Incidental Mutation 'IGL02217:Clca4a'
| ID |
284925 |
| 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 # |
IGL02217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144667757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 405
(T405S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029923]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029923
AA Change: T405S
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: T405S
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,603,955 (GRCm39) |
|
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,220,868 (GRCm39) |
Q647* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,598,873 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,535,881 (GRCm39) |
T1389I |
possibly damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,177,059 (GRCm39) |
|
probably benign |
Het |
| Cntln |
G |
A |
4: 85,018,495 (GRCm39) |
V1168M |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,889,132 (GRCm39) |
S1494P |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,213,541 (GRCm39) |
T758S |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,261,484 (GRCm39) |
M247K |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,305,953 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
T |
A |
4: 86,732,036 (GRCm39) |
C917S |
probably benign |
Het |
| Dhrs11 |
A |
T |
11: 84,713,221 (GRCm39) |
Y166* |
probably null |
Het |
| Dtl |
A |
G |
1: 191,300,426 (GRCm39) |
V146A |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,606,893 (GRCm39) |
E20G |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,960 (GRCm39) |
K437R |
probably benign |
Het |
| Fkbp6 |
A |
T |
5: 135,366,484 (GRCm39) |
V284E |
probably benign |
Het |
| Foxq1 |
A |
T |
13: 31,743,152 (GRCm39) |
S85C |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,113,832 (GRCm39) |
S83R |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,825,673 (GRCm39) |
D630G |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,466,471 (GRCm39) |
|
probably null |
Het |
| Hemgn |
G |
T |
4: 46,396,420 (GRCm39) |
T272K |
probably damaging |
Het |
| Ifi213 |
T |
G |
1: 173,422,598 (GRCm39) |
E89A |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,066,677 (GRCm39) |
E954G |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,348,212 (GRCm39) |
D126G |
probably damaging |
Het |
| Lbh |
A |
T |
17: 73,228,247 (GRCm39) |
I31F |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,503,697 (GRCm39) |
|
probably benign |
Het |
| Mdfic2 |
T |
A |
6: 98,225,033 (GRCm39) |
E83D |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,889 (GRCm39) |
E490G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,266 (GRCm39) |
S686P |
probably damaging |
Het |
| Nme4 |
A |
G |
17: 26,312,834 (GRCm39) |
M108T |
probably damaging |
Het |
| Nod1 |
A |
C |
6: 54,920,404 (GRCm39) |
V638G |
possibly damaging |
Het |
| Nrip2 |
A |
G |
6: 128,383,502 (GRCm39) |
N70S |
probably damaging |
Het |
| Or2bd2 |
T |
A |
7: 6,443,244 (GRCm39) |
I115N |
probably damaging |
Het |
| Or5as1 |
A |
G |
2: 86,980,231 (GRCm39) |
M258T |
probably benign |
Het |
| Pitrm1 |
G |
A |
13: 6,617,377 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,378,912 (GRCm39) |
K115E |
probably damaging |
Het |
| Ptov1 |
C |
T |
7: 44,516,900 (GRCm39) |
G70R |
probably damaging |
Het |
| Qtrt1 |
T |
G |
9: 21,328,685 (GRCm39) |
|
probably null |
Het |
| Rbbp8nl |
A |
G |
2: 179,919,981 (GRCm39) |
|
probably benign |
Het |
| Rplp1rt |
A |
T |
19: 12,824,227 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn3 |
G |
A |
19: 7,412,449 (GRCm39) |
T794I |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,390,183 (GRCm39) |
L82P |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,838,784 (GRCm39) |
L27F |
possibly damaging |
Het |
| Srpk2 |
A |
C |
5: 23,750,568 (GRCm39) |
V45G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,627,303 (GRCm39) |
F57S |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,851,196 (GRCm39) |
T1255P |
probably damaging |
Het |
| Vmn2r16 |
A |
C |
5: 109,487,676 (GRCm39) |
H183P |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,738,601 (GRCm39) |
I286T |
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 |
|
|
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