Incidental Mutation 'R6414:Atp2c1'
| ID |
514865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2c1
|
| Ensembl Gene |
ENSMUSG00000032570 |
| Gene Name |
ATPase, Ca++-sequestering |
| Synonyms |
ATP2C1A, D930003G21Rik, SPCA, 1700121J11Rik, PMR1 |
| MMRRC Submission |
044556-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.403)
|
| Stock # |
R6414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105288561-105398456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105343855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 84
(I84N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038118]
[ENSMUST00000085133]
[ENSMUST00000112558]
[ENSMUST00000163879]
[ENSMUST00000176036]
[ENSMUST00000176190]
[ENSMUST00000176363]
[ENSMUST00000176651]
[ENSMUST00000176770]
[ENSMUST00000177074]
[ENSMUST00000177334]
|
| AlphaFold |
Q80XR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038118
AA Change: I84N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039103
Gene: ENSMUSG00000032570
AA Change: I84N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
25 |
99 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
105 |
339 |
2.3e-75 |
PFAM |
|
Pfam:Hydrolase
|
343 |
655 |
2.9e-31 |
PFAM |
|
Pfam:HAD
|
346 |
652 |
7.7e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
408 |
492 |
9.5e-20 |
PFAM |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
725 |
897 |
4e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085133
AA Change: I118N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082220
Gene: ENSMUSG00000032570
AA Change: I118N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
59 |
133 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
138 |
372 |
3.4e-62 |
PFAM |
|
Pfam:Hydrolase
|
377 |
689 |
2.6e-23 |
PFAM |
|
Pfam:HAD
|
380 |
686 |
7.8e-14 |
PFAM |
|
Pfam:Cation_ATPase
|
442 |
526 |
3.2e-19 |
PFAM |
|
low complexity region
|
740 |
755 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
759 |
931 |
3.8e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112558
AA Change: I84N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108177
Gene: ENSMUSG00000032570
AA Change: I84N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
25 |
99 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
105 |
339 |
2.3e-75 |
PFAM |
|
Pfam:Hydrolase
|
343 |
655 |
2.9e-31 |
PFAM |
|
Pfam:HAD
|
346 |
652 |
7.7e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
408 |
492 |
9.5e-20 |
PFAM |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
725 |
897 |
4e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163879
AA Change: I68N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129617
Gene: ENSMUSG00000032570
AA Change: I68N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
9 |
83 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
89 |
323 |
5.2e-76 |
PFAM |
|
Pfam:Hydrolase
|
327 |
639 |
5.6e-32 |
PFAM |
|
Pfam:HAD
|
330 |
636 |
1.4e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
392 |
476 |
3.2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176036
AA Change: I84N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135010
Gene: ENSMUSG00000032570
AA Change: I84N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
25 |
99 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
105 |
177 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176190
AA Change: I68N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135320
Gene: ENSMUSG00000032570
AA Change: I68N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
9 |
83 |
1.85e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176363
AA Change: I88N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135170
Gene: ENSMUSG00000032570
AA Change: I88N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
29 |
103 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
109 |
231 |
3e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176651
AA Change: I68N
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135732
Gene: ENSMUSG00000032570
AA Change: I68N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
9 |
83 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
89 |
253 |
6.4e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176770
AA Change: I79N
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134764
Gene: ENSMUSG00000032570
AA Change: I79N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1-E2_ATPase
|
100 |
334 |
8.9e-76 |
PFAM |
|
Pfam:Hydrolase
|
338 |
650 |
1.1e-31 |
PFAM |
|
Pfam:HAD
|
341 |
647 |
2.7e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
403 |
487 |
4.8e-20 |
PFAM |
|
low complexity region
|
701 |
716 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
720 |
892 |
1.6e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177074
AA Change: I84N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135646
Gene: ENSMUSG00000032570
AA Change: I84N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
25 |
99 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
105 |
339 |
8.2e-76 |
PFAM |
|
Pfam:Hydrolase
|
343 |
655 |
1e-31 |
PFAM |
|
Pfam:HAD
|
346 |
652 |
2.5e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
408 |
492 |
4.5e-20 |
PFAM |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
725 |
886 |
7e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177334
AA Change: I84N
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134902
Gene: ENSMUSG00000032570
AA Change: I84N
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
25 |
99 |
1.85e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188984
|
| Meta Mutation Damage Score |
0.7034 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth retardation, failure of rostral neural tube closure, Golgi and endoplasmic reticulum stress, increased apoptosis, accumulation of intracellular lipid droplets and midgestational lethality. Agedheterozygotes develop squamous cell tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
| Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,858 (GRCm39) |
D715G |
probably benign |
Het |
| Atg101 |
T |
A |
15: 101,188,341 (GRCm39) |
C149S |
probably benign |
Het |
| Ceacam20 |
C |
A |
7: 19,710,056 (GRCm39) |
A360E |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,243,371 (GRCm39) |
|
probably null |
Het |
| Clcc1 |
G |
A |
3: 108,584,167 (GRCm39) |
C517Y |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,769,465 (GRCm39) |
|
probably null |
Het |
| Ctnna3 |
T |
C |
10: 64,096,644 (GRCm39) |
V394A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,948,113 (GRCm39) |
F188S |
probably damaging |
Het |
| Cyth4 |
T |
C |
15: 78,492,346 (GRCm39) |
V125A |
probably damaging |
Het |
| Ddx43 |
G |
A |
9: 78,308,218 (GRCm39) |
V131I |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,734,788 (GRCm39) |
S16P |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,223,995 (GRCm39) |
V1182E |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,223,935 (GRCm39) |
S1094P |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,748,014 (GRCm39) |
V350D |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,858,773 (GRCm39) |
F1545S |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,863,245 (GRCm39) |
H423L |
possibly damaging |
Het |
| Golt1a |
A |
T |
1: 133,248,032 (GRCm39) |
M87L |
probably damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,544 (GRCm39) |
V77E |
probably damaging |
Het |
| Hectd2 |
A |
G |
19: 36,596,186 (GRCm39) |
D757G |
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,606,694 (GRCm39) |
|
probably null |
Het |
| Il31ra |
A |
G |
13: 112,660,441 (GRCm39) |
V635A |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,053,905 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
G |
A |
7: 27,010,140 (GRCm39) |
P1140L |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,386,988 (GRCm39) |
L1210P |
possibly damaging |
Het |
| Meox2 |
A |
T |
12: 37,158,830 (GRCm39) |
M1L |
probably benign |
Het |
| Mex3d |
A |
G |
10: 80,217,205 (GRCm39) |
S671P |
unknown |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,129 (GRCm39) |
V199I |
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,902,271 (GRCm39) |
V114E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,834 (GRCm39) |
K1927E |
unknown |
Het |
| Or4f52 |
A |
C |
2: 111,061,497 (GRCm39) |
|
probably null |
Het |
| Or6c35 |
T |
A |
10: 129,169,578 (GRCm39) |
I276K |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,617,911 (GRCm39) |
C1734Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,864,838 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,021,258 (GRCm39) |
N162K |
probably damaging |
Het |
| Pcdhb10 |
A |
C |
18: 37,546,898 (GRCm39) |
H658P |
possibly damaging |
Het |
| Pgm2l1 |
G |
T |
7: 99,904,747 (GRCm39) |
A160S |
possibly damaging |
Het |
| Prkag2 |
T |
A |
5: 25,305,178 (GRCm39) |
|
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,296,616 (GRCm39) |
L457P |
probably damaging |
Het |
| Rasef |
C |
T |
4: 73,658,818 (GRCm39) |
V463M |
probably benign |
Het |
| Rb1 |
T |
C |
14: 73,520,414 (GRCm39) |
S42G |
unknown |
Het |
| Reep3 |
C |
A |
10: 66,875,356 (GRCm39) |
V36F |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,716 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
T |
C |
5: 124,533,994 (GRCm39) |
S661G |
probably benign |
Het |
| Slc25a3 |
T |
G |
10: 90,958,190 (GRCm39) |
Q50P |
possibly damaging |
Het |
| Slc2a13 |
T |
A |
15: 91,228,008 (GRCm39) |
I395F |
probably benign |
Het |
| Slc6a5 |
C |
T |
7: 49,559,991 (GRCm39) |
|
probably benign |
Het |
| Snta1 |
G |
C |
2: 154,219,987 (GRCm39) |
T391S |
possibly damaging |
Het |
| Spata7 |
T |
C |
12: 98,629,479 (GRCm39) |
|
probably null |
Het |
| Stx17 |
A |
G |
4: 48,158,809 (GRCm39) |
|
probably null |
Het |
| Terf2 |
A |
T |
8: 107,803,486 (GRCm39) |
S365T |
probably benign |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Trim8 |
A |
T |
19: 46,491,346 (GRCm39) |
H155L |
probably benign |
Het |
| Wipi2 |
T |
A |
5: 142,641,693 (GRCm39) |
V83D |
probably damaging |
Het |
| Zbtb47 |
T |
G |
9: 121,592,725 (GRCm39) |
D348E |
probably benign |
Het |
| Zfp316 |
C |
A |
5: 143,240,639 (GRCm39) |
R460L |
possibly damaging |
Het |
| Zfp799 |
C |
T |
17: 33,039,259 (GRCm39) |
V336M |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,365,395 (GRCm39) |
I93N |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,968,694 (GRCm39) |
Y74H |
probably benign |
Het |
|
| Other mutations in Atp2c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Atp2c1
|
APN |
9 |
105,295,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01682:Atp2c1
|
APN |
9 |
105,330,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01874:Atp2c1
|
APN |
9 |
105,326,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02299:Atp2c1
|
APN |
9 |
105,338,286 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03186:Atp2c1
|
APN |
9 |
105,290,329 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03212:Atp2c1
|
APN |
9 |
105,322,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Atp2c1
|
UTSW |
9 |
105,319,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
BB012:Atp2c1
|
UTSW |
9 |
105,319,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02799:Atp2c1
|
UTSW |
9 |
105,290,242 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03047:Atp2c1
|
UTSW |
9 |
105,398,206 (GRCm39) |
intron |
probably benign |
|
|
R0885:Atp2c1
|
UTSW |
9 |
105,298,772 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1072:Atp2c1
|
UTSW |
9 |
105,336,943 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1469:Atp2c1
|
UTSW |
9 |
105,312,351 (GRCm39) |
nonsense |
probably null |
|
|
R1469:Atp2c1
|
UTSW |
9 |
105,312,351 (GRCm39) |
nonsense |
probably null |
|
|
R1611:Atp2c1
|
UTSW |
9 |
105,320,051 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1638:Atp2c1
|
UTSW |
9 |
105,309,897 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1667:Atp2c1
|
UTSW |
9 |
105,309,996 (GRCm39) |
missense |
probably null |
0.94 |
|
R1722:Atp2c1
|
UTSW |
9 |
105,316,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1734:Atp2c1
|
UTSW |
9 |
105,291,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Atp2c1
|
UTSW |
9 |
105,308,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1964:Atp2c1
|
UTSW |
9 |
105,323,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Atp2c1
|
UTSW |
9 |
105,309,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2093:Atp2c1
|
UTSW |
9 |
105,295,320 (GRCm39) |
nonsense |
probably null |
|
|
R3720:Atp2c1
|
UTSW |
9 |
105,300,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Atp2c1
|
UTSW |
9 |
105,343,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Atp2c1
|
UTSW |
9 |
105,312,339 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4763:Atp2c1
|
UTSW |
9 |
105,295,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Atp2c1
|
UTSW |
9 |
105,320,149 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5121:Atp2c1
|
UTSW |
9 |
105,326,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Atp2c1
|
UTSW |
9 |
105,291,924 (GRCm39) |
nonsense |
probably null |
|
|
R5551:Atp2c1
|
UTSW |
9 |
105,336,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Atp2c1
|
UTSW |
9 |
105,398,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6432:Atp2c1
|
UTSW |
9 |
105,322,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Atp2c1
|
UTSW |
9 |
105,330,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6719:Atp2c1
|
UTSW |
9 |
105,301,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6777:Atp2c1
|
UTSW |
9 |
105,295,799 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6847:Atp2c1
|
UTSW |
9 |
105,295,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Atp2c1
|
UTSW |
9 |
105,347,261 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7097:Atp2c1
|
UTSW |
9 |
105,341,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Atp2c1
|
UTSW |
9 |
105,297,385 (GRCm39) |
nonsense |
probably null |
|
|
R7216:Atp2c1
|
UTSW |
9 |
105,344,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7284:Atp2c1
|
UTSW |
9 |
105,398,008 (GRCm39) |
splice site |
probably null |
|
|
R7365:Atp2c1
|
UTSW |
9 |
105,300,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Atp2c1
|
UTSW |
9 |
105,329,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7818:Atp2c1
|
UTSW |
9 |
105,291,956 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7921:Atp2c1
|
UTSW |
9 |
105,291,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7925:Atp2c1
|
UTSW |
9 |
105,319,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8088:Atp2c1
|
UTSW |
9 |
105,329,768 (GRCm39) |
splice site |
probably null |
|
|
R8257:Atp2c1
|
UTSW |
9 |
105,308,756 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8260:Atp2c1
|
UTSW |
9 |
105,295,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8265:Atp2c1
|
UTSW |
9 |
105,347,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8307:Atp2c1
|
UTSW |
9 |
105,320,030 (GRCm39) |
missense |
probably benign |
|
|
R9052:Atp2c1
|
UTSW |
9 |
105,330,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9066:Atp2c1
|
UTSW |
9 |
105,330,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Atp2c1
|
UTSW |
9 |
105,336,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9257:Atp2c1
|
UTSW |
9 |
105,291,851 (GRCm39) |
nonsense |
probably null |
|
|
R9566:Atp2c1
|
UTSW |
9 |
105,343,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9779:Atp2c1
|
UTSW |
9 |
105,291,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0053:Atp2c1
|
UTSW |
9 |
105,295,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAACTCAAAGTGGGTTTATTTCC -3'
(R):5'- TGTCTAAGGCAGCAGAACCG -3'
Sequencing Primer
(F):5'- GTGGGTTTATTTCCAACATAAAAACC -3'
(R):5'- GCAGCAGAACCGAAGCCTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation