Incidental Mutation 'IGL02172:Clca4a'
| ID |
282907 |
| 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 # |
IGL02172
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 144676155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 126
(C126*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029923]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029923
AA Change: C126*
|
| SMART Domains |
Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: C126*
| 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: ENSMUST00000198898
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,341,817 (GRCm39) |
V1048A |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,367,097 (GRCm39) |
V810A |
probably benign |
Het |
| Atf1 |
T |
A |
15: 100,152,322 (GRCm39) |
V105E |
probably damaging |
Het |
| Bbs9 |
C |
T |
9: 22,490,772 (GRCm39) |
T300I |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,059,022 (GRCm39) |
V3236A |
probably damaging |
Het |
| Brd7 |
G |
T |
8: 89,078,452 (GRCm39) |
H226Q |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,705,681 (GRCm38) |
K238R |
probably damaging |
Het |
| Chordc1 |
A |
G |
9: 18,213,388 (GRCm39) |
T80A |
possibly damaging |
Het |
| Col24a1 |
A |
T |
3: 145,020,723 (GRCm39) |
T365S |
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,164,965 (GRCm39) |
G1053D |
probably damaging |
Het |
| Creb3l4 |
A |
T |
3: 90,150,082 (GRCm39) |
S20T |
probably benign |
Het |
| Cyp2c67 |
C |
T |
19: 39,637,446 (GRCm39) |
C10Y |
possibly damaging |
Het |
| Dhdh |
A |
T |
7: 45,125,041 (GRCm39) |
C294S |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,063,861 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
G |
T |
17: 56,297,244 (GRCm39) |
|
probably benign |
Het |
| Gatad2b |
A |
G |
3: 90,262,978 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,680,382 (GRCm39) |
D232G |
probably damaging |
Het |
| Gm10553 |
T |
C |
1: 85,078,015 (GRCm39) |
L44P |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,438,734 (GRCm39) |
Y883C |
probably damaging |
Het |
| Helq |
A |
G |
5: 100,938,013 (GRCm39) |
F478L |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,438,681 (GRCm39) |
|
probably benign |
Het |
| Krtcap3 |
A |
C |
5: 31,409,397 (GRCm39) |
T55P |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,355,149 (GRCm39) |
D1488G |
probably damaging |
Het |
| Mrpl1 |
T |
C |
5: 96,379,574 (GRCm39) |
V203A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,079,878 (GRCm39) |
D1084V |
possibly damaging |
Het |
| Necap2 |
T |
A |
4: 140,805,621 (GRCm39) |
|
probably benign |
Het |
| Nemp1 |
A |
G |
10: 127,528,868 (GRCm39) |
S191G |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,380 (GRCm39) |
D1059G |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 78,110,020 (GRCm39) |
|
probably benign |
Het |
| Or51e1 |
G |
A |
7: 102,359,051 (GRCm39) |
R195H |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,582 (GRCm39) |
I26V |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,627,623 (GRCm39) |
V3427G |
probably benign |
Het |
| Ptprn2 |
A |
T |
12: 116,837,317 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,397,422 (GRCm39) |
L1095H |
probably damaging |
Het |
| Ren1 |
T |
A |
1: 133,286,771 (GRCm39) |
L300Q |
possibly damaging |
Het |
| Rgl3 |
A |
G |
9: 21,888,134 (GRCm39) |
I460T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Runx1t1 |
A |
C |
4: 13,859,924 (GRCm39) |
Q265P |
probably benign |
Het |
| Sh3d21 |
A |
G |
4: 126,046,153 (GRCm39) |
S282P |
probably benign |
Het |
| Slc39a13 |
T |
C |
2: 90,893,505 (GRCm39) |
E318G |
possibly damaging |
Het |
| Srd5a3 |
T |
C |
5: 76,295,556 (GRCm39) |
I82T |
probably benign |
Het |
| Stard7 |
C |
A |
2: 127,132,792 (GRCm39) |
T220N |
probably damaging |
Het |
| Tbx4 |
G |
A |
11: 85,805,389 (GRCm39) |
G493R |
possibly damaging |
Het |
| Trerf1 |
A |
T |
17: 47,628,743 (GRCm39) |
|
noncoding transcript |
Het |
| Trim59 |
T |
A |
3: 68,944,810 (GRCm39) |
I177L |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,637,248 (GRCm39) |
M1789V |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,132 (GRCm39) |
V455A |
probably benign |
Het |
| Vmn2r118 |
C |
A |
17: 55,931,598 (GRCm39) |
M25I |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wdr90 |
G |
A |
17: 26,069,408 (GRCm39) |
T1233I |
probably benign |
Het |
| Zcchc2 |
G |
A |
1: 105,928,664 (GRCm39) |
D308N |
probably benign |
Het |
| Zfp57 |
G |
T |
17: 37,320,481 (GRCm39) |
V112L |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,135 (GRCm39) |
Y388N |
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 |
|
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 |
|
|
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 |
Incidental Mutation