Incidental Mutation 'IGL01608:Atp8a1'
ID |
91877 |
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 # |
IGL01608
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 67970479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 74
(R74*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000113651]
[ENSMUST00000113652]
[ENSMUST00000135930]
[ENSMUST00000200955]
[ENSMUST00000141443]
|
AlphaFold |
P70704 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037380
AA Change: R74*
|
SMART Domains |
Protein: ENSMUSP00000042215 Gene: ENSMUSG00000037685 AA Change: R74*
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
AA Change: R74*
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685 AA Change: R74*
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: ENSMUST00000113651
AA Change: R74*
|
SMART Domains |
Protein: ENSMUSP00000109281 Gene: ENSMUSG00000037685 AA Change: R74*
Domain | Start | End | E-Value | Type |
Blast:CUB
|
46 |
87 |
4e-6 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113652
AA Change: R74*
|
SMART Domains |
Protein: ENSMUSP00000109282 Gene: ENSMUSG00000037685 AA Change: R74*
Domain | Start | End | E-Value | Type |
Blast:CUB
|
46 |
87 |
9e-6 |
BLAST |
Pfam:E1-E2_ATPase
|
104 |
175 |
6.1e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128726
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130652
|
Predicted Effect |
probably null
Transcript: ENSMUST00000135930
AA Change: R74*
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685 AA Change: R74*
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 null
Transcript: ENSMUST00000200955
AA Change: R74*
|
SMART Domains |
Protein: ENSMUSP00000144465 Gene: ENSMUSG00000037685 AA Change: R74*
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000141443
AA Change: R87*
|
SMART Domains |
Protein: ENSMUSP00000121630 Gene: ENSMUSG00000037685 AA Change: R87*
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
51 |
106 |
9.6e-22 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143013
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202248
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,038,158 (GRCm39) |
L2068Q |
probably damaging |
Het |
Abca12 |
G |
T |
1: 71,298,601 (GRCm39) |
D2340E |
probably damaging |
Het |
Adcy5 |
A |
G |
16: 35,092,535 (GRCm39) |
Y632C |
probably damaging |
Het |
Adgrb3 |
A |
G |
1: 25,592,855 (GRCm39) |
S311P |
probably damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Atf2 |
G |
T |
2: 73,649,422 (GRCm39) |
H396Q |
probably damaging |
Het |
Brpf3 |
T |
C |
17: 29,040,491 (GRCm39) |
S971P |
probably benign |
Het |
Btn1a1 |
T |
C |
13: 23,645,778 (GRCm39) |
E197G |
probably benign |
Het |
Ccdc136 |
C |
T |
6: 29,406,113 (GRCm39) |
A87V |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,630,560 (GRCm39) |
L376P |
probably damaging |
Het |
Chrm3 |
G |
A |
13: 9,928,634 (GRCm39) |
A134V |
possibly damaging |
Het |
Col19a1 |
G |
A |
1: 24,321,626 (GRCm39) |
R961C |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,837,528 (GRCm39) |
V1190A |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,389,614 (GRCm39) |
S515T |
probably benign |
Het |
Eprs1 |
T |
A |
1: 185,117,311 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,186,776 (GRCm39) |
Y1708* |
probably null |
Het |
Glt1d1 |
A |
G |
5: 127,741,746 (GRCm39) |
N148S |
possibly damaging |
Het |
