Incidental Mutation 'R5071:Atp8a1'
| ID |
388757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8a1
|
| Ensembl Gene |
ENSMUSG00000037685 |
| Gene Name |
ATPase phospholipid transporting 8A1 |
| Synonyms |
Atp3a2, B230107D19Rik |
| MMRRC Submission |
042661-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5071 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
67775483-68004777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67973066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 27
(K27N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037380]
[ENSMUST00000072971]
[ENSMUST00000113651]
[ENSMUST00000113652]
[ENSMUST00000135930]
[ENSMUST00000141443]
[ENSMUST00000200955]
|
| AlphaFold |
P70704 |
| Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000113651
|
| SMART Domains |
Protein: ENSMUSP00000109281
Gene: ENSMUSG00000037685
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CUB
|
46 |
87 |
4e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113652
|
| SMART Domains |
Protein: ENSMUSP00000109282
Gene: ENSMUSG00000037685
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CUB
|
46 |
87 |
9e-6 |
BLAST |
|
Pfam:E1-E2_ATPase
|
104 |
175 |
6.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130652
|
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000141443
AA Change: K27N
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121630
Gene: ENSMUSG00000037685
AA Change: K27N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
51 |
106 |
9.6e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143013
|
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.3%
|
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,659,207 (GRCm39) |
W528R |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,071,665 (GRCm39) |
E329G |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| AI182371 |
A |
T |
2: 34,975,227 (GRCm39) |
I334N |
probably benign |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,383 (GRCm39) |
|
probably null |
Het |
| Armc9 |
G |
A |
1: 86,113,838 (GRCm39) |
M298I |
probably benign |
Het |
| BC004004 |
G |
A |
17: 29,513,389 (GRCm39) |
|
probably null |
Het |
| Ccdc83 |
A |
T |
7: 89,899,737 (GRCm39) |
F45Y |
probably damaging |
Het |
| Cct8l1 |
G |
A |
5: 25,721,881 (GRCm39) |
V199I |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh17 |
G |
T |
4: 11,810,325 (GRCm39) |
G672V |
probably damaging |
Het |
| Cdh5 |
C |
A |
8: 104,867,334 (GRCm39) |
T537K |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,982,667 (GRCm39) |
S1377R |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,079,437 (GRCm39) |
N1821S |
probably benign |
Het |
| Cnot3 |
A |
G |
7: 3,653,860 (GRCm39) |
K4R |
probably damaging |
Het |
| Colq |
T |
A |
14: 31,250,789 (GRCm39) |
I339F |
possibly damaging |
Het |
| Coq2 |
A |
T |
5: 100,815,816 (GRCm39) |
L121Q |
probably damaging |
Het |
| Csnk1e |
G |
A |
15: 79,305,072 (GRCm39) |
R342* |
probably null |
Het |
| Cstl1 |
A |
T |
2: 148,592,847 (GRCm39) |
M1L |
probably benign |
Het |
| Cwh43 |
A |
G |
5: 73,581,256 (GRCm39) |
|
probably null |
Het |
| Cyp2a22 |
A |
T |
7: 26,631,906 (GRCm39) |
F450Y |
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,287,954 (GRCm39) |
R383H |
probably benign |
Het |
| Cyp4a29 |
A |
G |
4: 115,104,860 (GRCm39) |
T123A |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,841,972 (GRCm39) |
K417E |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,046,188 (GRCm39) |
L1750* |
probably null |
Het |
| Edn1 |
A |
G |
13: 42,457,153 (GRCm39) |
E62G |
probably damaging |
Het |
| Eef1akmt1 |
A |
G |
14: 57,803,464 (GRCm39) |
L30P |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,926,256 (GRCm39) |
W313R |
probably damaging |
Het |
| Fign |
A |
T |
2: 63,810,037 (GRCm39) |
L411* |
probably null |
Het |
| Fitm1 |
T |
A |
14: 55,813,230 (GRCm39) |
V31E |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,232,110 (GRCm39) |
P1550L |
probably damaging |
Het |
| Gabrd |
A |
C |
4: 155,471,619 (GRCm39) |
F228C |
probably damaging |
Het |
| Gm5916 |
A |
C |
9: 36,039,964 (GRCm39) |
L8R |
probably benign |
Het |
| Gpr108 |
A |
G |
17: 57,542,335 (GRCm39) |
S557P |
probably damaging |
Het |
| Gpr75 |
C |
A |
11: 30,842,380 (GRCm39) |
N428K |
probably damaging |
Het |
| H2-M5 |
T |
G |
17: 37,298,076 (GRCm39) |
|
probably null |
Het |
| Hdac6 |
A |
G |
X: 7,811,036 (GRCm39) |
F104L |
probably damaging |
Homo |
| Homer3 |
T |
C |
8: 70,744,005 (GRCm39) |
V243A |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,267,541 (GRCm39) |
S2050P |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,265,105 (GRCm39) |
N2763D |
probably benign |
Het |
| Ifi203 |
T |
C |
1: 173,762,676 (GRCm39) |
Q152R |
possibly damaging |
Het |
| Ifi44 |
T |
C |
3: 151,455,269 (GRCm39) |
|
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,986,361 (GRCm39) |
T43A |
probably benign |
Het |
| Ighv1-24 |
A |
G |
12: 114,736,748 (GRCm39) |
Y51H |
probably benign |
Het |
| Inf2 |
A |
T |
12: 112,578,473 (GRCm39) |
|
probably null |
Het |
| Insl6 |
T |
C |
19: 29,302,655 (GRCm39) |
R21G |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,806,851 (GRCm39) |
C1043R |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,438,545 (GRCm39) |
M1K |
probably null |
Het |
| Mrtfa |
A |
G |
15: 80,906,627 (GRCm39) |
V91A |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,931,444 (GRCm39) |
|
probably benign |
Het |
| Ncald |
A |
T |
15: 37,397,478 (GRCm39) |
H67Q |
probably damaging |
Het |
| Nek9 |
C |
A |
12: 85,374,233 (GRCm39) |
R268L |
possibly damaging |
Het |
| Nudt5 |
T |
A |
2: 5,869,198 (GRCm39) |
H141Q |
probably benign |
Het |
| Numbl |
G |
A |
7: 26,980,415 (GRCm39) |
D466N |
probably damaging |
Het |
| Or14c46 |
A |
G |
7: 85,918,799 (GRCm39) |
I66T |
probably damaging |
Het |
| Or2l5 |
A |
G |
16: 19,333,777 (GRCm39) |
I203T |
probably benign |
Het |
| Or4c100 |
T |
C |
2: 88,356,385 (GRCm39) |
S153P |
probably damaging |
Het |
| Or51l14 |
A |
T |
7: 103,100,617 (GRCm39) |
E24D |
probably benign |
Het |
| Or52n2c |
A |
C |
7: 104,574,700 (GRCm39) |
N90K |
probably benign |
Het |
| Or6x1 |
T |
C |
9: 40,098,960 (GRCm39) |
L183S |
probably damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,666 (GRCm39) |
V158D |
possibly damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,665,873 (GRCm39) |
C65S |
probably null |
Het |
| Plagl1 |
A |
G |
10: 13,003,005 (GRCm39) |
Y91C |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,908,693 (GRCm39) |
N506S |
possibly damaging |
Het |
| Pomt2 |
A |
C |
12: 87,180,234 (GRCm39) |
C256G |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,945,763 (GRCm39) |
D444E |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,141,272 (GRCm39) |
N573I |
probably damaging |
Het |
| Ptprf |
C |
A |
4: 118,069,196 (GRCm39) |
G1624W |
probably damaging |
Het |
| Rbm38 |
C |
T |
2: 172,863,875 (GRCm39) |
P15S |
probably benign |
Het |
| Rc3h1 |
A |
G |
1: 160,787,047 (GRCm39) |
D814G |
possibly damaging |
Het |
| Rnf40 |
T |
C |
7: 127,196,458 (GRCm39) |
L802P |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,240 (GRCm39) |
D182G |
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,298,977 (GRCm39) |
|
probably benign |
Het |
| Slc4a2 |
G |
A |
5: 24,643,760 (GRCm39) |
S855N |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,884,508 (GRCm39) |
L626P |
possibly damaging |
Het |
| Slirp |
A |
G |
12: 87,490,784 (GRCm39) |
T29A |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,299,809 (GRCm39) |
D158G |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,854 (GRCm39) |
|
probably null |
Het |
| St3gal5 |
T |
C |
6: 72,109,037 (GRCm39) |
C42R |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,792 (GRCm39) |
S397P |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,959,208 (GRCm39) |
T1114S |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,693,960 (GRCm39) |
D1263V |
probably damaging |
Het |
| Tmco3 |
G |
T |
8: 13,342,860 (GRCm39) |
E199* |
probably null |
Het |
| Tpcn1 |
A |
T |
5: 120,686,334 (GRCm39) |
|
probably null |
Het |
| Tppp2 |
G |
A |
14: 52,157,912 (GRCm39) |
R119Q |
probably benign |
Het |
| Trim30d |
A |
C |
7: 104,137,165 (GRCm39) |
V13G |
probably damaging |
Het |
| Ubxn2b |
A |
T |
4: 6,214,746 (GRCm39) |
Q260L |
probably damaging |
Het |
| Ufl1 |
A |
G |
4: 25,254,780 (GRCm39) |
Y559H |
probably benign |
Het |
| Usp5 |
A |
G |
6: 124,803,342 (GRCm39) |
F7L |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,259,948 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,894 (GRCm39) |
I246F |
probably benign |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,321 (GRCm39) |
M753I |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,325,941 (GRCm39) |
H365R |
probably benign |
Het |
| Zfp976 |
A |
T |
7: 42,262,354 (GRCm39) |
Y494* |
probably null |
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 |
|
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'- ATCTGGGAAGTCCATTTGTTTCC -3'
(R):5'- TGTCACTAGCGGCTGGTTATC -3'
Sequencing Primer
(F):5'- GGGAAGTCCATTTGTTTCCTTTCC -3'
(R):5'- CACTAGCGGCTGGTTATCATTAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation