Incidental Mutation 'IGL02514:Clca4a'
ID |
296679 |
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 # |
IGL02514
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 144660832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 664
(S664F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029923]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029923
AA Change: S664F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029923 Gene: ENSMUSG00000068547 AA Change: S664F
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136170
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
A |
T |
1: 138,779,909 (GRCm39) |
C114* |
probably null |
Het |
4933421I07Rik |
A |
G |
7: 42,096,981 (GRCm39) |
M110T |
probably damaging |
Het |
Amer1 |
A |
G |
X: 94,470,117 (GRCm39) |
V667A |
possibly damaging |
Het |
Casr |
C |
T |
16: 36,320,687 (GRCm39) |
G487E |
probably damaging |
Het |
Catsperd |
G |
A |
17: 56,968,271 (GRCm39) |
G552D |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,304,826 (GRCm39) |
V2208A |
probably benign |
Het |
Cibar1 |
T |
G |
4: 12,164,080 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,556,199 (GRCm39) |
S40T |
unknown |
Het |
Dhodh |
G |
A |
8: 110,332,896 (GRCm39) |
R58* |
probably null |
Het |
Dhx36 |
A |
G |
3: 62,408,319 (GRCm39) |
L173S |
possibly damaging |
Het |
Dnaaf5 |
C |
T |
5: 139,159,872 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,565,470 (GRCm39) |
D2546G |
probably damaging |
Het |
Eef2 |
T |
G |
10: 81,015,427 (GRCm39) |
I316S |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,917,143 (GRCm39) |
D139G |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,755,512 (GRCm39) |
|
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,853,505 (GRCm39) |
I357N |
possibly damaging |
Het |
Elovl2 |
G |
A |
13: 41,348,247 (GRCm39) |
T44M |
probably benign |
Het |
Fbln1 |
T |
A |
15: 85,128,463 (GRCm39) |
C553* |
probably null |
Het |
Fip1l1 |
T |
C |
5: 74,731,813 (GRCm39) |
V310A |
probably damaging |
Het |
Gast |
A |
G |
11: 100,227,718 (GRCm39) |
D100G |
probably benign |
Het |
Gk |
G |
A |
X: 84,756,970 (GRCm39) |
|
probably benign |
Het |
Gm1330 |
G |
A |
2: 148,841,305 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
A |
4: 137,296,887 (GRCm39) |
T4355K |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,648,035 (GRCm39) |
V639A |
possibly damaging |
Het |
Lrrc7 |
T |
C |
3: 157,865,929 (GRCm39) |
M1271V |
probably damaging |
Het |
Msantd1 |
T |
A |
5: 35,078,887 (GRCm39) |
S141T |
probably damaging |
Het |
Myo9b |
T |
C |
8: 71,743,650 (GRCm39) |
I237T |
probably damaging |
Het |
Or10ag59 |
G |
A |
2: 87,405,537 (GRCm39) |
M36I |
probably benign |
Het |
Or13a21 |
A |
T |
7: 139,999,507 (GRCm39) |
Y60N |
probably damaging |
Het |
Or2w3 |
T |
C |
11: 58,556,469 (GRCm39) |
F28S |
probably damaging |
Het |
Or4k40 |
A |
C |
2: 111,251,117 (GRCm39) |
Y60D |
probably damaging |
Het |
Pan2 |
A |
T |
10: 128,146,610 (GRCm39) |
M416L |
possibly damaging |
Het |
Pank4 |
T |
C |
4: 155,054,922 (GRCm39) |
F209L |
probably damaging |
Het |
Pcdhb13 |
A |
T |
18: 37,576,044 (GRCm39) |
I141L |
possibly damaging |
Het |
Pik3r2 |
A |
G |
8: 71,223,236 (GRCm39) |
Y422H |
probably benign |
Het |
Pramel14 |
T |
C |
4: 143,719,772 (GRCm39) |
K198E |
probably benign |
Het |
Prdm4 |
A |
T |
10: 85,743,781 (GRCm39) |
I158N |
probably damaging |
Het |
Prl |
T |
G |
13: 27,243,377 (GRCm39) |
L14R |
probably damaging |
Het |
Rabl6 |
C |
A |
2: 25,498,188 (GRCm39) |
A23S |
probably damaging |
Het |
Rbm15b |
T |
A |
9: 106,762,176 (GRCm39) |
H664L |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,125,471 (GRCm39) |
H618Q |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,724,452 (GRCm39) |
K140R |
probably damaging |
Het |
Slc6a17 |
A |
G |
3: 107,402,993 (GRCm39) |
S145P |
possibly damaging |
Het |
Snx31 |
T |
C |
15: 36,525,728 (GRCm39) |
T324A |
probably damaging |
Het |
Spatc1l |
T |
C |
10: 76,405,490 (GRCm39) |
|
probably benign |
Het |
Taar7b |
A |
G |
10: 23,876,882 (GRCm39) |
N349S |
probably benign |
Het |
Tbx19 |
T |
C |
1: 164,981,273 (GRCm39) |
I74V |
probably benign |
Het |
Tmtc2 |
G |
A |
10: 105,025,960 (GRCm39) |
T836I |
possibly damaging |
Het |
Vmn2r72 |
C |
A |
7: 85,387,907 (GRCm39) |
M552I |
possibly damaging |
Het |
Vsig10l |
A |
G |
7: 43,113,338 (GRCm39) |
T199A |
probably benign |
Het |
Washc4 |
A |
T |
10: 83,405,947 (GRCm39) |
E481V |
probably damaging |
Het |
Zc3h15 |
T |
A |
2: 83,483,725 (GRCm39) |
N33K |
probably damaging |
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 |
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 |
|
IGL03058:Clca4a
|
APN |
3 |
144,667,595 (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 |
2015-04-16 |