Incidental Mutation 'R9733:Clca4b'
| ID |
731531 |
| 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 # |
R9733 (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 G
at 144621272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 601
(K601Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
| AlphaFold |
Q3UW98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
AA Change: K601Q
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: K601Q
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
C |
T |
14: 15,712,825 (GRCm39) |
|
probably benign |
Het |
| 4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
| Adam34l |
T |
C |
8: 44,079,186 (GRCm39) |
N346S |
possibly damaging |
Het |
| Alpi |
C |
T |
1: 87,028,516 (GRCm39) |
A125T |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,014,957 (GRCm39) |
H468L |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,901,294 (GRCm39) |
L836* |
probably null |
Het |
| Arv1 |
T |
C |
8: 125,458,658 (GRCm39) |
Y261H |
probably damaging |
Het |
| Atf6 |
C |
T |
1: 170,662,402 (GRCm39) |
S286N |
probably benign |
Het |
| Atl3 |
G |
A |
19: 7,509,705 (GRCm39) |
G478R |
probably damaging |
Het |
| Avil |
C |
T |
10: 126,843,711 (GRCm39) |
R184C |
probably damaging |
Het |
| Bcl6b |
A |
G |
11: 70,119,323 (GRCm39) |
I131T |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,732 (GRCm39) |
M1437K |
|
Het |
| Catsper3 |
T |
C |
13: 55,946,752 (GRCm39) |
S150P |
probably damaging |
Het |
| Cd7 |
A |
G |
11: 120,928,637 (GRCm39) |
S132P |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,016,533 (GRCm39) |
D1142G |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,033,126 (GRCm39) |
H651R |
probably damaging |
Het |
| Cyp2s1 |
T |
A |
7: 25,507,529 (GRCm39) |
T307S |
probably damaging |
Het |
| Dcaf11 |
A |
G |
14: 55,803,170 (GRCm39) |
D328G |
probably damaging |
Het |
| Eapp |
A |
T |
12: 54,739,741 (GRCm39) |
S25R |
probably damaging |
Het |
| Ebag9 |
T |
A |
15: 44,491,033 (GRCm39) |
|
probably null |
Het |
| Exog |
G |
A |
9: 119,291,586 (GRCm39) |
E288K |
possibly damaging |
Het |
| Fads2 |
A |
T |
19: 10,047,940 (GRCm39) |
Y265N |
probably damaging |
Het |
| Fam234b |
T |
A |
6: 135,194,008 (GRCm39) |
S220R |
possibly damaging |
Het |
| Fcgbp |
T |
A |
7: 27,803,012 (GRCm39) |
C1539S |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,615,563 (GRCm39) |
T589A |
probably benign |
Het |
| Fv1 |
C |
T |
4: 147,954,621 (GRCm39) |
R396W |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,954,654 (GRCm39) |
F407L |
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,648,367 (GRCm39) |
T112A |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,262,011 (GRCm39) |
I2704T |
probably benign |
Het |
| Ighm |
T |
A |
12: 113,386,097 (GRCm39) |
E84D |
probably benign |
Het |
| Ikzf5 |
A |
G |
7: 130,994,012 (GRCm39) |
V205A |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,797,351 (GRCm39) |
V844L |
probably benign |
Het |
| Kif2a |
A |
C |
13: 107,106,304 (GRCm39) |
S528R |
probably damaging |
Het |
| Klhl29 |
G |
A |
12: 5,190,641 (GRCm39) |
T118M |
probably damaging |
Het |
| Krt4 |
C |
A |
15: 101,827,564 (GRCm39) |
G492C |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,116,940 (GRCm39) |
I2441N |
|
Het |
| Lin7a |
T |
C |
10: 107,247,905 (GRCm39) |
V192A |
possibly damaging |
Het |
| Marchf8 |
T |
A |
6: 116,378,990 (GRCm39) |
V308D |
probably damaging |
Het |
| Mgat5b |
T |
C |
11: 116,838,074 (GRCm39) |
S238P |
possibly damaging |
Het |
| Mrps25 |
A |
G |
6: 92,155,715 (GRCm39) |
S73P |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,216,310 (GRCm39) |
P2788T |
unknown |
Het |
| Ncf1 |
T |
C |
5: 134,250,899 (GRCm39) |
T347A |
probably benign |
Het |
| Ndufaf4 |
T |
C |
4: 24,903,177 (GRCm39) |
M122T |
probably benign |
Het |
| Nfil3 |
C |
T |
13: 53,121,591 (GRCm39) |
A438T |
probably damaging |
Het |
| Noc2l |
T |
G |
4: 156,328,022 (GRCm39) |
I504S |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,166,955 (GRCm39) |
C735R |
probably damaging |
Het |
| Or10g6 |
A |
T |
9: 39,934,171 (GRCm39) |
S161C |
probably benign |
Het |
| Or2y10 |
T |
C |
11: 49,454,961 (GRCm39) |
L71P |
probably damaging |
Het |
| Or5d38 |
C |
A |
2: 87,955,000 (GRCm39) |
V110L |
probably damaging |
Het |
| Or6b9 |
A |
C |
7: 106,555,846 (GRCm39) |
L99R |
possibly damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,225,506 (GRCm39) |
H773R |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,237,314 (GRCm39) |
V1324A |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,158,034 (GRCm39) |
Y568C |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,219,040 (GRCm39) |
M197K |
probably damaging |
Het |
| Plekho1 |
C |
T |
3: 95,903,091 (GRCm39) |
G7S |
probably benign |
Het |
| Pramel17 |
A |
G |
4: 101,692,965 (GRCm39) |
V345A |
possibly damaging |
Het |
| Prl7d1 |
A |
C |
13: 27,898,339 (GRCm39) |
S57A |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,741,512 (GRCm39) |
V548A |
possibly damaging |
Het |
| Prss56 |
C |
T |
1: 87,111,219 (GRCm39) |
P2L |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,580,030 (GRCm39) |
D1277G |
possibly damaging |
Het |
| Rnf19b |
T |
A |
4: 128,977,812 (GRCm39) |
D676E |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,100,521 (GRCm39) |
T126S |
probably benign |
Het |
| Sh3gl3 |
T |
C |
7: 81,917,562 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc35f2 |
T |
C |
9: 53,708,385 (GRCm39) |
V126A |
probably benign |
Het |
| Snrnp200 |
A |
T |
2: 127,068,240 (GRCm39) |
Q860L |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,422,711 (GRCm39) |
N435S |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,214 (GRCm39) |
S349P |
possibly damaging |
Het |
| Tie1 |
A |
T |
4: 118,330,183 (GRCm39) |
W1040R |
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,562,244 (GRCm39) |
Y678N |
probably damaging |
Het |
| Trav12-3 |
T |
C |
14: 53,859,474 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,576,379 (GRCm39) |
S24838L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,725,660 (GRCm39) |
W6158R |
unknown |
Het |
| Vegfa |
T |
C |
17: 46,335,401 (GRCm39) |
S298G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,643 (GRCm39) |
K421R |
probably benign |
Het |
| Zfp959 |
C |
A |
17: 56,204,866 (GRCm39) |
T301N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTCTGTGGGTTACCTGCAC -3'
(R):5'- TCTAAGAACACTCCACCCAATTTTG -3'
Sequencing Primer
(F):5'- GGGTTACCTGCACCGTTGTC -3'
(R):5'- GAACACTCCACCCAATTTTGTTTTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation