Incidental Mutation 'R9299:Atp9a'
| ID |
704772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9299 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 168554666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000123156]
[ENSMUST00000151610]
[ENSMUST00000156397]
[ENSMUST00000156555]
[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 benign
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: ENSMUST00000123156
|
| SMART Domains |
Protein: ENSMUSP00000114868
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
29 |
112 |
8e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151610
|
| SMART Domains |
Protein: ENSMUSP00000121364
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156397
|
| SMART Domains |
Protein: ENSMUSP00000119732
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
83 |
189 |
6e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156555
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000119315
Gene: ENSMUSG00000027546
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
28 |
87 |
4e-3 |
SMART |
|
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
T |
9: 57,163,792 (GRCm39) |
R861S |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,359,042 (GRCm39) |
N588I |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,773,976 (GRCm39) |
Y1727H |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
| Alad |
C |
T |
4: 62,429,760 (GRCm39) |
|
probably null |
Het |
| Anapc15-ps |
C |
A |
10: 95,509,077 (GRCm39) |
D68Y |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,862,565 (GRCm39) |
S645P |
possibly damaging |
Het |
| B020004C17Rik |
A |
T |
14: 57,254,230 (GRCm39) |
I118F |
probably damaging |
Het |
| Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
| Cdc42bpa |
C |
A |
1: 179,972,073 (GRCm39) |
L1292I |
probably damaging |
Het |
| Clec2e |
A |
C |
6: 129,072,092 (GRCm39) |
F96V |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
| Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
| Cyp4a10 |
A |
G |
4: 115,376,947 (GRCm39) |
M104V |
probably benign |
Het |
| Cyth1 |
C |
T |
11: 118,059,837 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
| Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
| Dpcd |
C |
A |
19: 45,566,009 (GRCm39) |
Q203K |
probably damaging |
Het |
| Dph1 |
T |
A |
11: 75,070,622 (GRCm39) |
Q339L |
possibly damaging |
Het |
| Dpy19l3 |
G |
T |
7: 35,424,752 (GRCm39) |
S187* |
probably null |
Het |
| Eva1a |
G |
T |
6: 82,069,047 (GRCm39) |
A125S |
probably damaging |
Het |
| Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,563,980 (GRCm39) |
T176A |
probably benign |
Het |
| Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
| Gm12888 |
G |
A |
4: 121,182,044 (GRCm39) |
S16F |
unknown |
Het |
| Hsf5 |
T |
A |
11: 87,526,770 (GRCm39) |
C481S |
probably benign |
Het |
| Ifi211 |
T |
A |
1: 173,735,288 (GRCm39) |
Q47L |
probably damaging |
Het |
| Il17re |
A |
T |
6: 113,440,971 (GRCm39) |
M202L |
probably benign |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
| Ksr2 |
G |
A |
5: 117,885,399 (GRCm39) |
|
probably null |
Het |
| Lrtm1 |
C |
T |
14: 28,743,714 (GRCm39) |
P61S |
probably damaging |
Het |
| Ltk |
A |
T |
2: 119,584,721 (GRCm39) |
S487R |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,185,538 (GRCm39) |
D876E |
possibly damaging |
Het |
| Nalf1 |
T |
C |
8: 9,820,156 (GRCm39) |
Y288C |
probably damaging |
Het |
| Or8b39 |
A |
G |
9: 37,996,785 (GRCm39) |
T218A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,311 (GRCm39) |
N56S |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,651,885 (GRCm39) |
E118* |
probably null |
Het |
| Pcdhb4 |
G |
A |
18: 37,442,264 (GRCm39) |
A525T |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,002,204 (GRCm39) |
D617V |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
| Poteg |
A |
G |
8: 27,940,287 (GRCm39) |
Y156C |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,723,999 (GRCm39) |
S2644P |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
| Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,937,130 (GRCm39) |
V252A |
|
Het |
| Slx9 |
C |
A |
10: 77,351,535 (GRCm39) |
A14S |
possibly damaging |
Het |
| Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
| St6galnac6 |
G |
T |
2: 32,502,345 (GRCm39) |
R78L |
probably benign |
Het |
| Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,988 (GRCm39) |
|
probably benign |
Het |
| Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,504,131 (GRCm39) |
F341S |
|
Het |
| Tmem82 |
A |
T |
4: 141,343,861 (GRCm39) |
C136* |
probably null |
Het |
| Tmprss11a |
A |
T |
5: 86,570,361 (GRCm39) |
C199* |
probably null |
Het |
| Zbtb48 |
T |
C |
4: 152,105,147 (GRCm39) |
N505S |
possibly damaging |
Het |
| Zfp385b |
A |
T |
2: 77,246,115 (GRCm39) |
V304E |
probably 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 |
|
|
R9171:Atp9a
|
UTSW |
2 |
168,485,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9189:Atp9a
|
UTSW |
2 |
168,518,060 (GRCm39) |
critical splice donor site |
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'- CTTGCAATCAGAGACTTGTCGATC -3'
(R):5'- AGAGCATTGTGTTTCATCATGG -3'
Sequencing Primer
(F):5'- TCAGAGACTTGTCGATCACAGC -3'
(R):5'- CATCATGGAAATTTTGAGCGTCTGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation