Incidental Mutation 'R5534:Clca4b'
ID |
434690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4b
|
Ensembl Gene |
ENSMUSG00000074195 |
Gene Name |
chloride channel accessory 4B |
Synonyms |
AI747448 |
MMRRC Submission |
043092-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R5534 (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 T
at 144621227 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 616
(Y616N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
AlphaFold |
Q3UW98 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098549
AA Change: Y616N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096149 Gene: ENSMUSG00000074195 AA Change: Y616N
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: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
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 |
Adam18 |
T |
A |
8: 25,155,530 (GRCm39) |
D163V |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,740,947 (GRCm39) |
|
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,814,442 (GRCm39) |
E355G |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,232,491 (GRCm39) |
N172S |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,510,231 (GRCm39) |
M712T |
probably damaging |
Het |
Apcdd1 |
T |
C |
18: 63,070,105 (GRCm39) |
I124T |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,732,347 (GRCm39) |
K256R |
probably damaging |
Het |
Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
Ccdc141 |
A |
G |
2: 76,888,241 (GRCm39) |
V508A |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 58,024,450 (GRCm39) |
S226P |
possibly damaging |
Het |
Cep72 |
T |
C |
13: 74,210,335 (GRCm39) |
E9G |
probably benign |
Het |
Cnot4 |
A |
G |
6: 35,054,939 (GRCm39) |
S117P |
possibly damaging |
Het |
Col11a2 |
C |
T |
17: 34,269,998 (GRCm39) |
A429V |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,465,238 (GRCm39) |
E979G |
unknown |
Het |
Coq10b |
T |
C |
1: 55,103,359 (GRCm39) |
Y46H |
possibly damaging |
Het |
Cplane1 |
C |
A |
15: 8,258,319 (GRCm39) |
F2188L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,943,596 (GRCm39) |
T3169A |
possibly damaging |
Het |
Dock6 |
G |
A |
9: 21,714,372 (GRCm39) |
R1824* |
probably null |
Het |
Dsp |
A |
C |
13: 38,379,818 (GRCm39) |
I1589L |
probably benign |
Het |
Edil3 |
A |
G |
13: 89,347,593 (GRCm39) |
T383A |
probably benign |
Het |
Efemp1 |
T |
C |
11: 28,817,758 (GRCm39) |
V79A |
probably damaging |
Het |
Esyt1 |
C |
T |
10: 128,355,329 (GRCm39) |
V471I |
probably benign |
Het |
Fbxo30 |
T |
C |
10: 11,165,409 (GRCm39) |
S44P |
possibly damaging |
Het |
Fdx2 |
G |
T |
9: 20,984,562 (GRCm39) |
D57E |
probably benign |
Het |
Gbp11 |
A |
T |
5: 105,478,904 (GRCm39) |
V178D |
probably damaging |
Het |
Gna11 |
A |
T |
10: 81,366,967 (GRCm39) |
I283N |
probably damaging |
Het |
Grid2 |
A |
T |
6: 63,480,345 (GRCm39) |
Q53L |
probably benign |
Het |
Jmjd6 |
A |
G |
11: 116,731,252 (GRCm39) |
S266P |
probably damaging |
Het |
Kirrel1 |
G |
A |
3: 86,997,825 (GRCm39) |
R233C |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,735,238 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,686,267 (GRCm39) |
T1171S |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,210,191 (GRCm39) |
S650R |
probably benign |
Het |
Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
Mgat1 |
T |
C |
11: 49,151,976 (GRCm39) |
V153A |
probably benign |
Het |
Mmp16 |
A |
T |
4: 18,110,452 (GRCm39) |
D416V |
probably damaging |
Het |
Myh3 |
A |
T |
11: 66,987,870 (GRCm39) |
R1448W |
probably damaging |
Het |
Nedd1 |
A |
T |
10: 92,530,894 (GRCm39) |
F398L |
probably benign |
Het |
Or2a14 |
A |
G |
6: 43,130,567 (GRCm39) |
I109M |
probably benign |
Het |
Or4k45 |
T |
C |
2: 111,395,349 (GRCm39) |
T147A |
probably benign |
Het |
Or5ac17 |
T |
C |
16: 59,036,403 (GRCm39) |
D191G |
probably benign |
Het |
Or5g9 |
T |
C |
2: 85,552,331 (GRCm39) |
I194T |
probably benign |
Het |
Otud3 |
A |
G |
4: 138,624,894 (GRCm39) |
L269P |
probably damaging |
Het |
Otx1 |
A |
G |
11: 21,946,296 (GRCm39) |
|
probably benign |
Het |
Pcdhga7 |
A |
C |
18: 37,849,331 (GRCm39) |
D446A |
probably damaging |
Het |
Pcnx2 |
T |
G |
8: 126,564,754 (GRCm39) |
K1046N |
possibly damaging |
Het |
Pfkp |
C |
A |
13: 6,698,619 (GRCm39) |
G33W |
probably damaging |
Het |
Poglut2 |
C |
T |
1: 44,151,837 (GRCm39) |
V351M |
probably damaging |
Het |
Pold1 |
A |
G |
7: 44,188,043 (GRCm39) |
I585T |
probably damaging |
Het |
Pole4 |
A |
G |
6: 82,629,115 (GRCm39) |
Y84H |
possibly damaging |
Het |
Pramel26 |
G |
T |
4: 143,539,169 (GRCm39) |
S108* |
probably null |
Het |
Ptpn23 |
A |
G |
9: 110,221,809 (GRCm39) |
S126P |
possibly damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rin3 |
T |
C |
12: 102,353,891 (GRCm39) |
L766P |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rras2 |
G |
A |
7: 113,649,650 (GRCm39) |
T138I |
possibly damaging |
Het |
Scrn2 |
A |
G |
11: 96,921,751 (GRCm39) |
I74V |
probably benign |
Het |
Sema6d |
T |
C |
2: 124,501,735 (GRCm39) |
I526T |
possibly damaging |
Het |
Shd |
G |
T |
17: 56,278,577 (GRCm39) |
E47* |
probably null |
Het |
Slc22a27 |
T |
C |
19: 7,903,996 (GRCm39) |
H47R |
probably damaging |
Het |
Slc36a3 |
C |
G |
11: 55,033,595 (GRCm39) |
W141S |
possibly damaging |
Het |
Slc9c1 |
T |
A |
16: 45,376,977 (GRCm39) |
V429E |
probably benign |
Het |
Smg8 |
A |
T |
11: 86,976,296 (GRCm39) |
D428E |
probably benign |
Het |
Snrpe |
A |
T |
1: 133,534,211 (GRCm39) |
F84Y |
probably benign |
Het |
Tbc1d2b |
C |
T |
9: 90,109,559 (GRCm39) |
D306N |
possibly damaging |
Het |
Trav9n-4 |
A |
G |
14: 53,532,356 (GRCm39) |
Y70C |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,936,367 (GRCm39) |
F843L |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,870,847 (GRCm39) |
I330T |
probably damaging |
Het |
Wnt11 |
T |
C |
7: 98,488,349 (GRCm39) |
L12P |
probably damaging |
Het |
Zan |
A |
G |
5: 137,436,713 (GRCm39) |
S2047P |
unknown |
Het |
Zfp763 |
A |
C |
17: 33,240,768 (GRCm39) |
S20R |
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 |
|
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'- TCAGGCACTTGTTCCCACTG -3'
(R):5'- CGTTGCACACTAAATGCTTGCTG -3'
Sequencing Primer
(F):5'- TGTTCCCACTGCCCCAGG -3'
(R):5'- GCTTGCTGCATGTTTCATTGAC -3'
|
Posted On |
2016-10-24 |