Incidental Mutation 'R3981:Clca4b'
ID 351156
Institutional Source Beutler Lab
Gene Symbol Clca4b
Ensembl Gene ENSMUSG00000074195
Gene Name chloride channel accessory 4B
Synonyms AI747448
MMRRC Submission 040943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3981 (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 144631797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 236 (K236R)
Ref Sequence ENSEMBL: ENSMUSP00000096149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098549]
AlphaFold Q3UW98
Predicted Effect probably benign
Transcript: ENSMUST00000098549
AA Change: K236R

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: K236R

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 0.1278 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (58/59)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,482,407 (GRCm39) C4313G probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bhlhe22 G T 3: 18,109,058 (GRCm39) R36L probably damaging Het
Cacnb2 A G 2: 14,609,314 (GRCm39) E18G probably benign Het
Cct2 G A 10: 116,890,040 (GRCm39) P10L probably damaging Het
Cep295 G T 9: 15,228,363 (GRCm39) probably benign Het
Cep89 A G 7: 35,137,808 (GRCm39) R731G probably damaging Het
Chrnb3 C T 8: 27,884,034 (GRCm39) T257M probably damaging Het
Clca3a1 T A 3: 144,461,070 (GRCm39) T194S probably benign Het
Col18a1 C A 10: 76,924,721 (GRCm39) D23Y probably damaging Het
Cry1 A T 10: 84,982,456 (GRCm39) Y297N probably damaging Het
Defb38 A G 8: 19,076,483 (GRCm39) probably null Het
Dlgap1 A G 17: 70,823,780 (GRCm39) K255R probably damaging Het
Erich6 T C 3: 58,544,125 (GRCm39) E154G probably benign Het
Esf1 G A 2: 140,000,476 (GRCm39) P437S probably benign Het
Fkbp7 A C 2: 76,493,601 (GRCm39) N197K probably damaging Het
Fsip2 T A 2: 82,789,006 (GRCm39) D342E probably benign Het
Gbx1 T C 5: 24,731,213 (GRCm39) D201G probably benign Het
Gm15056 T A 8: 21,390,957 (GRCm39) K25N possibly damaging Het
Grb7 T G 11: 98,345,391 (GRCm39) probably benign Het
H2-M3 C T 17: 37,582,021 (GRCm39) A159V probably damaging Het
Hcar1 T C 5: 124,016,683 (GRCm39) N336S probably benign Het
Ift122 T C 6: 115,890,882 (GRCm39) V807A probably benign Het
Maml2 T C 9: 13,532,364 (GRCm39) V526A possibly damaging Het
Map3k20 C T 2: 72,268,571 (GRCm39) T526I probably damaging Het
Mfap2 A G 4: 140,741,554 (GRCm39) Q71R possibly damaging Het
Mmd2 T C 5: 142,550,554 (GRCm39) Y228C probably damaging Het
Mme T A 3: 63,235,485 (GRCm39) Y178N probably damaging Het
Mras T C 9: 99,293,469 (GRCm39) D57G probably damaging Het
Muc5ac T C 7: 141,367,512 (GRCm39) C2274R possibly damaging Het
Or8j3c T A 2: 86,253,186 (GRCm39) Y278F probably damaging Het
Palmd T C 3: 116,717,472 (GRCm39) T342A probably benign Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rdh19 A G 10: 127,686,017 (GRCm39) N43S probably benign Het
Ros1 G A 10: 51,996,974 (GRCm39) H1233Y possibly damaging Het
Samd8 A G 14: 21,830,248 (GRCm39) R225G probably null Het
Slc7a11 C A 3: 50,382,223 (GRCm39) V175L probably benign Het
Spata31d1c A G 13: 65,182,925 (GRCm39) T156A possibly damaging Het
Spata31g1 C T 4: 42,971,534 (GRCm39) T289I probably damaging Het
Spmip9 T C 6: 70,890,283 (GRCm39) N170D possibly damaging Het
Stxbp5 T C 10: 9,665,060 (GRCm39) probably benign Het
Tec T A 5: 72,980,942 (GRCm39) probably benign Het
Vps16 T C 2: 130,284,514 (GRCm39) W728R possibly damaging Het
Xirp1 T C 9: 119,846,810 (GRCm39) E691G probably damaging Het
Zfp605 T C 5: 110,275,604 (GRCm39) S241P probably damaging Het
Zfp839 G A 12: 110,832,765 (GRCm39) G561D 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
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'- CTCAGGTATAACACTTGCCTAGC -3'
(R):5'- TCGTGCCACAAAGCTCAGTG -3'

Sequencing Primer
(F):5'- ccatcatcatcatcatGGTT -3'
(R):5'- TGGGAGCAGGACCACTTTTC -3'
Posted On 2015-10-08