Incidental Mutation 'R0715:Atp8a1'
ID |
62811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase phospholipid transporting 8A1 |
Synonyms |
Atp3a2, B230107D19Rik |
MMRRC Submission |
038898-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0715 (G1)
|
Quality Score |
127 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 67932068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 240
(H240Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000200955]
|
AlphaFold |
P70704 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037380
AA Change: H240Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042215 Gene: ENSMUSG00000037685 AA Change: H240Q
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
AA Change: H240Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685 AA Change: H240Q
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 |
noncoding transcript
Transcript: ENSMUST00000130652
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135930
AA Change: H240Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685 AA Change: H240Q
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
AA Change: H240Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144465 Gene: ENSMUSG00000037685 AA Change: H240Q
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 |
0.0857 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
98% (61/62) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
A |
G |
11: 58,179,176 (GRCm39) |
Y170C |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 69,036,161 (GRCm39) |
V167I |
probably benign |
Het |
Agl |
A |
G |
3: 116,545,825 (GRCm39) |
Y1324H |
probably damaging |
Het |
Arhgef37 |
G |
T |
18: 61,641,860 (GRCm39) |
Q170K |
probably damaging |
Het |
Asah2 |
A |
G |
19: 31,994,176 (GRCm39) |
S390P |
probably damaging |
Het |
Btbd16 |
T |
A |
7: 130,390,557 (GRCm39) |
N151K |
probably damaging |
Het |
Ccdc73 |
T |
A |
2: 104,803,499 (GRCm39) |
|
probably benign |
Het |
Cecr2 |
G |
T |
6: 120,735,159 (GRCm39) |
M21I |
probably benign |
Het |
Ckap2l |
T |
C |
2: 129,127,636 (GRCm39) |
T181A |
probably benign |
Het |
Col4a3 |
T |
C |
1: 82,629,879 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,252,576 (GRCm39) |
C1933S |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,972,074 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,611,706 (GRCm39) |
L516P |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,286,419 (GRCm39) |
T1035A |
probably benign |
Het |
Fzd8 |
A |
G |
18: 9,212,947 (GRCm39) |
T10A |
unknown |
Het |
Gm9631 |
C |
A |
11: 121,833,328 (GRCm39) |
C636F |
probably damaging |
Het |
Gp1ba |
A |
G |
11: 70,531,614 (GRCm39) |
|
probably benign |
Het |
Gsk3a |
A |
G |
7: 24,931,134 (GRCm39) |
V277A |
probably damaging |
Het |
H2-M1 |
T |
A |
17: 36,981,120 (GRCm39) |
|
probably benign |
Het |
Hesx1 |
T |
A |
14: 26,722,809 (GRCm39) |
W45R |
probably damaging |
Het |
Il23r |
T |
A |
6: 67,463,317 (GRCm39) |
M59L |
possibly damaging |
Het |
Insc |
T |
A |
7: 114,444,312 (GRCm39) |
V433E |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,196,053 (GRCm39) |
|
probably benign |
Het |
Kif13a |
T |
A |
13: 46,966,299 (GRCm39) |
E436V |
probably damaging |
Het |
Liph |
A |
G |
16: 21,814,100 (GRCm39) |
F7S |
probably benign |
Het |
Lpar2 |
T |
C |
8: 70,276,823 (GRCm39) |
V204A |
probably damaging |
Het |
Lrfn4 |
T |
A |
19: 4,662,668 (GRCm39) |
|
probably null |
Het |
Man2b2 |
A |
T |
5: 36,983,402 (GRCm39) |
D182E |
probably benign |
Het |
Mmp27 |
T |
C |
9: 7,581,156 (GRCm39) |
|
probably benign |
Het |
Mrm1 |
A |
G |
11: 84,705,639 (GRCm39) |
|
probably benign |
Het |
Mtx3 |
T |
C |
13: 92,986,869 (GRCm39) |
S271P |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
Necab2 |
A |
G |
8: 120,197,670 (GRCm39) |
D332G |
probably damaging |
Het |
Ngfr |
A |
G |
11: 95,465,065 (GRCm39) |
I261T |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,345,757 (GRCm39) |
E617G |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,941,306 (GRCm39) |
T4505K |
probably benign |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,003,807 (GRCm39) |
Y148H |
probably damaging |
Het |
Osbpl11 |
T |
A |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
Otof |
A |
G |
5: 30,552,041 (GRCm39) |
V301A |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,850,919 (GRCm39) |
L1145Q |
probably damaging |
Het |
Phospho2 |
T |
A |
2: 69,626,540 (GRCm39) |
I232N |
possibly damaging |
Het |
Pomgnt2 |
T |
A |
9: 121,811,127 (GRCm39) |
K551N |
probably damaging |
Het |
Ptchd3 |
A |
G |
11: 121,721,984 (GRCm39) |
T286A |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,331,976 (GRCm39) |
D2396G |
probably damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,373,341 (GRCm39) |
E836G |
possibly damaging |
Het |
Simc1 |
G |
T |
13: 54,673,468 (GRCm39) |
M605I |
possibly damaging |
Het |
Slc12a3 |
G |
A |
8: 95,056,061 (GRCm39) |
E66K |
possibly damaging |
Het |
Spg11 |
T |
C |
2: 121,915,464 (GRCm39) |
N1060S |
probably benign |
Het |
Supt5 |
A |
T |
7: 28,028,462 (GRCm39) |
W178R |
probably damaging |
Het |
Tmem41a |
G |
T |
16: 21,756,740 (GRCm39) |
F126L |
probably benign |
Het |
Ube2m |
T |
A |
7: 12,771,553 (GRCm39) |
Q35L |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,086,211 (GRCm39) |
D658G |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,238,373 (GRCm39) |
C456S |
probably benign |
Het |
Vmn2r81 |
T |
A |
10: 79,104,434 (GRCm39) |
D352E |
probably damaging |
Het |
Zfp516 |
A |
G |
18: 83,005,388 (GRCm39) |
Y764C |
probably damaging |
Het |
Zswim7 |
A |
G |
11: 62,167,473 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAAAACATCCAGCTCCCAGAGTG -3'
(R):5'- AAGCTCTCTCCCTCTCAAGACAGG -3'
Sequencing Primer
(F):5'- ACAGGAACATGGGACTGTCTTTG -3'
(R):5'- CCTCCTTTAGACTTAGGAGACAG -3'
|
Posted On |
2013-07-30 |