Incidental Mutation 'R0570:Clca4b'
ID |
46358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4b
|
Ensembl Gene |
ENSMUSG00000074195 |
Gene Name |
chloride channel accessory 4B |
Synonyms |
AI747448 |
MMRRC Submission |
038761-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0570 (G1)
|
Quality Score |
160 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
144616682-144638290 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144631110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 250
(E250G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
AlphaFold |
Q3UW98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
AA Change: E250G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000096149 Gene: ENSMUSG00000074195 AA Change: E250G
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: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (85/85) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067K01Rik |
C |
A |
8: 84,729,733 (GRCm39) |
|
probably benign |
Het |
Aadacl3 |
C |
T |
4: 144,190,130 (GRCm39) |
W57* |
probably null |
Het |
Abca2 |
G |
T |
2: 25,337,417 (GRCm39) |
|
probably null |
Het |
Abca3 |
A |
G |
17: 24,593,373 (GRCm39) |
I257V |
probably benign |
Het |
Adamts2 |
A |
G |
11: 50,666,963 (GRCm39) |
D420G |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,696,135 (GRCm39) |
F341L |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
Arhgap20 |
T |
C |
9: 51,751,751 (GRCm39) |
S365P |
possibly damaging |
Het |
Atrn |
G |
A |
2: 130,822,054 (GRCm39) |
V916I |
probably benign |
Het |
Blmh |
T |
C |
11: 76,856,651 (GRCm39) |
V82A |
probably damaging |
Het |
C1ra |
A |
T |
6: 124,490,664 (GRCm39) |
Y19F |
probably benign |
Het |
Cactin |
A |
G |
10: 81,159,067 (GRCm39) |
E306G |
probably damaging |
Het |
Celsr1 |
C |
T |
15: 85,787,566 (GRCm39) |
R2724Q |
probably benign |
Het |
Col17a1 |
A |
T |
19: 47,654,317 (GRCm39) |
S647T |
possibly damaging |
Het |
Cope |
T |
A |
8: 70,759,181 (GRCm39) |
D74E |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,403,435 (GRCm39) |
I198T |
probably damaging |
Het |
Elfn2 |
T |
C |
15: 78,557,434 (GRCm39) |
N371S |
probably damaging |
Het |
Elmo2 |
G |
T |
2: 165,146,839 (GRCm39) |
A246D |
probably benign |
Het |
Ewsr1 |
A |
T |
11: 5,035,935 (GRCm39) |
M187K |
possibly damaging |
Het |
Faap100 |
A |
T |
11: 120,265,114 (GRCm39) |
S587R |
possibly damaging |
Het |
Fam234b |
C |
T |
6: 135,186,247 (GRCm39) |
S85L |
probably benign |
Het |
Fanca |
A |
T |
8: 124,033,169 (GRCm39) |
S292R |
probably benign |
Het |
Fanci |
G |
A |
7: 79,093,711 (GRCm39) |
C1021Y |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,245,640 (GRCm39) |
I1230T |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,536,456 (GRCm39) |
L27S |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,502,031 (GRCm39) |
V147A |
probably null |
Het |
Fnbp4 |
A |
G |
2: 90,583,301 (GRCm39) |
Y309C |
probably damaging |
Het |
Foxb1 |
T |
C |
9: 69,666,844 (GRCm39) |
T229A |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,618,552 (GRCm39) |
Y274H |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,165,541 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,730,480 (GRCm39) |
L888Q |
probably damaging |
Het |
Gm17490 |
T |
C |
2: 11,630,460 (GRCm39) |
|
probably benign |
Het |
Gtf2ird2 |
T |
A |
5: 134,237,785 (GRCm39) |
|
probably null |
Het |
H2-Q1 |
A |
G |
17: 35,540,373 (GRCm39) |
T153A |
possibly damaging |
Het |
Ina |
A |
C |
19: 47,011,938 (GRCm39) |
E452A |
probably benign |
Het |
Kars1 |
A |
G |
8: 112,721,494 (GRCm39) |
|
probably null |
Het |
Kif1c |
A |
G |
11: 70,595,291 (GRCm39) |
E124G |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,745,944 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,390,878 (GRCm39) |
C3006* |
probably null |
Het |
Lyst |
T |
C |
13: 13,883,971 (GRCm39) |
L2953P |
probably benign |
Het |
Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
Melk |
T |
C |
4: 44,308,906 (GRCm39) |
Y88H |
probably damaging |
Het |
Myrf |
A |
G |
19: 10,189,161 (GRCm39) |
S857P |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,826,187 (GRCm39) |
I153M |
possibly damaging |
Het |
Or4n4 |
T |
G |
14: 50,519,370 (GRCm39) |
L113F |
probably benign |
Het |
Otof |
A |
G |
5: 30,529,225 (GRCm39) |
|
probably benign |
Het |
Patl2 |
A |
G |
2: 121,955,789 (GRCm39) |
V249A |
probably damaging |
Het |
Pcgf5 |
A |
G |
19: 36,389,580 (GRCm39) |
Y19C |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,247,941 (GRCm39) |
V951E |
probably damaging |
Het |
Pcolce2 |
T |
C |
9: 95,520,710 (GRCm39) |
V29A |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,210,775 (GRCm39) |
M761L |
probably benign |
Het |
Pi16 |
A |
T |
17: 29,538,189 (GRCm39) |
M1L |
possibly damaging |
Het |
Pkd2 |
T |
A |
5: 104,603,471 (GRCm39) |
|
probably benign |
Het |
Plcb2 |
A |
G |
2: 118,547,806 (GRCm39) |
W474R |
probably benign |
Het |
Psapl1 |
A |
G |
5: 36,361,624 (GRCm39) |
D72G |
possibly damaging |
Het |
Ptpn5 |
T |
A |
7: 46,728,681 (GRCm39) |
|
probably benign |
Het |
Ptprg |
A |
G |
14: 12,215,896 (GRCm38) |
E1115G |
probably damaging |
Het |
Rassf1 |
C |
T |
9: 107,435,165 (GRCm39) |
T224I |
probably damaging |
Het |
Rbpms2 |
T |
A |
9: 65,566,476 (GRCm39) |
C168* |
probably null |
Het |
Rhag |
A |
G |
17: 41,139,804 (GRCm39) |
|
probably benign |
Het |
Rhebl1 |
C |
T |
15: 98,779,034 (GRCm39) |
V17I |
probably benign |
Het |
Rnf130 |
A |
T |
11: 49,986,703 (GRCm39) |
D349V |
possibly damaging |
Het |
Rprd1a |
A |
G |
18: 24,642,952 (GRCm39) |
L60P |
probably damaging |
Het |
Rspry1 |
T |
C |
8: 95,356,420 (GRCm39) |
I25T |
probably damaging |
Het |
Ruvbl2 |
C |
T |
7: 45,071,621 (GRCm39) |
V421M |
probably damaging |
Het |
Sap30 |
T |
C |
8: 57,936,000 (GRCm39) |
N209D |
possibly damaging |
Het |
Sfswap |
T |
C |
5: 129,581,042 (GRCm39) |
|
probably benign |
Het |
Slc1a2 |
G |
A |
2: 102,586,352 (GRCm39) |
V319M |
probably damaging |
Het |
Smad2 |
T |
C |
18: 76,422,250 (GRCm39) |
|
probably benign |
Het |
Spdya |
T |
C |
17: 71,869,585 (GRCm39) |
|
probably null |
Het |
Stk39 |
G |
A |
2: 68,240,392 (GRCm39) |
T113M |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,626,382 (GRCm39) |
|
probably benign |
Het |
Tas2r122 |
T |
C |
6: 132,688,774 (GRCm39) |
K40E |
probably damaging |
Het |
Tph2 |
G |
T |
10: 115,010,039 (GRCm39) |
|
probably benign |
Het |
Trip12 |
G |
A |
1: 84,729,269 (GRCm39) |
S1083F |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,845,701 (GRCm39) |
C206S |
probably damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,760,681 (GRCm39) |
Q34R |
possibly damaging |
Het |
Uroc1 |
G |
T |
6: 90,315,546 (GRCm39) |
M142I |
possibly damaging |
Het |
Uso1 |
T |
C |
5: 92,347,682 (GRCm39) |
S766P |
probably benign |
Het |
Usp21 |
G |
A |
1: 171,111,319 (GRCm39) |
|
probably benign |
Het |
Usp48 |
T |
A |
4: 137,360,437 (GRCm39) |
I658K |
possibly damaging |
Het |
Vmn1r206 |
T |
C |
13: 22,804,583 (GRCm39) |
H208R |
probably damaging |
Het |
Vmn2r109 |
C |
T |
17: 20,760,937 (GRCm39) |
A807T |
probably damaging |
Het |
Zfp329 |
A |
T |
7: 12,544,379 (GRCm39) |
C382S |
probably damaging |
Het |
Zfp341 |
A |
G |
2: 154,487,988 (GRCm39) |
E817G |
probably benign |
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 |
|
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 |
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'- GGCACACAATTCTCTCACTGATCCTCA -3'
(R):5'- AGATAGCCTCCTTCAGACCACTCCT -3'
Sequencing Primer
(F):5'- CTCACTGATCCTCAGCAGG -3'
(R):5'- TTCAGACCACTCCTGAGCC -3'
|
Posted On |
2013-06-11 |