Incidental Mutation 'R7548:Atp8a1'
ID |
584298 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase phospholipid transporting 8A1 |
Synonyms |
Atp3a2, B230107D19Rik |
MMRRC Submission |
045619-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7548 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 67973071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 26
(R26*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000113651]
[ENSMUST00000113652]
[ENSMUST00000135930]
[ENSMUST00000141443]
[ENSMUST00000200955]
|
AlphaFold |
P70704 |
Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000113651
|
SMART Domains |
Protein: ENSMUSP00000109281 Gene: ENSMUSG00000037685
Domain | Start | End | E-Value | Type |
Blast:CUB
|
46 |
87 |
4e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113652
|
SMART Domains |
Protein: ENSMUSP00000109282 Gene: ENSMUSG00000037685
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 |
probably benign
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 |
probably null
Transcript: ENSMUST00000141443
AA Change: R26*
|
SMART Domains |
Protein: ENSMUSP00000121630 Gene: ENSMUSG00000037685 AA Change: R26*
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
51 |
106 |
9.6e-22 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (71/71) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519G04Rik |
G |
A |
5: 115,016,059 (GRCm39) |
S146N |
possibly damaging |
Het |
Acr |
T |
C |
15: 89,458,596 (GRCm39) |
S426P |
possibly damaging |
Het |
Arl6ip1 |
A |
T |
7: 117,725,733 (GRCm39) |
I59N |
probably damaging |
Het |
Atp2b4 |
A |
T |
1: 133,629,379 (GRCm39) |
*81K |
probably null |
Het |
Atp8b4 |
T |
A |
2: 126,231,262 (GRCm39) |
Q453L |
probably benign |
Het |
B4galt4 |
A |
G |
16: 38,574,428 (GRCm39) |
E134G |
probably damaging |
Het |
Bcl9 |
G |
A |
3: 97,113,209 (GRCm39) |
T1082I |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,409,251 (GRCm39) |
F617L |
probably benign |
Het |
Ccdc15 |
T |
C |
9: 37,188,723 (GRCm39) |
N800S |
probably benign |
Het |
Cd300ld |
T |
C |
11: 114,878,248 (GRCm39) |
D88G |
probably benign |
Het |
Ceacam2 |
A |
T |
7: 25,229,958 (GRCm39) |
V216E |
probably benign |
Het |
Cecr2 |
T |
A |
6: 120,738,675 (GRCm39) |
M356K |
|
Het |
Cenpm |
T |
C |
15: 82,128,880 (GRCm39) |
M1V |
probably null |
Het |
Ces2e |
A |
G |
8: 105,658,538 (GRCm39) |
E401G |
probably benign |
Het |
Cib3 |
C |
A |
8: 72,961,041 (GRCm39) |
L65F |
probably damaging |
Het |
Clip4 |
C |
G |
17: 72,096,963 (GRCm39) |
T29R |
probably benign |
Het |
Cnot7 |
A |
G |
8: 40,953,874 (GRCm39) |
I131T |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 9,673,415 (GRCm39) |
|
probably null |
Het |
Col11a1 |
A |
C |
3: 113,917,409 (GRCm39) |
H732P |
unknown |
Het |
Coq4 |
A |
T |
2: 29,685,420 (GRCm39) |
T145S |
possibly damaging |
Het |
Cwf19l1 |
T |
C |
19: 44,098,989 (GRCm39) |
D527G |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,923,735 (GRCm39) |
I303V |
probably damaging |
Het |
Dab2 |
C |
T |
15: 6,459,399 (GRCm39) |
T437I |
possibly damaging |
Het |
Dlc1 |
A |
G |
8: 37,051,809 (GRCm39) |
S190P |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,004,423 (GRCm39) |
L3847F |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,877,838 (GRCm39) |
E411G |
probably benign |
Het |
Dpp8 |
T |
C |
9: 64,944,517 (GRCm39) |
Y95H |
probably damaging |
Het |
Emb |
T |
A |
13: 117,408,590 (GRCm39) |
D310E |
possibly damaging |
Het |
Eml4 |
C |
A |
17: 83,732,766 (GRCm39) |
Q140K |
probably benign |
Het |
Epb41l3 |
T |
C |
17: 69,517,271 (GRCm39) |
S100P |
probably damaging |
Het |
Fat4 |
A |
T |
3: 39,035,263 (GRCm39) |
T2972S |
probably benign |
Het |
Fignl2 |
T |
C |
15: 100,951,079 (GRCm39) |
E401G |
unknown |
Het |
Fryl |
T |
A |
5: 73,349,105 (GRCm39) |
D19V |
unknown |
Het |
Gck |
C |
T |
11: 5,852,040 (GRCm39) |
G16R |
|
Het |
Gm3371 |
T |
C |
14: 44,648,145 (GRCm39) |
M1V |
probably null |
Het |
Hlcs |
T |
A |
16: 93,933,876 (GRCm39) |
K661* |
probably null |
Het |
Il17re |
C |
G |
6: 113,443,348 (GRCm39) |
P363A |
probably damaging |
Het |
Kif24 |
C |
T |
4: 41,423,601 (GRCm39) |
E217K |
possibly damaging |
Het |
Klhdc7b |
T |
C |
15: 89,272,907 (GRCm39) |
I605T |
probably damaging |
Het |
Krt31 |
T |
C |
11: 99,940,346 (GRCm39) |
T170A |
probably damaging |
Het |
Lgals3bp |
T |
C |
11: 118,287,669 (GRCm39) |
D126G |
probably benign |
Het |
Lig1 |
T |
A |
7: 13,035,344 (GRCm39) |
F601Y |
possibly damaging |
Het |
Lrp6 |
A |
G |
6: 134,484,471 (GRCm39) |
I384T |
probably damaging |
Het |
Mfap5 |
A |
T |
6: 122,502,993 (GRCm39) |
T102S |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,702,446 (GRCm39) |
F600S |
possibly damaging |
Het |
Nlrp4a |
G |
A |
7: 26,149,604 (GRCm39) |
E404K |
probably damaging |
Het |
Nme3 |
T |
C |
17: 25,115,522 (GRCm39) |
L12P |
probably damaging |
Het |
Nxpe5 |
A |
T |
5: 138,249,493 (GRCm39) |
T428S |
probably benign |
Het |
Or1e26 |
G |
A |
11: 73,479,802 (GRCm39) |
T254I |
possibly damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,430 (GRCm39) |
T191A |
probably benign |
Het |
Prr5 |
C |
A |
15: 84,641,259 (GRCm39) |
P175Q |
possibly damaging |
Het |
Psmc6 |
T |
C |
14: 45,572,375 (GRCm39) |
Y110H |
probably benign |
Het |
Pthlh |
T |
A |
6: 147,158,653 (GRCm39) |
R102S |
possibly damaging |
Het |
Ric8b |
G |
T |
10: 84,783,736 (GRCm39) |
S198I |
probably damaging |
Het |
Rrp7a |
C |
A |
15: 83,001,871 (GRCm39) |
R212S |
possibly damaging |
Het |
Rubcnl |
T |
C |
14: 75,279,792 (GRCm39) |
Y392H |
probably benign |
Het |
Sag |
G |
A |
1: 87,772,638 (GRCm39) |
V369I |
probably benign |
Het |
Sar1b |
A |
G |
11: 51,680,094 (GRCm39) |
E140G |
probably benign |
Het |
Sema3d |
T |
A |
5: 12,627,783 (GRCm39) |
M658K |
unknown |
Het |
Skor2 |
C |
T |
18: 76,948,600 (GRCm39) |
S774F |
possibly damaging |
Het |
Slc1a6 |
G |
T |
10: 78,650,265 (GRCm39) |
R501L |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,864,468 (GRCm39) |
M539V |
probably benign |
Het |
Spocd1 |
T |
C |
4: 129,823,602 (GRCm39) |
L133P |
|
Het |
Sptlc1 |
A |
T |
13: 53,521,968 (GRCm39) |
N96K |
possibly damaging |
Het |
Stox1 |
A |
T |
10: 62,501,946 (GRCm39) |
S205T |
probably damaging |
Het |
Tec |
T |
C |
5: 72,917,693 (GRCm39) |
M509V |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Ttc34 |
T |
A |
4: 154,940,816 (GRCm39) |
L499Q |
probably damaging |
Het |
Uqcc1 |
A |
G |
2: 155,751,309 (GRCm39) |
C120R |
probably damaging |
Het |
Usp39 |
C |
T |
6: 72,321,996 (GRCm39) |
S46N |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,994,724 (GRCm39) |
E220G |
probably benign |
Het |
Zfp287 |
A |
T |
11: 62,604,701 (GRCm39) |
C735* |
probably null |
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 |
|
|
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'- CTGGGAAGTCCATTTGTTTCC -3'
(R):5'- TACCATTTGTCACTAGCGGC -3'
Sequencing Primer
(F):5'- GGGAAGTCCATTTGTTTCCTTTCC -3'
(R):5'- CACTAGCGGCTGGTTATCATTAG -3'
|
Posted On |
2019-10-17 |