Incidental Mutation 'IGL03058:Clca4a'
| ID |
409352 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clca4a
|
| Ensembl Gene |
ENSMUSG00000068547 |
| Gene Name |
chloride channel accessory 4A |
| Synonyms |
Clca6, 9130020L07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.332)
|
| Stock # |
IGL03058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 144667595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029923]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029923
|
| SMART Domains |
Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
300 |
N/A |
INTRINSIC |
|
VWA
|
306 |
480 |
5.94e-16 |
SMART |
|
Blast:VWA
|
513 |
552 |
7e-18 |
BLAST |
|
Blast:FN3
|
757 |
838 |
8e-33 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,109,112 (GRCm39) |
V395A |
probably benign |
Het |
| Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
| Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
| B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,725,824 (GRCm39) |
E215G |
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
| Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,222,132 (GRCm39) |
D532G |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,626,831 (GRCm39) |
S230P |
probably benign |
Het |
| Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
| Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
| Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
| Mindy4 |
T |
A |
6: 55,285,183 (GRCm39) |
V659D |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
| Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
| Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
| Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
| Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,508,913 (GRCm39) |
I573M |
probably benign |
Het |
| Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
| Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
| Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,038 (GRCm39) |
F168L |
probably benign |
Het |
|
| Other mutations in Clca4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Clca4a
|
APN |
3 |
144,660,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01139:Clca4a
|
APN |
3 |
144,672,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01371:Clca4a
|
APN |
3 |
144,666,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01609:Clca4a
|
APN |
3 |
144,659,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Clca4a
|
APN |
3 |
144,663,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02172:Clca4a
|
APN |
3 |
144,676,155 (GRCm39) |
nonsense |
probably null |
|
|
IGL02217:Clca4a
|
APN |
3 |
144,667,757 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02514:Clca4a
|
APN |
3 |
144,660,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02975:Clca4a
|
APN |
3 |
144,669,530 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03025:Clca4a
|
APN |
3 |
144,663,079 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03049:Clca4a
|
APN |
3 |
144,676,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL03259:Clca4a
|
APN |
3 |
144,663,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Clca4a
|
APN |
3 |
144,672,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:Clca4a
|
APN |
3 |
144,659,627 (GRCm39) |
missense |
probably benign |
0.28 |
|
PIT4142001:Clca4a
|
UTSW |
3 |
144,674,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Clca4a
|
UTSW |
3 |
144,666,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0316:Clca4a
|
UTSW |
3 |
144,659,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Clca4a
|
UTSW |
3 |
144,675,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0680:Clca4a
|
UTSW |
3 |
144,675,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0688:Clca4a
|
UTSW |
3 |
144,667,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1137:Clca4a
|
UTSW |
3 |
144,676,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Clca4a
|
UTSW |
3 |
144,658,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1719:Clca4a
|
UTSW |
3 |
144,669,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Clca4a
|
UTSW |
3 |
144,676,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3078:Clca4a
|
UTSW |
3 |
144,674,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3080:Clca4a
|
UTSW |
3 |
144,669,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Clca4a
|
UTSW |
3 |
144,680,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Clca4a
|
UTSW |
3 |
144,663,079 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4133:Clca4a
|
UTSW |
3 |
144,675,113 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4402:Clca4a
|
UTSW |
3 |
144,658,609 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4455:Clca4a
|
UTSW |
3 |
144,663,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Clca4a
|
UTSW |
3 |
144,660,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4683:Clca4a
|
UTSW |
3 |
144,660,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Clca4a
|
UTSW |
3 |
144,660,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Clca4a
|
UTSW |
3 |
144,659,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Clca4a
|
UTSW |
3 |
144,676,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6311:Clca4a
|
UTSW |
3 |
144,672,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6492:Clca4a
|
UTSW |
3 |
144,663,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6493:Clca4a
|
UTSW |
3 |
144,663,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6494:Clca4a
|
UTSW |
3 |
144,663,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6861:Clca4a
|
UTSW |
3 |
144,676,416 (GRCm39) |
missense |
probably benign |
|
|
R7102:Clca4a
|
UTSW |
3 |
144,667,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7133:Clca4a
|
UTSW |
3 |
144,667,651 (GRCm39) |
nonsense |
probably null |
|
|
R7171:Clca4a
|
UTSW |
3 |
144,663,934 (GRCm39) |
missense |
probably benign |
|
|
R7516:Clca4a
|
UTSW |
3 |
144,672,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Clca4a
|
UTSW |
3 |
144,659,512 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7731:Clca4a
|
UTSW |
3 |
144,658,546 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7787:Clca4a
|
UTSW |
3 |
144,659,594 (GRCm39) |
missense |
probably benign |
|
|
R7820:Clca4a
|
UTSW |
3 |
144,666,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Clca4a
|
UTSW |
3 |
144,674,166 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7991:Clca4a
|
UTSW |
3 |
144,658,500 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8240:Clca4a
|
UTSW |
3 |
144,676,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Clca4a
|
UTSW |
3 |
144,676,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9373:Clca4a
|
UTSW |
3 |
144,672,133 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9488:Clca4a
|
UTSW |
3 |
144,659,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9772:Clca4a
|
UTSW |
3 |
144,676,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Clca4a
|
UTSW |
3 |
144,667,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation