Incidental Mutation 'R4893:Clca4b'
| ID |
377384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca4b
|
| Ensembl Gene |
ENSMUSG00000074195 |
| Gene Name |
chloride channel accessory 4B |
| Synonyms |
AI747448 |
| MMRRC Submission |
042498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4893 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144616682-144638290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144630934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 309
(V309M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
| AlphaFold |
Q3UW98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098549
AA Change: V309M
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: V309M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
306 |
480 |
1.03e-15 |
SMART |
|
Blast:VWA
|
513 |
552 |
6e-16 |
BLAST |
|
Blast:FN3
|
757 |
838 |
5e-35 |
BLAST |
|
low complexity region
|
882 |
906 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: No notable phenotype was detected in a high throughput screen of homozyogus mutant null mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,904 (GRCm39) |
I401T |
probably damaging |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| Acss1 |
C |
A |
2: 150,471,786 (GRCm39) |
V323F |
probably damaging |
Het |
| Adgrf3 |
T |
G |
5: 30,405,476 (GRCm39) |
D286A |
probably benign |
Het |
| Akap5 |
T |
C |
12: 76,376,743 (GRCm39) |
V718A |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,326,983 (GRCm39) |
V732A |
probably benign |
Het |
| Antxr2 |
T |
A |
5: 98,151,931 (GRCm39) |
D180V |
probably damaging |
Het |
| Arfgef2 |
T |
G |
2: 166,708,876 (GRCm39) |
F1063V |
probably benign |
Het |
| Ascl5 |
A |
T |
1: 135,978,917 (GRCm39) |
I126F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,417,577 (GRCm39) |
|
probably null |
Het |
| Atf6b |
T |
C |
17: 34,867,586 (GRCm39) |
S100P |
probably damaging |
Het |
| Baz2a |
C |
A |
10: 127,959,284 (GRCm39) |
H1266Q |
possibly damaging |
Het |
| Cdh4 |
A |
T |
2: 179,489,212 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
C |
G |
9: 108,726,620 (GRCm39) |
S3283C |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,207,104 (GRCm39) |
Y436H |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,718,372 (GRCm39) |
|
probably benign |
Het |
| Cstf1 |
C |
T |
2: 172,222,444 (GRCm39) |
R401C |
probably damaging |
Het |
| Cul3 |
A |
G |
1: 80,266,567 (GRCm39) |
I117T |
probably damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,088,776 (GRCm39) |
D124G |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,431,325 (GRCm39) |
D381G |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,702,724 (GRCm39) |
L85P |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,387,064 (GRCm39) |
I722T |
probably damaging |
Het |
| Epn3 |
A |
T |
11: 94,382,822 (GRCm39) |
F421I |
probably damaging |
Het |
| Fam83f |
T |
A |
15: 80,576,156 (GRCm39) |
L269H |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
| Gata4 |
G |
A |
14: 63,439,045 (GRCm39) |
A139V |
probably benign |
Het |
| Glce |
T |
C |
9: 61,975,777 (GRCm39) |
D241G |
probably benign |
Het |
| Gm17728 |
A |
T |
17: 9,641,063 (GRCm39) |
I58F |
probably benign |
Het |
| Inhba |
A |
T |
13: 16,201,134 (GRCm39) |
D232V |
possibly damaging |
Het |
| Itgb2l |
C |
A |
16: 96,229,021 (GRCm39) |
R394L |
probably benign |
Het |
| Klhl14 |
T |
C |
18: 21,690,992 (GRCm39) |
Y486C |
probably damaging |
Het |
| Krt1 |
A |
G |
15: 101,758,555 (GRCm39) |
I203T |
probably damaging |
Het |
| Lims2 |
T |
C |
18: 32,074,864 (GRCm39) |
|
probably null |
Het |
| Lrrc31 |
T |
G |
3: 30,733,446 (GRCm39) |
I423L |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,127,015 (GRCm39) |
D732N |
unknown |
Het |
| Mau2 |
A |
T |
8: 70,483,290 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
G |
A |
8: 120,244,932 (GRCm39) |
R840W |
probably damaging |
Het |
| Morn3 |
T |
C |
5: 123,175,745 (GRCm39) |
I214M |
probably damaging |
Het |
| Mrpl44 |
A |
G |
1: 79,755,582 (GRCm39) |
K63E |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,615,042 (GRCm39) |
T112A |
possibly damaging |
Het |
| Myo6 |
T |
A |
9: 80,136,159 (GRCm39) |
L94Q |
probably damaging |
Het |
| Nos1 |
C |
A |
5: 118,090,942 (GRCm39) |
T1423K |
possibly damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,653 (GRCm39) |
T22A |
probably benign |
Het |
| Or2t1 |
T |
C |
14: 14,328,852 (GRCm38) |
V247A |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,385,429 (GRCm39) |
T1114A |
probably benign |
Het |
| Pgm2 |
T |
C |
5: 64,263,283 (GRCm39) |
V310A |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,194,900 (GRCm39) |
E166G |
probably benign |
Het |
| Pign |
A |
T |
1: 105,574,436 (GRCm39) |
D303E |
probably damaging |
Het |
| Pik3c3 |
G |
T |
18: 30,415,053 (GRCm39) |
V149L |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,365,026 (GRCm39) |
