Incidental Mutation 'R7278:Atp8a1'
ID |
571540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase phospholipid transporting 8A1 |
Synonyms |
Atp3a2, B230107D19Rik |
MMRRC Submission |
045360-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7278 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67781380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1124
(S1124P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000142843]
[ENSMUST00000200955]
|
AlphaFold |
P70704 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000042215 Gene: ENSMUSG00000037685 AA Change: S1124P
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 |
probably benign
Transcript: ENSMUST00000072971
AA Change: S1124P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685 AA Change: S1124P
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: S1109P
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685 AA Change: S1109P
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: ENSMUST00000142843
|
SMART Domains |
Protein: ENSMUSP00000138599 Gene: ENSMUSG00000050010
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Shisa
|
23 |
100 |
2.6e-24 |
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 |
|
Meta Mutation Damage Score |
0.1152 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (78/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,771,237 (GRCm39) |
L142P |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,241,126 (GRCm39) |
R996S |
possibly damaging |
Het |
Abcb6 |
A |
G |
1: 75,151,017 (GRCm39) |
F558L |
possibly damaging |
Het |
Acp7 |
T |
A |
7: 28,330,307 (GRCm39) |
D2V |
unknown |
Het |
Acvr1c |
T |
C |
2: 58,174,948 (GRCm39) |
D280G |
probably damaging |
Het |
B4galnt1 |
A |
T |
10: 127,003,657 (GRCm39) |
T207S |
probably benign |
Het |
C2cd4d |
C |
A |
3: 94,271,445 (GRCm39) |
T237N |
probably benign |
Het |
C8b |
T |
C |
4: 104,637,824 (GRCm39) |
C99R |
probably damaging |
Het |
Ccnk |
C |
A |
12: 108,159,964 (GRCm39) |
Q149K |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,288,226 (GRCm39) |
D47G |
probably benign |
Het |
Chid1 |
A |
T |
7: 141,109,401 (GRCm39) |
|
probably null |
Het |
Cibar2 |
T |
A |
8: 120,895,342 (GRCm39) |
T187S |
possibly damaging |
Het |
Cmya5 |
T |
A |
13: 93,232,208 (GRCm39) |
E960V |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,932,118 (GRCm39) |
S112P |
unknown |
Het |
Cps1 |
G |
A |
1: 67,210,080 (GRCm39) |
V637I |
probably damaging |
Het |
Crispld1 |
A |
G |
1: 17,823,102 (GRCm39) |
T390A |
probably benign |
Het |
Cyp2c54 |
A |
T |
19: 40,058,697 (GRCm39) |
L245* |
probably null |
Het |
Ddr2 |
G |
T |
1: 169,812,530 (GRCm39) |
T654K |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,868,855 (GRCm39) |
|
probably null |
Het |
Elavl4 |
C |
T |
4: 110,068,622 (GRCm39) |
|
probably null |
Het |
Emilin1 |
T |
C |
5: 31,078,004 (GRCm39) |
V921A |
probably benign |
Het |
Evpl |
T |
A |
11: 116,113,939 (GRCm39) |
E1250D |
probably damaging |
Het |
Fam228a |
C |
T |
12: 4,782,790 (GRCm39) |
G101E |
probably benign |
Het |
Gemin4 |
T |
C |
11: 76,102,932 (GRCm39) |
T610A |
probably damaging |
Het |
Glis1 |
T |
C |
4: 107,292,880 (GRCm39) |
M1T |
probably null |
Het |
Gm14399 |
C |
T |
2: 174,972,252 (GRCm39) |
|
probably benign |
Het |
Gorasp2 |
C |
T |
2: 70,509,849 (GRCm39) |
T170I |
probably damaging |
Het |
Gpr37 |
A |
G |
6: 25,669,341 (GRCm39) |
V501A |
possibly damaging |
Het |
Grik4 |
T |
A |
9: 42,533,356 (GRCm39) |
Q388L |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,278,436 (GRCm39) |
D3035E |
probably damaging |
Het |
Htr4 |
A |
T |
18: 62,545,247 (GRCm39) |
N11Y |
probably benign |
Het |
Itgb2l |
A |
G |
16: 96,230,243 (GRCm39) |
S356P |
probably damaging |
Het |
Klk1b22 |
A |
G |
7: 43,764,173 (GRCm39) |
N34D |
probably benign |
Het |
Lmcd1 |
A |
G |
6: 112,287,500 (GRCm39) |
D62G |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,316,696 (GRCm39) |
G2095E |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,334,536 (GRCm39) |
E4407V |
possibly damaging |
Het |
Mcm5 |
T |
C |
8: 75,851,487 (GRCm39) |
F631L |
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,878,071 (GRCm39) |
S170G |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,239 (GRCm39) |
D1395V |
unknown |
Het |
Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,911,468 (GRCm39) |
D300G |
probably damaging |
Het |
Naa80 |
T |
C |
9: 107,460,498 (GRCm39) |
L131P |
probably damaging |
Het |
Ndst4 |
A |
G |
3: 125,231,952 (GRCm39) |
T174A |
probably benign |
Het |
Nek5 |
T |
A |
8: 22,580,500 (GRCm39) |
N406I |
probably benign |
Het |
Nr2c2 |
G |
A |
6: 92,136,359 (GRCm39) |
V400I |
probably damaging |
Het |
Or1l4 |
T |
C |
2: 37,092,092 (GRCm39) |
Y280H |
probably damaging |
Het |
Or1l4b |
G |
T |
2: 37,037,021 (GRCm39) |
V266L |
probably benign |
Het |
Or51aa2 |
A |
T |
7: 103,187,935 (GRCm39) |
Y169N |
probably benign |
Het |
Or52m1 |
T |
C |
7: 102,290,190 (GRCm39) |
S246P |
probably damaging |
Het |
Or6b1 |
G |
A |
6: 42,811,330 (GRCm39) |
|
probably null |
Het |
Or6c5c |
T |
A |
10: 129,298,620 (GRCm39) |
I25N |
probably damaging |
Het |
Parn |
T |
C |
16: 13,443,927 (GRCm39) |
|
probably null |
Het |
Pfkl |
T |
C |
10: 77,827,857 (GRCm39) |
T468A |
probably damaging |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,768,340 (GRCm39) |
I2205T |
possibly damaging |
Het |
Prss16 |
A |
T |
13: 22,187,317 (GRCm39) |
N442K |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,957,342 (GRCm39) |
S370P |
probably damaging |
Het |
Ripk3 |
G |
T |
14: 56,024,741 (GRCm39) |
Y210* |
probably null |
Het |
Rps6ka2 |
C |
A |
17: 7,539,034 (GRCm39) |
F317L |
probably damaging |
Het |
Slc13a3 |
G |
A |
2: 165,287,448 (GRCm39) |
R169W |
possibly damaging |
Het |
Slc6a21 |
T |
A |
7: 44,931,904 (GRCm39) |
I256N |
possibly damaging |
Het |
Slc6a9 |
G |
A |
4: 117,725,303 (GRCm39) |
R589Q |
probably benign |
Het |
Slc8a2 |
T |
C |
7: 15,875,077 (GRCm39) |
S442P |
probably damaging |
Het |
Snupn |
T |
A |
9: 56,890,028 (GRCm39) |
M283K |
probably damaging |
Het |
Steap3 |
A |
T |
1: 120,162,087 (GRCm39) |
M395K |
probably damaging |
Het |
Sv2b |
G |
A |
7: 74,797,402 (GRCm39) |
P331S |
probably damaging |
Het |
Tlr1 |
A |
G |
5: 65,084,115 (GRCm39) |
V154A |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,835,382 (GRCm39) |
S1580P |
probably damaging |
Het |
Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
Trav14d-3-dv8 |
G |
A |
14: 53,316,218 (GRCm39) |
R26H |
probably benign |
Het |
Trp53 |
C |
T |
11: 69,482,081 (GRCm39) |
L365F |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,029,516 (GRCm39) |
I1838N |
probably damaging |
Het |
Ugt1a5 |
A |
T |
1: 88,094,608 (GRCm39) |
K279* |
probably null |
Het |
Unc80 |
A |
G |
1: 66,591,368 (GRCm39) |
E1141G |
possibly damaging |
Het |
Vti1b |
T |
C |
12: 79,213,153 (GRCm39) |
D49G |
probably benign |
Het |
Wnt10a |
A |
T |
1: 74,832,641 (GRCm39) |
H78L |
possibly damaging |
Het |
Zfp869 |
G |
A |
8: 70,159,128 (GRCm39) |
H482Y |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,598,314 (GRCm39) |
V638A |
probably 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 |
R7218:Atp8a1
|
UTSW |
5 |
67,860,324 (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'- CTCCAAGGAATGTAAAGACAGC -3'
(R):5'- GGGAAATGGCTTCAGAAGTGTC -3'
Sequencing Primer
(F):5'- AACTGGGAGGTGGTGTAGCC -3'
(R):5'- ACAGTGGGTCTCACACTT -3'
|
Posted On |
2019-09-13 |