Incidental Mutation 'R0266:Clca4b'
ID 34908
Institutional Source Beutler Lab
Gene Symbol Clca4b
Ensembl Gene ENSMUSG00000074195
Gene Name chloride channel accessory 4B
Synonyms AI747448
MMRRC Submission 038492-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0266 (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 144628547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 387 (I387V)
Ref Sequence ENSEMBL: ENSMUSP00000096149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098549]
AlphaFold Q3UW98
Predicted Effect probably damaging
Transcript: ENSMUST00000098549
AA Change: I387V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: I387V

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 0.1299 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.8%
Validation Efficiency 100% (79/79)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A G 12: 110,635,188 (GRCm39) S117P possibly damaging Het
Aars2 T C 17: 45,818,436 (GRCm39) probably benign Het
Acot11 T C 4: 106,607,185 (GRCm39) D466G probably damaging Het
Adgrd1 G A 5: 129,216,658 (GRCm39) A342T probably benign Het
Apbb2 A T 5: 66,459,954 (GRCm39) N714K probably benign Het
Aqp12 C A 1: 92,934,572 (GRCm39) H150N possibly damaging Het
Brinp3 T A 1: 146,558,418 (GRCm39) L114* probably null Het
Ccng2 T C 5: 93,419,148 (GRCm39) probably benign Het
Cd36 T A 5: 18,003,250 (GRCm39) R265S probably benign Het
Ces4a T C 8: 105,868,598 (GRCm39) L104S probably benign Het
Cul7 T A 17: 46,965,521 (GRCm39) H566Q probably benign Het
Ddx60 A T 8: 62,486,527 (GRCm39) H1646L possibly damaging Het
Dntt T C 19: 41,047,566 (GRCm39) I503T probably damaging Het
Dynlt1a T G 17: 6,367,670 (GRCm39) E2D probably benign Het
Efemp2 G T 19: 5,528,027 (GRCm39) C78F probably damaging Het
Esco1 T C 18: 10,594,605 (GRCm39) E227G probably benign Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm17541 A T 12: 4,739,487 (GRCm39) probably benign Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Gm4782 T G 6: 50,587,674 (GRCm39) S686R probably damaging Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Grm8 T C 6: 27,285,895 (GRCm39) Y839C probably damaging Het
Gtf3c1 G A 7: 125,243,306 (GRCm39) P1766L possibly damaging Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hes6 A T 1: 91,340,026 (GRCm39) D143E possibly damaging Het
Hmcn2 A G 2: 31,284,839 (GRCm39) E2055G probably benign Het
Hmcn2 G A 2: 31,335,365 (GRCm39) probably benign Het
Ikzf3 A G 11: 98,358,143 (GRCm39) L398P probably benign Het
Il10ra A T 9: 45,176,950 (GRCm39) I125N probably benign Het
Kcnb2 G A 1: 15,783,137 (GRCm39) probably benign Het
Krt77 T C 15: 101,777,813 (GRCm39) R81G possibly damaging Het
Lrrc40 T A 3: 157,747,298 (GRCm39) probably null Het
Man1a2 C T 3: 100,489,350 (GRCm39) R543Q probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mettl14 A T 3: 123,176,475 (GRCm39) S58T probably benign Het
Mrpl4 T C 9: 20,914,610 (GRCm39) V62A probably benign Het
Myh3 A G 11: 66,984,498 (GRCm39) D1085G possibly damaging Het
Myo5c C A 9: 75,191,498 (GRCm39) probably benign Het
Naalad2 G T 9: 18,262,239 (GRCm39) probably benign Het
Nat3 A G 8: 68,000,432 (GRCm39) T104A probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Olfm1 A G 2: 28,119,619 (GRCm39) Y403C probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Or7e177 A T 9: 20,212,454 (GRCm39) R320S probably benign Het
Osbpl1a T A 18: 13,004,220 (GRCm39) probably null Het
Pax7 G A 4: 139,507,047 (GRCm39) S330L possibly damaging Het
Pcdhb15 C A 18: 37,608,329 (GRCm39) D520E probably damaging Het
Pgm3 T C 9: 86,449,586 (GRCm39) T145A probably benign Het
Phox2b G A 5: 67,253,968 (GRCm39) probably null Het
Pik3r6 A T 11: 68,417,234 (GRCm39) R59* probably null Het
Pold1 A G 7: 44,190,449 (GRCm39) probably benign Het
Ppp1r21 T C 17: 88,876,500 (GRCm39) probably benign Het
Prl5a1 A G 13: 28,333,970 (GRCm39) K158E possibly damaging Het
Rag2 T G 2: 101,460,948 (GRCm39) C419W probably damaging Het
Reln A G 5: 22,193,774 (GRCm39) S1395P probably damaging Het
Retnlb T G 16: 48,639,022 (GRCm39) Y74* probably null Het
Robo3 A G 9: 37,333,936 (GRCm39) S633P probably damaging Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Slc6a5 C A 7: 49,588,156 (GRCm39) probably benign Het
Sort1 T A 3: 108,252,247 (GRCm39) N481K probably benign Het
Sptlc3 T A 2: 139,437,957 (GRCm39) I417K possibly damaging Het
Svil T A 18: 5,099,063 (GRCm39) probably benign Het
Taf4b T C 18: 14,946,134 (GRCm39) probably benign Het
Tchp T C 5: 114,847,394 (GRCm39) M71T possibly damaging Het
Thsd4 T A 9: 59,904,417 (GRCm39) H233L probably benign Het
Tmem217 G T 17: 29,745,573 (GRCm39) N52K possibly damaging Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Uqcrfs1 A C 13: 30,725,146 (GRCm39) N131K probably benign Het
Vars1 T A 17: 35,232,845 (GRCm39) S896R probably benign Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Wdr49 A T 3: 75,359,103 (GRCm39) I8N possibly damaging Het
Zfp648 T A 1: 154,080,632 (GRCm39) Y264N probably damaging Het
Zmym1 A C 4: 126,941,818 (GRCm39) F857V possibly damaging 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
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
R9733:Clca4b UTSW 3 144,621,272 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GGCAATGGAGTCGCAATTAGGAATCTC -3'
(R):5'- CCGTCTGAATAGAATGAACCAAGCAGC -3'

Sequencing Primer
(F):5'- tccctgtgccttgatttcc -3'
(R):5'- GCAGCAAAATACTTTCTAAGCCAG -3'
Posted On 2013-05-09