Incidental Mutation 'R6946:Atp8a1'
ID |
540881 |
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 # |
R6946 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67779968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1142
(T1142A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000142843]
[ENSMUST00000200955]
|
AlphaFold |
P70704 |
Predicted Effect |
unknown
Transcript: ENSMUST00000037380
AA Change: T1157A
|
SMART Domains |
Protein: ENSMUSP00000042215 Gene: ENSMUSG00000037685 AA Change: T1157A
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: T1157A
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685 AA Change: T1157A
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 |
possibly damaging
Transcript: ENSMUST00000135930
AA Change: T1142A
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685 AA Change: T1142A
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: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
Validation Efficiency |
100% (42/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
Atxn1l |
G |
T |
8: 110,458,648 (GRCm39) |
P538H |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
Dap3 |
T |
A |
3: 88,845,523 (GRCm39) |
|
probably benign |
Het |
Dgki |
C |
A |
6: 37,276,571 (GRCm39) |
G105* |
probably null |
Het |
Dnm3 |
T |
C |
1: 162,141,224 (GRCm39) |
E345G |
possibly damaging |
Het |
Fam120a |
A |
T |
13: 49,034,496 (GRCm39) |
S1039T |
possibly damaging |
Het |
Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
Igll1 |
A |
G |
16: 16,678,920 (GRCm39) |
V130A |
probably damaging |
Het |
Ikzf2 |
T |
A |
1: 69,616,955 (GRCm39) |
K137* |
probably null |
Het |
Klra9 |
T |
A |
6: 130,156,003 (GRCm39) |
I251F |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,587,451 (GRCm39) |
I166V |
probably benign |
Het |
Map3k1 |
C |
T |
13: 111,905,035 (GRCm39) |
W213* |
probably null |
Het |
Map3k12 |
A |
G |
15: 102,413,569 (GRCm39) |
M134T |
possibly damaging |
Het |
Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
Nop53 |
C |
T |
7: 15,672,283 (GRCm39) |
R462Q |
probably damaging |
Het |
Oog2 |
A |
T |
4: 143,923,034 (GRCm39) |
D433V |
possibly damaging |
Het |
Or5p76 |
T |
A |
7: 108,122,528 (GRCm39) |
I210F |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
Or8k38 |
T |
A |
2: 86,487,932 (GRCm39) |
Y290F |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,435,672 (GRCm39) |
L546Q |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,230,929 (GRCm39) |
M4L |
probably benign |
Het |
Prss21 |
T |
C |
17: 24,087,138 (GRCm39) |
S24P |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,661,545 (GRCm39) |
D1815G |
probably damaging |
Het |
Scd4 |
A |
G |
19: 44,321,953 (GRCm39) |
E8G |
probably null |
Het |
Sec31b |
T |
C |
19: 44,522,755 (GRCm39) |
D79G |
probably damaging |
Het |
Siah1a |
G |
T |
8: 87,451,770 (GRCm39) |
A238E |
probably damaging |
Het |
Spag17 |
G |
A |
3: 99,911,999 (GRCm39) |
E290K |
possibly damaging |
Het |
Srl |
T |
C |
16: 4,300,423 (GRCm39) |
I883V |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,580,199 (GRCm39) |
W23565R |
probably damaging |
Het |
Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
Zfp112 |
A |
T |
7: 23,824,766 (GRCm39) |
N245Y |
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 |
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 |
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'- ACTTTGAGGACATCCAAGGAC -3'
(R):5'- GAACGATGCATCAGCTCTGC -3'
Sequencing Primer
(F):5'- GGTATTACAGTAGTCACATAGCGC -3'
(R):5'- ATGCATCAGCTCTGCCAGGAG -3'
|
Posted On |
2018-11-28 |