Incidental Mutation 'R4646:Clca4b'
ID 500698
Institutional Source Beutler Lab
Gene Symbol Clca4b
Ensembl Gene ENSMUSG00000074195
Gene Name chloride channel accessory 4B
Synonyms AI747448
MMRRC Submission 041907-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4646 (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 144634286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 102 (H102Q)
Ref Sequence ENSEMBL: ENSMUSP00000096149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098549]
AlphaFold Q3UW98
Predicted Effect probably benign
Transcript: ENSMUST00000098549
AA Change: H102Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: H102Q

DomainStartEndE-ValueType
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: 99.0%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700031F05Rik G T X: 101,904,515 (GRCm39) N132K possibly damaging Het
2010315B03Rik T A 9: 124,056,228 (GRCm39) Y232F probably benign Het
Acadl A T 1: 66,870,602 (GRCm39) S428R probably benign Het
Adamts10 A G 17: 33,764,529 (GRCm39) D683G probably damaging Het
Angptl4 G A 17: 34,000,273 (GRCm39) P32S probably benign Het
Apob A G 12: 8,062,759 (GRCm39) N134S probably benign Het
Atr G A 9: 95,753,250 (GRCm39) probably null Het
B4galnt1 G A 10: 127,003,705 (GRCm39) V223M probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
C1galt1c1 A T X: 37,720,349 (GRCm39) S216T probably benign Het
C2cd3 A C 7: 100,021,657 (GRCm39) probably benign Het
Cntrl T C 2: 35,039,473 (GRCm39) I557T probably damaging Het
Col26a1 G A 5: 136,876,404 (GRCm39) S72F probably damaging Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Csmd1 T C 8: 15,982,511 (GRCm39) I2719V possibly damaging Het
Cul9 C T 17: 46,849,943 (GRCm39) W502* probably null Het
Dazl A T 17: 50,595,183 (GRCm39) F84I probably damaging Het
Dcaf1 G T 9: 106,724,006 (GRCm39) R478L probably benign Het
Dock5 T G 14: 68,080,228 (GRCm39) I198L probably benign Het
Dock9 A T 14: 121,823,658 (GRCm39) L1428H probably damaging Het
Dync1li1 T A 9: 114,538,237 (GRCm39) V198E probably damaging Het
Egf A T 3: 129,513,925 (GRCm39) C429S probably damaging Het
Ehmt1 T C 2: 24,781,696 (GRCm39) E7G probably null Het
Ercc4 G T 16: 12,965,438 (GRCm39) R690L probably damaging Het
Erich5 T C 15: 34,471,112 (GRCm39) C114R possibly damaging Het
Etv1 T C 12: 38,915,685 (GRCm39) S428P possibly damaging Het
Fbxo31 G T 8: 122,286,755 (GRCm39) F174L probably benign Het
Fbxo33 T A 12: 59,251,217 (GRCm39) I433L probably benign Het
Fez2 A T 17: 78,720,357 (GRCm39) V99E probably damaging Het
Gabarapl2 A C 8: 112,669,185 (GRCm39) K48Q probably damaging Het
Gfi1b T A 2: 28,500,149 (GRCm39) H294L probably damaging Het
Gk2 A G 5: 97,604,056 (GRCm39) S261P probably damaging Het
Gpr158 T C 2: 21,831,864 (GRCm39) I988T probably benign Het
Grk3 G C 5: 113,077,586 (GRCm39) H394D probably benign Het
Grm6 A G 11: 50,748,033 (GRCm39) E381G probably benign Het
Gtf3c1 A T 7: 125,258,266 (GRCm39) M1268K possibly damaging Het
Hikeshi A T 7: 89,572,854 (GRCm39) I113N probably damaging Het
Hmg20b T A 10: 81,184,416 (GRCm39) Q129L probably damaging Het
Hunk C A 16: 90,272,791 (GRCm39) T365K probably damaging Het
Ints15 A T 5: 143,293,740 (GRCm39) W246R probably damaging Het
Kdm5a T G 6: 120,351,938 (GRCm39) V176G possibly damaging Het
Kif2a T A 13: 107,098,693 (GRCm39) E691V probably damaging Het
Ly6e T C 15: 74,830,510 (GRCm39) probably null Het
Map1b G T 13: 99,568,977 (GRCm39) P1248Q unknown Het
Mettl25 A G 10: 105,662,416 (GRCm39) S185P probably damaging Het
Mfap3l T A 8: 61,124,184 (GRCm39) V142D probably damaging Het
Mip T A 10: 128,062,922 (GRCm39) H122Q probably benign Het
Mkx G A 18: 6,992,040 (GRCm39) T280I probably benign Het
Msi1 A T 5: 115,589,514 (GRCm39) probably null Het
Mtcl2 T C 2: 156,862,426 (GRCm39) E1501G probably damaging Het
Muc5b A G 7: 141,416,377 (GRCm39) M3108V probably benign Het
Mybl1 A G 1: 9,742,511 (GRCm39) S625P probably damaging Het
Myo7b C A 18: 32,127,422 (GRCm39) V627F probably benign Het
Ndst3 A T 3: 123,465,684 (GRCm39) I96N probably damaging Het
Nrp1 A T 8: 129,184,425 (GRCm39) T357S probably benign Het
Obscn G T 11: 59,015,396 (GRCm39) Y1050* probably null Het
Or2ak7 A G 11: 58,575,556 (GRCm39) N286D probably damaging Het
Or2d4 A T 7: 106,543,547 (GRCm39) N220K probably benign Het
Or2y1c A C 11: 49,361,451 (GRCm39) I158L probably benign Het
Or4c107 T A 2: 88,789,556 (GRCm39) F249I probably damaging Het
Or5d47 A T 2: 87,804,142 (GRCm39) I289K probably benign Het
Or5i1 T C 2: 87,613,565 (GRCm39) V227A possibly damaging Het
Otof T C 5: 30,540,914 (GRCm39) E875G possibly damaging Het
Pick1 A T 15: 79,133,137 (GRCm39) D399V probably benign Het
Pik3c2g T A 6: 139,665,744 (GRCm39) S22T probably benign Het
Pnpla2 A G 7: 141,038,574 (GRCm39) E276G possibly damaging Het
Pomk A T 8: 26,473,633 (GRCm39) S107T probably damaging Het
Rbm46 A T 3: 82,771,765 (GRCm39) D283E probably benign Het
Rimbp3 A G 16: 17,030,962 (GRCm39) D1462G probably damaging Het
Rnf112 T A 11: 61,342,936 (GRCm39) E230V probably damaging Het
Rock1 T C 18: 10,112,391 (GRCm39) T455A probably benign Het
Rtp4 A T 16: 23,428,790 (GRCm39) M18L probably benign Het
Scaf11 A T 15: 96,317,981 (GRCm39) probably null Het
Schip1 T C 3: 67,972,297 (GRCm39) V8A probably benign Het
Sec31b T C 19: 44,515,060 (GRCm39) H351R probably benign Het
Sh3bp5l A G 11: 58,237,177 (GRCm39) D378G probably benign Het
Sowahb T C 5: 93,190,715 (GRCm39) D668G probably damaging Het
Spam1 A G 6: 24,800,586 (GRCm39) T442A probably benign Het
Syt14 T A 1: 192,615,633 (GRCm39) Y451F probably damaging Het
Tafa5 T G 15: 87,604,783 (GRCm39) S115A probably damaging Het
Tdh A G 14: 63,731,205 (GRCm39) L323P possibly damaging Het
Tet2 A T 3: 133,193,843 (GRCm39) M197K probably benign Het
Thbs1 G A 2: 117,948,810 (GRCm39) A489T probably benign Het
Tnfaip1 C T 11: 78,420,008 (GRCm39) R88Q probably damaging Het
Tnn T C 1: 159,973,612 (GRCm39) M252V probably benign Het
Trdn G T 10: 33,071,977 (GRCm39) E215* probably null Het
Trim55 T C 3: 19,725,286 (GRCm39) F268L probably benign Het
Trmt112 T A 19: 6,887,816 (GRCm39) V55E possibly damaging Het
Tube1 A G 10: 39,018,363 (GRCm39) M147V possibly damaging Het
Ubn1 A G 16: 4,895,851 (GRCm39) T966A probably damaging Het
Unc80 A G 1: 66,708,394 (GRCm39) I2651V probably benign Het
Vmn1r172 G A 7: 23,359,919 (GRCm39) R268H probably benign Het
Vmn1r231 T A 17: 21,110,571 (GRCm39) I115F probably damaging Het
Vmn1r237 A G 17: 21,534,400 (GRCm39) K41R probably benign Het
Vmn2r58 A T 7: 41,509,935 (GRCm39) N547K probably damaging Het
Vmn2r74 T C 7: 85,606,782 (GRCm39) D188G probably benign Het
Vwa5b2 A G 16: 20,415,079 (GRCm39) K367R probably damaging Het
Washc4 T A 10: 83,410,407 (GRCm39) M665K possibly damaging Het
Wbp11 T A 6: 136,798,189 (GRCm39) Y236F probably benign Het
Wbp4 T A 14: 79,709,801 (GRCm39) I145F possibly damaging Het
Wwc2 C A 8: 48,373,636 (GRCm39) D77Y probably damaging Het
Zpld2 G A 4: 133,929,459 (GRCm39) A282V probably benign Het
Other mutations in Clca4b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9733:Clca4b UTSW 3 144,621,272 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCCACTTTAATGTCAGCCTG -3'
(R):5'- GTGCACCTAAGACATGACTCC -3'

Sequencing Primer
(F):5'- GCCACTTTAATGTCAGCCTGAGAAAG -3'
(R):5'- CCTAAGACATGACTCCATTCTCATG -3'
Posted On 2017-12-01