Incidental Mutation 'R7218:Atp8a1'
ID |
561580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase phospholipid transporting 8A1 |
Synonyms |
Atp3a2, B230107D19Rik |
MMRRC Submission |
045290-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7218 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 67860324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 717
(D717V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000200955]
|
AlphaFold |
P70704 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000042215 Gene: ENSMUSG00000037685 AA Change: D717V
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
38 |
101 |
9.8e-27 |
PFAM |
Pfam:E1-E2_ATPase
|
106 |
371 |
3e-11 |
PFAM |
Pfam:HAD
|
406 |
810 |
3.8e-23 |
PFAM |
Pfam:Cation_ATPase
|
485 |
585 |
6e-14 |
PFAM |
Pfam:PhoLip_ATPase_C
|
827 |
1079 |
8.2e-82 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072971
AA Change: D717V
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685 AA Change: D717V
Domain | Start | End | E-Value | Type |
Pfam:E1-E2_ATPase
|
104 |
375 |
2.1e-22 |
PFAM |
Pfam:Hydrolase
|
403 |
798 |
2.2e-14 |
PFAM |
Pfam:HAD
|
406 |
795 |
3e-18 |
PFAM |
Pfam:Hydrolase_like2
|
470 |
570 |
4.5e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135930
AA Change: D702V
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685 AA Change: D702V
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
38 |
101 |
1.1e-26 |
PFAM |
Pfam:E1-E2_ATPase
|
106 |
371 |
8.6e-14 |
PFAM |
Pfam:HAD
|
406 |
795 |
3.6e-23 |
PFAM |
Pfam:Cation_ATPase
|
470 |
570 |
1.2e-13 |
PFAM |
Pfam:PhoLip_ATPase_C
|
812 |
1064 |
8.4e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200955
|
SMART Domains |
Protein: ENSMUSP00000144465 Gene: ENSMUSG00000037685
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
38 |
101 |
7.5e-25 |
PFAM |
Pfam:E1-E2_ATPase
|
106 |
371 |
3.7e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (69/69) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutant mice are viable, fertile and phenotypically normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C23Rik |
T |
C |
17: 46,043,977 (GRCm39) |
T94A |
unknown |
Het |
1700025G04Rik |
T |
C |
1: 151,791,259 (GRCm39) |
R101G |
probably damaging |
Het |
6430548M08Rik |
T |
A |
8: 120,872,322 (GRCm39) |
S83R |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,293,799 (GRCm39) |
S574P |
probably benign |
Het |
Ank |
A |
T |
15: 27,544,407 (GRCm39) |
Y56F |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,308,191 (GRCm39) |
D74G |
probably benign |
Het |
Apaf1 |
T |
A |
10: 90,872,864 (GRCm39) |
T738S |
probably damaging |
Het |
Apcs |
A |
T |
1: 172,722,231 (GRCm39) |
D38E |
possibly damaging |
Het |
Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
Baiap2l1 |
A |
G |
5: 144,212,687 (GRCm39) |
S443P |
probably benign |
Het |
Bmal1 |
A |
T |
7: 112,886,390 (GRCm39) |
H149L |
probably damaging |
Het |
Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
C1qtnf6 |
T |
C |
15: 78,411,574 (GRCm39) |
E34G |
probably benign |
Het |
Chil3 |
A |
C |
3: 106,067,853 (GRCm39) |
|
probably null |
Het |
Chmp4c |
T |
A |
3: 10,432,198 (GRCm39) |
L36Q |
probably damaging |
Het |
Chrna2 |
T |
A |
14: 66,381,320 (GRCm39) |
|
probably null |
Het |
Clec1a |
C |
T |
6: 129,413,918 (GRCm39) |
C57Y |
probably damaging |
Het |
Clec7a |
G |
T |
6: 129,445,885 (GRCm39) |
T95K |
probably damaging |
Het |
Csf1r |
C |
A |
18: 61,263,396 (GRCm39) |
S926R |
