Incidental Mutation 'IGL02852:Clca3a2'
| ID |
361915 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clca3a2
|
| Ensembl Gene |
ENSMUSG00000028262 |
| Gene Name |
chloride channel accessory 3A2 |
| Synonyms |
Clca2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02852
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
144796559-144819494 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144806343 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 544
(D544G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029929]
[ENSMUST00000199029]
|
| AlphaFold |
Q9EQR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029929
AA Change: D544G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: D544G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
306 |
478 |
1.5e-21 |
SMART |
|
FN3
|
758 |
857 |
5.49e0 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197013
AA Change: D104G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199029
|
| SMART Domains |
Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLCA
|
1 |
188 |
6.5e-77 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcar1 |
A |
T |
8: 111,715,347 (GRCm38) |
L287* |
probably null |
Het |
| Birc3 |
A |
G |
9: 7,854,483 (GRCm38) |
I402T |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,512,656 (GRCm38) |
L153* |
probably null |
Het |
| C2cd3 |
T |
C |
7: 100,430,189 (GRCm38) |
F1245L |
probably damaging |
Het |
| Cabp7 |
C |
T |
11: 4,738,912 (GRCm38) |
R186H |
probably damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,856,139 (GRCm38) |
S348P |
probably benign |
Het |
| Col6a6 |
A |
C |
9: 105,784,073 (GRCm38) |
I279S |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,895,728 (GRCm38) |
T3562S |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,935,413 (GRCm38) |
S61P |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,928,671 (GRCm38) |
M266K |
possibly damaging |
Het |
| Gm14226 |
G |
A |
2: 155,024,921 (GRCm38) |
S266N |
possibly damaging |
Het |
| Gm28047 |
A |
G |
15: 102,538,218 (GRCm38) |
V400A |
possibly damaging |
Het |
| Gm4788 |
T |
C |
1: 139,774,016 (GRCm38) |
Y120C |
probably damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,691 (GRCm38) |
D499G |
probably benign |
Het |
| Hoxb7 |
C |
T |
11: 96,289,494 (GRCm38) |
T173M |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,609,616 (GRCm38) |
I444N |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,291,328 (GRCm38) |
I27T |
probably damaging |
Het |
| Krtap8-1 |
A |
G |
16: 89,487,865 (GRCm38) |
Y15H |
probably benign |
Het |
| Myo18b |
C |
T |
5: 112,715,511 (GRCm38) |
V2154I |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,302,097 (GRCm38) |
D372G |
probably damaging |
Het |
| Pfkp |
G |
T |
13: 6,605,023 (GRCm38) |
P340Q |
possibly damaging |
Het |
| Plcd3 |
C |
T |
11: 103,073,805 (GRCm38) |
R580Q |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,025,059 (GRCm38) |
R40Q |
probably benign |
Het |
| Ppara |
G |
T |
15: 85,797,878 (GRCm38) |
M258I |
probably benign |
Het |
| Proc |
A |
G |
18: 32,125,155 (GRCm38) |
S246P |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,715,195 (GRCm38) |
|
probably null |
Het |
| Ripor2 |
T |
C |
13: 24,695,698 (GRCm38) |
F383S |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 36,945,202 (GRCm38) |
|
probably benign |
Het |
| Sema6c |
C |
A |
3: 95,169,984 (GRCm38) |
|
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,469,579 (GRCm38) |
E196G |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,547,824 (GRCm38) |
L313* |
probably null |
Het |
| Slit2 |
T |
C |
5: 48,244,672 (GRCm38) |
F789S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,244,110 (GRCm38) |
M2219V |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,326,071 (GRCm38) |
H380L |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,855,324 (GRCm38) |
Y859H |
probably damaging |
Het |
| Trcg1 |
A |
T |
9: 57,241,312 (GRCm38) |
T56S |
possibly damaging |
Het |
| Ttc23 |
T |
A |
7: 67,667,155 (GRCm38) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,944,304 (GRCm38) |
|
probably benign |
Het |
| Uba1y |
C |
T |
Y: 828,841 (GRCm38) |
R550* |
probably null |
Het |
| Ubqln4 |
T |
C |
3: 88,555,471 (GRCm38) |
V81A |
probably damaging |
Het |
| Ugt2b38 |
C |
T |
5: 87,411,741 (GRCm38) |
E431K |
probably benign |
Het |
| Vmn1r85 |
T |
G |
7: 13,085,083 (GRCm38) |
I45L |
possibly damaging |
Het |
| Vmn2r68 |
T |
G |
7: 85,233,387 (GRCm38) |
S386R |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,583,309 (GRCm38) |
T902A |
possibly damaging |
Het |
| Zc3h15 |
G |
A |
2: 83,644,671 (GRCm38) |
A7T |
possibly damaging |
Het |
| Zdhhc19 |
A |
C |
16: 32,497,642 (GRCm38) |
T72P |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,619,951 (GRCm38) |
S720T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,592,823 (GRCm38) |
K441R |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm38) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm38) |
H213L |
probably benign |
Het |
|
| Other mutations in Clca3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Clca3a2
|
APN |
3 |
144,813,627 (GRCm38) |
nonsense |
probably null |
|
|
IGL01663:Clca3a2
|
APN |
3 |
144,817,155 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01779:Clca3a2
|
APN |
3 |
144,819,378 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02066:Clca3a2
|
APN |
3 |
144,813,455 (GRCm38) |
missense |
probably benign |
|
|
IGL02301:Clca3a2
|
APN |
3 |
144,806,372 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02619:Clca3a2
|
APN |
3 |
144,806,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02901:Clca3a2
|
APN |
3 |
144,816,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03162:Clca3a2
|
APN |
3 |
144,806,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Clca3a2
|
UTSW |
3 |
144,816,733 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0244:Clca3a2
|
UTSW |
3 |
144,813,898 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1249:Clca3a2
|
UTSW |
3 |
144,803,004 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1370:Clca3a2
|
UTSW |
3 |
144,813,863 (GRCm38) |
splice site |
probably benign |
|
|
R1586:Clca3a2
|
UTSW |
3 |
144,810,716 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1776:Clca3a2
|
UTSW |
3 |
144,813,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1797:Clca3a2
|
UTSW |
3 |
144,797,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1869:Clca3a2
|
UTSW |
3 |
144,806,403 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1871:Clca3a2
|
UTSW |
3 |
144,797,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1919:Clca3a2
|
UTSW |
3 |
144,810,696 (GRCm38) |
missense |
probably benign |
|
|
R1923:Clca3a2
|
UTSW |
3 |
144,805,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2200:Clca3a2
|
UTSW |
3 |
144,813,924 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2324:Clca3a2
|
UTSW |
3 |
144,806,280 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2937:Clca3a2
|
UTSW |
3 |
144,813,918 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3429:Clca3a2
|
UTSW |
3 |
144,806,327 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3434:Clca3a2
|
UTSW |
3 |
144,808,761 (GRCm38) |
unclassified |
probably benign |
|
|
R3551:Clca3a2
|
UTSW |
3 |
144,803,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3952:Clca3a2
|
UTSW |
3 |
144,803,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4120:Clca3a2
|
UTSW |
3 |
144,810,852 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4383:Clca3a2
|
UTSW |
3 |
144,806,320 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4518:Clca3a2
|
UTSW |
3 |
144,808,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4598:Clca3a2
|
UTSW |
3 |
144,805,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Clca3a2
|
UTSW |
3 |
144,807,351 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4802:Clca3a2
|
UTSW |
3 |
144,807,351 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4816:Clca3a2
|
UTSW |
3 |
144,810,852 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4934:Clca3a2
|
UTSW |
3 |
144,817,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4942:Clca3a2
|
UTSW |
3 |
144,806,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5123:Clca3a2
|
UTSW |
3 |
144,806,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5156:Clca3a2
|
UTSW |
3 |
144,805,838 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5275:Clca3a2
|
UTSW |
3 |
144,813,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5372:Clca3a2
|
UTSW |
3 |
144,797,525 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5656:Clca3a2
|
UTSW |
3 |
144,797,632 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6059:Clca3a2
|
UTSW |
3 |
144,810,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6155:Clca3a2
|
UTSW |
3 |
144,819,357 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6254:Clca3a2
|
UTSW |
3 |
144,802,134 (GRCm38) |
missense |
probably benign |
|
|
R6336:Clca3a2
|
UTSW |
3 |
144,806,478 (GRCm38) |
missense |
probably benign |
|
|
R6470:Clca3a2
|
UTSW |
3 |
144,804,263 (GRCm38) |
splice site |
probably null |
|
|
R6593:Clca3a2
|
UTSW |
3 |
144,808,577 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6631:Clca3a2
|
UTSW |
3 |
144,813,644 (GRCm38) |
missense |
probably benign |
|
|
R6826:Clca3a2
|
UTSW |
3 |
144,818,054 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6836:Clca3a2
|
UTSW |
3 |
144,806,383 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6896:Clca3a2
|
UTSW |
3 |
144,808,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7211:Clca3a2
|
UTSW |
3 |
144,814,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7324:Clca3a2
|
UTSW |
3 |
144,808,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7411:Clca3a2
|
UTSW |
3 |
144,802,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7486:Clca3a2
|
UTSW |
3 |
144,797,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7491:Clca3a2
|
UTSW |
3 |
144,813,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7521:Clca3a2
|
UTSW |
3 |
144,801,913 (GRCm38) |
makesense |
probably null |
|
|
R7889:Clca3a2
|
UTSW |
3 |
144,810,813 (GRCm38) |
nonsense |
probably null |
|
|
R7946:Clca3a2
|
UTSW |
3 |
144,807,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7991:Clca3a2
|
UTSW |
3 |
144,813,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8022:Clca3a2
|
UTSW |
3 |
144,805,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8344:Clca3a2
|
UTSW |
3 |
144,805,942 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8367:Clca3a2
|
UTSW |
3 |
144,817,747 (GRCm38) |
splice site |
probably null |
|
|
R8371:Clca3a2
|
UTSW |
3 |
144,807,353 (GRCm38) |
nonsense |
probably null |
|
|
R8814:Clca3a2
|
UTSW |
3 |
144,797,764 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9031:Clca3a2
|
UTSW |
3 |
144,805,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9069:Clca3a2
|
UTSW |
3 |
144,813,686 (GRCm38) |
splice site |
probably benign |
|
|
R9201:Clca3a2
|
UTSW |
3 |
144,813,923 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9261:Clca3a2
|
UTSW |
3 |
144,819,397 (GRCm38) |
missense |
probably benign |
|
|
R9469:Clca3a2
|
UTSW |
3 |
144,802,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9515:Clca3a2
|
UTSW |
3 |
144,803,047 (GRCm38) |
nonsense |
probably null |
|
|
R9569:Clca3a2
|
UTSW |
3 |
144,807,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9664:Clca3a2
|
UTSW |
3 |
144,797,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation