Incidental Mutation 'R0266:Clca4b'
ID |
34908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4b
|
Ensembl Gene |
ENSMUSG00000074195 |
Gene Name |
chloride channel accessory 4B |
Synonyms |
AI747448 |
MMRRC Submission |
038492-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0266 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
144616682-144638290 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144628547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 387
(I387V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
AlphaFold |
Q3UW98 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098549
AA Change: I387V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096149 Gene: ENSMUSG00000074195 AA Change: I387V
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 |
0.1299 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.8%
|
Validation Efficiency |
100% (79/79) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
A |
G |
12: 110,635,188 (GRCm39) |
S117P |
possibly damaging |
Het |
Aars2 |
T |
C |
17: 45,818,436 (GRCm39) |
|
probably benign |
Het |
Acot11 |
T |
C |
4: 106,607,185 (GRCm39) |
D466G |
probably damaging |
Het |
Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
Apbb2 |
A |
T |
5: 66,459,954 (GRCm39) |
N714K |
probably benign |
Het |
Aqp12 |
C |
A |
1: 92,934,572 (GRCm39) |
H150N |
possibly damaging |
Het |
Brinp3 |
T |
A |
1: 146,558,418 (GRCm39) |
L114* |
probably null |
Het |
Ccng2 |
T |
C |
5: 93,419,148 (GRCm39) |
|
probably benign |
Het |
Cd36 |
T |
A |
5: 18,003,250 (GRCm39) |
R265S |
probably benign |
Het |
Ces4a |
T |
C |
8: 105,868,598 (GRCm39) |
L104S |
probably benign |
Het |
Cul7 |
T |
A |
17: 46,965,521 (GRCm39) |
H566Q |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,486,527 (GRCm39) |
H1646L |
possibly damaging |
Het |
Dntt |
T |
C |
19: 41,047,566 (GRCm39) |
I503T |
probably damaging |
Het |
Dynlt1a |
T |
G |
17: 6,367,670 (GRCm39) |
E2D |
probably benign |
Het |
Efemp2 |
G |
T |
19: 5,528,027 (GRCm39) |
C78F |
probably damaging |
Het |
Esco1 |
T |
C |
18: 10,594,605 (GRCm39) |
E227G |
probably benign |
Het |
Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
Gm17541 |
A |
T |
12: 4,739,487 (GRCm39) |
|
probably benign |
Het |
Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
Gm4782 |
T |
G |
6: 50,587,674 (GRCm39) |
S686R |
probably damaging |
Het |
Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
Grm8 |
T |
C |
6: 27,285,895 (GRCm39) |
Y839C |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
Hes6 |
A |
T |
1: 91,340,026 (GRCm39) |
D143E |
possibly damaging |
Het |
Hmcn2 |
A |
G |
2: 31,284,839 (GRCm39) |
E2055G |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,335,365 (GRCm39) |
|
probably benign |
Het |
Ikzf3 |
A |
G |
11: 98,358,143 (GRCm39) |
L398P |
probably benign |
Het |
Il10ra |
A |
T |
9: 45,176,950 (GRCm39) |
I125N |
probably benign |
Het |
Kcnb2 |
G |
A |
1: 15,783,137 (GRCm39) |
|
probably benign |
Het |
Krt77 |
T |
C |
15: 101,777,813 (GRCm39) |
R81G |
possibly damaging |
Het |
Lrrc40 |
T |
A |
3: 157,747,298 (GRCm39) |
|
probably null |
Het |
Man1a2 |
C |
T |
3: 100,489,350 (GRCm39) |
