Incidental Mutation 'R3078:Clca4a'
ID 265281
Institutional Source Beutler Lab
Gene Symbol Clca4a
Ensembl Gene ENSMUSG00000068547
Gene Name chloride channel accessory 4A
Synonyms Clca6, 9130020L07Rik
MMRRC Submission 040568-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R3078 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 144658247-144680806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 144674014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 240 (M240I)
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: M240I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: M240I

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: ENSMUST00000198898
Meta Mutation Damage Score 0.7162 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 93% (42/45)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,306,764 (GRCm39) I1981V probably benign Het
Actr3b A G 5: 26,027,440 (GRCm39) Y37C probably damaging Het
Adgrd1 A T 5: 129,206,169 (GRCm39) I248F probably benign Het
Alg10b T C 15: 90,112,139 (GRCm39) S328P probably benign Het
C5ar2 G A 7: 15,971,349 (GRCm39) R193C probably damaging Het
Cct8 A G 16: 87,285,765 (GRCm39) V231A possibly damaging Het
Cmya5 A T 13: 93,185,435 (GRCm39) I3520N probably damaging Het
Dock6 G T 9: 21,757,050 (GRCm39) probably benign Het
Dynlrb1 T A 2: 155,091,865 (GRCm39) I99N probably damaging Het
Ebf4 G A 2: 130,148,419 (GRCm39) D77N probably damaging Het
Fbxw10 C T 11: 62,758,339 (GRCm39) probably benign Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gm5499 T C 17: 87,386,314 (GRCm39) noncoding transcript Het
Gm9913 A G 2: 125,348,459 (GRCm39) probably benign Het
Herc2 A G 7: 55,786,991 (GRCm39) N1612S probably benign Het
Ifnar2 T C 16: 91,182,889 (GRCm39) S53P possibly damaging Het
Inpp5j T A 11: 3,453,124 (GRCm39) probably null Het
Insyn2a A G 7: 134,519,750 (GRCm39) I260T probably benign Het
Iqca1l G C 5: 24,751,664 (GRCm39) T528S probably benign Het
Kif14 T G 1: 136,447,383 (GRCm39) I1396S possibly damaging Het
Med28 A G 5: 45,679,820 (GRCm39) T68A possibly damaging Het
Meis1 A T 11: 18,961,254 (GRCm39) N206K probably benign Het
Mfsd14a T C 3: 116,441,566 (GRCm39) probably benign Het
Mnt G C 11: 74,733,936 (GRCm39) probably benign Het
Mto1 A G 9: 78,365,310 (GRCm39) Y413C probably damaging Het
Myo7b T C 18: 32,100,237 (GRCm39) D1599G probably benign Het
Myoz1 T C 14: 20,703,685 (GRCm39) probably benign Het
Nhsl2 C T X: 101,121,201 (GRCm39) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm39) Y306N probably damaging Het
Nrxn3 T G 12: 89,227,186 (GRCm39) C274G probably damaging Het
Or1e29 G A 11: 73,667,466 (GRCm39) P229L possibly damaging Het
Or5ac22 A T 16: 59,135,089 (GRCm39) M227K probably benign Het
Phldb2 T C 16: 45,645,373 (GRCm39) T403A probably benign Het
Plaa T C 4: 94,458,042 (GRCm39) I643V probably benign Het
Slc28a2b T C 2: 122,344,895 (GRCm39) L167P possibly damaging Het
Stau1 T C 2: 166,796,936 (GRCm39) I154V possibly damaging Het
Ugcg T G 4: 59,213,922 (GRCm39) V168G probably damaging Het
Vmn2r2 T C 3: 64,042,053 (GRCm39) I221V probably benign Het
Wdr93 T C 7: 79,402,241 (GRCm39) I180T possibly damaging Het
Whamm G C 7: 81,221,532 (GRCm39) G155R probably damaging Het
Wnt5a T A 14: 28,235,140 (GRCm39) Y41* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CCAAATATGCATGCTCAAGTAAAGTCC -3'
(R):5'- ATATCTTGCCACAAAGCTCAGTG -3'

Sequencing Primer
(F):5'- GGGTATCAGTCAATGTTCAATGGAC -3'
(R):5'- TGGGAGCAGGGCCACTTTTC -3'
Posted On 2015-02-05