probably damaging |
Het |
Dnajc9 |
A |
G |
14: 20,438,507 (GRCm39) |
I61T |
probably benign |
Het |
Extl1 |
T |
G |
4: 134,087,080 (GRCm39) |
S493R |
probably benign |
Het |
Fance |
A |
G |
17: 28,545,148 (GRCm39) |
D143G |
probably benign |
Het |
Fcho2 |
C |
T |
13: 98,890,121 (GRCm39) |
|
probably null |
Het |
Filip1 |
T |
C |
9: 79,725,356 (GRCm39) |
S1088G |
probably benign |
Het |
Gnat1 |
A |
C |
9: 107,553,184 (GRCm39) |
M319R |
possibly damaging |
Het |
Gpr132 |
A |
T |
12: 112,816,049 (GRCm39) |
V259E |
probably damaging |
Het |
Gprc5d |
T |
A |
6: 135,093,452 (GRCm39) |
M152L |
probably benign |
Het |
Hif3a |
C |
T |
7: 16,784,513 (GRCm39) |
R244H |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,952,649 (GRCm39) |
S322P |
possibly damaging |
Het |
Il33 |
T |
A |
19: 29,936,325 (GRCm39) |
F229I |
probably damaging |
Het |
Il4ra |
A |
G |
7: 125,174,950 (GRCm39) |
D386G |
probably benign |
Het |
Ino80 |
G |
T |
2: 119,288,608 (GRCm39) |
H33N |
probably benign |
Het |
Ip6k1 |
A |
G |
9: 107,922,781 (GRCm39) |
D228G |
unknown |
Het |
Mamdc2 |
C |
T |
19: 23,424,974 (GRCm39) |
A40T |
probably benign |
Het |
Meis3 |
T |
C |
7: 15,918,626 (GRCm39) |
V357A |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,371,282 (GRCm39) |
T4199A |
probably benign |
Het |
Myo7b |
A |
T |
18: 32,114,054 (GRCm39) |
M1099K |
probably benign |
Het |
Mzb1 |
A |
T |
18: 35,780,975 (GRCm39) |
H104Q |
probably benign |
Het |
Nfatc2 |
A |
G |
2: 168,413,184 (GRCm39) |
L167P |
probably benign |
Het |
Numa1 |
A |
T |
7: 101,650,117 (GRCm39) |
S1283C |
probably benign |
Het |
Nup98 |
T |
G |
7: 101,841,107 (GRCm39) |
|
probably null |
Het |
Or13p4 |
T |
C |
4: 118,547,215 (GRCm39) |
I145V |
probably benign |
Het |
Or5p55 |
T |
C |
7: 107,566,874 (GRCm39) |
L90P |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,386,091 (GRCm39) |
T1243A |
possibly damaging |
Het |
Pramel39-ps |
C |
A |
5: 94,451,113 (GRCm39) |
V338F |
probably benign |
Het |
Ptpro |
C |
T |
6: 137,431,596 (GRCm39) |
R1152W |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,389,284 (GRCm39) |
T1270A |
probably damaging |
Het |
Pwwp2b |
A |
C |
7: 138,836,049 (GRCm39) |
T497P |
probably damaging |
Het |
Rab44 |
T |
A |
17: 29,358,418 (GRCm39) |
V202E |
|
Het |
Rbfox1 |
C |
T |
16: 7,111,947 (GRCm39) |
T191I |
probably damaging |
Het |
Rufy4 |
A |
G |
1: 74,172,174 (GRCm39) |
K299R |
probably damaging |
Het |
Snip1 |
T |
A |
4: 124,966,712 (GRCm39) |
S381T |
probably damaging |
Het |
Spen |
T |
C |
4: 141,199,961 (GRCm39) |
I2889V |
possibly damaging |
Het |
Spopfm2 |
A |
T |
3: 94,082,856 (GRCm39) |
H318Q |
possibly damaging |
Het |
St3gal3 |
T |
A |
4: 117,814,639 (GRCm39) |
D218V |
|
Het |
Sun1 |
A |
G |
5: 139,212,442 (GRCm39) |
T70A |
unknown |
Het |
Tbc1d23 |
C |
T |
16: 56,990,745 (GRCm39) |
V678M |
probably damaging |
Het |
Tdh |
T |
A |
14: 63,733,206 (GRCm39) |
Y195F |
probably damaging |
Het |
Tescl |
C |
T |
7: 24,033,286 (GRCm39) |
R13H |
possibly damaging |
Het |
Tfap2c |
T |
A |
2: 172,399,277 (GRCm39) |
M508K |
probably benign |
Het |
Trappc4 |
A |
G |
9: 44,316,587 (GRCm39) |
M136T |
probably benign |
Het |
Tyk2 |
A |
G |
9: 21,016,350 (GRCm39) |
C1207R |
probably damaging |
Het |
Ugt2b36 |
T |
C |
5: 87,229,398 (GRCm39) |
Y355C |
probably damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,745,572 (GRCm39) |
H270L |
probably benign |
Het |
Vmn2r20 |
G |
A |
6: 123,363,074 (GRCm39) |
P570L |
probably damaging |
Het |
Wnk1 |
A |
C |
6: 119,979,234 (GRCm39) |
Y284* |
probably null |
Het |
Yars2 |
C |
T |
16: 16,121,182 (GRCm39) |
A112V |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,995,024 (GRCm39) |
N470S |
probably damaging |
Het |
Zfp747l1 |
A |
T |
7: 126,983,852 (GRCm39) |
S417T |
probably benign |
Het |
Zfp879 |
A |
C |
11: 50,723,508 (GRCm39) |
V516G |
possibly damaging |
Het |
|
Other mutations in Atp8a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:Atp8a1
|
APN |
5 |
67,906,486 (GRCm39) |
missense |
probably benign |
0.20 |
IGL00778:Atp8a1
|
APN |
5 |
67,817,246 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01068:Atp8a1
|
APN |
5 |
67,824,680 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01152:Atp8a1
|
APN |
5 |
68,004,549 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01572:Atp8a1
|
APN |
5 |
67,824,994 (GRCm39) |
missense |
probably benign |
|
IGL01608:Atp8a1
|
APN |
5 |
67,970,479 (GRCm39) |
nonsense |
probably null |
|
IGL02171:Atp8a1
|
APN |
5 |
67,895,808 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02330:Atp8a1
|
APN |
5 |
67,970,520 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02381:Atp8a1
|
APN |
5 |
67,863,338 (GRCm39) |
missense |
probably benign |
|
IGL02420:Atp8a1
|
APN |
5 |
67,840,126 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02440:Atp8a1
|
APN |
5 |
67,824,777 (GRCm39) |
splice site |
probably benign |
|
IGL02598:Atp8a1
|
APN |
5 |
67,840,099 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03259:Atp8a1
|
APN |
5 |
67,781,349 (GRCm39) |
splice site |
probably null |
|
IGL03336:Atp8a1
|
APN |
5 |
67,887,150 (GRCm39) |
nonsense |
probably null |
|
IGL03380:Atp8a1
|
APN |
5 |
67,889,529 (GRCm39) |
missense |
probably benign |
0.25 |
PIT4131001:Atp8a1
|
UTSW |
5 |
67,779,945 (GRCm39) |
nonsense |
probably null |
|
PIT4445001:Atp8a1
|
UTSW |
5 |
67,780,003 (GRCm39) |
missense |
|
|
R0208:Atp8a1
|
UTSW |
5 |
67,932,064 (GRCm39) |
critical splice donor site |
probably null |
|
R0276:Atp8a1
|
UTSW |
5 |
67,944,016 (GRCm39) |
splice site |
probably benign |
|
R0279:Atp8a1
|
UTSW |
5 |
67,970,435 (GRCm39) |
splice site |
probably null |
|
R0329:Atp8a1
|
UTSW |
5 |
67,969,416 (GRCm39) |
splice site |
probably benign |
|
R0603:Atp8a1
|
UTSW |
5 |
67,914,039 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0715:Atp8a1
|
UTSW |
5 |
67,932,068 (GRCm39) |
missense |
probably benign |
0.00 |
R0763:Atp8a1
|
UTSW |
5 |
67,817,226 (GRCm39) |
missense |
probably benign |
|
R1296:Atp8a1
|
UTSW |
5 |
67,780,049 (GRCm39) |
splice site |
probably benign |
|
R1631:Atp8a1
|
UTSW |
5 |
67,906,395 (GRCm39) |
splice site |
probably null |
|
R1764:Atp8a1
|
UTSW |
5 |
67,788,910 (GRCm39) |
missense |
probably benign |
0.14 |
R1771:Atp8a1
|
UTSW |
5 |
67,805,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Atp8a1
|
UTSW |
5 |
67,904,661 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1897:Atp8a1
|
UTSW |
5 |
67,895,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Atp8a1
|
UTSW |
5 |
67,825,000 (GRCm39) |
missense |
probably benign |
0.05 |
R2965:Atp8a1
|
UTSW |
5 |
67,805,049 (GRCm39) |
missense |
probably benign |
0.28 |
R2966:Atp8a1
|
UTSW |
5 |
67,805,049 (GRCm39) |
missense |
probably benign |
0.28 |
R4247:Atp8a1
|
UTSW |
5 |
67,824,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Atp8a1
|
UTSW |
5 |
67,926,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R4400:Atp8a1
|
