Incidental Mutation 'R4998:Clca4b'
ID |
389620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4b
|
Ensembl Gene |
ENSMUSG00000074195 |
Gene Name |
chloride channel accessory 4B |
Synonyms |
AI747448 |
MMRRC Submission |
042592-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R4998 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
144616682-144638290 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 144621269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 602
(V602I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
AlphaFold |
Q3UW98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
AA Change: V602I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000096149 Gene: ENSMUSG00000074195 AA Change: V602I
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
97% (91/94) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
C |
7: 27,271,088 (GRCm39) |
V135A |
probably damaging |
Het |
Ankrd42 |
T |
C |
7: 92,273,282 (GRCm39) |
N115S |
possibly damaging |
Het |
Baz1a |
T |
C |
12: 55,021,922 (GRCm39) |
E120G |
probably damaging |
Het |
Calcrl |
A |
T |
2: 84,169,658 (GRCm39) |
V341E |
probably damaging |
Het |
Card6 |
T |
C |
15: 5,129,564 (GRCm39) |
R611G |
probably benign |
Het |
Cd70 |
A |
T |
17: 57,453,311 (GRCm39) |
S118T |
probably damaging |
Het |
Chil5 |
T |
A |
3: 105,927,248 (GRCm39) |
I188F |
probably damaging |
Het |
Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
Col6a4 |
A |
G |
9: 105,867,977 (GRCm39) |
|
probably benign |
Het |
Cox8b |
T |
C |
7: 140,479,001 (GRCm39) |
E38G |
probably damaging |
Het |
Cx3cl1 |
C |
G |
8: 95,507,053 (GRCm39) |
L353V |
probably damaging |
Het |
Cyp2a4 |
G |
T |
7: 26,006,786 (GRCm39) |
Q48H |
probably damaging |
Het |
Defb8 |
T |
C |
8: 19,497,603 (GRCm39) |
I3V |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,155,390 (GRCm39) |
L65* |
probably null |
Het |
Dnaaf4 |
A |
G |
9: 72,867,960 (GRCm39) |
T74A |
possibly damaging |
Het |
Dsg2 |
A |
T |
18: 20,734,578 (GRCm39) |
D852V |
probably benign |
Het |
Edar |
T |
C |
10: 58,441,915 (GRCm39) |
R326G |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,831,493 (GRCm39) |
E554G |
possibly damaging |
Het |
Eif2b3 |
A |
C |
4: 116,923,589 (GRCm39) |
K268T |
probably benign |
Het |
Enox1 |
A |
T |
14: 77,738,875 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
C |
A |
10: 24,683,436 (GRCm39) |
M260I |
probably benign |
Het |
Espn |
A |
T |
4: 152,220,040 (GRCm39) |
M361K |
possibly damaging |
Het |
Fam107a |
T |
C |
14: 8,299,514 (GRCm38) |
N108S |
possibly damaging |
Het |
Fbn2 |
A |
T |
18: 58,205,703 (GRCm39) |
V1125D |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,166,507 (GRCm39) |
S410T |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fcsk |
G |
A |
8: 111,614,435 (GRCm39) |
A618V |
probably damaging |
Het |
Gm10715 |
T |
G |
9: 3,038,073 (GRCm39) |
|
probably benign |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm17416 |
C |
A |
2: 152,411,427 (GRCm39) |
P57Q |
probably damaging |
Het |
Gm27013 |
A |
T |
6: 130,653,501 (GRCm39) |
C654S |
probably damaging |
Het |
Gon4l |
G |
T |
3: 88,807,305 (GRCm39) |
E1666D |
probably damaging |
Het |
Gypa |
T |
A |
8: 81,222,964 (GRCm39) |
S23T |
unknown |
Het |
Gys1 |
C |
A |
7: 45,100,968 (GRCm39) |
|
probably benign |
Het |
Hdac10 |
T |
A |
15: 89,008,143 (GRCm39) |
Q569L |
possibly damaging |
Het |
Icos |
A |
G |
1: 61,032,941 (GRCm39) |
T47A |
possibly damaging |
Het |
Igfn1 |
T |
A |
1: 135,882,404 (GRCm39) |
I2814F |
probably damaging |
Het |
Kif27 |
A |
G |
13: 58,440,957 (GRCm39) |
S1153P |
probably damaging |
Het |
Lin28a |
A |
C |
4: 133,746,028 (GRCm39) |
F9V |
possibly damaging |
Het |
Lrriq3 |
T |
A |
3: 154,893,695 (GRCm39) |
N465K |
probably benign |
Het |
Lsm14a |
T |
C |
7: 34,074,799 (GRCm39) |
E47G |
probably damaging |
Het |
Mmel1 |
A |
G |
4: 154,969,967 (GRCm39) |
K177R |
probably benign |
Het |
Ncstn |
T |
A |
1: 171,899,087 (GRCm39) |
N348I |
possibly damaging |
Het |
Ninl |
A |
G |
2: 150,795,284 (GRCm39) |
I619T |
probably damaging |
Het |
Npb |
T |
C |
11: 120,499,401 (GRCm39) |
Y23H |
probably damaging |
Het |
Npepps |
A |
G |
11: 97,096,933 (GRCm39) |
|
probably benign |
Het |
Or8k30 |
T |
C |
2: 86,339,699 (GRCm39) |
Y299H |
probably benign |
Het |
Otop1 |
G |
A |
5: 38,451,892 (GRCm39) |
|
probably null |
Het |
Pcdha1 |
T |
C |
18: 37,065,469 (GRCm39) |
L711P |
probably damaging |
Het |
Pcyt1a |
A |
G |
16: 32,270,660 (GRCm39) |
|
probably benign |
Het |
Pdpr |
G |
T |
8: 111,841,400 (GRCm39) |
V211F |
probably damaging |
Het |
Pip4k2b |
T |
C |
11: 97,613,261 (GRCm39) |
N245S |
possibly damaging |
Het |
Platr26 |
G |
A |
2: 71,561,214 (GRCm39) |
|
noncoding transcript |
Het |
Plek |
A |
G |
11: 16,933,194 (GRCm39) |
|
probably null |
Het |
Potefam3c |
G |
C |
8: 69,906,010 (GRCm39) |
N13K |
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,595,689 (GRCm39) |
D1046E |
probably damaging |
Het |
Prr29 |
T |
G |
11: 106,267,779 (GRCm39) |
C175G |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,504,196 (GRCm39) |
V1097A |
probably damaging |
Het |
Ramp2 |
T |
A |
11: 101,138,247 (GRCm39) |
|
probably benign |
Het |
Rap1gap |
A |
G |
4: 137,455,595 (GRCm39) |
D381G |
possibly damaging |
Het |
Rbbp6 |
T |
A |
7: 122,589,549 (GRCm39) |
D412E |
probably benign |
Het |
Rgs4 |
C |
T |
1: 169,572,802 (GRCm39) |
V45I |
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,658,781 (GRCm39) |
R3614Q |
probably damaging |
Het |
Shc3 |
G |
A |
13: 51,596,856 (GRCm39) |
|
probably null |
Het |
Shmt2 |
A |
T |
10: 127,354,139 (GRCm39) |
C412S |
probably damaging |
Het |
Slc25a45 |
A |
T |
19: 5,934,945 (GRCm39) |
N265Y |
probably damaging |
Het |
Slc4a10 |
G |
C |
2: 62,074,783 (GRCm39) |
E316Q |
probably benign |
Het |
Slc5a8 |
T |
C |
10: 88,743,919 (GRCm39) |
|
probably null |
Het |
Snx31 |
A |
G |
15: 36,539,513 (GRCm39) |
V121A |
probably damaging |
Het |
Socs3 |
T |
C |
11: 117,858,542 (GRCm39) |
E172G |
probably damaging |
Het |
Tg |
A |
G |
15: 66,545,899 (GRCm39) |
D207G |
probably damaging |
Het |
Them4 |
G |
T |
3: 94,237,088 (GRCm39) |
V183F |
probably damaging |
Het |
Tkt |
G |
A |
14: 30,287,499 (GRCm39) |
W136* |
probably null |
Het |
Tlcd3b |
C |
T |
7: 126,426,795 (GRCm39) |
R73C |
probably damaging |
Het |
Tmc3 |
C |
A |
7: 83,271,529 (GRCm39) |
R894S |
probably benign |
Het |
Tmem132a |
G |
T |
19: 10,836,305 (GRCm39) |
P742T |
probably benign |
Het |
Tmem202 |
A |
G |
9: 59,432,129 (GRCm39) |
L66P |
probably damaging |
Het |
Trbc1 |
G |
A |
6: 41,516,270 (GRCm39) |
|
probably benign |
Het |
Trhr2 |
A |
G |
8: 123,085,511 (GRCm39) |
F158L |
probably benign |
Het |
Ttc13 |
A |
T |
8: 125,406,795 (GRCm39) |
N595K |
probably damaging |
Het |
Ucp1 |
A |
G |
8: 84,024,484 (GRCm39) |
|
probably null |
Het |
Zbtb4 |
C |
T |
11: 69,669,497 (GRCm39) |
T740I |
probably benign |
Het |
Zfp69 |
A |
T |
4: 120,804,522 (GRCm39) |
D116E |
possibly damaging |
Het |
Zfp879 |
A |
G |
11: 50,728,796 (GRCm39) |
L66S |
probably damaging |
Het |
Zfp955b |
T |
A |
17: 33,524,125 (GRCm39) |
|
probably benign |
Het |
Zfyve1 |
T |
C |
12: 83,594,839 (GRCm39) |
I718V |
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 |
R4893:Clca4b
|
UTSW |
3 |
144,630,934 (GRCm39) |
missense |
possibly damaging |
0.67 |
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'- AAAAGTCTGTGGGTTACCTGCAC -3'
(R):5'- TCTAAGAACACTCCACCCAATTTTG -3'
Sequencing Primer
(F):5'- GGGTTACCTGCACCGTTGTC -3'
(R):5'- GAACACTCCACCCAATTTTGTTTTTG -3'
|
Posted On |
2016-06-06 |