Incidental Mutation 'R9245:Atp8a1'
| ID |
701206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8a1
|
| Ensembl Gene |
ENSMUSG00000037685 |
| Gene Name |
ATPase phospholipid transporting 8A1 |
| Synonyms |
Atp3a2, B230107D19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67779977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1154
(Y1154H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000142843]
[ENSMUST00000200955]
|
| AlphaFold |
P70704 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000037380
AA Change: Y1154H
|
| SMART Domains |
Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: Y1154H
| 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 damaging
Transcript: ENSMUST00000072971
AA Change: Y1154H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: Y1154H
| 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 damaging
Transcript: ENSMUST00000135930
AA Change: Y1139H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: Y1139H
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd15 |
C |
A |
11: 77,406,312 (GRCm39) |
H96Q |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,788,653 (GRCm39) |
Q411R |
|
Het |
| Ankrd34c |
A |
T |
9: 89,610,940 (GRCm39) |
V467E |
probably damaging |
Het |
| Apobr |
A |
T |
7: 126,186,507 (GRCm39) |
R673* |
probably null |
Het |
| Arhgap18 |
T |
C |
10: 26,722,107 (GRCm39) |
V98A |
possibly damaging |
Het |
| Arhgap30 |
G |
T |
1: 171,235,957 (GRCm39) |
W777L |
possibly damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,514,770 (GRCm39) |
F299S |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,957,812 (GRCm39) |
T1055I |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,743,331 (GRCm39) |
M1547V |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,993,292 (GRCm39) |
D820G |
probably damaging |
Het |
| Castor1 |
T |
A |
11: 4,170,485 (GRCm39) |
N160K |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,812,578 (GRCm39) |
Y59H |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,651,871 (GRCm39) |
C532S |
probably damaging |
Het |
| Csmd2 |
A |
C |
4: 128,200,168 (GRCm39) |
D451A |
|
Het |
| Cyp2d22 |
A |
T |
15: 82,256,748 (GRCm39) |
I342K |
probably damaging |
Het |
| Des |
A |
T |
1: 75,343,406 (GRCm39) |
T430S |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 118,016,503 (GRCm39) |
V283I |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,786,731 (GRCm39) |
G3634E |
probably benign |
Het |
| Dst |
A |
G |
1: 34,228,943 (GRCm39) |
S2179G |
probably benign |
Het |
| Elp1 |
C |
A |
4: 56,771,003 (GRCm39) |
R980L |
probably benign |
Het |
| Esrp2 |
T |
A |
8: 106,858,775 (GRCm39) |
T621S |
possibly damaging |
Het |
| Ext2 |
C |
T |
2: 93,534,836 (GRCm39) |
V643I |
probably benign |
Het |
| Fastk |
G |
A |
5: 24,649,172 (GRCm39) |
P72S |
probably benign |
Het |
| Fbxo28 |
A |
G |
1: 182,145,566 (GRCm39) |
I174T |
possibly damaging |
Het |
| Fstl3 |
C |
T |
10: 79,614,411 (GRCm39) |
L38F |
probably damaging |
Het |
| Golgb1 |
C |
T |
16: 36,739,181 (GRCm39) |
Q2548* |
probably null |
Het |
| Gstm3 |
T |
C |
3: 107,874,956 (GRCm39) |
T99A |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,369 (GRCm39) |
D26G |
unknown |
Het |
| Hadh |
T |
C |
3: 131,034,636 (GRCm39) |
N220S |
probably damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,497,240 (GRCm39) |
T51A |
probably benign |
Het |
| Immt |
G |
T |
6: 71,823,350 (GRCm39) |
W67L |
probably benign |
Het |
| Ints8 |
T |
A |
4: 11,213,811 (GRCm39) |
|
probably null |
Het |
| Ipo7 |
T |
C |
7: 109,643,826 (GRCm39) |
V407A |
probably damaging |
Het |
| Kics2 |
A |
T |
10: 121,586,273 (GRCm39) |
H196L |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,915,725 (GRCm39) |
S501P |
probably benign |
Het |
| Krt39 |
T |
G |
11: 99,407,450 (GRCm39) |
Q348P |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,488,456 (GRCm39) |
N4543I |
|
Het |
| Macrod2 |
T |
C |
2: 141,652,534 (GRCm39) |
V199A |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,167,701 (GRCm39) |
V1052A |
probably damaging |
Het |
| Mfap4 |
T |
C |
11: 61,378,007 (GRCm39) |
F149S |
probably damaging |
Het |
| Moap1 |
A |
G |
12: 102,708,526 (GRCm39) |
V341A |
unknown |
Het |
| Mprip |
G |
T |
11: 59,628,403 (GRCm39) |
E283D |
possibly damaging |
Het |
| Mrgpra2a |
A |
G |
7: 47,077,004 (GRCm39) |
F85L |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,252,753 (GRCm39) |
|
probably null |
Het |
| Ndc80 |
A |
T |
17: 71,807,294 (GRCm39) |
M554K |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,194 (GRCm39) |
I129F |
probably damaging |
Het |
| Or5k1b |
T |
A |
16: 58,581,126 (GRCm39) |
K138* |
probably null |
Het |
| Or6c38 |
T |
A |
10: 128,929,472 (GRCm39) |
I124F |
probably damaging |
Het |
| Pck1 |
C |
T |
2: 172,996,569 (GRCm39) |
T161I |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,726,959 (GRCm39) |
M1939K |
unknown |
Het |
| Pcm1 |
T |
A |
8: 41,732,877 (GRCm39) |
N711K |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,143,894 (GRCm39) |
V393A |
probably benign |
Het |
| Pla2g15 |
G |
T |
8: 106,889,539 (GRCm39) |
A229S |
possibly damaging |
Het |
| Plekhg1 |
G |
A |
10: 3,907,141 (GRCm39) |
R741Q |
|
Het |
| Plod1 |
A |
G |
4: 148,010,626 (GRCm39) |
L275P |
possibly damaging |
Het |
| Plvap |
G |
T |
8: 71,964,323 (GRCm39) |
T13K |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,314,320 (GRCm39) |
I707N |
probably damaging |
Het |
| Pnma8b |
A |
G |
7: 16,680,843 (GRCm39) |
E609G |
probably benign |
Het |
| Ptger4 |
C |
T |
15: 5,273,193 (GRCm39) |
|
probably benign |
Het |
| Qars1 |
G |
T |
9: 108,386,132 (GRCm39) |
E108* |
probably null |
Het |
| Rfpl4 |
C |
A |
7: 5,113,840 (GRCm39) |
D114Y |
probably damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,411 (GRCm39) |
T207A |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,552,261 (GRCm39) |
I680T |
probably benign |
Het |
| Skint2 |
A |
T |
4: 112,502,616 (GRCm39) |
K275N |
probably benign |
Het |
| Slc29a3 |
A |
G |
10: 60,559,755 (GRCm39) |
V133A |
possibly damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,805,460 (GRCm39) |
K680E |
probably benign |
Het |
| Smc1b |
A |
T |
15: 85,004,846 (GRCm39) |
F409L |
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,695,239 (GRCm39) |
M166K |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,123,554 (GRCm39) |
D3152G |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,723 (GRCm39) |
I12V |
probably benign |
Het |
| Tead3 |
C |
A |
17: 28,551,709 (GRCm39) |
K461N |
probably benign |
Het |
| Tex12 |
C |
A |
9: 50,468,772 (GRCm39) |
A83S |
probably damaging |
Het |
| Top6bl |
T |
G |
19: 4,746,068 (GRCm39) |
K199Q |
possibly damaging |
Het |
| Ttc28 |
A |
G |
5: 111,325,525 (GRCm39) |
T319A |
unknown |
Het |
| Ttn |
T |
C |
2: 76,728,593 (GRCm39) |
I5496V |
unknown |
Het |
| Tubb4a |
T |
A |
17: 57,387,959 (GRCm39) |
I356F |
possibly damaging |
Het |
| Txk |
A |
T |
5: 72,891,610 (GRCm39) |
W119R |
probably damaging |
Het |
| Txnl4a |
A |
T |
18: 80,261,937 (GRCm39) |
I58F |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,318,418 (GRCm39) |
Y44N |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,878,009 (GRCm39) |
T1093A |
probably benign |
Het |
| Vmn1r194 |
T |
C |
13: 22,428,731 (GRCm39) |
I116T |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,368,176 (GRCm39) |
M272T |
possibly damaging |
Het |
| Vmn2r85 |
C |
A |
10: 130,255,033 (GRCm39) |
M550I |
possibly damaging |
Het |
| Vmn2r85 |
C |
A |
10: 130,261,534 (GRCm39) |
V268F |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,890 (GRCm39) |
V529E |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,124,821 (GRCm39) |
Y550* |
probably null |
Het |
| Zik1 |
G |
A |
7: 10,224,156 (GRCm39) |
L314F |
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 |
|
|
|
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 |
|
|
|
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'- GGACATCCAAGGACAATGGTATTAC -3'
(R):5'- TCTGAAGGTGGGAACGATGC -3'
Sequencing Primer
(F):5'- GGTATTACAGTAGTCACATAGCGC -3'
(R):5'- TGGGAACGATGCATCAGCTCTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation