Incidental Mutation 'R8914:Atp9a'
| ID |
678801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
068766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 168479420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[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 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 |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5330417H12Rik |
C |
T |
7: 107,223,922 (GRCm39) |
E51K |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,561,215 (GRCm39) |
D146G |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,000,843 (GRCm39) |
C205* |
probably null |
Het |
| Ap3s2 |
A |
G |
7: 79,564,911 (GRCm39) |
I86T |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bcl11b |
C |
A |
12: 107,883,163 (GRCm39) |
R384L |
probably damaging |
Het |
| Bltp3a |
T |
G |
17: 28,105,887 (GRCm39) |
D804E |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,208 (GRCm39) |
D1657E |
probably damaging |
Het |
| Cabyr |
C |
A |
18: 12,884,077 (GRCm39) |
T188N |
probably damaging |
Het |
| Capn5 |
C |
A |
7: 97,784,997 (GRCm39) |
W159L |
probably damaging |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,503,087 (GRCm39) |
Y206N |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,854,080 (GRCm39) |
S514T |
unknown |
Het |
| Cdk14 |
G |
T |
5: 5,086,515 (GRCm39) |
H286Q |
possibly damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,345,112 (GRCm39) |
H141Q |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,390,665 (GRCm39) |
S109P |
possibly damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,916,192 (GRCm39) |
R126* |
probably null |
Het |
| Dpys |
C |
A |
15: 39,720,619 (GRCm39) |
R47L |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,152,090 (GRCm39) |
V361A |
probably benign |
Het |
| Epha7 |
T |
G |
4: 28,963,892 (GRCm39) |
D962E |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Fyb2 |
T |
C |
4: 104,857,700 (GRCm39) |
S626P |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,600,393 (GRCm39) |
V442D |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,422,188 (GRCm39) |
I973F |
probably damaging |
Het |
| Igkv1-99 |
A |
C |
6: 68,519,340 (GRCm39) |
K99T |
|
Het |
| Igkv6-14 |
C |
T |
6: 70,412,180 (GRCm39) |
V35I |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Klk1b9 |
C |
T |
7: 43,628,925 (GRCm39) |
T143I |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Mettl15 |
A |
C |
2: 108,967,625 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,299,595 (GRCm39) |
V1813A |
|
Het |
| Mrps30 |
A |
G |
13: 118,523,755 (GRCm39) |
Y6H |
possibly damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,329,710 (GRCm39) |
I176K |
probably benign |
Het |
| Nckap5l |
C |
T |
15: 99,323,761 (GRCm39) |
G914D |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,089 (GRCm39) |
E930* |
probably null |
Het |
| Nuggc |
G |
A |
14: 65,879,354 (GRCm39) |
V705I |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,718 (GRCm39) |
K376M |
probably damaging |
Het |
| Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,004 (GRCm39) |
L166F |
probably damaging |
Het |
| Or51l14 |
T |
A |
7: 103,101,090 (GRCm39) |
L182Q |
probably damaging |
Het |
| Or5g27 |
A |
G |
2: 85,410,056 (GRCm39) |
T158A |
possibly damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,759 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c200-ps1 |
C |
A |
10: 128,871,372 (GRCm39) |
M2I |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,691,962 (GRCm39) |
Y217C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,821,371 (GRCm39) |
S328P |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,440,133 (GRCm39) |
S236T |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,854 (GRCm39) |
T72A |
probably benign |
Het |
| Ptprb |
C |
A |
10: 116,158,567 (GRCm39) |
S546* |
probably null |
Het |
| Ranbp9 |
A |
G |
13: 43,578,560 (GRCm39) |
I171T |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,326,587 (GRCm39) |
L160* |
probably null |
Het |
| Rfxap |
T |
C |
3: 54,715,042 (GRCm39) |
T19A |
probably benign |
Het |
| Sctr |
T |
A |
1: 119,959,386 (GRCm39) |
F95I |
probably benign |
Het |
| Sf3b3 |
T |
A |
8: 111,540,439 (GRCm39) |
Q994L |
probably benign |
Het |
| Slfn9 |
A |
T |
11: 82,872,132 (GRCm39) |
I868N |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,631,405 (GRCm39) |
C986S |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,272,847 (GRCm39) |
L245Q |
unknown |
Het |
| Trim27 |
A |
G |
13: 21,364,993 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ubxn2a |
T |
C |
12: 4,930,754 (GRCm39) |
D202G |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,607,122 (GRCm39) |
K36R |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,293,604 (GRCm39) |
T252A |
|
Het |
| Vmn1r73 |
C |
A |
7: 11,490,328 (GRCm39) |
H49N |
probably damaging |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,143 (GRCm39) |
V694I |
probably benign |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,983 (GRCm39) |
F853L |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,405,024 (GRCm39) |
H126Q |
probably benign |
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 |
|
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 |
|
|
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'- GTTAGTAGCAGGAGTTTGCCAG -3'
(R):5'- AGGGAGCACCATCATGTACG -3'
Sequencing Primer
(F):5'- AGCAGGAGTTTGCCAGATGTG -3'
(R):5'- ATCATGTACGGGGCGCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation