Incidental Mutation 'IGL01998:Clca4a'
ID 182951
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 # IGL01998
Quality Score
Status
Chromosome 3
Chromosomal Location 144658247-144680806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144663887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 519 (T519A)
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: T519A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: T519A

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Cab39l T A 14: 59,734,344 (GRCm39) L21Q probably damaging Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Fv1 T C 4: 147,953,784 (GRCm39) C117R possibly damaging Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Ncapd2 A T 6: 125,146,896 (GRCm39) L1230H probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Nrg1 T C 8: 32,408,162 (GRCm39) S24G probably damaging Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or2t48 A T 11: 58,420,403 (GRCm39) Y136* probably null Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Rxfp1 T C 3: 79,567,403 (GRCm39) K316E probably benign Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Spock1 A T 13: 57,583,994 (GRCm39) probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Tmem59l C T 8: 70,937,431 (GRCm39) V239I probably benign Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R 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
IGL02172:Clca4a APN 3 144,676,155 (GRCm39) nonsense probably null
IGL02217:Clca4a APN 3 144,667,757 (GRCm39) missense possibly damaging 0.61
IGL02514:Clca4a APN 3 144,660,832 (GRCm39) missense probably damaging 1.00
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 2014-05-07