Incidental Mutation 'R7530:Atp8a1'
| ID |
583255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8a1
|
| Ensembl Gene |
ENSMUSG00000037685 |
| Gene Name |
ATPase phospholipid transporting 8A1 |
| Synonyms |
Atp3a2, B230107D19Rik |
| MMRRC Submission |
045602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 67902971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 535
(L535R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000200955]
|
| AlphaFold |
P70704 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: L535R
| 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: L535R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: L535R
| 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: L520R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: L520R
| 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: 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,423,724 (GRCm39) |
T230A |
probably benign |
Het |
| Atp5mc2 |
A |
T |
15: 102,576,183 (GRCm39) |
M1K |
probably null |
Het |
| Bsn |
A |
G |
9: 107,989,155 (GRCm39) |
I2199T |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,824,915 (GRCm39) |
T155A |
|
Het |
| Cdc42bpg |
T |
G |
19: 6,372,305 (GRCm39) |
F1430L |
probably benign |
Het |
| Cdc42bpg |
G |
T |
19: 6,372,306 (GRCm39) |
V1431L |
probably benign |
Het |
| Chat |
A |
T |
14: 32,130,915 (GRCm39) |
Y575* |
probably null |
Het |
| Cimip4 |
T |
C |
15: 78,270,516 (GRCm39) |
D84G |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,945,589 (GRCm39) |
C842S |
probably damaging |
Het |
| Coq2 |
T |
C |
5: 100,822,008 (GRCm39) |
S34G |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,875,069 (GRCm39) |
A680T |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,310,931 (GRCm39) |
K38N |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,313 (GRCm39) |
F33S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,815,317 (GRCm39) |
M1322T |
probably damaging |
Het |
| Ext2 |
T |
A |
2: 93,491,998 (GRCm39) |
H564L |
probably benign |
Het |
| Fbxl2 |
G |
T |
9: 113,818,241 (GRCm39) |
H202N |
probably benign |
Het |
| Fra10ac1 |
A |
T |
19: 38,204,353 (GRCm39) |
Y74* |
probably null |
Het |
| Greb1 |
T |
A |
12: 16,767,207 (GRCm39) |
I332F |
probably benign |
Het |
| Ifnar2 |
A |
G |
16: 91,201,201 (GRCm39) |
S481G |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,381 (GRCm39) |
P62S |
possibly damaging |
Het |
| Iqub |
T |
C |
6: 24,450,622 (GRCm39) |
Q659R |
probably benign |
Het |
| Kansl2 |
T |
C |
15: 98,426,896 (GRCm39) |
T242A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,536,045 (GRCm39) |
G543D |
probably benign |
Het |
| Lsg1 |
A |
G |
16: 30,401,419 (GRCm39) |
S93P |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,781,851 (GRCm39) |
C1052S |
probably benign |
Het |
| Mgam |
G |
T |
6: 40,686,152 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
C |
T |
11: 87,502,702 (GRCm39) |
R919W |
probably damaging |
Het |
| Muc5ac |
G |
T |
7: 141,367,536 (GRCm39) |
V2986L |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,864,802 (GRCm39) |
E1340G |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,995,078 (GRCm39) |
D40G |
possibly damaging |
Het |
| Nudt5 |
T |
C |
2: 5,869,179 (GRCm39) |
L135S |
probably damaging |
Het |
| Oca2 |
A |
C |
7: 55,981,720 (GRCm39) |
D614A |
probably damaging |
Het |
| Or1e16 |
A |
G |
11: 73,279,189 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or6c201 |
A |
C |
10: 128,969,849 (GRCm39) |
|
probably null |
Het |
| Or8k24 |
T |
A |
2: 86,216,515 (GRCm39) |
L82F |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,069,844 (GRCm39) |
A991S |
unknown |
Het |
| Plekhg2 |
G |
A |
7: 28,061,353 (GRCm39) |
R817C |
probably damaging |
Het |
| Plrg1 |
T |
A |
3: 82,965,989 (GRCm39) |
L48H |
probably damaging |
Het |
| Prx |
A |
G |
7: 27,207,397 (GRCm39) |
E18G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,069,945 (GRCm39) |
Y1479C |
probably damaging |
Het |
| Rap1b |
A |
T |
10: 117,653,357 (GRCm39) |
Y159* |
probably null |
Het |
| Rbck1 |
T |
C |
2: 152,166,212 (GRCm39) |
E242G |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,557,768 (GRCm39) |
D570G |
probably benign |
Het |
| Slc35f5 |
G |
T |
1: 125,512,275 (GRCm39) |
L358F |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,156,587 (GRCm39) |
W274R |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,926,121 (GRCm39) |
Y43* |
probably null |
Het |
| Ssu72 |
A |
G |
4: 155,815,786 (GRCm39) |
T77A |
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,436,829 (GRCm39) |
T297I |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,558,522 (GRCm39) |
I1743N |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,588,868 (GRCm39) |
R2434C |
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 |
|
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 |
|
|
|
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'- GGAACATCTTATCTCGCCTAAACAC -3'
(R):5'- GTAGTCCGTAGTCCAGCTTCTG -3'
Sequencing Primer
(F):5'- TCTCGCCTAAACACACAAATAAAAG -3'
(R):5'- CAGCTTCTGTGATACTTGGAATTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation