Incidental Mutation 'IGL02975:Clca4a'
ID 406340
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
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock # IGL02975
Quality Score
Status
Chromosome 3
Chromosomal Location 144952480-144975045 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 144963769 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 340 (I340M)
Ref Sequence ENSEMBL: ENSMUSP00000029923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029923]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029923
AA Change: I340M

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: I340M

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,925 D326G possibly damaging Het
Ago4 C T 4: 126,512,519 probably null Het
Ank A G 15: 27,467,001 probably benign Het
Ankmy2 C A 12: 36,193,774 S329R possibly damaging Het
Aox1 A G 1: 58,068,391 E608G probably damaging Het
Btbd11 A G 10: 85,631,343 I721V probably benign Het
Car1 G A 3: 14,777,822 L48F probably benign Het
Cct8 A G 16: 87,486,230 probably benign Het
Clasp1 A T 1: 118,462,547 T154S probably damaging Het
Cnksr3 C T 10: 7,138,354 probably null Het
Cntrob T C 11: 69,319,373 T265A possibly damaging Het
Ddx5 T C 11: 106,781,885 I605V probably benign Het
Eif3i A G 4: 129,595,312 Y70H probably damaging Het
Epb41l5 T C 1: 119,579,081 probably benign Het
Fah A T 7: 84,601,079 S90T probably benign Het
Fat2 T A 11: 55,270,194 M3237L probably benign Het
Fbxw8 A G 5: 118,077,695 Y417H probably benign Het
Fmnl2 C A 2: 53,101,482 F336L probably benign Het
Gli3 A G 13: 15,724,568 R847G probably damaging Het
Gm17509 T C 13: 117,220,772 probably benign Het
Gm4846 T A 1: 166,483,880 Y470F possibly damaging Het
Gm7461 T C 8: 4,677,847 noncoding transcript Het
Gpatch4 A T 3: 88,054,436 N134I possibly damaging Het
Grina A G 15: 76,248,985 Y251C probably damaging Het
Gsn A G 2: 35,304,654 D654G probably benign Het
Hyal5 A G 6: 24,891,452 T422A probably benign Het
Iars T A 13: 49,704,849 I377N probably damaging Het
Ints3 A T 3: 90,401,837 probably benign Het
Kdm4b G A 17: 56,375,996 probably null Het
Kyat1 A G 2: 30,186,675 S276P probably damaging Het
Lrrc1 A G 9: 77,452,647 C288R probably damaging Het
Mst1r T A 9: 107,913,180 M664K probably benign Het
Neb A T 2: 52,298,867 I817N probably damaging Het
Nudt6 C A 3: 37,419,518 G18V probably damaging Het
Olfr1302 T A 2: 111,780,921 Y200* probably null Het
Olfr517 G A 7: 108,868,855 Q100* probably null Het
Olfr57 T C 10: 79,035,033 V79A possibly damaging Het
Pde1c A G 6: 56,158,936 I341T probably damaging Het
Pgm5 T C 19: 24,834,848 I107V probably benign Het
Pot1b G A 17: 55,662,454 probably benign Het
Prkca C T 11: 108,340,677 W58* probably null Het
Slc12a9 T C 5: 137,322,443 K555R probably damaging Het
Smoc2 A T 17: 14,336,610 Q107L probably damaging Het
Sytl1 T A 4: 133,261,032 R4S probably benign Het
Tbc1d4 A G 14: 101,458,113 L963P probably damaging Het
Tfdp2 G A 9: 96,317,936 probably benign Het
Tmem63a A T 1: 180,961,075 M326L probably benign Het
Vmn2r66 A G 7: 85,006,974 L278P probably damaging Het
Wtap A G 17: 12,983,511 V11A possibly damaging Het
Zcchc9 A T 13: 91,806,053 S28T possibly damaging Het
Zfp12 C T 5: 143,244,059 probably benign Het
Other mutations in Clca4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Clca4a APN 3 144954939 missense probably damaging 0.99
IGL01139:Clca4a APN 3 144966269 missense probably damaging 0.99
IGL01371:Clca4a APN 3 144960672 missense probably damaging 1.00
IGL01609:Clca4a APN 3 144953780 missense probably damaging 1.00
IGL01998:Clca4a APN 3 144958126 missense probably damaging 0.98
IGL02172:Clca4a APN 3 144970394 nonsense probably null
IGL02217:Clca4a APN 3 144961996 missense possibly damaging 0.61
IGL02514:Clca4a APN 3 144955071 missense probably damaging 1.00
IGL03025:Clca4a APN 3 144957318 missense probably benign 0.07
IGL03049:Clca4a APN 3 144970755 splice site probably benign
IGL03058:Clca4a APN 3 144961834 splice site probably benign
IGL03259:Clca4a APN 3 144958080 missense probably damaging 1.00
IGL03263:Clca4a APN 3 144966431 missense probably damaging 1.00
IGL03334:Clca4a APN 3 144953866 missense probably benign 0.28
PIT4142001:Clca4a UTSW 3 144968311 missense probably damaging 1.00
R0201:Clca4a UTSW 3 144960717 missense probably benign 0.00
R0316:Clca4a UTSW 3 144953764 missense probably damaging 1.00
R0524:Clca4a UTSW 3 144969393 missense probably damaging 1.00
R0680:Clca4a UTSW 3 144969367 missense probably damaging 1.00
R0688:Clca4a UTSW 3 144961974 missense probably damaging 1.00
R1137:Clca4a UTSW 3 144970685 missense probably damaging 1.00
R1568:Clca4a UTSW 3 144952929 missense probably benign 0.00
R1719:Clca4a UTSW 3 144963755 missense probably damaging 1.00
R2055:Clca4a UTSW 3 144970728 missense probably damaging 1.00
R3078:Clca4a UTSW 3 144968253 missense probably damaging 0.99
R3080:Clca4a UTSW 3 144963790 missense probably damaging 1.00
R3789:Clca4a UTSW 3 144974956 missense probably damaging 1.00
R3881:Clca4a UTSW 3 144957318 missense probably benign 0.07
R4133:Clca4a UTSW 3 144969352 missense probably benign 0.07
R4402:Clca4a UTSW 3 144952848 missense probably benign 0.08
R4455:Clca4a UTSW 3 144957259 missense probably damaging 1.00
R4577:Clca4a UTSW 3 144954969 missense probably damaging 0.97
R4683:Clca4a UTSW 3 144954940 missense probably damaging 1.00
R5135:Clca4a UTSW 3 144954946 missense probably damaging 1.00
R5267:Clca4a UTSW 3 144953812 missense probably damaging 1.00
R5345:Clca4a UTSW 3 144970461 missense probably damaging 1.00
R6311:Clca4a UTSW 3 144966413 missense probably damaging 0.99
R6492:Clca4a UTSW 3 144957298 missense probably benign 0.00
R6493:Clca4a UTSW 3 144957298 missense probably benign 0.00
R6494:Clca4a UTSW 3 144957298 missense probably benign 0.00
R6861:Clca4a UTSW 3 144970655 missense probably benign
R7102:Clca4a UTSW 3 144961909 missense probably benign 0.01
R7133:Clca4a UTSW 3 144961890 nonsense probably null
R7171:Clca4a UTSW 3 144958173 missense probably benign
R7516:Clca4a UTSW 3 144966248 missense probably damaging 1.00
R7642:Clca4a UTSW 3 144953751 missense probably benign 0.11
R7731:Clca4a UTSW 3 144952785 missense probably benign 0.02
R7787:Clca4a UTSW 3 144953833 missense probably benign
R7820:Clca4a UTSW 3 144960671 missense probably damaging 1.00
R7895:Clca4a UTSW 3 144968405 missense probably benign 0.19
R7991:Clca4a UTSW 3 144952739 missense possibly damaging 0.75
R8240:Clca4a UTSW 3 144970727 missense probably damaging 1.00
R9308:Clca4a UTSW 3 144970422 missense probably damaging 1.00
R9373:Clca4a UTSW 3 144966372 missense possibly damaging 0.66
R9488:Clca4a UTSW 3 144953771 missense probably damaging 1.00
R9772:Clca4a UTSW 3 144970661 missense probably damaging 1.00
R9781:Clca4a UTSW 3 144961952 missense probably benign 0.01
Posted On 2016-08-02