Incidental Mutation 'R1764:Atp8a1'
ID |
193271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8a1
|
Ensembl Gene |
ENSMUSG00000037685 |
Gene Name |
ATPase phospholipid transporting 8A1 |
Synonyms |
Atp3a2, B230107D19Rik |
MMRRC Submission |
039796-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1764 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 67788910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 1044
(M1044I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000135930]
[ENSMUST00000200955]
|
AlphaFold |
P70704 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037380
AA Change: M1044I
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000042215 Gene: ENSMUSG00000037685 AA Change: M1044I
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: M1044I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072738 Gene: ENSMUSG00000037685 AA Change: M1044I
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: M1029I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000118379 Gene: ENSMUSG00000037685 AA Change: M1029I
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: ENSMUST00000149501
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175410
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201718
|
Meta Mutation Damage Score |
0.1047 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.2%
|
Validation Efficiency |
94% (94/100) |
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: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
G |
5: 109,884,655 (GRCm39) |
V401A |
probably benign |
Het |
Abca7 |
G |
T |
10: 79,844,784 (GRCm39) |
W1502L |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,035,468 (GRCm39) |
E124G |
probably benign |
Het |
Aif1l |
G |
A |
2: 31,855,118 (GRCm39) |
E66K |
probably benign |
Het |
Aldh8a1 |
A |
T |
10: 21,271,392 (GRCm39) |
M373L |
probably benign |
Het |
Alg6 |
T |
C |
4: 99,629,815 (GRCm39) |
Y131H |
probably benign |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Arrdc4 |
A |
T |
7: 68,391,622 (GRCm39) |
I215K |
probably damaging |
Het |
Asb4 |
A |
G |
6: 5,390,798 (GRCm39) |
|
probably null |
Het |
Astn1 |
T |
C |
1: 158,331,821 (GRCm39) |
I305T |
probably benign |
Het |
Atp5f1b |
T |
A |
10: 127,919,949 (GRCm39) |
|
probably benign |
Het |
Atp9b |
C |
T |
18: 80,952,806 (GRCm39) |
|
probably null |
Het |
Brd10 |
T |
A |
19: 29,696,560 (GRCm39) |
T978S |
possibly damaging |
Het |
Btaf1 |
A |
G |
19: 36,928,518 (GRCm39) |
H113R |
probably benign |
Het |
C87436 |
G |
T |
6: 86,430,594 (GRCm39) |
C338F |
possibly damaging |
Het |
Casz1 |
T |
C |
4: 149,027,357 (GRCm39) |
|
probably benign |
Het |
Cbr3 |
T |
A |
16: 93,487,370 (GRCm39) |
H184Q |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,722,097 (GRCm39) |
S271P |
possibly damaging |
Het |
Cdc34 |
A |
G |
10: 79,521,174 (GRCm39) |
K77R |
probably benign |
Het |
Cdc34 |
G |
T |
10: 79,521,172 (GRCm39) |
|
probably null |
Het |
Cdh20 |
A |
G |
1: 104,862,070 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,706,157 (GRCm39) |
E880G |
probably damaging |
Het |
Cers1 |
T |
G |
8: 70,774,141 (GRCm39) |
|
probably null |
Het |
Cntn5 |
T |
C |
9: 9,673,988 (GRCm39) |
I705V |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,721,247 (GRCm39) |
D636E |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,154,560 (GRCm39) |
E240G |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,314,369 (GRCm39) |
Y4100C |
probably damaging |
Het |
Dpysl3 |
T |
C |
18: 43,496,583 (GRCm39) |
E151G |
probably damaging |
Het |
Efcab9 |
T |
G |
11: 32,474,457 (GRCm39) |
T9P |
possibly damaging |
Het |
Eif4g2 |
A |
T |
7: 110,673,694 (GRCm39) |
F725Y |
probably damaging |
Het |
Epha6 |
T |
A |
16: 59,596,091 (GRCm39) |
I867F |
probably null |
Het |
Erbin |
T |
C |
13: 103,979,959 (GRCm39) |
|
probably benign |
Het |
Evi5l |
A |
G |
8: 4,253,560 (GRCm39) |
E468G |
probably damaging |
Het |
Filip1l |
C |
T |
16: 57,390,401 (GRCm39) |
R330W |
probably damaging |
Het |
Fmo3 |
C |
T |
1: 162,786,142 (GRCm39) |
V283M |
possibly damaging |
Het |
Gabarapl1 |
A |
T |
6: 129,510,481 (GRCm39) |
K24N |
possibly damaging |
Het |
Gigyf1 |
C |
T |
5: 137,520,770 (GRCm39) |
|
probably benign |
Het |
Gm5581 |
T |
A |
6: 131,158,362 (GRCm39) |
|
noncoding transcript |
Het |
Gon4l |
G |
T |
3: 88,799,906 (GRCm39) |
K850N |
probably damaging |
Het |
Igf2bp3 |
C |
T |
6: 49,085,980 (GRCm39) |
R233H |
probably damaging |
Het |
Iqcf4 |
G |
A |
9: 106,445,893 (GRCm39) |
R85C |
probably benign |
Het |
Kalrn |
C |
T |
16: 34,033,243 (GRCm39) |
R473Q |
probably damaging |
Het |
Lmod2 |
T |
A |
6: 24,603,376 (GRCm39) |
V117E |
probably damaging |
Het |
Mapk11 |
A |
G |
15: 89,028,594 (GRCm39) |
|
probably null |
Het |
Mcm3 |
G |
A |
1: 20,876,103 (GRCm39) |
R664C |
probably damaging |
Het |
Mex3d |
A |
G |
10: 80,222,770 (GRCm39) |
M162T |
probably benign |
Het |
Mrgprb3 |
A |
G |
7: 48,292,771 (GRCm39) |
I260T |
probably benign |
Het |
Ncor2 |
G |
T |
5: 125,105,679 (GRCm39) |
A1637D |
possibly damaging |
Het |
Nedd4 |
T |
A |
9: 72,638,189 (GRCm39) |
D441E |
probably damaging |
Het |
Nek5 |
A |
T |
8: 22,599,928 (GRCm39) |
C194S |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,146,447 (GRCm39) |
D369G |
possibly damaging |
Het |
Ntrk1 |
G |
T |
3: 87,687,391 (GRCm39) |
T681K |
probably damaging |
Het |
Or13a24 |
T |
C |
7: 140,154,383 (GRCm39) |
W106R |
probably damaging |
Het |
Or4f14 |
A |
G |
2: 111,742,526 (GRCm39) |
F250L |
possibly damaging |
Het |
Otogl |
C |
T |
10: 107,735,322 (GRCm39) |
W154* |
probably null |
Het |
Pcdh20 |
T |
C |
14: 88,706,620 (GRCm39) |
T227A |
possibly damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,620,324 (GRCm39) |
S705P |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,257,713 (GRCm39) |
H335R |
possibly damaging |
Het |
Pkn2 |
T |
C |
3: 142,499,615 (GRCm39) |
Q954R |
probably damaging |
Het |
Pramel23 |
C |
A |
4: 143,424,840 (GRCm39) |
C201F |
probably benign |
Het |
Prkcq |
G |
A |
2: 11,237,442 (GRCm39) |
V74M |
probably damaging |
Het |
Prkrip1 |
A |
T |
5: 136,218,489 (GRCm39) |
|
probably null |
Het |
Pttg1ip2 |
A |
T |
5: 5,528,943 (GRCm39) |
I24N |
possibly damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,284,904 (GRCm39) |
|
probably benign |
Het |
Rbm5 |
A |
T |
9: 107,644,763 (GRCm39) |
Y11* |
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,690,805 (GRCm39) |
V1082L |
probably damaging |
Het |
Scart2 |
A |
G |
7: 139,877,178 (GRCm39) |
E831G |
probably benign |
Het |
Sel1l3 |
C |
A |
5: 53,327,789 (GRCm39) |
E497* |
probably null |
Het |
Serpina6 |
A |
T |
12: 103,620,182 (GRCm39) |
I189N |
probably damaging |
Het |
Serpinb11 |
A |
T |
1: 107,304,532 (GRCm39) |
T166S |
probably benign |
Het |
Skint7 |
T |
C |
4: 111,839,270 (GRCm39) |
L188S |
probably benign |
Het |
Slc25a45 |
C |
T |
19: 5,934,958 (GRCm39) |
A269V |
probably damaging |
Het |
Sltm |
A |
G |
9: 70,469,082 (GRCm39) |
T114A |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Spen |
C |
A |
4: 141,200,261 (GRCm39) |
V2766L |
probably damaging |
Het |
Srgap2 |
T |
A |
1: 131,247,275 (GRCm39) |
I445F |
possibly damaging |
Het |
Stox2 |
A |
T |
8: 47,647,051 (GRCm39) |
Y200* |
probably null |
Het |
Strada |
C |
A |
11: 106,055,010 (GRCm39) |
R384L |
probably damaging |
Het |
Tctn2 |
G |
A |
5: 124,757,094 (GRCm39) |
|
noncoding transcript |
Het |
Tgfbr3l |
G |
T |
8: 4,299,282 (GRCm39) |
R461L |
probably benign |
Het |
Tmem65 |
A |
G |
15: 58,661,998 (GRCm39) |
|
probably benign |
Het |
Tpst1 |
G |
T |
5: 130,143,343 (GRCm39) |
V294F |
possibly damaging |
Het |
Trim23 |
A |
G |
13: 104,335,126 (GRCm39) |
Y384C |
probably damaging |
Het |
Ube3b |
C |
G |
5: 114,542,678 (GRCm39) |
L512V |
possibly damaging |
Het |
Ubxn4 |
T |
A |
1: 128,183,916 (GRCm39) |
V92E |
probably damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,050,067 (GRCm39) |
C561S |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,145,635 (GRCm39) |
D104G |
probably damaging |
Het |
Wdr25 |
T |
A |
12: 108,992,364 (GRCm39) |
L73* |
probably null |
Het |
Wnt9a |
G |
A |
11: 59,221,728 (GRCm39) |
A209T |
probably benign |
Het |
Zcchc17 |
A |
C |
4: 130,223,388 (GRCm39) |
C133G |
probably damaging |
Het |
Zdhhc18 |
T |
A |
4: 133,335,987 (GRCm39) |
M375L |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,678,276 (GRCm39) |
F3109L |
probably benign |
Het |
Zfp202 |
T |
A |
9: 40,121,762 (GRCm39) |
D286E |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,784,158 (GRCm39) |
L2021P |
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 |
|
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 |
|
|
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'- GCACAGTTTACATGTTTGGGAACCAC -3'
(R):5'- TCCATCAGCTACCTGAGAGGGAAAAG -3'
Sequencing Primer
(F):5'- TGTTTGGGAACCACAGGGC -3'
(R):5'- GGAAAAGGCGCATAAAGGC -3'
|
Posted On |
2014-05-23 |