Incidental Mutation 'IGL01019:Clca3a2'
ID53493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clca3a2
Ensembl Gene ENSMUSG00000028262
Gene Namechloride channel accessory 3A2
SynonymsClca2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL01019
Quality Score
Status
Chromosome3
Chromosomal Location144796559-144819494 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 144813627 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 263 (Q263*)
Ref Sequence ENSEMBL: ENSMUSP00000029929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029929]
Predicted Effect probably null
Transcript: ENSMUST00000029929
AA Change: Q263*
SMART Domains Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: Q263*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 306 478 1.5e-21 SMART
FN3 758 857 5.49e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198543
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G T 3: 37,006,984 probably null Het
9930022D16Rik T C 11: 109,417,911 probably benign Het
Aatk T C 11: 120,012,275 S375G probably benign Het
Abcg8 T C 17: 84,691,995 M173T probably benign Het
B3galt2 A C 1: 143,646,757 R210S probably benign Het
Capn5 C T 7: 98,135,764 A168T probably damaging Het
Cbx7 C T 15: 79,930,628 G24D probably damaging Het
Ccdc7a A T 8: 129,061,618 S77T probably benign Het
Cd200r2 T A 16: 44,909,469 probably benign Het
Cdh11 T C 8: 102,679,745 H32R probably benign Het
Chdh A T 14: 30,031,332 N66I probably benign Het
Dcc T C 18: 71,809,090 I319V probably benign Het
Depdc5 G T 5: 32,893,401 M170I probably damaging Het
Dopey2 T A 16: 93,810,229 L2140Q probably benign Het
Frem3 G A 8: 80,615,134 G1352E probably benign Het
Fsd1l T A 4: 53,694,742 C389S probably damaging Het
Grin2c C T 11: 115,258,110 A221T possibly damaging Het
Gstz1 C A 12: 87,163,801 P153T probably damaging Het
Itgb2 T C 10: 77,542,403 S22P possibly damaging Het
Krt87 G T 15: 101,438,431 Q114K possibly damaging Het
Krtap5-4 A C 7: 142,303,910 S106R unknown Het
Lats1 T C 10: 7,705,671 V740A probably damaging Het
Mcm9 C A 10: 53,629,945 G78C probably damaging Het
Mn1 G A 5: 111,421,547 E1128K possibly damaging Het
Myo1f G A 17: 33,593,003 R592H possibly damaging Het
Nfat5 G T 8: 107,367,514 A277S probably damaging Het
Nfkbia T A 12: 55,490,542 Y254F probably damaging Het
Nr3c2 A T 8: 76,909,214 N315Y probably damaging Het
Otof T C 5: 30,405,216 M258V probably benign Het
Panx3 C T 9: 37,661,471 C261Y probably damaging Het
Pdia2 C A 17: 26,198,922 G38W probably damaging Het
Psg19 G T 7: 18,794,046 Y257* probably null Het
Ptpre A T 7: 135,678,325 K586* probably null Het
Reps1 A G 10: 18,124,895 R752G probably damaging Het
Rpgrip1 T A 14: 52,131,176 D277E possibly damaging Het
Rpl21-ps6 A G 17: 55,915,671 noncoding transcript Het
Serpinf2 T A 11: 75,436,507 E198V possibly damaging Het
Sh3tc1 A G 5: 35,703,375 L1046P probably damaging Het
Snw1 T C 12: 87,450,941 E426G probably benign Het
Sord T A 2: 122,264,083 N317K probably benign Het
Taar3 A T 10: 23,950,432 D292V probably damaging Het
Tdrd3 C A 14: 87,472,182 T94K probably damaging Het
Ttn C A 2: 76,856,821 E736* probably null Het
Usp32 A G 11: 85,039,265 V562A probably damaging Het
Vmn1r169 T G 7: 23,577,186 M1R probably null Het
Vmn2r3 C T 3: 64,259,883 C609Y probably damaging Het
Vmn2r69 T C 7: 85,406,531 T800A probably benign Het
Vmn2r72 G A 7: 85,738,334 T674I probably benign Het
Zfp160 T A 17: 21,020,826 M52K possibly damaging Het
Zfp607a T A 7: 27,878,617 C371S probably damaging Het
Other mutations in Clca3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Clca3a2 APN 3 144817155 missense probably damaging 0.97
IGL01779:Clca3a2 APN 3 144819378 missense possibly damaging 0.47
IGL02066:Clca3a2 APN 3 144813455 missense probably benign
IGL02301:Clca3a2 APN 3 144806372 missense probably damaging 0.98
IGL02619:Clca3a2 APN 3 144806322 missense probably damaging 1.00
IGL02852:Clca3a2 APN 3 144806343 missense probably damaging 0.98
IGL02901:Clca3a2 APN 3 144816768 missense probably damaging 1.00
IGL03162:Clca3a2 APN 3 144806416 missense probably damaging 1.00
R0032:Clca3a2 UTSW 3 144816733 missense probably benign 0.01
R0244:Clca3a2 UTSW 3 144813898 missense possibly damaging 0.90
R1249:Clca3a2 UTSW 3 144803004 missense possibly damaging 0.80
R1370:Clca3a2 UTSW 3 144813863 splice site probably benign
R1586:Clca3a2 UTSW 3 144810716 missense possibly damaging 0.94
R1776:Clca3a2 UTSW 3 144813920 missense probably damaging 1.00
R1797:Clca3a2 UTSW 3 144797637 missense probably benign 0.01
R1869:Clca3a2 UTSW 3 144806403 missense probably benign 0.44
R1871:Clca3a2 UTSW 3 144797637 missense probably benign 0.01
R1919:Clca3a2 UTSW 3 144810696 missense probably benign
R1923:Clca3a2 UTSW 3 144805730 missense probably damaging 1.00
R2200:Clca3a2 UTSW 3 144813924 missense probably benign 0.10
R2324:Clca3a2 UTSW 3 144806280 critical splice donor site probably null
R2937:Clca3a2 UTSW 3 144813918 missense probably benign 0.06
R3429:Clca3a2 UTSW 3 144806327 missense probably benign 0.07
R3434:Clca3a2 UTSW 3 144808761 unclassified probably benign
R3551:Clca3a2 UTSW 3 144803081 missense probably damaging 1.00
R3952:Clca3a2 UTSW 3 144803061 missense probably damaging 1.00
R4120:Clca3a2 UTSW 3 144810852 missense probably benign 0.25
R4383:Clca3a2 UTSW 3 144806320 missense probably benign 0.02
R4518:Clca3a2 UTSW 3 144808705 missense probably damaging 1.00
R4598:Clca3a2 UTSW 3 144805683 missense probably damaging 1.00
R4801:Clca3a2 UTSW 3 144807351 missense possibly damaging 0.95
R4802:Clca3a2 UTSW 3 144807351 missense possibly damaging 0.95
R4816:Clca3a2 UTSW 3 144810852 missense probably benign 0.25
R4934:Clca3a2 UTSW 3 144817931 missense probably damaging 1.00
R4942:Clca3a2 UTSW 3 144806502 missense probably damaging 1.00
R5123:Clca3a2 UTSW 3 144806343 missense probably damaging 1.00
R5156:Clca3a2 UTSW 3 144805838 missense probably benign 0.26
R5275:Clca3a2 UTSW 3 144813579 missense probably damaging 1.00
R5372:Clca3a2 UTSW 3 144797525 missense probably benign 0.00
R5656:Clca3a2 UTSW 3 144797632 missense probably benign 0.26
R6059:Clca3a2 UTSW 3 144810770 missense probably damaging 1.00
R6155:Clca3a2 UTSW 3 144819357 missense probably damaging 0.99
R6254:Clca3a2 UTSW 3 144802134 missense probably benign
R6336:Clca3a2 UTSW 3 144806478 missense probably benign
R6470:Clca3a2 UTSW 3 144804263 unclassified probably null
R6593:Clca3a2 UTSW 3 144808577 critical splice donor site probably null
R6631:Clca3a2 UTSW 3 144813644 missense probably benign
R6826:Clca3a2 UTSW 3 144818054 missense possibly damaging 0.46
R6836:Clca3a2 UTSW 3 144806383 missense probably damaging 0.97
R6896:Clca3a2 UTSW 3 144808701 missense probably damaging 1.00
R7211:Clca3a2 UTSW 3 144814014 missense probably benign 0.00
R7324:Clca3a2 UTSW 3 144808611 missense probably damaging 0.99
R7411:Clca3a2 UTSW 3 144802099 missense probably damaging 1.00
R7486:Clca3a2 UTSW 3 144797601 missense probably damaging 1.00
R7491:Clca3a2 UTSW 3 144813579 missense probably damaging 1.00
R7521:Clca3a2 UTSW 3 144801913 makesense probably null
R7889:Clca3a2 UTSW 3 144810813 nonsense probably null
R7972:Clca3a2 UTSW 3 144810813 nonsense probably null
R8022:Clca3a2 UTSW 3 144805766 missense probably damaging 1.00
Posted On2013-06-28