Incidental Mutation 'IGL01139:Clca4a'
ID 50791
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 # IGL01139
Quality Score
Status
Chromosome 3
Chromosomal Location 144658247-144680806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144672030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 304 (I304N)
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: I304N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: I304N

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,259 (GRCm39) Y297* probably null Het
Actr3 A T 1: 125,333,622 (GRCm39) I215N probably damaging Het
Ambn C T 5: 88,612,376 (GRCm39) probably benign Het
Arhgef1 T A 7: 24,625,376 (GRCm39) probably benign Het
Arid1a A C 4: 133,421,308 (GRCm39) S832R unknown Het
Dmxl2 G A 9: 54,366,248 (GRCm39) P274S probably damaging Het
Eif4enif1 T A 11: 3,171,143 (GRCm39) D211E probably damaging Het
Eri2 A G 7: 119,385,960 (GRCm39) probably null Het
Fhod3 C T 18: 25,199,401 (GRCm39) P691S probably benign Het
Flnb A G 14: 7,945,989 (GRCm38) S2465G probably damaging Het
Ftsj1 G A X: 8,112,831 (GRCm39) R171C probably damaging Het
Glb1l3 G A 9: 26,729,523 (GRCm39) T648I probably benign Het
Gm4222 T A 2: 89,978,889 (GRCm39) probably benign Het
Gm5475 G A 15: 100,322,096 (GRCm39) probably benign Het
Jaml C A 9: 45,012,317 (GRCm39) T268N possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Lrba A G 3: 86,549,969 (GRCm39) T217A possibly damaging Het
Ltn1 A G 16: 87,212,897 (GRCm39) S555P probably benign Het
Map3k15 T A X: 158,855,875 (GRCm39) M350K probably damaging Het
Mipol1 C A 12: 57,352,821 (GRCm39) Y53* probably null Het
Mn1 A G 5: 111,569,315 (GRCm39) D1095G probably damaging Het
Myh14 T C 7: 44,255,716 (GRCm39) probably benign Het
Nrn1 A G 13: 36,914,190 (GRCm39) C31R probably damaging Het
Nup210 A T 6: 91,007,079 (GRCm39) L579H possibly damaging Het
Nxf2 T C X: 133,851,145 (GRCm39) I578V probably benign Het
Obscn G A 11: 58,969,178 (GRCm39) A172V probably damaging Het
Or10h1b T A 17: 33,395,756 (GRCm39) Y123N probably damaging Het
Or9g4 T G 2: 85,504,841 (GRCm39) Y218S probably damaging Het
Phtf1 A G 3: 103,912,918 (GRCm39) D748G probably damaging Het
Psd3 A T 8: 68,361,187 (GRCm39) Y863N probably damaging Het
Psmc6 C T 14: 45,581,167 (GRCm39) T321I probably benign Het
Rassf6 T C 5: 90,756,825 (GRCm39) *31W probably null Het
Rictor A C 15: 6,807,749 (GRCm39) K791Q probably damaging Het
Slc12a9 C T 5: 137,321,104 (GRCm39) M470I probably damaging Het
Tex28 A T X: 73,194,830 (GRCm39) M367K possibly damaging Het
Thnsl2 A T 6: 71,115,718 (GRCm39) V163D probably damaging Het
Tmco3 G A 8: 13,369,887 (GRCm39) R633Q possibly damaging Het
Trf A T 9: 103,100,803 (GRCm39) V224D probably damaging Het
Ttc8 C T 12: 98,930,804 (GRCm39) Q273* probably null Het
Usp9x A G X: 12,970,815 (GRCm39) probably benign Het
Vmn2r117 A G 17: 23,696,778 (GRCm39) W210R probably damaging Het
Vmn2r5 A G 3: 64,398,826 (GRCm39) S718P probably benign Het
Vps13a T C 19: 16,617,989 (GRCm39) D2932G probably damaging Het
Whamm T C 7: 81,245,662 (GRCm39) L706P probably damaging Het
Yeats2 G A 16: 20,033,143 (GRCm39) V45I probably damaging Het
Yipf3 G A 17: 46,561,383 (GRCm39) probably null Het
Zeb1 T C 18: 5,705,061 (GRCm39) V26A possibly damaging Het
Other mutations in Clca4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Clca4a APN 3 144,660,700 (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
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 2013-06-21