Incidental Mutation 'R5314:Atp8a1'
| ID |
405735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8a1
|
| Ensembl Gene |
ENSMUSG00000037685 |
| Gene Name |
ATPase phospholipid transporting 8A1 |
| Synonyms |
Atp3a2, B230107D19Rik |
| MMRRC Submission |
042897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 67863248 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
T |
C |
3: 121,473,172 (GRCm39) |
F109S |
unknown |
Het |
| Ankhd1 |
A |
T |
18: 36,694,111 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
G |
T |
6: 29,417,497 (GRCm39) |
V707F |
probably benign |
Het |
| Ccdc157 |
A |
T |
11: 4,100,078 (GRCm39) |
C91* |
probably null |
Het |
| Ceacam3 |
T |
A |
7: 16,892,296 (GRCm39) |
N346K |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,626 (GRCm39) |
D1196G |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,077,551 (GRCm39) |
E74G |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,192,892 (GRCm39) |
M665V |
probably benign |
Het |
| Crtc2 |
C |
T |
3: 90,168,348 (GRCm39) |
Q364* |
probably null |
Het |
| Csf1r |
T |
A |
18: 61,262,796 (GRCm39) |
I857N |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,558,460 (GRCm39) |
G168D |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,443,182 (GRCm39) |
T315A |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,333,493 (GRCm39) |
V153A |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,211,682 (GRCm39) |
I193T |
possibly damaging |
Het |
| Epc1 |
A |
G |
18: 6,462,969 (GRCm39) |
I9T |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,522,246 (GRCm39) |
I208F |
possibly damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,364 (GRCm39) |
V243A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,869,534 (GRCm39) |
V4297A |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,677,960 (GRCm39) |
P106S |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,352,486 (GRCm39) |
T218A |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,946,220 (GRCm39) |
S1677P |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,526 (GRCm39) |
M293K |
probably damaging |
Het |
| Meis3 |
T |
A |
7: 15,917,989 (GRCm39) |
V307E |
probably damaging |
Het |
| Nadk2 |
A |
C |
15: 9,108,401 (GRCm39) |
I417L |
probably benign |
Het |
| Nav2 |
AAGCAGCAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCAGCAGCA |
7: 49,058,440 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,515 (GRCm39) |
N1659K |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,630 (GRCm39) |
V274A |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,785 (GRCm39) |
S233P |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pde3b |
A |
T |
7: 114,093,772 (GRCm39) |
N339Y |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,223,361 (GRCm39) |
F298L |
possibly damaging |
Het |
| Phtf1 |
G |
A |
3: 103,906,603 (GRCm39) |
R606H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,290,528 (GRCm39) |
D535G |
possibly damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,905,121 (GRCm39) |
V130A |
probably damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,474 (GRCm39) |
F57L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,401 (GRCm39) |
V1334A |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,870,686 (GRCm39) |
E433G |
probably damaging |
Het |
| Sema6b |
G |
A |
17: 56,435,413 (GRCm39) |
R277* |
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,805,015 (GRCm39) |
S349T |
probably benign |
Het |
| Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,368,067 (GRCm39) |
|
probably null |
Het |
| Smc1b |
T |
A |
15: 84,955,066 (GRCm39) |
Y1062F |
probably benign |
Het |
| Snrnp70 |
G |
A |
7: 45,026,476 (GRCm39) |
R298* |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,246 (GRCm39) |
C189S |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,382,672 (GRCm39) |
D103E |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,568,087 (GRCm39) |
I236V |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,208,407 (GRCm39) |
V316A |
probably damaging |
Het |
| Treml2 |
T |
A |
17: 48,607,601 (GRCm39) |
L16Q |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,335,337 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,013,178 (GRCm39) |
Y567H |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,087 (GRCm39) |
R441* |
probably null |
Het |
| Zfp930 |
A |
G |
8: 69,679,373 (GRCm39) |
I59M |
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 |
|
|
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 |
|
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'- CACAGAGACTGGCATTGTGG -3'
(R):5'- ACCCAGTAAAGTTAGTTTCCCC -3'
Sequencing Primer
(F):5'- GCCCCGCCTATTGAATCTG -3'
(R):5'- CAGTAAAGTTAGTTTCCCCCTTTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation