Incidental Mutation 'R8152:Atp8a1'
| ID |
633004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8a1
|
| Ensembl Gene |
ENSMUSG00000037685 |
| Gene Name |
ATPase phospholipid transporting 8A1 |
| Synonyms |
Atp3a2, B230107D19Rik |
| MMRRC Submission |
067578-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8152 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 67919925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 380
(M380I)
|
| 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: M380I
| 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 damaging
Transcript: ENSMUST00000072971
AA Change: M380I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: M380I
| 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 |
probably damaging
Transcript: ENSMUST00000135930
AA Change: M380I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: M380I
| 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 damaging
Transcript: ENSMUST00000200955
AA Change: M380I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
AA Change: M380I
| 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 |
0.3526 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 92.4%
|
| Validation Efficiency |
99% (74/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,044,305 (GRCm39) |
L195P |
probably damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,413,460 (GRCm39) |
V548A |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,416,849 (GRCm39) |
I752T |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,260,838 (GRCm39) |
|
probably null |
Het |
| Adh6a |
G |
T |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Aldh18a1 |
A |
G |
19: 40,553,456 (GRCm39) |
S431P |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,124,410 (GRCm39) |
R310G |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,996 (GRCm39) |
V361A |
possibly damaging |
Het |
| Calcrl |
C |
T |
2: 84,169,593 (GRCm39) |
V363M |
possibly damaging |
Het |
| Camsap1 |
G |
T |
2: 25,830,253 (GRCm39) |
D490E |
probably damaging |
Het |
| Cd72 |
T |
A |
4: 43,452,601 (GRCm39) |
I131F |
possibly damaging |
Het |
| Cdh2 |
C |
T |
18: 16,762,576 (GRCm39) |
G513D |
probably benign |
Het |
| Cela1 |
T |
C |
15: 100,580,822 (GRCm39) |
T145A |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
| Cfap99 |
C |
T |
5: 34,480,735 (GRCm39) |
R462C |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,573 (GRCm39) |
S19P |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,945 (GRCm39) |
M2098K |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,532,860 (GRCm39) |
|
probably null |
Het |
| Ctsm |
C |
G |
13: 61,687,463 (GRCm39) |
V100L |
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,628,452 (GRCm39) |
C164F |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,276,688 (GRCm39) |
I84V |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,529 (GRCm39) |
D389G |
probably damaging |
Het |
| Dctd |
A |
G |
8: 48,564,725 (GRCm39) |
D9G |
probably benign |
Het |
| Fam221a |
C |
A |
6: 49,355,490 (GRCm39) |
F197L |
probably damaging |
Het |
| Fbxl4 |
T |
G |
4: 22,427,225 (GRCm39) |
C489G |
possibly damaging |
Het |
| Fmn1 |
C |
T |
2: 113,196,037 (GRCm39) |
T579M |
unknown |
Het |
| Fndc3a |
G |
A |
14: 72,811,820 (GRCm39) |
L337F |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,265,244 (GRCm39) |
|
probably null |
Het |
| Gdnf |
C |
T |
15: 7,864,243 (GRCm39) |
S218L |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,293,266 (GRCm39) |
F444L |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,056,756 (GRCm39) |
D391V |
probably damaging |
Het |
| Gys2 |
T |
C |
6: 142,373,136 (GRCm39) |
T612A |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
| Isx |
T |
C |
8: 75,616,627 (GRCm39) |
F85L |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,633 (GRCm39) |
D872G |
possibly damaging |
Het |
| Kif26b |
T |
G |
1: 178,506,794 (GRCm39) |
V290G |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,809,523 (GRCm39) |
C429R |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,476,095 (GRCm39) |
I1121L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,453,902 (GRCm39) |
F931L |
probably benign |
Het |
| Mepce |
T |
C |
5: 137,782,935 (GRCm39) |
I464V |
probably benign |
Het |
| Mpo |
G |
T |
11: 87,692,475 (GRCm39) |
V538L |
probably benign |
Het |
| Mtarc2 |
T |
A |
1: 184,573,509 (GRCm39) |
M130L |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,009,517 (GRCm39) |
K961* |
probably null |
Het |
| Myom1 |
T |
C |
17: 71,391,290 (GRCm39) |
V933A |
probably damaging |
Het |
| Nckap1l |
T |
G |
15: 103,386,957 (GRCm39) |
|
probably null |
Het |
| Ncmap |
C |
A |
4: 135,104,375 (GRCm39) |
M19I |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,073,848 (GRCm39) |
I5920F |
probably benign |
Het |
| Nnt |
C |
T |
13: 119,511,212 (GRCm39) |
V355I |
probably benign |
Het |
| Nr1i2 |
C |
T |
16: 38,073,326 (GRCm39) |
G217S |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,458,180 (GRCm39) |
R2098G |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,884,703 (GRCm39) |
T1261A |
probably benign |
Het |
| Pcgf3 |
A |
T |
5: 108,635,723 (GRCm39) |
N131I |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,541,302 (GRCm39) |
D1012N |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,914,689 (GRCm39) |
I566T |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,510,102 (GRCm39) |
A283T |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,567,079 (GRCm39) |
M77L |
possibly damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,718,711 (GRCm39) |
I222L |
probably benign |
Het |
| Rnh1 |
A |
C |
7: 140,740,617 (GRCm39) |
V446G |
probably damaging |
Het |
| Sash1 |
C |
T |
10: 8,626,805 (GRCm39) |
R193H |
possibly damaging |
Het |
| Sgf29 |
G |
T |
7: 126,271,826 (GRCm39) |
V284L |
possibly damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,057,012 (GRCm39) |
G95D |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,714 (GRCm39) |
V172A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,045,510 (GRCm39) |
V1556A |
probably benign |
Het |
| Tex15 |
G |
A |
8: 34,062,921 (GRCm39) |
E784K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,673,132 (GRCm39) |
E11224G |
unknown |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,345,572 (GRCm39) |
T1317I |
possibly damaging |
Het |
| Zfat |
C |
T |
15: 67,973,355 (GRCm39) |
A1147T |
probably benign |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zhx3 |
T |
G |
2: 160,622,695 (GRCm39) |
I491L |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,882,732 (GRCm39) |
D1061G |
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 |
|
|
|
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 |
|
|
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'- TGTGTGCCATGCATCAACAAAC -3'
(R):5'- ATACTTTTCCGGACCGTCACAC -3'
Sequencing Primer
(F):5'- TGCCATGCATCAACAAACGTATTTAC -3'
(R):5'- TTTCCGGACCGTCACACAGAATC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation