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) question?
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

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: 99.9%
  • 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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