Incidental Mutation 'IGL02162:Clca3a1'
ID282502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clca3a1
Ensembl Gene ENSMUSG00000056025
Gene Namechloride channel accessory 3A1
SynonymsClca1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02162
Quality Score
Status
Chromosome3
Chromosomal Location144729677-144760977 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 144754803 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 297 (P297T)
Ref Sequence ENSEMBL: ENSMUSP00000054526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029932] [ENSMUST00000059091]
Predicted Effect probably damaging
Transcript: ENSMUST00000029932
AA Change: P297T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: P297T

DomainStartEndE-ValueType
Pfam:CLCA_N 1 262 5.8e-144 PFAM
VWA 306 473 1.81e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000059091
AA Change: P297T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: P297T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 306 478 1.44e-23 SMART
Blast:FN3 758 857 2e-44 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196146
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang5 T C 14: 43,962,509 L10S probably damaging Het
Cdk5rap1 T C 2: 154,335,569 T577A probably damaging Het
Col9a2 A T 4: 121,054,334 probably benign Het
Ctss A G 3: 95,546,821 K227R probably benign Het
D230025D16Rik C T 8: 105,239,973 probably benign Het
D3Ertd254e T C 3: 36,164,061 F78L probably benign Het
Dmxl1 G A 18: 49,961,163 R2902Q probably benign Het
Dnah10 G T 5: 124,804,746 A2862S probably damaging Het
Fbxw5 C A 2: 25,503,271 Q16K probably damaging Het
Fcgbp G A 7: 28,075,235 C78Y probably damaging Het
Gm20547 T A 17: 34,857,027 Y688F possibly damaging Het
Gpaa1 T C 15: 76,332,153 probably benign Het
Grik2 T C 10: 49,422,575 H63R possibly damaging Het
Ikbkap A G 4: 56,796,502 probably null Het
Ikbke A G 1: 131,273,715 S132P possibly damaging Het
Kirrel2 A G 7: 30,453,664 I340T probably benign Het
Lipo5 A T 19: 33,468,763 probably benign Het
Nfkbie T G 17: 45,556,316 probably null Het
Ntng1 G T 3: 109,934,995 S154* probably null Het
Olfr784 C T 10: 129,388,104 P157L probably benign Het
Olfr875 A G 9: 37,772,931 I91V probably benign Het
Pbld2 T C 10: 63,071,400 probably benign Het
Plec C T 15: 76,180,160 M1971I probably benign Het
Ppp1r3a A T 6: 14,717,715 F1067I probably damaging Het
Qpctl A G 7: 19,144,681 F290L possibly damaging Het
Sorcs3 A T 19: 48,535,531 Y288F probably damaging Het
St8sia3 A G 18: 64,265,580 N37D probably benign Het
Vmn2r109 T C 17: 20,554,160 D311G probably benign Het
Zbtb44 A G 9: 31,053,392 I33V probably benign Het
Zfp541 C A 7: 16,079,468 T682K possibly damaging Het
Other mutations in Clca3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Clca3a1 APN 3 144755251 missense probably damaging 0.96
IGL01331:Clca3a1 APN 3 144747512 missense probably damaging 1.00
IGL01895:Clca3a1 APN 3 144747572 nonsense probably null
IGL01940:Clca3a1 APN 3 144746976 missense probably benign 0.25
IGL02200:Clca3a1 APN 3 144751929 splice site probably benign
IGL03093:Clca3a1 APN 3 144747501 missense probably damaging 0.99
Lucha UTSW 3 144749689 missense probably damaging 1.00
R0256:Clca3a1 UTSW 3 144730879 missense probably damaging 0.98
R0513:Clca3a1 UTSW 3 144760562 critical splice donor site probably null
R0543:Clca3a1 UTSW 3 144748394 splice site probably benign
R1522:Clca3a1 UTSW 3 144755171 missense probably benign 0.01
R1744:Clca3a1 UTSW 3 144746835 missense probably damaging 0.99
R1873:Clca3a1 UTSW 3 144746829 missense probably damaging 0.99
R2238:Clca3a1 UTSW 3 144752005 missense possibly damaging 0.94
R2278:Clca3a1 UTSW 3 144758024 missense probably damaging 0.99
R2516:Clca3a1 UTSW 3 144737858 splice site probably null
R3737:Clca3a1 UTSW 3 144730721 missense probably benign 0.01
R3981:Clca3a1 UTSW 3 144755309 missense probably benign 0.00
R3982:Clca3a1 UTSW 3 144755309 missense probably benign 0.00
R3983:Clca3a1 UTSW 3 144755309 missense probably benign 0.00
R4038:Clca3a1 UTSW 3 144755233 missense probably benign 0.35
R4382:Clca3a1 UTSW 3 144760722 start codon destroyed probably benign 0.08
R4543:Clca3a1 UTSW 3 144746988 missense probably damaging 1.00
R4766:Clca3a1 UTSW 3 144749712 missense probably damaging 1.00
R4899:Clca3a1 UTSW 3 144737961 missense probably damaging 1.00
R5090:Clca3a1 UTSW 3 144737872 missense probably benign 0.01
R5091:Clca3a1 UTSW 3 144730722 missense probably benign 0.00
R5205:Clca3a1 UTSW 3 144746784 missense possibly damaging 0.68
R5248:Clca3a1 UTSW 3 144737136 missense possibly damaging 0.62
R5354:Clca3a1 UTSW 3 144737005 missense possibly damaging 0.77
R5871:Clca3a1 UTSW 3 144754881 missense probably damaging 1.00
R5907:Clca3a1 UTSW 3 144749642 intron probably benign
R5976:Clca3a1 UTSW 3 144746875 missense probably damaging 1.00
R6190:Clca3a1 UTSW 3 144758060 missense probably benign 0.40
R6193:Clca3a1 UTSW 3 144759232 missense possibly damaging 0.65
R6263:Clca3a1 UTSW 3 144749778 missense probably damaging 1.00
R6299:Clca3a1 UTSW 3 144758514 missense probably damaging 0.99
R6327:Clca3a1 UTSW 3 144730797 missense probably benign 0.02
R6497:Clca3a1 UTSW 3 144759259 missense possibly damaging 0.81
R6542:Clca3a1 UTSW 3 144759260 missense probably benign 0.01
R6547:Clca3a1 UTSW 3 144736947 missense probably damaging 1.00
R6759:Clca3a1 UTSW 3 144749689 missense probably damaging 1.00
R7032:Clca3a1 UTSW 3 144747568 missense probably benign 0.07
R7063:Clca3a1 UTSW 3 144755206 missense probably damaging 0.97
R7139:Clca3a1 UTSW 3 144755302 missense possibly damaging 0.58
Z1088:Clca3a1 UTSW 3 144746953 missense probably damaging 1.00
Posted On2015-04-16