Incidental Mutation 'R4696:Clca4b'
ID 355678
Institutional Source Beutler Lab
Gene Symbol Clca4b
Ensembl Gene ENSMUSG00000074195
Gene Name chloride channel accessory 4B
Synonyms AI747448
MMRRC Submission 041946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4696 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 144616682-144638290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144617146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 835 (I835V)
Ref Sequence ENSEMBL: ENSMUSP00000096149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098549]
AlphaFold Q3UW98
Predicted Effect probably benign
Transcript: ENSMUST00000098549
AA Change: I835V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: I835V

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
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 99% (74/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,241,817 (GRCm39) S1405G probably benign Het
Acaca T C 11: 84,171,261 (GRCm39) V1165A possibly damaging Het
Acin1 C A 14: 54,880,474 (GRCm39) probably benign Het
Akr1b8 G A 6: 34,340,312 (GRCm39) V159I probably benign Het
Alms1 T C 6: 85,597,504 (GRCm39) Y777H probably damaging Het
Cblc C A 7: 19,530,407 (GRCm39) G101C probably damaging Het
Cdc42ep5 G A 7: 4,154,614 (GRCm39) P58L possibly damaging Het
Cic A G 7: 24,987,908 (GRCm39) N1532S probably benign Het
Cipc T A 12: 86,999,714 (GRCm39) probably benign Het
Cntrob C T 11: 69,211,714 (GRCm39) G170D probably damaging Het
Col14a1 A G 15: 55,235,998 (GRCm39) Q304R unknown Het
Csmd3 T C 15: 47,777,364 (GRCm39) T1181A probably benign Het
Dchs1 A G 7: 105,413,834 (GRCm39) F994L probably damaging Het
Ddx42 C A 11: 106,138,529 (GRCm39) A776D probably benign Het
Disp2 G T 2: 118,622,165 (GRCm39) E966* probably null Het
Dmpk A T 7: 18,822,139 (GRCm39) N366Y probably damaging Het
Dmrt1 A G 19: 25,580,674 (GRCm39) Y362C possibly damaging Het
Dock10 C T 1: 80,493,330 (GRCm39) G1880D possibly damaging Het
Dzip1l A G 9: 99,545,664 (GRCm39) R638G possibly damaging Het
Dzip3 T A 16: 48,746,332 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Eno4 T C 19: 58,934,068 (GRCm39) S90P probably damaging Het
Epn2 C G 11: 61,426,129 (GRCm39) A283P probably damaging Het
Eya3 T A 4: 132,397,543 (GRCm39) Y67* probably null Het
Fat2 T C 11: 55,175,841 (GRCm39) N1624S probably benign Het
Fez1 T A 9: 36,781,766 (GRCm39) probably null Het
Fgfr1 T C 8: 26,053,504 (GRCm39) S260P probably damaging Het
Glb1 A G 9: 114,293,220 (GRCm39) S532G probably benign Het
Gm15455 A T 1: 33,876,874 (GRCm39) noncoding transcript Het
Grid2ip A G 5: 143,377,131 (GRCm39) probably benign Het
Guca2b C A 4: 119,513,996 (GRCm39) G129V probably damaging Het
Hes3 T C 4: 152,372,124 (GRCm39) E65G probably damaging Het
Itgbl1 T C 14: 124,204,120 (GRCm39) C404R probably damaging Het
Kansl1 C T 11: 104,247,593 (GRCm39) V586I possibly damaging Het
Krt18 A G 15: 101,940,293 (GRCm39) D390G probably benign Het
Laptm5 T C 4: 130,660,982 (GRCm39) probably benign Het
Lgals3bp C T 11: 118,288,977 (GRCm39) E116K probably benign Het
Lrrc39 C T 3: 116,363,769 (GRCm39) S114F probably damaging Het
Mfap3 T C 11: 57,419,117 (GRCm39) probably null Het
Nphp3 A G 9: 103,899,931 (GRCm39) H481R probably benign Het
Ntm T C 9: 29,090,501 (GRCm39) T73A possibly damaging Het
Or5m13b T A 2: 85,749,215 (GRCm39) probably null Het
Or8g4 T A 9: 39,662,024 (GRCm39) M114K probably damaging Het
Pbk G A 14: 66,049,386 (GRCm39) C21Y probably benign Het
Pglyrp1 A G 7: 18,618,871 (GRCm39) E74G probably benign Het
R3hdm1 G T 1: 128,164,503 (GRCm39) probably benign Het
Rap1gds1 T C 3: 138,633,375 (GRCm39) T599A probably damaging Het
Rigi A G 4: 40,203,798 (GRCm39) probably benign Het
Rims1 A T 1: 22,358,836 (GRCm39) M1273K probably damaging Het
Sbf1 G A 15: 89,187,315 (GRCm39) R721* probably null Het
Slc17a1 T C 13: 24,064,700 (GRCm39) I388T probably damaging Het
Sprn A C 7: 139,733,469 (GRCm39) probably benign Het
Tango6 T C 8: 107,426,863 (GRCm39) V459A possibly damaging Het
Tert C T 13: 73,775,939 (GRCm39) T230I probably benign Het
Thada T C 17: 84,733,614 (GRCm39) D1011G possibly damaging Het
Tln2 C T 9: 67,302,743 (GRCm39) R76Q probably damaging Het
Trip11 A T 12: 101,851,549 (GRCm39) N838K possibly damaging Het
Ttn A G 2: 76,597,997 (GRCm39) W19639R probably damaging Het
Ubr4 T A 4: 139,135,983 (GRCm39) S924T probably benign Het
Upb1 A G 10: 75,250,861 (GRCm39) E110G probably benign Het
Vegfa C T 17: 46,339,272 (GRCm39) probably null Het
Vmn1r231 T C 17: 21,110,901 (GRCm39) K5E possibly damaging Het
Vmn2r16 A T 5: 109,487,168 (GRCm39) I130F probably benign Het
Wscd2 T A 5: 113,689,240 (GRCm39) V82E probably benign Het
Zfp462 A G 4: 55,008,612 (GRCm39) T193A probably benign Het
Zfp467 A G 6: 48,416,291 (GRCm39) probably benign Het
Zfp619 T C 7: 39,186,412 (GRCm39) L814P 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
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
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'- CCTGATGAGGACCTTTTGTTCTTTAAG -3'
(R):5'- GGTGTGATGCAATAACTAACCC -3'

Sequencing Primer
(F):5'- ACCACAGACAGCACAATAGTAG -3'
(R):5'- TAACCCACACATAACATTTTTCTCAG -3'
Posted On 2015-10-21