Incidental Mutation 'PIT4445001:Atp8a1'
ID |
555389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 |
Synonyms |
B230107D19Rik, Atp3a2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4445001 (G1)
|
Quality Score |
149.008 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
67618140-67847434 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67622660 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1145
(V1145A)
|
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: V1145A
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: V1145A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685 AA Change: V1145A
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: V1130A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685 AA Change: V1130A
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 |
|
Coding Region Coverage |
- 1x: 93.5%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 70.9%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 110,075,551 (GRCm38) |
K419E |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,509,748 (GRCm38) |
K587N |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,771,460 (GRCm38) |
M382V |
|
Het |
Agpat3 |
A |
T |
10: 78,274,093 (GRCm38) |
F341I |
possibly damaging |
Het |
Ampd2 |
A |
T |
3: 108,075,012 (GRCm38) |
L767Q |
probably damaging |
Het |
Arhgap28 |
A |
T |
17: 67,896,235 (GRCm38) |
D124E |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,260,856 (GRCm38) |
L1644P |
probably damaging |
Het |
Asic4 |
T |
C |
1: 75,451,127 (GRCm38) |
V99A |
probably benign |
Het |
Asns |
T |
A |
6: 7,689,277 (GRCm38) |
N75I |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,803,467 (GRCm38) |
D798G |
probably damaging |
Het |
BC017158 |
A |
G |
7: 128,276,534 (GRCm38) |
V243A |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,661,747 (GRCm38) |
Q577R |
probably damaging |
Het |
Cd247 |
T |
A |
1: 165,861,036 (GRCm38) |
D154E |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,476,456 (GRCm38) |
N104K |
probably damaging |
Het |
Chfr |
A |
G |
5: 110,151,677 (GRCm38) |
D312G |
possibly damaging |
Het |
Ddb1 |
C |
A |
19: 10,625,970 (GRCm38) |
L881I |
probably damaging |
Het |
Dgkh |
A |
T |
14: 78,575,942 (GRCm38) |
I1032N |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,904,267 (GRCm38) |
V942D |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,651,528 (GRCm38) |
T435A |
probably benign |
Het |
Fpr1 |
T |
C |
17: 17,876,893 (GRCm38) |
Q278R |
probably benign |
Het |
Fzr1 |
C |
T |
10: 81,369,394 (GRCm38) |
W256* |
probably null |
Het |
Gabrb1 |
T |
C |
5: 72,108,782 (GRCm38) |
S261P |
probably damaging |
Het |
Galr2 |
G |
T |
11: 116,281,648 (GRCm38) |
A55S |
probably benign |
Het |
Gbp2 |
A |
T |
3: 142,637,466 (GRCm38) |
K581N |
probably benign |
Het |
Gm7682 |
T |
G |
5: 94,448,507 (GRCm38) |
W468G |
probably benign |
Het |
Gria1 |
A |
T |
11: 57,185,838 (GRCm38) |
Y89F |
probably damaging |
Het |
Ibsp |
T |
A |
5: 104,302,304 (GRCm38) |
I26N |
possibly damaging |
Het |
Igf1r |
T |
C |
7: 68,207,463 (GRCm38) |
F1058L |
probably damaging |
Het |
Ighv1-16 |
A |
C |
12: 114,666,060 (GRCm38) |
C36G |
probably benign |
Het |
Igll1 |
T |
C |
16: 16,860,919 (GRCm38) |
T176A |
probably benign |
Het |
Ilkap |
T |
C |
1: 91,385,345 (GRCm38) |
T143A |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,793,115 (GRCm38) |
K103* |
probably null |
Het |
Mphosph9 |
A |
G |
5: 124,298,790 (GRCm38) |
I497T |
possibly damaging |
Het |
Mrgpra3 |
G |
A |
7: 47,590,160 (GRCm38) |
T6I |
possibly damaging |
Het |
Mrpl38 |
T |
C |
11: 116,132,558 (GRCm38) |
|
probably null |
Het |
Myo3a |
A |
T |
2: 22,542,415 (GRCm38) |
E813V |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 31,962,352 (GRCm38) |
K1851R |
probably damaging |
Het |
Myo7b |
G |
T |
18: 31,959,466 (GRCm38) |
Q2093K |
possibly damaging |
Het |
P3h2 |
T |
A |
16: 25,984,999 (GRCm38) |
D339V |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,335,247 (GRCm38) |
P407Q |
possibly damaging |
Het |
Plch2 |
C |
A |
4: 155,009,026 (GRCm38) |
R153L |
probably damaging |
Het |
Plppr4 |
G |
A |
3: 117,360,308 (GRCm38) |
|
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,717,777 (GRCm38) |
F1046S |
probably damaging |
Het |
Prkacb |
A |
T |
3: 146,755,691 (GRCm38) |
L107M |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,481,020 (GRCm38) |
|
probably null |
Het |
Rasl11b |
C |
A |
5: 74,197,333 (GRCm38) |
P88Q |
probably damaging |
Het |
Rcc2 |
A |
G |
4: 140,721,149 (GRCm38) |
E503G |
possibly damaging |
Het |
Rnf216 |
T |
A |
5: 143,086,003 (GRCm38) |
K407N |
probably damaging |
Het |
Scrn3 |
G |
A |
2: 73,318,329 (GRCm38) |
M81I |
possibly damaging |
Het |
Scube2 |
T |
C |
7: 109,809,180 (GRCm38) |
T687A |
probably benign |
Het |
Serpinb10 |
T |
A |
1: 107,535,998 (GRCm38) |
F3L |
probably benign |
Het |
Sgcb |
C |
T |
5: 73,639,812 (GRCm38) |
V202I |
probably damaging |
Het |
Sgce |
A |
G |
6: 4,689,654 (GRCm38) |
V429A |
possibly damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,153,164 (GRCm38) |
V574A |
probably benign |
Het |
Sncaip |
T |
C |
18: 52,868,944 (GRCm38) |
L179S |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,312,572 (GRCm38) |
D58E |
probably damaging |
Het |
Taar3 |
T |
C |
10: 23,949,688 (GRCm38) |
I44T |
possibly damaging |
Het |
Tmem87b |
G |
A |
2: 128,831,471 (GRCm38) |
V227I |
probably benign |
Het |
Tnfsf9 |
T |
C |
17: 57,105,517 (GRCm38) |
L29P |
possibly damaging |
Het |
Tnip2 |
T |
C |
5: 34,496,871 (GRCm38) |
H391R |
probably benign |
Het |
Traf5 |
A |
G |
1: 191,997,807 (GRCm38) |
Y125H |
|
Het |
Ttc23 |
T |
G |
7: 67,667,213 (GRCm38) |
I77M |
probably damaging |
Het |
Ube2l3 |
T |
C |
16: 17,160,172 (GRCm38) |
N43S |
probably benign |
Het |
Vars2 |
A |
T |
17: 35,666,211 (GRCm38) |
C142* |
probably null |
Het |
Vmn2r15 |
A |
C |
5: 109,287,142 (GRCm38) |
D565E |
probably damaging |
Het |
Vmn2r56 |
C |
T |
7: 12,715,226 (GRCm38) |
|
probably null |
Het |
Vmn2r79 |
A |
T |
7: 87,002,200 (GRCm38) |
D269V |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,425,703 (GRCm38) |
M255K |
probably benign |
Het |
Wfdc6a |
T |
A |
2: 164,579,826 (GRCm38) |
*137C |
probably null |
Het |
Wipi2 |
T |
C |
5: 142,666,884 (GRCm38) |
V417A |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,509,772 (GRCm38) |
V786L |
possibly damaging |
Het |
Zdhhc13 |
G |
A |
7: 48,795,949 (GRCm38) |
G26S |
probably benign |
Het |
Zscan25 |
T |
A |
5: 145,290,612 (GRCm38) |
V362D |
probably damaging |
Het |
|