UTSW |
5 |
67,922,221 (GRCm39) |
missense |
probably benign |
0.13 |
R4426:Atp8a1
|
UTSW |
5 |
67,932,171 (GRCm39) |
missense |
probably benign |
0.22 |
R4523:Atp8a1
|
UTSW |
5 |
67,824,943 (GRCm39) |
missense |
probably benign |
0.00 |
R4576:Atp8a1
|
UTSW |
5 |
67,973,158 (GRCm39) |
intron |
probably benign |
|
R4622:Atp8a1
|
UTSW |
5 |
67,840,056 (GRCm39) |
intron |
probably benign |
|
R4639:Atp8a1
|
UTSW |
5 |
67,813,317 (GRCm39) |
missense |
probably benign |
0.36 |
R4664:Atp8a1
|
UTSW |
5 |
67,919,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4732:Atp8a1
|
UTSW |
5 |
67,970,463 (GRCm39) |
missense |
probably benign |
0.07 |
R4733:Atp8a1
|
UTSW |
5 |
67,970,463 (GRCm39) |
missense |
probably benign |
0.07 |
R5071:Atp8a1
|
UTSW |
5 |
67,973,066 (GRCm39) |
missense |
probably benign |
0.29 |
R5267:Atp8a1
|
UTSW |
5 |
67,919,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R5314:Atp8a1
|
UTSW |
5 |
67,863,248 (GRCm39) |
critical splice donor site |
probably null |
|
R5424:Atp8a1
|
UTSW |
5 |
67,969,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Atp8a1
|
UTSW |
5 |
67,972,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Atp8a1
|
UTSW |
5 |
67,924,496 (GRCm39) |
missense |
probably benign |
0.14 |
R5815:Atp8a1
|
UTSW |
5 |
67,906,414 (GRCm39) |
missense |
probably benign |
0.00 |
R5977:Atp8a1
|
UTSW |
5 |
67,904,628 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6285:Atp8a1
|
UTSW |
5 |
67,824,950 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6341:Atp8a1
|
UTSW |
5 |
67,840,270 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6736:Atp8a1
|
UTSW |
5 |
67,824,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Atp8a1
|
UTSW |
5 |
67,908,392 (GRCm39) |
missense |
probably benign |
0.00 |
R6887:Atp8a1
|
UTSW |
5 |
67,895,794 (GRCm39) |
missense |
probably benign |
0.21 |
R6946:Atp8a1
|
UTSW |
5 |
67,779,968 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6970:Atp8a1
|
UTSW |
5 |
67,895,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R7035:Atp8a1
|
UTSW |
5 |
67,938,373 (GRCm39) |
missense |
probably benign |
0.00 |
R7278:Atp8a1
|
UTSW |
5 |
67,781,380 (GRCm39) |
missense |
|
|
R7530:Atp8a1
|
UTSW |
5 |
67,902,971 (GRCm39) |
missense |
|
|
R7548:Atp8a1
|
UTSW |
5 |
67,973,071 (GRCm39) |
nonsense |
probably null |
|
R7594:Atp8a1
|
UTSW |
5 |
67,808,935 (GRCm39) |
missense |
|
|
R7722:Atp8a1
|
UTSW |
5 |
67,780,041 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8152:Atp8a1
|
UTSW |
5 |
67,919,925 (GRCm39) |
missense |
|
|
R9015:Atp8a1
|
UTSW |
5 |
67,887,250 (GRCm39) |
missense |
|
|
R9052:Atp8a1
|
UTSW |
5 |
67,936,301 (GRCm39) |
critical splice donor site |
probably null |
|
R9086:Atp8a1
|
UTSW |
5 |
67,932,159 (GRCm39) |
missense |
|
|
R9169:Atp8a1
|
UTSW |
5 |
67,824,944 (GRCm39) |
missense |
|
|
R9183:Atp8a1
|
UTSW |
5 |
67,924,378 (GRCm39) |
missense |
|
|
R9245:Atp8a1
|
UTSW |
5 |
67,779,977 (GRCm39) |
missense |
unknown |
|
R9401:Atp8a1
|
UTSW |
5 |
67,906,492 (GRCm39) |
missense |
|
|
R9607:Atp8a1
|
UTSW |
5 |
67,817,250 (GRCm39) |
missense |
|
|
R9664:Atp8a1
|
UTSW |
5 |
67,889,524 (GRCm39) |
missense |
|
|
X0019:Atp8a1
|
UTSW |
5 |
67,906,484 (GRCm39) |
missense |
probably benign |
0.22 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGCAGCTTTCCTGTCCC -3'
(R):5'- TCGCAATCAAATCCTCTCTAGG -3'
Sequencing Primer
(F):5'- TTTAGTTACCACAGTGGCAAAGCG -3'
(R):5'- GCAATCAAATCCTCTCTAGGTGTTTG -3'
|
Posted On |
2019-06-26 |