Incidental Mutation 'R0688:Clca4a'
ID 61217
Institutional Source Beutler Lab
Gene Symbol Clca4a
Ensembl Gene ENSMUSG00000068547
Gene Name chloride channel accessory 4A
Synonyms Clca6, 9130020L07Rik
MMRRC Submission 038873-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R0688 (G1)
Quality Score 216
Status Not validated
Chromosome 3
Chromosomal Location 144658247-144680806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 144667735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 412 (L412R)
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: L412R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: L412R

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T G 9: 104,001,299 (GRCm39) V615G probably damaging Het
Apaf1 T G 10: 90,897,567 (GRCm39) E305D possibly damaging Het
Apol10b A G 15: 77,469,419 (GRCm39) S253P probably damaging Het
Bbs9 T A 9: 22,479,015 (GRCm39) C153S probably damaging Het
Bicra C T 7: 15,723,247 (GRCm39) G90D probably damaging Het
Cul3 A T 1: 80,249,281 (GRCm39) D597E possibly damaging Het
Cxcr5 A G 9: 44,424,964 (GRCm39) probably null Het
Dnah10 T C 5: 124,824,782 (GRCm39) I646T possibly damaging Het
Focad T A 4: 88,192,450 (GRCm39) V593D unknown Het
Fsip2 T A 2: 82,812,683 (GRCm39) S3001T probably benign Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gdf9 T A 11: 53,327,467 (GRCm39) L141Q probably damaging Het
Gpr180 A G 14: 118,385,596 (GRCm39) D136G probably benign Het
Hsd3b9 T C 3: 98,363,710 (GRCm39) E45G probably benign Het
Itga2 G T 13: 114,976,090 (GRCm39) A1094E probably benign Het
Ly75 C T 2: 60,146,565 (GRCm39) A1238T probably benign Het
Macc1 T C 12: 119,410,738 (GRCm39) V502A probably damaging Het
Mroh4 T C 15: 74,478,527 (GRCm39) K923E probably damaging Het
Msh3 G A 13: 92,487,939 (GRCm39) P93S possibly damaging Het
Myo18a A G 11: 77,714,966 (GRCm39) D474G probably damaging Het
Npat T A 9: 53,481,522 (GRCm39) Y1077N probably benign Het
Or4c109 A T 2: 88,817,939 (GRCm39) S202R probably damaging Het
Or6c69 T G 10: 129,747,752 (GRCm39) T132P probably damaging Het
Or6k14 A C 1: 173,927,630 (GRCm39) H202P probably damaging Het
Or8u8 A T 2: 86,011,949 (GRCm39) probably null Het
Paqr5 T G 9: 61,880,076 (GRCm39) T59P probably benign Het
Phyhipl C T 10: 70,395,085 (GRCm39) G329R probably damaging Het
Pomgnt1 T C 4: 116,013,086 (GRCm39) Y430H probably damaging Het
Pramel21 T C 4: 143,343,927 (GRCm39) F409S probably benign Het
Prkd3 A T 17: 79,264,662 (GRCm39) M651K probably damaging Het
Puf60 A T 15: 75,942,623 (GRCm39) M440K probably damaging Het
Recql4 A G 15: 76,594,009 (GRCm39) probably null Het
Sgk1 A C 10: 21,874,059 (GRCm39) M320L probably benign Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Sorbs1 T C 19: 40,351,706 (GRCm39) T235A probably damaging Het
Srrm3 A G 5: 135,898,130 (GRCm39) probably benign Het
Tex15 C T 8: 34,063,528 (GRCm39) T986I probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zswim4 T C 8: 84,955,517 (GRCm39) M301V possibly 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
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
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'- TCCTTGGCCTGACTCTTGCAAAG -3'
(R):5'- TGTGGTTGCTCACTTCACCTGG -3'

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