Incidental Mutation 'R8493:Clca4b'
| ID |
658105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca4b
|
| Ensembl Gene |
ENSMUSG00000074195 |
| Gene Name |
chloride channel accessory 4B |
| Synonyms |
AI747448 |
| MMRRC Submission |
067935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144616682-144638290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144617911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 731
(N731D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
| AlphaFold |
Q3UW98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
AA Change: N731D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: N731D
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,653,453 (GRCm39) |
M1L |
unknown |
Het |
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Ankrd10 |
C |
A |
8: 11,678,518 (GRCm39) |
E125* |
probably null |
Het |
| Apob |
A |
T |
12: 8,059,009 (GRCm39) |
D2497V |
possibly damaging |
Het |
| Arap1 |
G |
A |
7: 101,035,725 (GRCm39) |
W87* |
probably null |
Het |
| Arhgef37 |
C |
T |
18: 61,640,277 (GRCm39) |
V261I |
probably benign |
Het |
| Arl4a |
A |
C |
12: 40,086,472 (GRCm39) |
C92G |
probably benign |
Het |
| Arrdc2 |
C |
T |
8: 71,289,501 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
A |
C |
1: 87,706,704 (GRCm39) |
T355P |
probably damaging |
Het |
| Card14 |
T |
G |
11: 119,224,435 (GRCm39) |
|
probably null |
Het |
| Cd109 |
G |
A |
9: 78,564,801 (GRCm39) |
V249I |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,873,453 (GRCm39) |
D395G |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,822,207 (GRCm39) |
M1703I |
possibly damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,752 (GRCm39) |
I277T |
probably benign |
Het |
| Chst4 |
A |
G |
8: 110,757,095 (GRCm39) |
V173A |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,278,936 (GRCm39) |
E1122G |
possibly damaging |
Het |
| Csf1r |
C |
G |
18: 61,247,954 (GRCm39) |
P341A |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,297,215 (GRCm39) |
E253G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,343,804 (GRCm39) |
D2829V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,512,067 (GRCm39) |
N2998S |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,235,842 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
A |
T |
1: 185,139,371 (GRCm39) |
K919* |
probably null |
Het |
| Esp16 |
A |
T |
17: 39,850,821 (GRCm39) |
K67* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,259,367 (GRCm39) |
E474D |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,502 (GRCm39) |
R945H |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,869,822 (GRCm38) |
V195E |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,567 (GRCm38) |
I86T |
probably damaging |
Het |
| Gm4744 |
G |
A |
6: 40,926,281 (GRCm39) |
S103F |
|
Het |
| Gvin2 |
A |
G |
7: 105,548,088 (GRCm39) |
S1655P |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,887,292 (GRCm39) |
I713N |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,306,266 (GRCm39) |
I105T |
probably damaging |
Het |
| Isl1 |
G |
T |
13: 116,441,835 (GRCm39) |
H133N |
possibly damaging |
Het |
| Jade1 |
T |
A |
3: 41,559,113 (GRCm39) |
L398Q |
possibly damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,681,003 (GRCm39) |
V195M |
probably benign |
Het |
| Kif3a |
A |
T |
11: 53,489,627 (GRCm39) |
K669* |
probably null |
Het |
| L3mbtl4 |
G |
A |
17: 68,937,239 (GRCm39) |
R420H |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,321 (GRCm39) |
I197N |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,340,929 (GRCm39) |
T263A |
probably damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Naxe |
A |
G |
3: 87,965,757 (GRCm39) |
|
probably benign |
Het |
| Ndufs2 |
T |
C |
1: 171,068,677 (GRCm39) |
T51A |
probably benign |
Het |
| Nlrc5 |
T |
A |
8: 95,249,848 (GRCm39) |
L1824Q |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,251 (GRCm39) |
V27A |
unknown |
Het |
| Nucks1 |
A |
T |
1: 131,857,473 (GRCm39) |
M169L |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,083,215 (GRCm39) |
D311E |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,547,229 (GRCm39) |
S140N |
probably benign |
Het |
| Or4a80 |
T |
A |
2: 89,582,599 (GRCm39) |
Y191F |
probably benign |
Het |
| Or4k45 |
T |
A |
2: 111,395,324 (GRCm39) |
H155L |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,479 (GRCm39) |
S321T |
probably benign |
Het |
| Or52n20 |
G |
T |
7: 104,320,022 (GRCm39) |
V38L |
probably benign |
Het |
| Or5w10 |
T |
A |
2: 87,375,114 (GRCm39) |
Y258F |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,239,457 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
T |
C |
9: 65,254,039 (GRCm39) |
S206P |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,575 (GRCm39) |
Y591* |
probably null |
Het |
| Pgap6 |
G |
T |
17: 26,340,931 (GRCm39) |
R678L |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,647 (GRCm39) |
M771I |
probably benign |
Het |
| Pramel47 |
C |
T |
5: 95,488,092 (GRCm39) |
H9Y |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,031 (GRCm39) |
Y1643C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,717,671 (GRCm39) |
I1906V |
probably benign |
Het |
| Rab33b |
T |
A |
3: 51,391,795 (GRCm39) |
S15T |
probably benign |
Het |
| Rasip1 |
A |
T |
7: 45,284,467 (GRCm39) |
M644L |
possibly damaging |
Het |
| Rnf4 |
G |
A |
5: 34,506,035 (GRCm39) |
C55Y |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,780,735 (GRCm39) |
Y585* |
probably null |
Het |
| Slc40a1 |
A |
T |
1: 45,950,576 (GRCm39) |
F292Y |
probably damaging |
Het |
| Smarca4 |
G |
A |
9: 21,570,144 (GRCm39) |
D716N |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,266,837 (GRCm39) |
H323L |
possibly damaging |
Het |
| Speer1m |
T |
C |
5: 11,971,489 (GRCm39) |
L147P |
probably damaging |
Het |
| Sprtn |
A |
G |
8: 125,629,933 (GRCm39) |
S409G |
probably benign |
Het |
| St3gal2 |
T |
G |
8: 111,688,853 (GRCm39) |
L131R |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,399,552 (GRCm39) |
C91R |
probably damaging |
Het |
| Tgm1 |
A |
T |
14: 55,937,754 (GRCm39) |
V785E |
probably damaging |
Het |
| Topaz1 |
G |
T |
9: 122,579,573 (GRCm39) |
V828L |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ttc27 |
G |
A |
17: 75,050,047 (GRCm39) |
|
probably null |
Het |
| Usp2 |
G |
A |
9: 43,987,350 (GRCm39) |
G216D |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,614,020 (GRCm39) |
D580G |
probably benign |
Het |
| Wbp1l |
G |
A |
19: 46,640,988 (GRCm39) |
R106H |
possibly damaging |
Het |
| Zmym2 |
G |
T |
14: 57,151,606 (GRCm39) |
C497F |
probably 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 |
|
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 |
|
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'- ACAGGGGTTCTTGTTCTTACC -3'
(R):5'- TCTGGAGGATGAATTTTCCCAC -3'
Sequencing Primer
(F):5'- ACCTCTTCCAACATCATAATCATCTC -3'
(R):5'- CTGGAGGATGAATTTTCCCACAAATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation