Incidental Mutation 'R7611:Clca4b'
| ID |
588585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca4b
|
| Ensembl Gene |
ENSMUSG00000074195 |
| Gene Name |
chloride channel accessory 4B |
| Synonyms |
AI747448 |
| MMRRC Submission |
045715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7611 (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 144627757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 405
(T405S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
| AlphaFold |
Q3UW98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
AA Change: T405S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: T405S
| 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: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,792,882 (GRCm39) |
G25S |
probably benign |
Het |
| Ahnak2 |
G |
T |
12: 112,751,749 (GRCm39) |
D35E |
|
Het |
| Birc6 |
T |
C |
17: 74,969,713 (GRCm39) |
M4261T |
probably damaging |
Het |
| Caln1 |
T |
G |
5: 130,534,918 (GRCm39) |
F45V |
probably damaging |
Het |
| Camta2 |
A |
T |
11: 70,572,372 (GRCm39) |
I313N |
possibly damaging |
Het |
| Capns1 |
T |
A |
7: 29,889,539 (GRCm39) |
E220V |
probably damaging |
Het |
| Carmil1 |
C |
A |
13: 24,197,315 (GRCm39) |
V1374L |
probably benign |
Het |
| Casp2 |
T |
G |
6: 42,250,972 (GRCm39) |
L290R |
possibly damaging |
Het |
| Cdkn2b |
C |
A |
4: 89,228,980 (GRCm39) |
V19L |
probably benign |
Het |
| Ces1c |
T |
C |
8: 93,851,139 (GRCm39) |
N162D |
probably benign |
Het |
| Cfap96 |
A |
G |
8: 46,423,488 (GRCm39) |
Y75H |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,763,017 (GRCm39) |
S2281P |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,285,999 (GRCm39) |
D321G |
probably damaging |
Het |
| Ckap2l |
G |
T |
2: 129,127,600 (GRCm39) |
P193T |
possibly damaging |
Het |
| Cmah |
T |
C |
13: 24,619,630 (GRCm39) |
V265A |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,191 (GRCm39) |
M396K |
probably benign |
Het |
| Ddr2 |
A |
T |
1: 169,825,727 (GRCm39) |
M291K |
possibly damaging |
Het |
| Ddx43 |
T |
A |
9: 78,309,635 (GRCm39) |
I145N |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,388,212 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
A |
T |
8: 26,048,221 (GRCm39) |
K106* |
probably null |
Het |
| Gpr6 |
A |
G |
10: 40,946,875 (GRCm39) |
F236L |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,143,511 (GRCm39) |
S750P |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,952,459 (GRCm39) |
S925P |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Hmg20b |
T |
A |
10: 81,185,432 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
T |
A |
12: 98,484,899 (GRCm39) |
Y79F |
probably damaging |
Het |
| Lrrc30 |
A |
T |
17: 67,939,424 (GRCm39) |
F52Y |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,036,432 (GRCm39) |
K907R |
possibly damaging |
Het |
| Mbd3 |
T |
C |
10: 80,231,352 (GRCm39) |
D63G |
probably damaging |
Het |
| Mettl21a |
C |
T |
1: 64,654,266 (GRCm39) |
A84T |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,634,857 (GRCm39) |
D491G |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,852,387 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,101,243 (GRCm39) |
H673L |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,239,276 (GRCm39) |
|
probably null |
Het |
| Nme9 |
T |
A |
9: 99,352,843 (GRCm39) |
S264R |
probably benign |
Het |
| Nup153 |
T |
C |
13: 46,840,798 (GRCm39) |
T937A |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,482,024 (GRCm39) |
E282G |
probably damaging |
Het |
| Or1o3 |
A |
G |
17: 37,573,745 (GRCm39) |
V270A |
probably benign |
Het |
| Or2w2 |
A |
G |
13: 21,758,488 (GRCm39) |
V46A |
probably benign |
Het |
| Or4l15 |
C |
A |
14: 50,198,368 (GRCm39) |
A54S |
probably benign |
Het |
| Or5an10 |
T |
A |
19: 12,276,242 (GRCm39) |
M85L |
probably damaging |
Het |
| Or5b99 |
T |
A |
19: 12,976,431 (GRCm39) |
I27N |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,407 (GRCm39) |
C74* |
probably null |
Het |
| Or8k30 |
T |
A |
2: 86,339,397 (GRCm39) |
I198K |
possibly damaging |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,478 (GRCm39) |
F770S |
possibly damaging |
Het |
| Pfkp |
T |
A |
13: 6,655,119 (GRCm39) |
|
probably null |
Het |
| Prr29 |
C |
G |
11: 106,267,158 (GRCm39) |
H58D |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,001,219 (GRCm39) |
M1103K |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,225,651 (GRCm39) |
E250G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,473 (GRCm39) |
P108S |
probably benign |
Het |
| Setd1b |
A |
C |
5: 123,290,657 (GRCm39) |
M875L |
unknown |
Het |
| Slc15a2 |
A |
G |
16: 36,576,673 (GRCm39) |
S485P |
probably benign |
Het |
| Smoc1 |
A |
G |
12: 81,226,444 (GRCm39) |
D423G |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,676,198 (GRCm39) |
V337D |
probably damaging |
Het |
| Spesp1 |
T |
C |
9: 62,179,987 (GRCm39) |
K307R |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,906,467 (GRCm39) |
E503G |
probably benign |
Het |
| Susd6 |
T |
C |
12: 80,921,341 (GRCm39) |
Y313H |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,238,865 (GRCm39) |
D224V |
possibly damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,717,049 (GRCm39) |
T575S |
probably benign |
Het |
| Usp21 |
A |
T |
1: 171,113,142 (GRCm39) |
H211Q |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,322 (GRCm39) |
S172G |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,944 (GRCm39) |
S516G |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,255 (GRCm39) |
R648S |
probably benign |
Het |
| Vmn2r6 |
C |
A |
3: 64,472,563 (GRCm39) |
V53F |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,388 (GRCm39) |
I304T |
probably benign |
Het |
| Vmn2r88 |
A |
C |
14: 51,651,454 (GRCm39) |
Y256S |
|
Het |
| Zfhx4 |
A |
T |
3: 5,468,831 (GRCm39) |
K3021N |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,795,988 (GRCm39) |
H224R |
probably damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,130 (GRCm39) |
E705G |
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 |
|
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'- ACACAACAACTGAAAGTCTGAGATG -3'
(R):5'- ACGTATCTATTGGCCTGGGC -3'
Sequencing Primer
(F):5'- CTGAGATGTAGAGATGATGTGTTACC -3'
(R):5'- TCCTGGATCAGATGTTATTTAGTCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation