCm39) |
S152F |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,800,708 (GRCm39) |
T2977A |
probably benign |
Het |
| Eid3 |
C |
T |
10: 82,703,316 (GRCm39) |
T259M |
probably damaging |
Het |
| Eif2ak3 |
T |
G |
6: 70,835,419 (GRCm39) |
D115E |
probably damaging |
Het |
| Ezh2 |
A |
C |
6: 47,531,134 (GRCm39) |
D183E |
probably benign |
Het |
| Fam114a1 |
A |
C |
5: 65,191,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,891,607 (GRCm39) |
T385I |
probably benign |
Het |
| Gm6882 |
C |
A |
7: 21,161,254 (GRCm39) |
E205* |
probably null |
Het |
| Hexim2 |
G |
A |
11: 103,029,822 (GRCm39) |
W291* |
probably null |
Het |
| Hnrnpab |
A |
C |
11: 51,492,710 (GRCm39) |
S265R |
unknown |
Het |
| Hsd17b1 |
A |
G |
11: 100,969,832 (GRCm39) |
N115D |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,641 (GRCm39) |
D593G |
possibly damaging |
Het |
| Inf2 |
C |
A |
12: 112,567,965 (GRCm39) |
C172* |
probably null |
Het |
| Invs |
A |
T |
4: 48,398,149 (GRCm39) |
N445I |
possibly damaging |
Het |
| Izumo2 |
A |
G |
7: 44,369,184 (GRCm39) |
Q186R |
probably benign |
Het |
| Kcnj15 |
T |
C |
16: 95,097,481 (GRCm39) |
F368L |
probably benign |
Het |
| Kctd20 |
A |
G |
17: 29,185,866 (GRCm39) |
D403G |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,486,309 (GRCm39) |
V4748G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,393,140 (GRCm39) |
S762P |
probably benign |
Het |
| Man2c1 |
C |
T |
9: 57,044,317 (GRCm39) |
Q324* |
probably null |
Het |
| Mgam |
A |
G |
6: 40,745,146 (GRCm39) |
I1804M |
possibly damaging |
Het |
| Mmp28 |
A |
G |
11: 83,335,661 (GRCm39) |
V279A |
probably benign |
Het |
| Mrpl22 |
T |
C |
11: 58,070,185 (GRCm39) |
V164A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,952,329 (GRCm39) |
H3913Q |
possibly damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,329 (GRCm39) |
T8A |
probably benign |
Het |
| Or8g50 |
C |
T |
9: 39,648,516 (GRCm39) |
T135I |
probably benign |
Het |
| Paqr6 |
A |
G |
3: 88,273,066 (GRCm39) |
T46A |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,178,550 (GRCm39) |
D1789G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,748 (GRCm39) |
T96A |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,801,725 (GRCm39) |
V497E |
probably benign |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Rsph4a |
C |
T |
10: 33,785,438 (GRCm39) |
Q450* |
probably null |
Het |
| Sh3d19 |
C |
T |
3: 85,990,918 (GRCm39) |
|
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,547,687 (GRCm39) |
T259A |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,680,672 (GRCm39) |
T404A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,141,844 (GRCm39) |
C50S |
possibly damaging |
Het |
| Stx8 |
A |
C |
11: 67,875,471 (GRCm39) |
N99H |
possibly damaging |
Het |
| Tgfbi |
A |
T |
13: 56,773,526 (GRCm39) |
M175L |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,043,232 (GRCm39) |
C536S |
possibly damaging |
Het |
| Tprn |
A |
G |
2: 25,152,799 (GRCm39) |
S34G |
probably benign |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,124 (GRCm39) |
D78V |
possibly damaging |
Het |
|
| Other mutations in Atp9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Atp9a
|
APN |
2 |
168,482,600 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01594:Atp9a
|
APN |
2 |
168,532,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01911:Atp9a
|
APN |
2 |
168,495,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Atp9a
|
APN |
2 |
168,494,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02639:Atp9a
|
APN |
2 |
168,491,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Atp9a
|
APN |
2 |
168,494,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03294:Atp9a
|
APN |
2 |
168,531,225 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03310:Atp9a
|
APN |
2 |
168,481,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Atp9a
|
UTSW |
2 |
168,552,776 (GRCm39) |
nonsense |
probably null |
|
|
R0194:Atp9a
|
UTSW |
2 |
168,485,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0427:Atp9a
|
UTSW |
2 |
168,482,617 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0508:Atp9a
|
UTSW |
2 |
168,491,446 (GRCm39) |
splice site |
probably null |
|
|
R1611:Atp9a
|
UTSW |
2 |
168,515,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Atp9a
|
UTSW |
2 |
168,495,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2330:Atp9a
|
UTSW |
2 |
168,481,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Atp9a
|
UTSW |
2 |
168,552,746 (GRCm39) |
splice site |
probably benign |
|
|
R2404:Atp9a
|
UTSW |
2 |
168,517,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2881:Atp9a
|
UTSW |
2 |
168,548,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2882:Atp9a
|
UTSW |
2 |
168,548,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Atp9a
|
UTSW |
2 |
168,531,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Atp9a
|
UTSW |
2 |
168,491,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Atp9a
|
UTSW |
2 |
168,503,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Atp9a
|
UTSW |
2 |
168,523,917 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4583:Atp9a
|
UTSW |
2 |
168,531,280 (GRCm39) |
splice site |
probably null |
|
|
R4626:Atp9a
|
UTSW |
2 |
168,481,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Atp9a
|
UTSW |
2 |
168,479,592 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4679:Atp9a
|
UTSW |
2 |
168,503,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4738:Atp9a
|
UTSW |
2 |
168,510,101 (GRCm39) |
missense |
probably benign |
|
|
R5191:Atp9a
|
UTSW |
2 |
168,503,983 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5216:Atp9a
|
UTSW |
2 |
168,516,808 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5280:Atp9a
|
UTSW |
2 |
168,481,908 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5509:Atp9a
|
UTSW |
2 |
168,481,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Atp9a
|
UTSW |
2 |
168,532,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5807:Atp9a
|
UTSW |
2 |
168,495,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5926:Atp9a
|
UTSW |
2 |
168,548,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Atp9a
|
UTSW |
2 |
168,476,790 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6244:Atp9a
|
UTSW |
2 |
168,531,272 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6307:Atp9a
|
UTSW |
2 |
168,510,090 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6345:Atp9a
|
UTSW |
2 |
168,518,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6442:Atp9a
|
UTSW |
2 |
168,491,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6459:Atp9a
|
UTSW |
2 |
168,509,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Atp9a
|
UTSW |
2 |
168,516,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Atp9a
|
UTSW |
2 |
168,516,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Atp9a
|
UTSW |
2 |
168,496,140 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7271:Atp9a
|
UTSW |
2 |
168,576,047 (GRCm39) |
|
|
|
|
R7422:Atp9a
|
UTSW |
2 |
168,490,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Atp9a
|
UTSW |
2 |
168,517,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7827:Atp9a
|
UTSW |
2 |
168,547,114 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7833:Atp9a
|
UTSW |
2 |
168,516,777 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7854:Atp9a
|
UTSW |
2 |
168,490,523 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7963:Atp9a
|
UTSW |
2 |
168,516,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Atp9a
|
UTSW |
2 |
168,517,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8904:Atp9a
|
UTSW |
2 |
168,547,097 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8914:Atp9a
|
UTSW |
2 |
168,479,420 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9129:Atp9a
|
UTSW |
2 |
168,517,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9149:Atp9a
|
UTSW |
2 |
168,575,988 (GRCm39) |
intron |
probably benign |
|
|
R9189:Atp9a
|
UTSW |
2 |
168,518,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9299:Atp9a
|
UTSW |
2 |
168,554,666 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9303:Atp9a
|
UTSW |
2 |
168,517,163 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9305:Atp9a
|
UTSW |
2 |
168,517,163 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTACCTGGTGCCTACTCAC -3'
(R):5'- TCAAAGGTCTCCTTGTCATGTC -3'
Sequencing Primer
(F):5'- TACTCACCTGGGCAGTGTG -3'
(R):5'- GTTTCAATTAAAATGAGAACGGCGCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation