Incidental Mutation 'R5875:Clca4b'
ID |
455445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4b
|
Ensembl Gene |
ENSMUSG00000074195 |
Gene Name |
chloride channel accessory 4B |
Synonyms |
AI747448 |
MMRRC Submission |
044082-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R5875 (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 C
at 144628650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 352
(S352R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
AlphaFold |
Q3UW98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098549
AA Change: S352R
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000096149 Gene: ENSMUSG00000074195 AA Change: S352R
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: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
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 |
1810024B03Rik |
A |
G |
2: 127,028,737 (GRCm39) |
V154A |
possibly damaging |
Het |
Abcc1 |
A |
G |
16: 14,284,901 (GRCm39) |
E1250G |
possibly damaging |
Het |
Ajap1 |
A |
C |
4: 153,516,798 (GRCm39) |
I181R |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,127,285 (GRCm39) |
Y3711C |
probably benign |
Het |
Ark2c |
T |
C |
18: 77,650,877 (GRCm39) |
|
probably benign |
Het |
Arl1 |
T |
C |
10: 88,577,841 (GRCm39) |
S137P |
probably benign |
Het |
Atp6v0a2 |
G |
A |
5: 124,793,391 (GRCm39) |
V583I |
probably benign |
Het |
Cdca7 |
T |
A |
2: 72,313,901 (GRCm39) |
M230K |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,778,464 (GRCm39) |
D2841V |
probably damaging |
Het |
Chp1 |
T |
A |
2: 119,402,296 (GRCm39) |
F90Y |
probably damaging |
Het |
Ckap5 |
A |
G |
2: 91,391,206 (GRCm39) |
T345A |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,231,692 (GRCm39) |
V1132A |
probably benign |
Het |
Crb2 |
T |
A |
2: 37,677,266 (GRCm39) |
|
probably null |
Het |
Crhbp |
A |
G |
13: 95,580,304 (GRCm39) |
F99L |
probably benign |
Het |
Dnmt3l |
A |
T |
10: 77,889,772 (GRCm39) |
M210L |
probably benign |
Het |
Dyrk2 |
T |
A |
10: 118,696,602 (GRCm39) |
R219W |
probably damaging |
Het |
Exosc1 |
A |
G |
19: 41,916,542 (GRCm39) |
I78T |
probably damaging |
Het |
Exosc9 |
T |
C |
3: 36,615,342 (GRCm39) |
|
probably null |
Het |
Frmd5 |
A |
G |
2: 121,388,959 (GRCm39) |
|
probably benign |
Het |
Gata2 |
T |
C |
6: 88,179,473 (GRCm39) |
L315P |
probably damaging |
Het |
Gm17067 |
G |
A |
7: 42,357,470 (GRCm39) |
T344I |
probably benign |
Het |
Gm4884 |
A |
T |
7: 40,692,360 (GRCm39) |
T110S |
possibly damaging |
Het |
Hapln3 |
T |
C |
7: 78,771,721 (GRCm39) |
E56G |
probably benign |
Het |
Helq |
A |
C |
5: 100,944,336 (GRCm39) |
I258S |
probably damaging |
Het |
Hoxd10 |
T |
C |
2: 74,522,426 (GRCm39) |
Y35H |
possibly damaging |
Het |
Inpp5b |
T |
C |
4: 124,674,199 (GRCm39) |
V302A |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,645,696 (GRCm39) |
I1027N |
possibly damaging |
Het |
Ints2 |
T |
C |
11: 86,129,138 (GRCm39) |
S482G |
probably benign |
Het |
Itih1 |
C |
T |
14: 30,651,487 (GRCm39) |
V902I |
probably benign |
Het |
Jkampl |
T |
C |
6: 73,446,028 (GRCm39) |
I174V |
possibly damaging |
Het |
Kctd16 |
T |
A |
18: 40,390,447 (GRCm39) |
|
probably benign |
Het |
Kif27 |
T |
C |
13: 58,458,918 (GRCm39) |
N971S |
probably benign |
Het |
Klra17 |
T |
C |
6: 129,851,791 (GRCm39) |
D27G |
probably benign |
Het |
Leo1 |
G |
C |
9: 75,357,842 (GRCm39) |
R412S |
probably damaging |
Het |
Lonrf2 |
T |
C |
1: 38,846,128 (GRCm39) |
N348S |
probably benign |
Het |
Lpp |
G |
A |
16: 24,427,059 (GRCm39) |
G62E |
probably benign |
Het |
Lyn |
G |
A |
4: 3,745,631 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
A |
4: 123,326,107 (GRCm39) |
N5128I |
possibly damaging |
Het |
Mapk7 |
T |
A |
11: 61,384,524 (GRCm39) |
I61L |
probably benign |
Het |
Mindy1 |
T |
C |
3: 95,202,125 (GRCm39) |
V334A |
probably damaging |
Het |
Muc20 |
G |
A |
16: 32,614,189 (GRCm39) |
T396I |
possibly damaging |
Het |
Myo5b |
A |
T |
18: 74,840,973 (GRCm39) |
|
probably null |
Het |
Noc4l |
A |
C |
5: 110,799,176 (GRCm39) |
|
probably null |
Het |
Oas1c |
A |
G |
5: 120,943,627 (GRCm39) |
Y171H |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,730,614 (GRCm39) |
|
probably benign |
Het |
Pmpcb |
G |
A |
5: 21,947,944 (GRCm39) |
E216K |
probably benign |
Het |
Pskh1 |
G |
A |
8: 106,639,731 (GRCm39) |
R137Q |
possibly damaging |
Het |
Ptprb |
T |
G |
10: 116,184,071 (GRCm39) |
W1628G |
probably benign |
Het |
Ranbp3 |
T |
A |
17: 57,014,955 (GRCm39) |
|
probably null |
Het |
Sart1 |
T |
C |
19: 5,433,823 (GRCm39) |
D338G |
probably damaging |
Het |
Scn8a |
T |
A |
15: 100,870,703 (GRCm39) |
Y251* |
probably null |
Het |
Sdk2 |
G |
T |
11: 113,720,885 (GRCm39) |
T1348K |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,323,379 (GRCm39) |
Y1272H |
probably damaging |
Het |
Slc26a1 |
A |
T |
5: 108,819,903 (GRCm39) |
L432Q |
probably damaging |
Het |
Susd1 |
A |
T |
4: 59,412,203 (GRCm39) |
F117I |
possibly damaging |
Het |
Taf5 |
A |
T |
19: 47,064,549 (GRCm39) |
Y465F |
probably damaging |
Het |
Tcstv1a |
T |
A |
13: 120,355,630 (GRCm39) |
M1L |
probably benign |
Het |
Tectb |
A |
G |
19: 55,178,058 (GRCm39) |
D193G |
possibly damaging |
Het |
Tex56 |
T |
G |
13: 35,116,429 (GRCm39) |
C59W |
probably damaging |
Het |
Tirap |
G |
A |
9: 35,100,465 (GRCm39) |
P73L |
probably damaging |
Het |
Tm6sf2 |
A |
G |
8: 70,528,039 (GRCm39) |
D86G |
possibly damaging |
Het |
Tmem161b |
A |
T |
13: 84,442,977 (GRCm39) |
H481L |
probably damaging |
Het |
Tnrc6c |
G |
A |
11: 117,650,534 (GRCm39) |
V1763I |
probably damaging |
Het |
Ubxn1 |
T |
C |
19: 8,849,584 (GRCm39) |
S75P |
probably benign |
Het |
Uhrf2 |
A |
G |
19: 30,066,702 (GRCm39) |
K709E |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,809,092 (GRCm39) |
Y74N |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,335,424 (GRCm39) |
E81G |
probably benign |
Het |
Zbtb45 |
A |
G |
7: 12,742,237 (GRCm39) |
V7A |
possibly damaging |
Het |
Zfp668 |
C |
A |
7: 127,465,474 (GRCm39) |
R570L |
possibly damaging |
Het |
Zmiz1 |
T |
A |
14: 25,636,390 (GRCm39) |
M125K |
possibly damaging |
Het |
Zmiz2 |
T |
C |
11: 6,355,072 (GRCm39) |
L913P |
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 |
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'- CCTGTGTGTTTTGTCTAGAACC -3'
(R):5'- ATGTGCCCCATGTTACTTATAACCAC -3'
Sequencing Primer
(F):5'- AGAACAGTAGAACTTCACTTTGTTC -3'
(R):5'- CAGTTCTTGTCAATAAACCCTAAGC -3'
|
Posted On |
2017-02-10 |