Incidental Mutation 'R5715:Clca4b'
| ID |
451093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca4b
|
| Ensembl Gene |
ENSMUSG00000074195 |
| Gene Name |
chloride channel accessory 4B |
| Synonyms |
AI747448 |
| MMRRC Submission |
043336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5715 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144616682-144638290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144619018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 707
(V707A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
| AlphaFold |
Q3UW98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
AA Change: V707A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: V707A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,910,777 (GRCm39) |
Y552F |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,596 (GRCm39) |
D147E |
probably benign |
Het |
| Atg4c |
G |
T |
4: 99,146,639 (GRCm39) |
L405F |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,938,615 (GRCm39) |
L2670F |
probably damaging |
Het |
| Cdc20 |
T |
C |
4: 118,292,015 (GRCm39) |
D379G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,791,798 (GRCm39) |
M2520V |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,523,347 (GRCm39) |
C2743* |
probably null |
Het |
| Coq6 |
C |
A |
12: 84,413,681 (GRCm39) |
D70E |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,798,335 (GRCm39) |
V1450D |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,452,937 (GRCm39) |
L3847P |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,316,189 (GRCm39) |
H316Q |
probably benign |
Het |
| Dusp19 |
T |
A |
2: 80,461,330 (GRCm39) |
N206K |
probably benign |
Het |
| Fam13c |
T |
G |
10: 70,370,670 (GRCm39) |
F270C |
probably damaging |
Het |
| Fam20a |
T |
C |
11: 109,569,257 (GRCm39) |
E246G |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,305,302 (GRCm39) |
F65L |
probably damaging |
Het |
| Fshr |
T |
A |
17: 89,293,824 (GRCm39) |
|
probably null |
Het |
| Fstl4 |
T |
C |
11: 52,891,243 (GRCm39) |
V127A |
possibly damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,610,804 (GRCm39) |
I75F |
probably benign |
Het |
| Grm5 |
C |
A |
7: 87,779,464 (GRCm39) |
A968E |
probably benign |
Het |
| Gucy2g |
A |
C |
19: 55,221,587 (GRCm39) |
F305V |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,953,570 (GRCm39) |
F629L |
probably benign |
Het |
| Hoxb1 |
A |
G |
11: 96,257,152 (GRCm39) |
E167G |
probably benign |
Het |
| Hoxd4 |
T |
C |
2: 74,557,708 (GRCm39) |
L29P |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,168,866 (GRCm39) |
L211P |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,449,076 (GRCm39) |
V499A |
probably benign |
Het |
| Irak3 |
A |
T |
10: 119,978,641 (GRCm39) |
H511Q |
possibly damaging |
Het |
| Itpripl1 |
T |
C |
2: 126,983,927 (GRCm39) |
E65G |
probably damaging |
Het |
| Lurap1l |
T |
A |
4: 80,871,958 (GRCm39) |
S150R |
possibly damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,730,723 (GRCm39) |
R172Q |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,577,807 (GRCm39) |
D59G |
probably damaging |
Het |
| Mettl21a |
A |
T |
1: 64,654,314 (GRCm39) |
S68T |
probably benign |
Het |
| Mlxip |
T |
A |
5: 123,578,121 (GRCm39) |
W146R |
probably damaging |
Het |
| Mpp2 |
T |
A |
11: 101,953,087 (GRCm39) |
N285I |
probably damaging |
Het |
| Mrgprb4 |
T |
C |
7: 47,848,787 (GRCm39) |
N47S |
probably damaging |
Het |
| Msi2 |
A |
G |
11: 88,276,889 (GRCm39) |
Y237H |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,570,734 (GRCm39) |
T598I |
possibly damaging |
Het |
| Musk |
A |
T |
4: 58,333,663 (GRCm39) |
I253F |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,875,246 (GRCm39) |
C1550F |
possibly damaging |
Het |
| Nckap5l |
T |
C |
15: 99,321,457 (GRCm39) |
T1137A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
| Nxph1 |
T |
A |
6: 9,247,740 (GRCm39) |
V237E |
probably damaging |
Het |
| Or52a33 |
A |
C |
7: 103,289,009 (GRCm39) |
S113A |
probably damaging |
Het |
| Pla2g12a |
A |
G |
3: 129,688,591 (GRCm39) |
K150E |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,097,989 (GRCm39) |
Y56H |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,057,870 (GRCm39) |
D159G |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,216,143 (GRCm39) |
R1238W |
probably damaging |
Het |
| Pts |
C |
T |
9: 50,433,578 (GRCm39) |
G124R |
probably damaging |
Het |
| Rfk |
A |
T |
19: 17,376,002 (GRCm39) |
I99F |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,780,197 (GRCm39) |
R151* |
probably null |
Het |
| Scn2a |
T |
A |
2: 65,547,928 (GRCm39) |
I1040N |
probably benign |
Het |
| Serinc5 |
A |
C |
13: 92,842,710 (GRCm39) |
T387P |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,236,841 (GRCm39) |
Q266R |
possibly damaging |
Het |
| Slc14a2 |
T |
C |
18: 78,201,551 (GRCm39) |
Y656C |
probably damaging |
Het |
| Slc26a3 |
T |
A |
12: 31,498,842 (GRCm39) |
|
probably null |
Het |
| Slc3a2 |
G |
T |
19: 8,685,594 (GRCm39) |
H168Q |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,626,522 (GRCm39) |
I449L |
probably benign |
Het |
| Smarcc1 |
T |
C |
9: 110,025,435 (GRCm39) |
V704A |
possibly damaging |
Het |
| Sox13 |
A |
G |
1: 133,313,921 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
C |
2: 119,902,985 (GRCm39) |
E7G |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,971,110 (GRCm39) |
D26G |
probably damaging |
Het |
| Tap1 |
A |
T |
17: 34,411,868 (GRCm39) |
R91* |
probably null |
Het |
| Tgfbrap1 |
A |
T |
1: 43,099,097 (GRCm39) |
V239D |
possibly damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,922 (GRCm39) |
Y124* |
probably null |
Het |
| Tmprss2 |
T |
A |
16: 97,370,183 (GRCm39) |
E327V |
possibly damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,790,133 (GRCm39) |
Y104C |
probably damaging |
Het |
| Ttll10 |
A |
T |
4: 156,129,848 (GRCm39) |
F154I |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,438,412 (GRCm39) |
Y40* |
probably null |
Het |
| Ubr5 |
A |
T |
15: 38,002,477 (GRCm39) |
S1519T |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,430 (GRCm39) |
D193A |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,805,628 (GRCm39) |
Y6N |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,015,201 (GRCm39) |
D447V |
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,155,717 (GRCm39) |
N519S |
possibly damaging |
Het |
| Zfp109 |
T |
C |
7: 23,928,995 (GRCm39) |
E138G |
possibly damaging |
Het |
| Znrf3 |
A |
C |
11: 5,236,239 (GRCm39) |
V157G |
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 |
|
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 |
|
|
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'- TCAGCATCTATTGGTTGCCAGG -3'
(R):5'- GCCATGCATGTGTGACAAC -3'
Sequencing Primer
(F):5'- GTTTTGATTGGGTTAACGTTGAAAC -3'
(R):5'- CAACCTCTCATCTGTTACAATGATG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation