Incidental Mutation 'IGL02514:Clca4a'
ID 296679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clca4a
Ensembl Gene ENSMUSG00000068547
Gene Name chloride channel accessory 4A
Synonyms Clca6, 9130020L07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # IGL02514
Quality Score
Status
Chromosome 3
Chromosomal Location 144658247-144680806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144660832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 664 (S664F)
Ref Sequence ENSEMBL: ENSMUSP00000029923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029923]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029923
AA Change: S664F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: S664F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 286 300 N/A INTRINSIC
VWA 306 480 5.94e-16 SMART
Blast:VWA 513 552 7e-18 BLAST
Blast:FN3 757 838 8e-33 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136170
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,779,909 (GRCm39) C114* probably null Het
4933421I07Rik A G 7: 42,096,981 (GRCm39) M110T probably damaging Het
Amer1 A G X: 94,470,117 (GRCm39) V667A possibly damaging Het
Casr C T 16: 36,320,687 (GRCm39) G487E probably damaging Het
Catsperd G A 17: 56,968,271 (GRCm39) G552D probably damaging Het
Ceacam3 A G 7: 16,896,906 (GRCm39) D624G possibly damaging Het
Celsr2 A G 3: 108,304,826 (GRCm39) V2208A probably benign Het
Cibar1 T G 4: 12,164,080 (GRCm39) probably benign Het
Ddx23 A T 15: 98,556,199 (GRCm39) S40T unknown Het
Dhodh G A 8: 110,332,896 (GRCm39) R58* probably null Het
Dhx36 A G 3: 62,408,319 (GRCm39) L173S possibly damaging Het
Dnaaf5 C T 5: 139,159,872 (GRCm39) probably benign Het
Dnah3 T C 7: 119,565,470 (GRCm39) D2546G probably damaging Het
Eef2 T G 10: 81,015,427 (GRCm39) I316S probably benign Het
Efcab6 T C 15: 83,917,143 (GRCm39) D139G possibly damaging Het
Efcab6 A T 15: 83,755,512 (GRCm39) probably benign Het
Eif4g3 T A 4: 137,853,505 (GRCm39) I357N possibly damaging Het
Elovl2 G A 13: 41,348,247 (GRCm39) T44M probably benign Het
Fbln1 T A 15: 85,128,463 (GRCm39) C553* probably null Het
Fip1l1 T C 5: 74,731,813 (GRCm39) V310A probably damaging Het
Gast A G 11: 100,227,718 (GRCm39) D100G probably benign Het
Gk G A X: 84,756,970 (GRCm39) probably benign Het
Gm1330 G A 2: 148,841,305 (GRCm39) probably benign Het
Hspg2 C A 4: 137,296,887 (GRCm39) T4355K probably benign Het
Ipo7 T C 7: 109,648,035 (GRCm39) V639A possibly damaging Het
Lrrc7 T C 3: 157,865,929 (GRCm39) M1271V probably damaging Het
Msantd1 T A 5: 35,078,887 (GRCm39) S141T probably damaging Het
Myo9b T C 8: 71,743,650 (GRCm39) I237T probably damaging Het
Or10ag59 G A 2: 87,405,537 (GRCm39) M36I probably benign Het
Or13a21 A T 7: 139,999,507 (GRCm39) Y60N probably damaging Het
Or2w3 T C 11: 58,556,469 (GRCm39) F28S probably damaging Het
Or4k40 A C 2: 111,251,117 (GRCm39) Y60D probably damaging Het
Pan2 A T 10: 128,146,610 (GRCm39) M416L possibly damaging Het
Pank4 T C 4: 155,054,922 (GRCm39) F209L probably damaging Het
Pcdhb13 A T 18: 37,576,044 (GRCm39) I141L possibly damaging Het
Pik3r2 A G 8: 71,223,236 (GRCm39) Y422H probably benign Het
Pramel14 T C 4: 143,719,772 (GRCm39) K198E probably benign Het
Prdm4 A T 10: 85,743,781 (GRCm39) I158N probably damaging Het
Prl T G 13: 27,243,377 (GRCm39) L14R probably damaging Het
Rabl6 C A 2: 25,498,188 (GRCm39) A23S probably damaging Het
Rbm15b T A 9: 106,762,176 (GRCm39) H664L probably damaging Het
Rhobtb1 T A 10: 69,125,471 (GRCm39) H618Q probably benign Het
Slc15a1 T C 14: 121,724,452 (GRCm39) K140R probably damaging Het
Slc6a17 A G 3: 107,402,993 (GRCm39) S145P possibly damaging Het
Snx31 T C 15: 36,525,728 (GRCm39) T324A probably damaging Het
Spatc1l T C 10: 76,405,490 (GRCm39) probably benign Het
Taar7b A G 10: 23,876,882 (GRCm39) N349S probably benign Het
Tbx19 T C 1: 164,981,273 (GRCm39) I74V probably benign Het
Tmtc2 G A 10: 105,025,960 (GRCm39) T836I possibly damaging Het
Vmn2r72 C A 7: 85,387,907 (GRCm39) M552I possibly damaging Het
Vsig10l A G 7: 43,113,338 (GRCm39) T199A probably benign Het
Washc4 A T 10: 83,405,947 (GRCm39) E481V probably damaging Het
Zc3h15 T A 2: 83,483,725 (GRCm39) N33K probably damaging Het
Other mutations in Clca4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Clca4a APN 3 144,660,700 (GRCm39) missense probably damaging 0.99
IGL01139:Clca4a APN 3 144,672,030 (GRCm39) missense probably damaging 0.99
IGL01371:Clca4a APN 3 144,666,433 (GRCm39) missense probably damaging 1.00
IGL01609:Clca4a APN 3 144,659,541 (GRCm39) missense probably damaging 1.00
IGL01998:Clca4a APN 3 144,663,887 (GRCm39) missense probably damaging 0.98
IGL02172:Clca4a APN 3 144,676,155 (GRCm39) nonsense probably null
IGL02217:Clca4a APN 3 144,667,757 (GRCm39) missense possibly damaging 0.61
IGL02975:Clca4a APN 3 144,669,530 (GRCm39) missense possibly damaging 0.90
IGL03025:Clca4a APN 3 144,663,079 (GRCm39) missense probably benign 0.07
IGL03049:Clca4a APN 3 144,676,516 (GRCm39) splice site probably benign
IGL03058:Clca4a APN 3 144,667,595 (GRCm39) splice site probably benign
IGL03259:Clca4a APN 3 144,663,841 (GRCm39) missense probably damaging 1.00
IGL03263:Clca4a APN 3 144,672,192 (GRCm39) missense probably damaging 1.00
IGL03334:Clca4a APN 3 144,659,627 (GRCm39) missense probably benign 0.28
PIT4142001:Clca4a UTSW 3 144,674,072 (GRCm39) missense probably damaging 1.00
R0201:Clca4a UTSW 3 144,666,478 (GRCm39) missense probably benign 0.00
R0316:Clca4a UTSW 3 144,659,525 (GRCm39) missense probably damaging 1.00
R0524:Clca4a UTSW 3 144,675,154 (GRCm39) missense probably damaging 1.00
R0680:Clca4a UTSW 3 144,675,128 (GRCm39) missense probably damaging 1.00
R0688:Clca4a UTSW 3 144,667,735 (GRCm39) missense probably damaging 1.00
R1137:Clca4a UTSW 3 144,676,446 (GRCm39) missense probably damaging 1.00
R1568:Clca4a UTSW 3 144,658,690 (GRCm39) missense probably benign 0.00
R1719:Clca4a UTSW 3 144,669,516 (GRCm39) missense probably damaging 1.00
R2055:Clca4a UTSW 3 144,676,489 (GRCm39) missense probably damaging 1.00
R3078:Clca4a UTSW 3 144,674,014 (GRCm39) missense probably damaging 0.99
R3080:Clca4a UTSW 3 144,669,551 (GRCm39) missense probably damaging 1.00
R3789:Clca4a UTSW 3 144,680,717 (GRCm39) missense probably damaging 1.00
R3881:Clca4a UTSW 3 144,663,079 (GRCm39) missense probably benign 0.07
R4133:Clca4a UTSW 3 144,675,113 (GRCm39) missense probably benign 0.07
R4402:Clca4a UTSW 3 144,658,609 (GRCm39) missense probably benign 0.08
R4455:Clca4a UTSW 3 144,663,020 (GRCm39) missense probably damaging 1.00
R4577:Clca4a UTSW 3 144,660,730 (GRCm39) missense probably damaging 0.97
R4683:Clca4a UTSW 3 144,660,701 (GRCm39) missense probably damaging 1.00
R5135:Clca4a UTSW 3 144,660,707 (GRCm39) missense probably damaging 1.00
R5267:Clca4a UTSW 3 144,659,573 (GRCm39) missense probably damaging 1.00
R5345:Clca4a UTSW 3 144,676,222 (GRCm39) missense probably damaging 1.00
R6311:Clca4a UTSW 3 144,672,174 (GRCm39) missense probably damaging 0.99
R6492:Clca4a UTSW 3 144,663,059 (GRCm39) missense probably benign 0.00
R6493:Clca4a UTSW 3 144,663,059 (GRCm39) missense probably benign 0.00
R6494:Clca4a UTSW 3 144,663,059 (GRCm39) missense probably benign 0.00
R6861:Clca4a UTSW 3 144,676,416 (GRCm39) missense probably benign
R7102:Clca4a UTSW 3 144,667,670 (GRCm39) missense probably benign 0.01
R7133:Clca4a UTSW 3 144,667,651 (GRCm39) nonsense probably null
R7171:Clca4a UTSW 3 144,663,934 (GRCm39) missense probably benign
R7516:Clca4a UTSW 3 144,672,009 (GRCm39) missense probably damaging 1.00
R7642:Clca4a UTSW 3 144,659,512 (GRCm39) missense probably benign 0.11
R7731:Clca4a UTSW 3 144,658,546 (GRCm39) missense probably benign 0.02
R7787:Clca4a UTSW 3 144,659,594 (GRCm39) missense probably benign
R7820:Clca4a UTSW 3 144,666,432 (GRCm39) missense probably damaging 1.00
R7895:Clca4a UTSW 3 144,674,166 (GRCm39) missense probably benign 0.19
R7991:Clca4a UTSW 3 144,658,500 (GRCm39) missense possibly damaging 0.75
R8240:Clca4a UTSW 3 144,676,488 (GRCm39) missense probably damaging 1.00
R9308:Clca4a UTSW 3 144,676,183 (GRCm39) missense probably damaging 1.00
R9373:Clca4a UTSW 3 144,672,133 (GRCm39) missense possibly damaging 0.66
R9488:Clca4a UTSW 3 144,659,532 (GRCm39) missense probably damaging 1.00
R9772:Clca4a UTSW 3 144,676,422 (GRCm39) missense probably damaging 1.00
R9781:Clca4a UTSW 3 144,667,713 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16