Other mutations in Atp8a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:Atp8a1
|
APN |
5 |
67,749,143 (GRCm38) |
missense |
probably benign |
0.20 |
IGL00778:Atp8a1
|
APN |
5 |
67,659,903 (GRCm38) |
missense |
possibly damaging |
0.58 |
IGL01068:Atp8a1
|
APN |
5 |
67,667,337 (GRCm38) |
missense |
probably benign |
0.02 |
IGL01152:Atp8a1
|
APN |
5 |
67,847,206 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL01572:Atp8a1
|
APN |
5 |
67,667,651 (GRCm38) |
missense |
probably benign |
|
IGL01608:Atp8a1
|
APN |
5 |
67,813,136 (GRCm38) |
nonsense |
probably null |
|
IGL02171:Atp8a1
|
APN |
5 |
67,738,465 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02330:Atp8a1
|
APN |
5 |
67,813,177 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02381:Atp8a1
|
APN |
5 |
67,705,995 (GRCm38) |
missense |
probably benign |
|
IGL02420:Atp8a1
|
APN |
5 |
67,682,783 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02440:Atp8a1
|
APN |
5 |
67,667,434 (GRCm38) |
splice site |
probably benign |
|
IGL02598:Atp8a1
|
APN |
5 |
67,682,756 (GRCm38) |
critical splice donor site |
probably null |
|
IGL03259:Atp8a1
|
APN |
5 |
67,624,006 (GRCm38) |
splice site |
probably null |
|
IGL03336:Atp8a1
|
APN |
5 |
67,729,807 (GRCm38) |
nonsense |
probably null |
|
IGL03380:Atp8a1
|
APN |
5 |
67,732,186 (GRCm38) |
missense |
probably benign |
0.25 |
PIT4131001:Atp8a1
|
UTSW |
5 |
67,622,602 (GRCm38) |
nonsense |
probably null |
|
R0208:Atp8a1
|
UTSW |
5 |
67,774,721 (GRCm38) |
critical splice donor site |
probably null |
|
R0276:Atp8a1
|
UTSW |
5 |
67,786,673 (GRCm38) |
splice site |
probably benign |
|
R0279:Atp8a1
|
UTSW |
5 |
67,813,092 (GRCm38) |
splice site |
probably null |
|
R0329:Atp8a1
|
UTSW |
5 |
67,812,073 (GRCm38) |
splice site |
probably benign |
|
R0603:Atp8a1
|
UTSW |
5 |
67,756,696 (GRCm38) |
critical splice acceptor site |
probably null |
|
R0715:Atp8a1
|
UTSW |
5 |
67,774,725 (GRCm38) |
missense |
probably benign |
0.00 |
R0763:Atp8a1
|
UTSW |
5 |
67,659,883 (GRCm38) |
missense |
probably benign |
|
R1296:Atp8a1
|
UTSW |
5 |
67,622,706 (GRCm38) |
splice site |
probably benign |
|
R1631:Atp8a1
|
UTSW |
5 |
67,749,052 (GRCm38) |
splice site |
probably null |
|
R1764:Atp8a1
|
UTSW |
5 |
67,631,567 (GRCm38) |
missense |
probably benign |
0.14 |
R1771:Atp8a1
|
UTSW |
5 |
67,647,731 (GRCm38) |
missense |
probably damaging |
1.00 |
R1885:Atp8a1
|
UTSW |
5 |
67,747,318 (GRCm38) |
missense |
possibly damaging |
0.82 |
R1897:Atp8a1
|
UTSW |
5 |
67,738,429 (GRCm38) |
missense |
probably damaging |
1.00 |
R1968:Atp8a1
|
UTSW |
5 |
67,667,657 (GRCm38) |
missense |
probably benign |
0.05 |
R2965:Atp8a1
|
UTSW |
5 |
67,647,706 (GRCm38) |
missense |
probably benign |
0.28 |
R2966:Atp8a1
|
UTSW |
5 |
67,647,706 (GRCm38) |
missense |
probably benign |
0.28 |
R4247:Atp8a1
|
UTSW |
5 |
67,667,574 (GRCm38) |
missense |
probably damaging |
1.00 |
R4353:Atp8a1
|
UTSW |
5 |
67,769,108 (GRCm38) |
missense |
probably damaging |
1.00 |
R4400:Atp8a1
|
UTSW |
5 |
67,764,878 (GRCm38) |
missense |
probably benign |
0.13 |
R4426:Atp8a1
|
UTSW |
5 |
67,774,828 (GRCm38) |
missense |
probably benign |
0.22 |
R4523:Atp8a1
|
UTSW |
5 |
67,667,600 (GRCm38) |
missense |
probably benign |
0.00 |
R4576:Atp8a1
|
UTSW |
5 |