R543Q |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
Mettl14 |
A |
T |
3: 123,176,475 (GRCm39) |
S58T |
probably benign |
Het |
Mrpl4 |
T |
C |
9: 20,914,610 (GRCm39) |
V62A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,984,498 (GRCm39) |
D1085G |
possibly damaging |
Het |
Myo5c |
C |
A |
9: 75,191,498 (GRCm39) |
|
probably benign |
Het |
Naalad2 |
G |
T |
9: 18,262,239 (GRCm39) |
|
probably benign |
Het |
Nat3 |
A |
G |
8: 68,000,432 (GRCm39) |
T104A |
probably benign |
Het |
Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
Olfm1 |
A |
G |
2: 28,119,619 (GRCm39) |
Y403C |
probably damaging |
Het |
Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
Or7e177 |
A |
T |
9: 20,212,454 (GRCm39) |
R320S |
probably benign |
Het |
Osbpl1a |
T |
A |
18: 13,004,220 (GRCm39) |
|
probably null |
Het |
Pax7 |
G |
A |
4: 139,507,047 (GRCm39) |
S330L |
possibly damaging |
Het |
Pcdhb15 |
C |
A |
18: 37,608,329 (GRCm39) |
D520E |
probably damaging |
Het |
Pgm3 |
T |
C |
9: 86,449,586 (GRCm39) |
T145A |
probably benign |
Het |
Phox2b |
G |
A |
5: 67,253,968 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
A |
T |
11: 68,417,234 (GRCm39) |
R59* |
probably null |
Het |
Pold1 |
A |
G |
7: 44,190,449 (GRCm39) |
|
probably benign |
Het |
Ppp1r21 |
T |
C |
17: 88,876,500 (GRCm39) |
|
probably benign |
Het |
Prl5a1 |
A |
G |
13: 28,333,970 (GRCm39) |
K158E |
possibly damaging |
Het |
Rag2 |
T |
G |
2: 101,460,948 (GRCm39) |
C419W |
probably damaging |
Het |
Reln |
A |
G |
5: 22,193,774 (GRCm39) |
S1395P |
probably damaging |
Het |
Retnlb |
T |
G |
16: 48,639,022 (GRCm39) |
Y74* |
probably null |
Het |
Robo3 |
A |
G |
9: 37,333,936 (GRCm39) |
S633P |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
Slc6a5 |
C |
A |
7: 49,588,156 (GRCm39) |
|
probably benign |
Het |
Sort1 |
T |
A |
3: 108,252,247 (GRCm39) |
N481K |
probably benign |
Het |
Sptlc3 |
T |
A |
2: 139,437,957 (GRCm39) |
I417K |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,099,063 (GRCm39) |
|
probably benign |
Het |
Taf4b |
T |
C |
18: 14,946,134 (GRCm39) |
|
probably benign |
Het |
Tchp |
T |
C |
5: 114,847,394 (GRCm39) |
M71T |
possibly damaging |
Het |
Thsd4 |
T |
A |
9: 59,904,417 (GRCm39) |
H233L |
probably benign |
Het |
Tmem217 |
G |
T |
17: 29,745,573 (GRCm39) |
N52K |
possibly damaging |
Het |
Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
Uqcrfs1 |
A |
C |
13: 30,725,146 (GRCm39) |
N131K |
probably benign |
Het |
Vars1 |
T |
A |
17: 35,232,845 (GRCm39) |
S896R |
probably benign |
Het |
Vmn1r170 |
A |
T |
7: 23,305,906 (GRCm39) |
M103L |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,359,103 (GRCm39) |
I8N |
possibly damaging |
Het |
Zfp648 |
T |
A |
1: 154,080,632 (GRCm39) |
Y264N |
probably damaging |
Het |
Zmym1 |
A |
C |
4: 126,941,818 (GRCm39) |
F857V |
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 |
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 |
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'- GGCAATGGAGTCGCAATTAGGAATCTC -3'
(R):5'- CCGTCTGAATAGAATGAACCAAGCAGC -3'
Sequencing Primer
(F):5'- tccctgtgccttgatttcc -3'
(R):5'- GCAGCAAAATACTTTCTAAGCCAG -3'
|
Posted On |
2013-05-09 |