Incidental Mutation 'R9474:Clca4b'
ID |
715617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4b
|
Ensembl Gene |
ENSMUSG00000074195 |
Gene Name |
chloride channel accessory 4B |
Synonyms |
AI747448 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R9474 (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 A
at 144616927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 908
(T908S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
AlphaFold |
Q3UW98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
AA Change: T908S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000096149 Gene: ENSMUSG00000074195 AA Change: T908S
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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
C |
A |
10: 78,903,565 (GRCm39) |
K250N |
probably damaging |
Het |
Adam5 |
A |
T |
8: 25,237,540 (GRCm39) |
D623E |
possibly damaging |
Het |
Akt3 |
T |
C |
1: 176,852,952 (GRCm39) |
Y473C |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,805,617 (GRCm39) |
Y217H |
probably damaging |
Het |
Clec7a |
G |
A |
6: 129,440,126 (GRCm39) |
Q160* |
probably null |
Het |
Cntnap4 |
T |
A |
8: 113,460,103 (GRCm39) |
I152N |
probably damaging |
Het |
Ctdspl |
C |
T |
9: 118,866,445 (GRCm39) |
A179V |
probably damaging |
Het |
Ddx43 |
T |
C |
9: 78,313,668 (GRCm39) |
S200P |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,544,963 (GRCm39) |
D84G |
unknown |
Het |
Dmbt1 |
G |
A |
7: 130,675,987 (GRCm39) |
R625H |
unknown |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
E2f7 |
C |
T |
10: 110,603,050 (GRCm39) |
T355I |
probably damaging |
Het |
E2f7 |
C |
A |
10: 110,614,918 (GRCm39) |
L541M |
probably damaging |
Het |
Elovl5 |
T |
A |
9: 77,890,007 (GRCm39) |
S273T |
possibly damaging |
Het |
Emc1 |
T |
A |
4: 139,093,705 (GRCm39) |
L605Q |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,887,124 (GRCm39) |
D2635E |
probably benign |
Het |
Gabrb1 |
G |
A |
5: 72,265,690 (GRCm39) |
G195E |
probably damaging |
Het |
Galm |
A |
G |
17: 80,457,561 (GRCm39) |
D199G |
possibly damaging |
Het |
Galntl6 |
T |
G |
8: 58,230,359 (GRCm39) |
S20R |
probably damaging |
Het |
Grb14 |
T |
G |
2: 64,768,744 (GRCm39) |
Y189S |
probably damaging |
Het |
Hk2 |
T |
A |
6: 82,705,895 (GRCm39) |
I803F |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,506,471 (GRCm39) |
R3779W |
probably damaging |
Het |
Hmgcr |
A |
C |
13: 96,796,403 (GRCm39) |
M260R |
probably damaging |
Het |
Hsbp1l1 |
T |
A |
18: 80,276,639 (GRCm39) |
K68N |
possibly damaging |
Het |
Inhba |
A |
C |
13: 16,192,263 (GRCm39) |
E128A |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Klhl3 |
G |
A |
13: 58,167,273 (GRCm39) |
P364S |
probably damaging |
Het |
Lhpp |
T |
C |
7: 132,243,312 (GRCm39) |
L176P |
probably damaging |
Het |
Lrp1b |
C |
A |
2: 40,491,599 (GRCm39) |
A223S |
probably damaging |
Het |
Lrp3 |
A |
G |
7: 34,903,489 (GRCm39) |
F286L |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,841,028 (GRCm39) |
T1337A |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,400,019 (GRCm39) |
D17G |
probably benign |
Het |
Map3k21 |
T |
C |
8: 126,650,903 (GRCm39) |
S302P |
probably damaging |
Het |
Matcap2 |
T |
C |
9: 22,343,015 (GRCm39) |
M303T |
probably damaging |
Het |
Mbtd1 |
A |
G |
11: 93,816,511 (GRCm39) |
D386G |
probably benign |
Het |
Mfsd2b |
A |
T |
12: 4,916,820 (GRCm39) |
D306E |
possibly damaging |
Het |
Muc20 |
T |
C |
16: 32,614,453 (GRCm39) |
E308G |
probably damaging |
Het |
Myh13 |
G |
A |
11: 67,255,712 (GRCm39) |
S34N |
|
Het |
Nebl |
C |
A |
2: 17,374,421 (GRCm39) |
G894* |
probably null |
Het |
Nelfa |
A |
G |
5: 34,056,095 (GRCm39) |
Y523H |
probably damaging |
Het |
Ninj1 |
A |
G |
13: 49,341,076 (GRCm39) |
D13G |
probably benign |
Het |
Ninl |
A |
T |
2: 150,782,726 (GRCm39) |
S170T |
probably benign |
Het |
Nlrp4c |
G |
A |
7: 6,068,626 (GRCm39) |
V176M |
possibly damaging |
Het |
Nobox |
G |
A |
6: 43,284,115 (GRCm39) |
R144C |
probably damaging |
Het |
Oas1a |
G |
A |
5: 121,037,317 (GRCm39) |
L237F |
probably damaging |
Het |
Or4a81 |
A |
C |
2: 89,619,506 (GRCm39) |
Y63* |
probably null |
Het |
Or52z15 |
A |
T |
7: 103,332,477 (GRCm39) |
Y184F |
probably damaging |
Het |
Or5w20 |
T |
C |
2: 87,726,693 (GRCm39) |
M50T |
probably benign |
Het |
Or6z1 |
A |
G |
7: 6,505,150 (GRCm39) |
L25P |
probably benign |
Het |
Or7c70 |
T |
C |
10: 78,682,891 (GRCm39) |
N286S |
probably damaging |
Het |
Or8h9 |
A |
G |
2: 86,789,757 (GRCm39) |
M15T |
probably benign |
Het |
Orai1 |
A |
G |
5: 123,167,301 (GRCm39) |
N158S |
probably damaging |
Het |
Pa2g4 |
C |
A |
10: 128,398,967 (GRCm39) |
V121L |
probably benign |
Het |
Pclo |
T |
C |
5: 14,571,250 (GRCm39) |
S212P |
possibly damaging |
Het |
Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
Plg |
A |
G |
17: 12,622,024 (GRCm39) |
Y448C |
probably damaging |
Het |
Plppr4 |
A |
T |
3: 117,116,866 (GRCm39) |
N330K |
probably damaging |
Het |
Pou2f2 |
A |
G |
7: 24,794,247 (GRCm39) |
L373S |
probably benign |
Het |
Rnpep |
A |
G |
1: 135,211,341 (GRCm39) |
F136L |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,162,838 (GRCm39) |
|
probably null |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Slc5a4a |
GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC |
GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC |
10: 75,986,238 (GRCm39) |
|
probably benign |
Het |
Slc5a5 |
T |
C |
8: 71,337,596 (GRCm39) |
D574G |
probably benign |
Het |
Slc7a15 |
T |
A |
12: 8,588,794 (GRCm39) |
N251I |
probably damaging |
Het |
Speer4a3 |
A |
T |
5: 26,158,136 (GRCm39) |
I72N |
probably damaging |
Het |
Susd4 |
T |
C |
1: 182,719,665 (GRCm39) |
S427P |
probably benign |
Het |
Tarbp1 |
T |
A |
8: 127,155,779 (GRCm39) |
T1320S |
probably benign |
Het |
Tbpl2 |
C |
T |
2: 23,984,650 (GRCm39) |
V166I |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,950,518 (GRCm39) |
|
probably null |
Het |
Tnfsf13b |
A |
G |
8: 10,081,648 (GRCm39) |
Y270C |
probably damaging |
Het |
Vps11 |
G |
T |
9: 44,260,290 (GRCm39) |
C857* |
probably null |
Het |
Vsig10 |
G |
A |
5: 117,463,104 (GRCm39) |
R110H |
probably benign |
Het |
Wee2 |
T |
A |
6: 40,432,044 (GRCm39) |
Y204* |
probably null |
Het |
Zfpm2 |
T |
A |
15: 40,966,867 (GRCm39) |
S1117R |
probably damaging |
Het |
Zscan5b |
A |
G |
7: 6,234,472 (GRCm39) |
N166S |
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 |
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 |
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'- TTTCAGAAAACTTCCGCAACAG -3'
(R):5'- ATTGCCATTGAAAGTGTCGAC -3'
Sequencing Primer
(F):5'- AATATTGGTAGTTTCTCATGGAATGG -3'
(R):5'- TGCCATTGAAAGTGTCGACAAAAAC -3'
|
Posted On |
2022-06-15 |