67,815,815 (GRCm38) |
intron |
probably benign |
|
R4622:Atp8a1
|
UTSW |
5 |
67,682,713 (GRCm38) |
intron |
probably benign |
|
R4639:Atp8a1
|
UTSW |
5 |
67,655,974 (GRCm38) |
missense |
probably benign |
0.36 |
R4664:Atp8a1
|
UTSW |
5 |
67,762,586 (GRCm38) |
missense |
possibly damaging |
0.92 |
R4732:Atp8a1
|
UTSW |
5 |
67,813,120 (GRCm38) |
missense |
probably benign |
0.07 |
R4733:Atp8a1
|
UTSW |
5 |
67,813,120 (GRCm38) |
missense |
probably benign |
0.07 |
R5071:Atp8a1
|
UTSW |
5 |
67,815,723 (GRCm38) |
missense |
probably benign |
0.29 |
R5267:Atp8a1
|
UTSW |
5 |
67,762,544 (GRCm38) |
missense |
probably damaging |
1.00 |
R5314:Atp8a1
|
UTSW |
5 |
67,705,905 (GRCm38) |
critical splice donor site |
probably null |
|
R5424:Atp8a1
|
UTSW |
5 |
67,812,100 (GRCm38) |
missense |
probably damaging |
1.00 |
R5588:Atp8a1
|
UTSW |
5 |
67,814,684 (GRCm38) |
missense |
probably damaging |
1.00 |
R5698:Atp8a1
|
UTSW |
5 |
67,767,153 (GRCm38) |
missense |
probably benign |
0.14 |
R5815:Atp8a1
|
UTSW |
5 |
67,749,071 (GRCm38) |
missense |
probably benign |
0.00 |
R5977:Atp8a1
|
UTSW |
5 |
67,747,285 (GRCm38) |
missense |
possibly damaging |
0.94 |
R6285:Atp8a1
|
UTSW |
5 |
67,667,607 (GRCm38) |
missense |
possibly damaging |
0.68 |
R6341:Atp8a1
|
UTSW |
5 |
67,682,927 (GRCm38) |
missense |
possibly damaging |
0.88 |
R6736:Atp8a1
|
UTSW |
5 |
67,667,617 (GRCm38) |
missense |
probably damaging |
1.00 |
R6746:Atp8a1
|
UTSW |
5 |
67,751,049 (GRCm38) |
missense |
probably benign |
0.00 |
R6887:Atp8a1
|
UTSW |
5 |
67,738,451 (GRCm38) |
missense |
probably benign |
0.21 |
R6946:Atp8a1
|
UTSW |
5 |
67,622,625 (GRCm38) |
missense |
possibly damaging |
0.50 |
R6970:Atp8a1
|
UTSW |
5 |
67,738,462 (GRCm38) |
missense |
probably damaging |
1.00 |
R7035:Atp8a1
|
UTSW |
5 |
67,781,030 (GRCm38) |
missense |
probably benign |
0.00 |
R7218:Atp8a1
|
UTSW |
5 |
67,702,981 (GRCm38) |
missense |
|
|
R7278:Atp8a1
|
UTSW |
5 |
67,624,037 (GRCm38) |
missense |
|
|
R7530:Atp8a1
|
UTSW |
5 |
67,745,628 (GRCm38) |
missense |
|
|
R7548:Atp8a1
|
UTSW |
5 |
67,815,728 (GRCm38) |
nonsense |
probably null |
|
R7594:Atp8a1
|
UTSW |
5 |
67,651,592 (GRCm38) |
missense |
|
|
R7722:Atp8a1
|
UTSW |
5 |
67,622,698 (GRCm38) |
critical splice acceptor site |
probably null |
|
R8152:Atp8a1
|
UTSW |
5 |
67,762,582 (GRCm38) |
missense |
|
|
R9015:Atp8a1
|
UTSW |
5 |
67,729,907 (GRCm38) |
missense |
|
|
R9052:Atp8a1
|
UTSW |
5 |
67,778,958 (GRCm38) |
critical splice donor site |
probably null |
|
R9086:Atp8a1
|
UTSW |
5 |
67,774,816 (GRCm38) |
missense |
|
|
R9169:Atp8a1
|
UTSW |
5 |
67,667,601 (GRCm38) |
missense |
|
|
R9183:Atp8a1
|
UTSW |
5 |
67,767,035 (GRCm38) |
missense |
|
|
R9245:Atp8a1
|
UTSW |
5 |
67,622,634 (GRCm38) |
missense |
unknown |
|
R9401:Atp8a1
|
UTSW |
5 |
67,749,149 (GRCm38) |
missense |
|
|
R9607:Atp8a1
|
UTSW |
5 |
67,659,907 (GRCm38) |
missense |
|
|
R9664:Atp8a1
|
UTSW |
5 |
67,732,181 (GRCm38) |
missense |
|
|
X0019:Atp8a1
|
UTSW |
5 |
67,749,141 (GRCm38) |
missense |
probably benign |
0.22 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCGCTATGTCCTTGAAATTCATC -3'
(R):5'- TGCTGCTGAACTTGTGTCTC -3'
Sequencing Primer
(F):5'- GAGATGAGCTCAGATCCACTTTTTC -3'
(R):5'- GTGTCTCTTCCAGATGTTAAACG -3'
|
Posted On |
2019-06-07 |