Y1126F |
probably benign |
Het |
| Pkd2l1 |
T |
A |
19: 44,142,210 (GRCm39) |
Q516L |
probably benign |
Het |
| Pnliprp2 |
C |
A |
19: 58,759,853 (GRCm39) |
Q355K |
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,943,688 (GRCm39) |
Y1314* |
probably null |
Het |
| Ppp1r1b |
A |
G |
11: 98,246,170 (GRCm39) |
T51A |
possibly damaging |
Het |
| Prkcd |
A |
T |
14: 30,321,382 (GRCm39) |
S544T |
probably damaging |
Het |
| Pusl1 |
G |
A |
4: 155,973,998 (GRCm39) |
T252I |
probably benign |
Het |
| Rnf44 |
A |
G |
13: 54,829,745 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
T |
4: 87,145,145 (GRCm39) |
V303E |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,285,697 (GRCm39) |
|
probably null |
Het |
| Sox8 |
T |
C |
17: 25,787,963 (GRCm39) |
D162G |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,197,992 (GRCm39) |
|
probably null |
Het |
| Taar6 |
T |
C |
10: 23,861,298 (GRCm39) |
I83V |
probably benign |
Het |
| Tes |
T |
A |
6: 17,104,595 (GRCm39) |
C359S |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,676 (GRCm39) |
L435H |
probably damaging |
Het |
| Zfhx3 |
G |
T |
8: 109,683,639 (GRCm39) |
D3693Y |
unknown |
Het |
| Zfp931 |
G |
A |
2: 177,709,996 (GRCm39) |
P130L |
probably damaging |
Het |
| Zfr |
T |
G |
15: 12,136,628 (GRCm39) |
V95G |
unknown |
Het |
| Zw10 |
A |
G |
9: 48,985,325 (GRCm39) |
E587G |
possibly damaging |
Het |
|
| Other mutations in Clca4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Clca4b
|
APN |
3 |
144,638,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00391:Clca4b
|
APN |
3 |
144,621,322 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00576:Clca4b
|
APN |
3 |
144,631,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:Clca4b
|
APN |
3 |
144,633,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01539:Clca4b
|
APN |
3 |
144,631,918 (GRCm39) |
missense |
probably benign |
|
|
IGL01726:Clca4b
|
APN |
3 |
144,634,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01903:Clca4b
|
APN |
3 |
144,634,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01967:Clca4b
|
APN |
3 |
144,633,951 (GRCm39) |
splice site |
probably benign |
|
|
IGL02002:Clca4b
|
APN |
3 |
144,638,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02323:Clca4b
|
APN |
3 |
144,619,082 (GRCm39) |
missense |
probably benign |
|
|
IGL02379:Clca4b
|
APN |
3 |
144,627,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02638:Clca4b
|
APN |
3 |
144,631,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02859:Clca4b
|
APN |
3 |
144,617,800 (GRCm39) |
missense |
probably benign |
|
|
R0110:Clca4b
|
UTSW |
3 |
144,619,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Clca4b
|
UTSW |
3 |
144,628,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0311:Clca4b
|
UTSW |
3 |
144,638,257 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0348:Clca4b
|
UTSW |
3 |
144,627,741 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0450:Clca4b
|
UTSW |
3 |
144,619,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Clca4b
|
UTSW |
3 |
144,619,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Clca4b
|
UTSW |
3 |
144,627,717 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0551:Clca4b
|
UTSW |
3 |
144,634,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0552:Clca4b
|
UTSW |
3 |
144,622,536 (GRCm39) |
missense |
probably benign |
|
|
R0570:Clca4b
|
UTSW |
3 |
144,631,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0591:Clca4b
|
UTSW |
3 |
144,621,353 (GRCm39) |
nonsense |
probably null |
|
|
R0627:Clca4b
|
UTSW |
3 |
144,634,020 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0729:Clca4b
|
UTSW |
3 |
144,634,111 (GRCm39) |
splice site |
probably benign |
|
|
R0844:Clca4b
|
UTSW |
3 |
144,622,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0964:Clca4b
|
UTSW |
3 |
144,621,337 (GRCm39) |
missense |
probably benign |
|
|
R1388:Clca4b
|
UTSW |
3 |
144,622,415 (GRCm39) |
missense |
probably benign |
|
|
R1479:Clca4b
|
UTSW |
3 |
144,621,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1603:Clca4b
|
UTSW |
3 |
144,627,780 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2045:Clca4b
|
UTSW |
3 |
144,630,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Clca4b
|
UTSW |
3 |
144,634,348 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2185:Clca4b
|
UTSW |
3 |
144,634,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Clca4b
|
UTSW |
3 |
144,616,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2300:Clca4b
|
UTSW |
3 |
144,622,432 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2321:Clca4b
|
UTSW |
3 |
144,638,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2359:Clca4b
|
UTSW |
3 |
144,631,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3105:Clca4b
|
UTSW |
3 |
144,622,432 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3151:Clca4b
|
