Incidental Mutation 'R0680:Clca4a'
ID 61739
Institutional Source Beutler Lab
Gene Symbol Clca4a
Ensembl Gene ENSMUSG00000068547
Gene Name chloride channel accessory 4A
Synonyms Clca6, 9130020L07Rik
MMRRC Submission 038865-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R0680 (G1)
Quality Score 129
Status Not validated
Chromosome 3
Chromosomal Location 144658247-144680806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144675128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 167 (F167L)
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: F167L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: F167L

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col6a3 T C 1: 90,706,703 (GRCm39) M2137V unknown Het
Dennd2a A T 6: 39,459,996 (GRCm39) L703Q probably damaging Het
Fsip2 T A 2: 82,821,703 (GRCm39) I5812N possibly damaging Het
Gen1 T A 12: 11,291,870 (GRCm39) S640C probably benign Het
Il9 T C 13: 56,629,693 (GRCm39) T61A probably benign Het
Lrp1 A G 10: 127,425,530 (GRCm39) L700P probably damaging Het
Lyst G A 13: 13,824,926 (GRCm39) V1514I probably benign Het
Med1 A T 11: 98,070,992 (GRCm39) probably null Het
Or14a257 A T 7: 86,138,545 (GRCm39) F71L probably benign Het
Or4c11c A T 2: 88,662,124 (GRCm39) Y221F probably benign Het
Or52n2 A G 7: 104,542,211 (GRCm39) I208T probably benign Het
Or6c69b T A 10: 129,626,687 (GRCm39) Y257F probably damaging Het
Pcdhb18 G C 18: 37,623,347 (GRCm39) A226P probably damaging Het
Pirb T A 7: 3,720,360 (GRCm39) N338Y possibly damaging Het
Rc3h2 A C 2: 37,289,847 (GRCm39) I360R probably damaging Het
Rnf139 T C 15: 58,771,501 (GRCm39) Y509H probably damaging Het
Shisa7 T A 7: 4,834,722 (GRCm39) D279V probably benign Het
Shoc1 T C 4: 59,043,967 (GRCm39) D1449G probably benign Het
Slc6a3 T C 13: 73,686,846 (GRCm39) L71P probably damaging Het
Slc9a5 T A 8: 106,082,539 (GRCm39) L268Q probably null Het
St7 T C 6: 17,942,732 (GRCm39) S563P probably damaging Het
Stx1b A G 7: 127,406,895 (GRCm39) V240A possibly damaging Het
Sugt1 A G 14: 79,847,751 (GRCm39) I200M possibly damaging Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Tut7 G A 13: 59,948,413 (GRCm39) T636I possibly damaging Het
Ube4a T A 9: 44,859,358 (GRCm39) Q380L probably damaging Het
Ugt1a2 A G 1: 88,128,933 (GRCm39) Y192C probably damaging Het
Ulbp3 T A 10: 3,075,133 (GRCm39) noncoding transcript Het
Unc93b1 G A 19: 3,997,093 (GRCm39) V505I probably benign Het
Usp29 T C 7: 6,965,884 (GRCm39) S576P possibly damaging Het
Vcan A T 13: 89,827,941 (GRCm39) H2208Q probably damaging Het
Zfp106 T A 2: 120,357,497 (GRCm39) S1133C probably damaging Het
Zfp148 A G 16: 33,316,174 (GRCm39) D282G possibly damaging Het
Zswim9 A C 7: 12,994,248 (GRCm39) V636G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GTCATTGTCTTCAAGGAGAATGCCCTAA -3'
(R):5'- CCTTTGACACGCCAAGAACTGAAAATC -3'

Sequencing Primer
(F):5'- TTCAAGGAGAATGCCCTAAAATAAGC -3'
(R):5'- tctttctcttcccctctcttttc -3'
Posted On 2013-07-30