Gm20425 |
T |
A |
9: 103,068,293 (GRCm39) |
I44F |
probably damaging |
Het |
Gpr22 |
T |
A |
12: 31,758,779 (GRCm39) |
K411* |
probably null |
Het |
Ipo11 |
A |
G |
13: 106,971,002 (GRCm39) |
|
probably benign |
Het |
Klri1 |
T |
A |
6: 129,675,130 (GRCm39) |
N210I |
possibly damaging |
Het |
Kmt2c |
C |
T |
5: 25,559,809 (GRCm39) |
V950M |
probably damaging |
Het |
Knop1 |
T |
C |
7: 118,445,019 (GRCm39) |
K315R |
probably benign |
Het |
Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
Lrrc32 |
T |
A |
7: 98,148,564 (GRCm39) |
V448D |
probably benign |
Het |
Met |
T |
C |
6: 17,558,729 (GRCm39) |
V1119A |
probably damaging |
Het |
Minar1 |
T |
C |
9: 89,478,551 (GRCm39) |
T832A |
probably benign |
Het |
Mipep |
T |
A |
14: 61,039,679 (GRCm39) |
I236N |
possibly damaging |
Het |
Mrpl45 |
A |
G |
11: 97,207,747 (GRCm39) |
T81A |
probably benign |
Het |
Mtbp |
G |
T |
15: 55,421,085 (GRCm39) |
E24* |
probably null |
Het |
Muc5b |
C |
T |
7: 141,400,174 (GRCm39) |
T476I |
unknown |
Het |
Mup6 |
C |
T |
4: 60,006,021 (GRCm39) |
T163I |
probably benign |
Het |
Myo1g |
T |
A |
11: 6,466,780 (GRCm39) |
I278F |
possibly damaging |
Het |
Myo9a |
A |
T |
9: 59,778,119 (GRCm39) |
K1292* |
probably null |
Het |
Nbeal1 |
T |
A |
1: 60,281,694 (GRCm39) |
|
probably benign |
Het |
Nck1 |
C |
A |
9: 100,379,440 (GRCm39) |
R270S |
probably benign |
Het |
Neb |
T |
C |
2: 52,060,548 (GRCm39) |
E6035G |
probably damaging |
Het |
Nlrp4f |
A |
C |
13: 65,343,357 (GRCm39) |
L96* |
probably null |
Het |
Or11g1 |
A |
T |
14: 50,651,910 (GRCm39) |
H303L |
probably benign |
Het |
Or4a77 |
A |
T |
2: 89,486,835 (GRCm39) |
|
probably benign |
Het |
Or51l14 |
A |
T |
7: 103,101,011 (GRCm39) |
I156F |
probably benign |
Het |
Or5t18 |
A |
C |
2: 86,636,769 (GRCm39) |
Y191* |
probably null |
Het |
Padi2 |
A |
G |
4: 140,659,541 (GRCm39) |
E282G |
probably damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,441,803 (GRCm39) |
D371G |
probably damaging |
Het |
Pcdhb8 |
A |
G |
18: 37,489,978 (GRCm39) |
D552G |
probably damaging |
Het |
Peli3 |
A |
G |
19: 4,982,855 (GRCm39) |
I270T |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,118,516 (GRCm39) |
M407V |
probably benign |
Het |
Ppm1h |
C |
T |
10: 122,777,185 (GRCm39) |
R103* |
probably null |
Het |
Rangap1 |
C |
T |
15: 81,593,705 (GRCm39) |
V457M |
probably benign |
Het |
Scube2 |
A |
G |
7: 109,442,461 (GRCm39) |
V257A |
probably benign |
Het |
Shc1 |
C |
A |
3: 89,332,156 (GRCm39) |
Q204K |
probably damaging |
Het |
Slc6a4 |
T |
A |
11: 76,917,961 (GRCm39) |
Y568N |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,923,439 (GRCm39) |
F7L |
probably benign |
Het |
St6galnac4 |
T |
A |
2: 32,484,098 (GRCm39) |
C99S |
probably damaging |
Het |
Strc |
T |
C |
2: 121,206,075 (GRCm39) |
D779G |
probably benign |
Het |
Supt6 |
A |
T |
11: 78,116,309 (GRCm39) |
Y685N |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,869,418 (GRCm39) |
T256A |
probably benign |
Het |
Vmn1r74 |
A |
T |
7: 11,581,560 (GRCm39) |
I287F |
probably damaging |
Het |
Zmym2 |
C |
A |
14: 57,185,472 (GRCm39) |
Q1035K |
possibly damaging |
Het |
Zswim3 |
G |
A |
2: 164,663,440 (GRCm39) |
R640H |
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 |
|
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 |
|
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 |
2013-12-09 |