Incidental Mutation 'R3789:Clca4a'
ID |
272426 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4a
|
Ensembl Gene |
ENSMUSG00000068547 |
Gene Name |
chloride channel accessory 4A |
Synonyms |
Clca6, 9130020L07Rik |
MMRRC Submission |
041604-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.367)
|
Stock # |
R3789 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 144680717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 20
(G20V)
|
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: G20V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029923 Gene: ENSMUSG00000068547 AA Change: G20V
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
Acvrl1 |
C |
T |
15: 101,035,350 (GRCm39) |
T292M |
probably damaging |
Het |
Adamts8 |
T |
C |
9: 30,870,588 (GRCm39) |
S688P |
probably damaging |
Het |
Adprs |
A |
T |
4: 126,210,544 (GRCm39) |
I312N |
probably damaging |
Het |
Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
Col12a1 |
C |
A |
9: 79,547,005 (GRCm39) |
V2276L |
possibly damaging |
Het |
Cstdc2 |
C |
A |
2: 148,689,878 (GRCm39) |
E92* |
probably null |
Het |
Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Ebf2 |
T |
A |
14: 67,476,942 (GRCm39) |
|
probably null |
Het |
Emc8 |
T |
C |
8: 121,384,869 (GRCm39) |
T195A |
probably benign |
Het |
Frs3 |
G |
A |
17: 48,010,621 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
C |
2: 82,813,058 (GRCm39) |
S640P |
probably damaging |
Het |
Hdhd2 |
G |
A |
18: 77,042,883 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
C |
4: 119,955,613 (GRCm39) |
S1310P |
probably damaging |
Het |
Hltf |
C |
T |
3: 20,123,211 (GRCm39) |
P200S |
probably damaging |
Het |
Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,407,838 (GRCm39) |
D1817G |
possibly damaging |
Het |
Lrpprc |
T |
C |
17: 85,078,956 (GRCm39) |
I253V |
probably benign |
Het |
Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
Mcm9 |
G |
A |
10: 53,492,113 (GRCm39) |
R403W |
probably damaging |
Het |
Mms22l |
A |
G |
4: 24,517,115 (GRCm39) |
D222G |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
Or56b2j |
T |
A |
7: 104,353,156 (GRCm39) |
D127E |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,730,464 (GRCm39) |
|
probably benign |
Het |
Plekha7 |
A |
C |
7: 115,774,969 (GRCm39) |
I175R |
probably damaging |
Het |
Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
Rexo2 |
A |
G |
9: 48,384,362 (GRCm39) |
I139T |
probably damaging |
Het |
Rsbn1l |
A |
C |
5: 21,101,106 (GRCm39) |
S811R |
probably benign |
Het |
Sec24b |
T |
C |
3: 129,814,276 (GRCm39) |
D345G |
probably benign |
Het |
Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
Snx33 |
T |
C |
9: 56,825,844 (GRCm39) |
E539G |
probably benign |
Het |
Sorcs3 |
A |
G |
19: 48,387,150 (GRCm39) |
T212A |
possibly damaging |
Het |
Spa17 |
T |
G |
9: 37,523,141 (GRCm39) |
K49Q |
possibly damaging |
Het |
St3gal6 |
C |
T |
16: 58,305,136 (GRCm39) |
E109K |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,050,955 (GRCm39) |
N5D |
probably benign |
Het |
Tmem232 |
C |
T |
17: 65,689,520 (GRCm39) |
D532N |
probably benign |
Het |
Tmem232 |
C |
A |
17: 65,689,628 (GRCm39) |
D496Y |
possibly damaging |
Het |
Tmem81 |
A |
G |
1: 132,435,809 (GRCm39) |
N205S |
probably benign |
Het |
Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
Vmn2r23 |
A |
T |
6: 123,718,348 (GRCm39) |
N567I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAAGCATTCAGAGGTTTTCACAG -3'
(R):5'- ACCTGGCTATGTGTATCCTATACATG -3'
Sequencing Primer
(F):5'- GCATTCAGAGGTTTTCACAGTAACTC -3'
(R):5'- TGAACATTGACCTTTAAACAGTCACC -3'
|
Posted On |
2015-03-25 |