Incidental Mutation 'R0729:Clca4b'
ID |
67366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4b
|
Ensembl Gene |
ENSMUSG00000074195 |
Gene Name |
chloride channel accessory 4B |
Synonyms |
AI747448 |
MMRRC Submission |
038910-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0729 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
144616682-144638290 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 144634111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
AlphaFold |
Q3UW98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
|
SMART Domains |
Protein: ENSMUSP00000096149 Gene: ENSMUSG00000074195
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: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
97% (74/76) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
A |
11: 72,050,281 (GRCm39) |
A828S |
probably benign |
Het |
Acsm3 |
T |
C |
7: 119,383,207 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
G |
A |
15: 11,255,769 (GRCm39) |
R446H |
possibly damaging |
Het |
Adgrb1 |
A |
G |
15: 74,420,398 (GRCm39) |
N849S |
probably damaging |
Het |
Ankra2 |
A |
G |
13: 98,408,235 (GRCm39) |
D228G |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,414,412 (GRCm39) |
V375A |
probably damaging |
Het |
Blvrb |
A |
G |
7: 27,147,555 (GRCm39) |
K5E |
possibly damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,394,456 (GRCm39) |
N573D |
probably benign |
Het |
Calhm2 |
C |
A |
19: 47,121,356 (GRCm39) |
G271V |
possibly damaging |
Het |
Capn13 |
C |
T |
17: 73,629,064 (GRCm39) |
G581E |
probably damaging |
Het |
Capzb |
T |
C |
4: 139,016,288 (GRCm39) |
|
probably benign |
Het |
Casd1 |
T |
C |
6: 4,619,753 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crx |
A |
G |
7: 15,605,058 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
T |
C |
19: 39,727,994 (GRCm39) |
|
probably benign |
Het |
Dcaf8 |
T |
A |
1: 172,000,221 (GRCm39) |
D126E |
probably benign |
Het |
Ddx31 |
T |
C |
2: 28,764,186 (GRCm39) |
I464T |
probably damaging |
Het |
Dhx32 |
G |
A |
7: 133,339,150 (GRCm39) |
T155I |
probably benign |
Het |
Elac2 |
C |
A |
11: 64,889,349 (GRCm39) |
P567T |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,054,444 (GRCm39) |
|
probably benign |
Het |
Fh1 |
T |
G |
1: 175,442,383 (GRCm39) |
N156H |
probably damaging |
Het |
Gm10064 |
T |
C |
5: 122,835,584 (GRCm39) |
|
noncoding transcript |
Het |
Gm14137 |
A |
G |
2: 119,005,834 (GRCm39) |
E131G |
probably benign |
Het |
Gpr22 |
T |
A |
12: 31,759,312 (GRCm39) |
K233M |
probably damaging |
Het |
Gpr63 |
A |
G |
4: 25,007,480 (GRCm39) |
N68S |
probably benign |
Het |
Gypa |
C |
T |
8: 81,223,421 (GRCm39) |
P66S |
unknown |
Het |
Htr2a |
A |
T |
14: 74,879,587 (GRCm39) |
Q72L |
probably benign |
Het |
Klhdc7b |
C |
T |
15: 89,271,598 (GRCm39) |
R827* |
probably null |
Het |
Leo1 |
G |
A |
9: 75,364,420 (GRCm39) |
R520Q |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,765,757 (GRCm39) |
M429V |
probably benign |
Het |
Lrrc74a |
C |
T |
12: 86,792,353 (GRCm39) |
Q225* |
probably null |
Het |
Mamdc4 |
T |
A |
2: 25,460,048 (GRCm39) |
N68Y |
probably damaging |
Het |
Map3k10 |
G |
A |
7: 27,360,992 (GRCm39) |
P507L |
probably damaging |
Het |
Methig1 |
T |
A |
15: 100,272,870 (GRCm39) |
C68S |
probably benign |
Het |
Metrn |
C |
T |
17: 26,015,202 (GRCm39) |
|
probably benign |
Het |
Mmp12 |
C |
T |
9: 7,358,290 (GRCm39) |
T392I |
possibly damaging |
Het |
Mss51 |
A |
T |
14: 20,533,160 (GRCm39) |
I437N |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,014,097 (GRCm39) |
T297A |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,722,243 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
G |
A |
10: 30,567,575 (GRCm39) |
P319S |
probably benign |
Het |
Nlrp4d |
A |
T |
7: 10,111,612 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,923,535 (GRCm39) |
S6455P |
probably damaging |
Het |
Or5b97 |
T |
C |
19: 12,878,259 (GRCm39) |
N295S |
probably damaging |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Pcdh12 |
A |
G |
18: 38,415,517 (GRCm39) |
I536T |
probably benign |
Het |
Pex5l |
G |
T |
3: 33,008,685 (GRCm39) |
|
probably benign |
Het |
Pla2g2e |
A |
C |
4: 138,608,046 (GRCm39) |
K43Q |
possibly damaging |
Het |
Rasa4 |
T |
C |
5: 136,130,924 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,328,234 (GRCm39) |
R1079W |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,867,411 (GRCm39) |
T803A |
probably benign |
Het |
Shcbp1 |
T |
A |
8: 4,786,297 (GRCm39) |
N602Y |
probably benign |
Het |
Slc16a13 |
G |
A |
11: 70,109,857 (GRCm39) |
P215S |
probably damaging |
Het |
Slc39a6 |
T |
C |
18: 24,734,527 (GRCm39) |
Q54R |
probably benign |
Het |
Smg1 |
C |
A |
7: 117,745,512 (GRCm39) |
|
probably benign |
Het |
Spg7 |
A |
G |
8: 123,797,156 (GRCm39) |
N110D |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,060,902 (GRCm39) |
S2010T |
probably damaging |
Het |
Sun1 |
T |
A |
5: 139,223,619 (GRCm39) |
|
probably benign |
Het |
Sytl5 |
A |
G |
X: 9,860,736 (GRCm39) |
E717G |
probably damaging |
Het |
Tle1 |
A |
T |
4: 72,044,679 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,985,060 (GRCm39) |
S179P |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,965,153 (GRCm39) |
F1549L |
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,212,631 (GRCm39) |
Y5063F |
possibly damaging |
Het |
Uroc1 |
T |
A |
6: 90,313,937 (GRCm39) |
Y75N |
probably damaging |
Het |
Vmn2r70 |
T |
C |
7: 85,215,112 (GRCm39) |
T141A |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,868,931 (GRCm39) |
K3128E |
probably damaging |
Het |
Wdr26 |
T |
C |
1: 181,013,470 (GRCm39) |
|
probably null |
Het |
Wrn |
T |
A |
8: 33,738,946 (GRCm39) |
|
probably null |
Het |
Zfp106 |
C |
T |
2: 120,385,729 (GRCm39) |
V13M |
probably damaging |
Het |
Zfp456 |
G |
A |
13: 67,514,663 (GRCm39) |
H348Y |
probably damaging |
Het |
Zfpm1 |
G |
A |
8: 123,063,398 (GRCm39) |
R819H |
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 |
|
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 |
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'- GCAATGCTTTAGCCAAATTCCCCAC -3'
(R):5'- GGAATGAGCTTGATGCATGGCTCC -3'
Sequencing Primer
(F):5'- CACCTGAATCTCCATATTCAACTTG -3'
(R):5'- AGCTTAACAGGGTTCACCAG -3'
|
Posted On |
2013-09-03 |