Incidental Mutation 'R5815:Atp8a1'
| ID |
448990 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5815 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67906414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 500
(I500N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000200955]
|
| AlphaFold |
P70704 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037380
AA Change: I500N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: I500N
| 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: I500N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: I500N
| 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: ENSMUST00000135930
AA Change: I485N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: I485N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
A |
G |
11: 117,726,530 (GRCm39) |
D226G |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,979,215 (GRCm39) |
|
probably null |
Het |
| Aldh1a1 |
C |
A |
19: 20,608,034 (GRCm39) |
D285E |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,599,820 (GRCm39) |
S1549P |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,442,171 (GRCm39) |
S68G |
probably benign |
Het |
| B3gnt7 |
A |
C |
1: 86,233,510 (GRCm39) |
D135A |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,381,240 (GRCm39) |
L692H |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,064,559 (GRCm39) |
V276E |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,393,970 (GRCm39) |
E2059V |
possibly damaging |
Het |
| Cpxm2 |
C |
A |
7: 131,645,839 (GRCm39) |
G693V |
probably damaging |
Het |
| Crocc |
A |
T |
4: 140,762,507 (GRCm39) |
V661E |
probably damaging |
Het |
| D1Pas1 |
A |
T |
1: 186,700,206 (GRCm39) |
N45I |
probably damaging |
Het |
| Ddx19a |
C |
T |
8: 111,705,781 (GRCm39) |
W223* |
probably null |
Het |
| Ddx60 |
C |
A |
8: 62,416,756 (GRCm39) |
S567Y |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,401,176 (GRCm39) |
N363K |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,578,783 (GRCm39) |
|
probably null |
Het |
| Gpr151 |
G |
A |
18: 42,712,450 (GRCm39) |
T76M |
probably benign |
Het |
| Inhbc |
C |
T |
10: 127,193,318 (GRCm39) |
V233I |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,839 (GRCm39) |
L233F |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,862,847 (GRCm39) |
V2972A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,612 (GRCm39) |
Q271R |
probably benign |
Het |
| Mia2 |
A |
T |
12: 59,220,892 (GRCm39) |
K1083N |
possibly damaging |
Het |
| Mphosph9 |
A |
C |
5: 124,453,481 (GRCm39) |
L277R |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,099,341 (GRCm39) |
F1694I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,973,015 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2w6 |
T |
C |
13: 21,842,707 (GRCm39) |
Y262C |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,347,156 (GRCm39) |
T984A |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,708,312 (GRCm39) |
S39G |
probably benign |
Het |
| Pdia3 |
T |
A |
2: 121,266,892 (GRCm39) |
Y467* |
probably null |
Het |
| Ptpn13 |
C |
A |
5: 103,745,556 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,152,431 (GRCm39) |
M2345T |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,602,603 (GRCm39) |
I20N |
probably benign |
Het |
| Satb1 |
A |
G |
17: 52,089,981 (GRCm39) |
S289P |
possibly damaging |
Het |
| Scd4 |
A |
T |
19: 44,326,003 (GRCm39) |
H119L |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,256,574 (GRCm39) |
T27A |
probably benign |
Het |
| Slc39a14 |
A |
T |
14: 70,544,194 (GRCm39) |
I464N |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,686,092 (GRCm39) |
V220E |
probably benign |
Het |
| Themis3 |
C |
T |
17: 66,862,699 (GRCm39) |
V420I |
possibly damaging |
Het |
| Tmf1 |
T |
A |
6: 97,150,364 (GRCm39) |
T448S |
probably benign |
Het |
| Tspan33 |
G |
A |
6: 29,710,688 (GRCm39) |
R87Q |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,326,464 (GRCm39) |
M250L |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,050 (GRCm39) |
V245D |
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 |
|
|
|
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 |
|
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'- TGTCGATGTGTAAAGCCCAC -3'
(R):5'- TAAATGGCCACGAAGCAACG -3'
Sequencing Primer
(F):5'- CGATGTGTAAAGCCCACTATGTAAG -3'
(R):5'- CGAAGCAACGTTTCTGCCGTTAG -3'
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| Posted On |
2016-12-20 |
Incidental Mutation