Incidental Mutation 'R0208:Atp8a1'
ID |
33463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase phospholipid transporting 8A1 |
Synonyms |
Atp3a2, B230107D19Rik |
MMRRC Submission |
038461-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0208 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
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 67932064 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 |
noncoding transcript
Transcript: ENSMUST00000130652
|
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 |
|
Meta Mutation Damage Score |
0.9583 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
Validation Efficiency |
96% (67/70) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
C |
T |
3: 59,840,110 (GRCm39) |
R61C |
probably damaging |
Het |
Ackr4 |
A |
G |
9: 103,976,860 (GRCm39) |
V29A |
probably benign |
Het |
Adgrb1 |
T |
C |
15: 74,458,656 (GRCm39) |
F313L |
probably benign |
Het |
Arfgef2 |
C |
T |
2: 166,709,342 (GRCm39) |
R1140W |
probably damaging |
Het |
Arhgef15 |
A |
T |
11: 68,837,199 (GRCm39) |
N797K |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
Asb2 |
T |
A |
12: 103,291,530 (GRCm39) |
N466Y |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,497,492 (GRCm39) |
S2140P |
probably damaging |
Het |
Camsap2 |
G |
C |
1: 136,208,738 (GRCm39) |
P918R |
probably damaging |
Het |
Cdk7 |
G |
T |
13: 100,843,022 (GRCm39) |
D202E |
probably benign |
Het |
Cenpj |
G |
T |
14: 56,801,427 (GRCm39) |
A182E |
probably benign |
Het |
Clstn3 |
A |
G |
6: 124,409,128 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
C |
T |
4: 120,909,485 (GRCm39) |
|
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,116,385 (GRCm39) |
M1745T |
probably damaging |
Het |
Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
Dock3 |
G |
T |
9: 106,874,195 (GRCm39) |
Y425* |
probably null |
Het |
Eng |
A |
T |
2: 32,569,005 (GRCm39) |
T511S |
probably benign |
Het |
Gcfc2 |
A |
T |
6: 81,920,444 (GRCm39) |
S410C |
probably null |
Het |
Grik3 |
T |
A |
4: 125,579,958 (GRCm39) |
Y568N |
probably damaging |
Het |
Gsr |
T |
A |
8: 34,179,383 (GRCm39) |
D330E |
possibly damaging |
Het |
H2-M10.4 |
A |
G |
17: 36,771,375 (GRCm39) |
W268R |
probably damaging |
Het |
Hepacam2 |
A |
T |
6: 3,467,505 (GRCm39) |
|
probably benign |
Het |
Hrct1 |
C |
A |
4: 43,727,384 (GRCm39) |
T8K |
possibly damaging |
Het |
Idua |
T |
A |
5: 108,829,618 (GRCm39) |
F447I |
probably damaging |
Het |
Il2ra |
T |
C |
2: 11,686,828 (GRCm39) |
|
probably benign |
Het |
Ipcef1 |
A |
G |
10: 6,870,062 (GRCm39) |
S113P |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,628,854 (GRCm39) |
N119K |
possibly damaging |
Het |
Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,191,682 (GRCm39) |
|
probably benign |
Het |
Mtor |
C |
A |
4: 148,549,432 (GRCm39) |
H605Q |
probably benign |
Het |
Muc19 |
A |
G |
15: 91,777,218 (GRCm39) |
|
noncoding transcript |
Het |
Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
Nptxr |
A |
T |
15: 79,673,916 (GRCm39) |
C366S |
probably null |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or5p73 |
A |
G |
7: 108,064,750 (GRCm39) |
D73G |
probably damaging |
Het |
Or8h9 |
G |
T |
2: 86,789,748 (GRCm39) |
T18K |
probably damaging |
Het |
Pcdhb18 |
T |
C |
18: 37,623,240 (GRCm39) |
I190T |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,097,216 (GRCm39) |
T428A |
probably benign |
Het |
Pgbd1 |
A |
C |
13: 21,618,651 (GRCm39) |
L2R |
probably damaging |
Het |
Pkp4 |
A |
G |
2: 59,096,780 (GRCm39) |
I61V |
probably damaging |
Het |
Pold4 |
T |
G |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
Polr1d |
A |
C |
5: 147,015,490 (GRCm39) |
|
probably null |
Het |
Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
Psmd1 |
T |
C |
1: 86,061,463 (GRCm39) |
V891A |
possibly damaging |
Het |
Rasip1 |
C |
A |
7: 45,281,999 (GRCm39) |
P501T |
probably damaging |
Het |
Scgb2b27 |
C |
A |
7: 33,711,562 (GRCm39) |
E96* |
probably null |
Het |
Sec16b |
G |
T |
1: 157,380,505 (GRCm39) |
G359* |
probably null |
Het |
Secisbp2 |
A |
G |
13: 51,833,881 (GRCm39) |
T674A |
probably benign |
Het |
Serpinb6c |
G |
A |
13: 34,081,379 (GRCm39) |
S90L |
probably benign |
Het |
Sgsm2 |
A |
G |
11: 74,759,067 (GRCm39) |
I170T |
probably damaging |
Het |
Slc28a1 |
A |
T |
7: 80,767,454 (GRCm39) |
|
probably benign |
Het |
Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
Spg11 |
C |
T |
2: 121,886,177 (GRCm39) |
|
probably null |
Het |
Spint1 |
T |
C |
2: 119,078,826 (GRCm39) |
|
probably benign |
Het |
Spta1 |
A |
G |
1: 174,020,526 (GRCm39) |
H545R |
probably damaging |
Het |
Tada3 |
A |
T |
6: 113,343,968 (GRCm39) |
L227Q |
probably damaging |
Het |
Tln1 |
C |
T |
4: 43,549,151 (GRCm39) |
V644M |
probably damaging |
Het |
Unc79 |
G |
A |
12: 103,058,286 (GRCm39) |
V1016I |
probably benign |
Het |
Usf3 |
C |
A |
16: 44,037,269 (GRCm39) |
A583E |
probably damaging |
Het |
Ush2a |
A |
C |
1: 188,263,958 (GRCm39) |
I1612L |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
Zmat4 |
T |
A |
8: 24,392,083 (GRCm39) |
M13K |
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 |
|
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 |
|
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCGGGCATCTAGACATCAAAGGAC -3'
(R):5'- TGGGAATGTGCCAACAGGGCTTAC -3'
Sequencing Primer
(F):5'- TTCATGGCAGGAGATTCAGC -3'
(R):5'- AGGGCTTACCGGCAACATC -3'
|
Posted On |
2013-05-09 |