Incidental Mutation 'R1603:Clca4b'
ID 176240
Institutional Source Beutler Lab
Gene Symbol Clca4b
Ensembl Gene ENSMUSG00000074195
Gene Name chloride channel accessory 4B
Synonyms AI747448
MMRRC Submission 039640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1603 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 144616682-144638290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144627780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 397 (V397A)
Ref Sequence ENSEMBL: ENSMUSP00000096149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098549]
AlphaFold Q3UW98
Predicted Effect probably benign
Transcript: ENSMUST00000098549
AA Change: V397A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: V397A

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 0.3971 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 96% (65/68)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,777,546 (GRCm39) S169N probably benign Het
Ace T A 11: 105,862,925 (GRCm39) S315R probably benign Het
Adamtsl1 A G 4: 86,333,767 (GRCm39) I1491V probably benign Het
Adrb2 A T 18: 62,312,579 (GRCm39) M82K probably damaging Het
Aebp2 A G 6: 140,587,979 (GRCm39) N350D probably damaging Het
Ankrd42 T C 7: 92,268,899 (GRCm39) probably benign Het
Asap1 A T 15: 64,001,106 (GRCm39) C492S probably damaging Het
Atp8b3 C A 10: 80,361,619 (GRCm39) A768S probably benign Het
Chga T A 12: 102,530,866 (GRCm39) probably null Het
Cntnap5a A C 1: 116,339,831 (GRCm39) T697P possibly damaging Het
Col12a1 T C 9: 79,520,244 (GRCm39) Q2810R probably damaging Het
Dchs1 G T 7: 105,411,977 (GRCm39) R1380S probably benign Het
Dgkg T A 16: 22,388,909 (GRCm39) probably benign Het
Dlgap3 G A 4: 127,089,021 (GRCm39) G206R probably damaging Het
Dnah5 A G 15: 28,295,131 (GRCm39) probably benign Het
Dnah5 A T 15: 28,449,326 (GRCm39) I4243L probably benign Het
Eif1ad16 C A 12: 87,985,134 (GRCm39) E136D probably benign Het
Fbxw22 G T 9: 109,207,915 (GRCm39) P452H probably benign Het
Fgl1 T A 8: 41,650,055 (GRCm39) D242V probably damaging Het
Gba2 C T 4: 43,567,823 (GRCm39) G794R probably damaging Het
Gimap7 A T 6: 48,700,864 (GRCm39) D150V probably damaging Het
Gm5334 T C 7: 68,268,620 (GRCm39) V13A probably benign Het
Grk5 T C 19: 61,057,800 (GRCm39) F167L probably benign Het
Ice1 A G 13: 70,751,472 (GRCm39) L1538P probably benign Het
Idh2 T G 7: 79,748,906 (GRCm39) E125A probably damaging Het
Kmt2a A T 9: 44,752,858 (GRCm39) probably null Het
Kras A T 6: 145,170,871 (GRCm39) L168* probably null Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Mak T C 13: 41,195,582 (GRCm39) D377G possibly damaging Het
Matn2 T C 15: 34,388,914 (GRCm39) C335R probably damaging Het
Mcoln2 C T 3: 145,885,977 (GRCm39) S276F probably damaging Het
Morc3 C A 16: 93,663,391 (GRCm39) N531K probably benign Het
Obp2a G A 2: 25,592,757 (GRCm39) S175N probably benign Het
Or2ak6 T C 11: 58,593,286 (GRCm39) V253A probably benign Het
Or4n4b T G 14: 50,536,491 (GRCm39) I92L possibly damaging Het
Or5an1b A T 19: 12,299,348 (GRCm39) V281E probably damaging Het
Osbpl3 C A 6: 50,300,073 (GRCm39) K510N probably damaging Het
Pcnx2 G A 8: 126,566,365 (GRCm39) S1026F probably damaging Het
Pom121l2 A T 13: 22,167,514 (GRCm39) D595V probably damaging Het
Poteg T A 8: 27,938,033 (GRCm39) M1K probably null Het
Rbl1 G A 2: 157,017,579 (GRCm39) L547F possibly damaging Het
Rpap3 T C 15: 97,599,002 (GRCm39) T82A possibly damaging Het
Sema7a G A 9: 57,867,959 (GRCm39) D512N probably benign Het
Sgpl1 C T 10: 60,941,230 (GRCm39) V294M possibly damaging Het
Slc22a28 A G 19: 8,040,674 (GRCm39) S526P probably damaging Het
Spata31e2 T A 1: 26,724,650 (GRCm39) R177W probably damaging Het
Tent2 G A 13: 93,312,073 (GRCm39) A209V probably benign Het
Trim30b T G 7: 104,015,019 (GRCm39) Q123P possibly damaging Het
Trpm5 A G 7: 142,638,946 (GRCm39) L275P probably benign Het
Ttc33 A G 15: 5,219,275 (GRCm39) E71G probably damaging Het
Unc13d T C 11: 115,964,481 (GRCm39) T288A possibly damaging Het
Unc93a T A 17: 13,328,521 (GRCm39) E444V probably benign Het
Usf3 T A 16: 44,038,535 (GRCm39) M1005K probably benign Het
Vmn2r91 T C 17: 18,326,405 (GRCm39) I230T probably benign Het
Wdr49 G A 3: 75,304,177 (GRCm39) Q448* probably null Het
Zfp939 T A 7: 39,122,695 (GRCm39) noncoding transcript 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
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'- TACAGCTAAGTCAGCCGATGGTCC -3'
(R):5'- GCTAGTGTGGTTGCTCATTGCACC -3'

Sequencing Primer
(F):5'- CGATGGTCCCAAGGCAATG -3'
(R):5'- AAATTATCCCCTGTATTTTGGGGAG -3'
Posted On 2014-04-24