Incidental Mutation 'IGL02598:Atp8a1'
ID |
299976 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase phospholipid transporting 8A1 |
Synonyms |
Atp3a2, B230107D19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02598
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 67840099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000200955]
|
AlphaFold |
P70704 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037380
|
SMART Domains |
Protein: ENSMUSP00000042215 Gene: ENSMUSG00000037685
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 null
Transcript: ENSMUST00000072971
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685
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 null
Transcript: ENSMUST00000135930
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685
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 |
noncoding transcript
Transcript: ENSMUST00000155911
|
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 |
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933414I15Rik |
A |
T |
11: 50,834,448 (GRCm39) |
M1K |
probably null |
Het |
Abca13 |
C |
T |
11: 9,381,898 (GRCm39) |
T3850I |
probably damaging |
Het |
Abcc4 |
A |
T |
14: 118,905,781 (GRCm39) |
L95* |
probably null |
Het |
Acacb |
A |
G |
5: 114,384,098 (GRCm39) |
Y2209C |
probably damaging |
Het |
Acadm |
A |
G |
3: 153,644,181 (GRCm39) |
|
probably benign |
Het |
Arid2 |
G |
A |
15: 96,269,417 (GRCm39) |
V1177M |
probably damaging |
Het |
Catsperd |
A |
G |
17: 56,954,815 (GRCm39) |
|
probably null |
Het |
Cd28 |
A |
G |
1: 60,802,498 (GRCm39) |
|
probably benign |
Het |
Cep164 |
A |
G |
9: 45,682,002 (GRCm39) |
Y1934H |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,738,713 (GRCm39) |
I2377V |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,533,086 (GRCm39) |
K1581E |
probably damaging |
Het |
Dab2 |
A |
T |
15: 6,458,847 (GRCm39) |
N232I |
probably damaging |
Het |
Dyrk4 |
G |
A |
6: 126,860,982 (GRCm39) |
|
probably benign |
Het |
Efcab14 |
T |
A |
4: 115,597,631 (GRCm39) |
C75* |
probably null |
Het |
Elovl1 |
T |
C |
4: 118,288,616 (GRCm39) |
|
probably null |
Het |
Eps8l2 |
T |
G |
7: 140,934,849 (GRCm39) |
|
probably benign |
Het |
Grik1 |
A |
T |
16: 87,744,872 (GRCm39) |
V460E |
probably damaging |
Het |
Gtf2f2 |
A |
G |
14: 76,245,182 (GRCm39) |
S35P |
probably benign |
Het |
Ifi203 |
A |
G |
1: 173,762,568 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
T |
C |
1: 173,472,281 (GRCm39) |
V374A |
probably damaging |
Het |
Kics2 |
G |
A |
10: 121,575,876 (GRCm39) |
|
probably benign |
Het |
Lars1 |
A |
G |
18: 42,360,342 (GRCm39) |
S705P |
possibly damaging |
Het |
Lcmt1 |
A |
G |
7: 123,020,871 (GRCm39) |
|
probably benign |
Het |
Limd1 |
T |
C |
9: 123,345,933 (GRCm39) |
S571P |
probably benign |
Het |
Limd1 |
T |
A |
9: 123,309,236 (GRCm39) |
Y312N |
probably benign |
Het |
Lin28b |
A |
T |
10: 45,296,622 (GRCm39) |
D125E |
possibly damaging |
Het |
Lmtk3 |
T |
C |
7: 45,442,564 (GRCm39) |
S416P |
probably damaging |
Het |
Map7d3 |
T |
C |
X: 55,855,146 (GRCm39) |
T446A |
probably benign |
Het |
Masp1 |
T |
A |
16: 23,278,381 (GRCm39) |
M523L |
probably benign |
Het |
Mroh4 |
C |
A |
15: 74,483,092 (GRCm39) |
|
probably null |
Het |
Mtmr6 |
G |
A |
14: 60,537,953 (GRCm39) |
A651T |
probably damaging |
Het |
Myocd |
A |
G |
11: 65,074,296 (GRCm39) |
S738P |
probably benign |
Het |
Or10a2 |
A |
T |
7: 106,673,923 (GRCm39) |
N296I |
possibly damaging |
Het |
Or4d5 |
A |
T |
9: 40,011,861 (GRCm39) |
F308L |
probably benign |
Het |
Or52l1 |
A |
G |
7: 104,830,163 (GRCm39) |
V134A |
probably damaging |
Het |
Or5d46 |
A |
T |
2: 88,170,595 (GRCm39) |
I229F |
possibly damaging |
Het |
Or6c3b |
A |
T |
10: 129,527,142 (GRCm39) |
I256N |
possibly damaging |
Het |
Parg |
G |
T |
14: 31,936,281 (GRCm39) |
V479L |
probably damaging |
Het |
Pcdhb10 |
C |
A |
18: 37,546,834 (GRCm39) |
H637N |
possibly damaging |
Het |
Plekhg2 |
G |
A |
7: 28,059,900 (GRCm39) |
T1118I |
possibly damaging |
Het |
Podxl |
T |
C |
6: 31,501,355 (GRCm39) |
E400G |
probably damaging |
Het |
Prss54 |
C |
A |
8: 96,292,337 (GRCm39) |
V81F |
probably damaging |
Het |
Pzp |
A |
G |
6: 128,464,420 (GRCm39) |
L1369P |
probably benign |
Het |
Rfx8 |
A |
T |
1: 39,735,128 (GRCm39) |
|
probably benign |
Het |
Rgs6 |
C |
T |
12: 83,138,571 (GRCm39) |
P302S |
probably benign |
Het |
Rnf148 |
A |
C |
6: 23,654,456 (GRCm39) |
I180S |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,408,061 (GRCm39) |
D350G |
probably benign |
Het |
Slc33a1 |
C |
T |
3: 63,850,753 (GRCm39) |
G524S |
probably benign |
Het |
Slc5a7 |
A |
G |
17: 54,591,221 (GRCm39) |
V237A |
probably benign |
Het |
Spink7 |
T |
C |
18: 62,727,356 (GRCm39) |
D56G |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,303,063 (GRCm39) |
S31P |
probably damaging |
Het |
Tesl1 |
A |
T |
X: 23,773,710 (GRCm39) |
T404S |
probably benign |
Het |
Thrb |
C |
A |
14: 18,008,606 (GRCm38) |
P110Q |
possibly damaging |
Het |
Vmn2r76 |
G |
T |
7: 85,877,879 (GRCm39) |
T506K |
probably benign |
Het |
Vps45 |
A |
G |
3: 95,938,354 (GRCm39) |
L486P |
probably benign |
Het |
Zan |
G |
A |
5: 137,444,473 (GRCm39) |
T1823M |
unknown |
Het |
Zdhhc6 |
T |
A |
19: 55,302,959 (GRCm39) |
Q14L |
probably benign |
Het |
Zfp990 |
A |
T |
4: 145,263,533 (GRCm39) |
N177I |
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 |
|
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 |
|
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 |
|
Posted On |
2015-04-16 |