UTSW |
3 |
144,621,272 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3158:Clca4b
|
UTSW |
3 |
144,617,878 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3177:Clca4b
|
UTSW |
3 |
144,617,120 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3277:Clca4b
|
UTSW |
3 |
144,617,120 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3981:Clca4b
|
UTSW |
3 |
144,631,797 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4601:Clca4b
|
UTSW |
3 |
144,632,945 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4646:Clca4b
|
UTSW |
3 |
144,634,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Clca4b
|
UTSW |
3 |
144,634,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4696:Clca4b
|
UTSW |
3 |
144,617,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4998:Clca4b
|
UTSW |
3 |
144,621,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5053:Clca4b
|
UTSW |
3 |
144,616,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5060:Clca4b
|
UTSW |
3 |
144,617,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Clca4b
|
UTSW |
3 |
144,630,940 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5409:Clca4b
|
UTSW |
3 |
144,622,452 (GRCm39) |
nonsense |
probably null |
|
|
R5534:Clca4b
|
UTSW |
3 |
144,621,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Clca4b
|
UTSW |
3 |
144,638,196 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5667:Clca4b
|
UTSW |
3 |
144,627,624 (GRCm39) |
missense |
probably benign |
|
|
R5671:Clca4b
|
UTSW |
3 |
144,627,624 (GRCm39) |
missense |
probably benign |
|
|
R5715:Clca4b
|
UTSW |
3 |
144,619,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5875:Clca4b
|
UTSW |
3 |
144,628,650 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5876:Clca4b
|
UTSW |
3 |
144,617,821 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6122:Clca4b
|
UTSW |
3 |
144,631,927 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6294:Clca4b
|
UTSW |
3 |
144,630,946 (GRCm39) |
missense |
probably null |
|
|
R6408:Clca4b
|
UTSW |
3 |
144,625,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Clca4b
|
UTSW |
3 |
144,633,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6458:Clca4b
|
UTSW |
3 |
144,617,088 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6536:Clca4b
|
UTSW |
3 |
144,622,490 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6567:Clca4b
|
UTSW |
3 |
144,638,100 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6781:Clca4b
|
UTSW |
3 |
144,628,562 (GRCm39) |
missense |
probably benign |
|
|
R6799:Clca4b
|
UTSW |
3 |
144,621,388 (GRCm39) |
splice site |
probably null |
|
|
R7046:Clca4b
|
UTSW |
3 |
144,621,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Clca4b
|
UTSW |
3 |
144,628,529 (GRCm39) |
missense |
not run |
|
|
R7431:Clca4b
|
UTSW |
3 |
144,616,894 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7462:Clca4b
|
UTSW |
3 |
144,628,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7611:Clca4b
|
UTSW |
3 |
144,627,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7806:Clca4b
|
UTSW |
3 |
144,638,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7918:Clca4b
|
UTSW |
3 |
144,619,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7962:Clca4b
|
UTSW |
3 |
144,622,421 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7990:Clca4b
|
UTSW |
3 |
144,634,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8198:Clca4b
|
UTSW |
3 |
144,638,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8327:Clca4b
|
UTSW |
3 |
144,627,762 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8370:Clca4b
|
UTSW |
3 |
144,631,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8434:Clca4b
|
UTSW |
3 |
144,631,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8493:Clca4b
|
UTSW |
3 |
144,617,911 (GRCm39) |
missense |
probably benign |
|
|
R9027:Clca4b
|
UTSW |
3 |
144,617,827 (GRCm39) |
nonsense |
probably null |
|
|
R9211:Clca4b
|
UTSW |
3 |
144,638,214 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9371:Clca4b
|
UTSW |
3 |
144,631,845 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9400:Clca4b
|
UTSW |
3 |
144,616,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9446:Clca4b
|
UTSW |
3 |
144,638,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9474:Clca4b
|
UTSW |
3 |
144,616,927 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9479:Clca4b
|
UTSW |
3 |
144,617,100 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9493:Clca4b
|
UTSW |
3 |
144,632,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9730:Clca4b
|
UTSW |
3 |
144,632,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Clca4b
|
UTSW |
3 |
144,621,272 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTTAGGTAGGTGAAGCTGAGAC -3'
(R):5'- ACACTTTTAGGTGACTGAGTTCTG -3'
Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- CCAATGGAGAAGCACTTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation