Incidental Mutation 'IGL02254:Csad'
ID 286541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csad
Ensembl Gene ENSMUSG00000023044
Gene Name cysteine sulfinic acid decarboxylase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02254
Quality Score
Status
Chromosome 15
Chromosomal Location 102085432-102112685 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 102094872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 63 (G63*)
Ref Sequence ENSEMBL: ENSMUSP00000155265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023805] [ENSMUST00000229043] [ENSMUST00000229252] [ENSMUST00000229345] [ENSMUST00000229470] [ENSMUST00000229514] [ENSMUST00000229770] [ENSMUST00000231048] [ENSMUST00000230322] [ENSMUST00000230656] [ENSMUST00000231030] [ENSMUST00000229938] [ENSMUST00000230708] [ENSMUST00000230288] [ENSMUST00000230687]
AlphaFold Q9DBE0
Predicted Effect probably null
Transcript: ENSMUST00000023805
AA Change: G202*
SMART Domains Protein: ENSMUSP00000023805
Gene: ENSMUSG00000023044
AA Change: G202*

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 49 417 1.4e-113 PFAM
Pfam:Aminotran_5 120 281 4.9e-7 PFAM
low complexity region 482 490 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229043
Predicted Effect probably benign
Transcript: ENSMUST00000229252
Predicted Effect probably benign
Transcript: ENSMUST00000229345
Predicted Effect probably benign
Transcript: ENSMUST00000229470
Predicted Effect probably benign
Transcript: ENSMUST00000229514
Predicted Effect probably benign
Transcript: ENSMUST00000229770
Predicted Effect unknown
Transcript: ENSMUST00000231048
AA Change: G221V
Predicted Effect possibly damaging
Transcript: ENSMUST00000230322
AA Change: G163V

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000230342
AA Change: W42C
Predicted Effect probably benign
Transcript: ENSMUST00000230656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230665
Predicted Effect probably benign
Transcript: ENSMUST00000231030
Predicted Effect probably benign
Transcript: ENSMUST00000229938
Predicted Effect probably null
Transcript: ENSMUST00000230708
AA Change: G63*
Predicted Effect probably null
Transcript: ENSMUST00000230288
AA Change: G202*
Predicted Effect probably null
Transcript: ENSMUST00000230687
AA Change: G202*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agk T C 6: 40,358,180 (GRCm39) W211R probably damaging Het
Cacna1b T C 2: 24,506,827 (GRCm39) probably null Het
Calcrl A G 2: 84,178,552 (GRCm39) W259R probably damaging Het
Cenpe T A 3: 134,961,238 (GRCm39) C1911S probably benign Het
Cfhr4 A G 1: 139,661,143 (GRCm39) probably benign Het
H2bc8 G T 13: 23,755,609 (GRCm39) M1I probably null Het
Hc G A 2: 34,874,836 (GRCm39) A115V probably damaging Het
Hepacam2 T A 6: 3,483,421 (GRCm39) H196L probably benign Het
Kcnh6 G A 11: 105,911,533 (GRCm39) E640K probably damaging Het
Mrgprx2 G A 7: 48,132,686 (GRCm39) T10I probably benign Het
Myo15b T C 11: 115,777,109 (GRCm39) Y912H probably damaging Het
Plin4 G T 17: 56,411,733 (GRCm39) T766K probably damaging Het
Ric8b A G 10: 84,816,000 (GRCm39) D417G probably damaging Het
Rnf213 A C 11: 119,371,733 (GRCm39) Q4846P possibly damaging Het
Slc15a2 T C 16: 36,580,449 (GRCm39) Q320R possibly damaging Het
Slc35f3 A G 8: 127,115,862 (GRCm39) E263G probably damaging Het
Slc5a4b A T 10: 75,896,264 (GRCm39) W564R probably benign Het
Taf4 C T 2: 179,562,977 (GRCm39) V965M probably benign Het
Trpc3 C T 3: 36,705,669 (GRCm39) G509R probably null Het
Ttn T C 2: 76,708,309 (GRCm39) probably benign Het
Znfx1 G T 2: 166,897,643 (GRCm39) T427N probably damaging Het
Other mutations in Csad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Csad APN 15 102,095,598 (GRCm39) missense probably damaging 1.00
IGL01769:Csad APN 15 102,088,516 (GRCm39) missense probably benign 0.02
dejavu UTSW 15 102,088,407 (GRCm39) missense probably damaging 1.00
dell UTSW 15 102,087,041 (GRCm39) missense probably damaging 1.00
farmer UTSW 15 102,095,599 (GRCm39) missense probably damaging 1.00
lenovo UTSW 15 102,087,469 (GRCm39) missense probably null 1.00
PIT4382001:Csad UTSW 15 102,097,085 (GRCm39) missense probably benign 0.00
R0701:Csad UTSW 15 102,087,571 (GRCm39) missense probably benign 0.42
R1595:Csad UTSW 15 102,086,217 (GRCm39) missense probably damaging 1.00
R1707:Csad UTSW 15 102,088,407 (GRCm39) missense probably damaging 1.00
R2107:Csad UTSW 15 102,087,469 (GRCm39) missense probably null 1.00
R2196:Csad UTSW 15 102,096,028 (GRCm39) missense probably benign 0.00
R2275:Csad UTSW 15 102,095,557 (GRCm39) missense probably damaging 0.98
R2504:Csad UTSW 15 102,097,102 (GRCm39) start codon destroyed probably null 0.97
R2928:Csad UTSW 15 102,086,139 (GRCm39) missense probably damaging 1.00
R3924:Csad UTSW 15 102,086,991 (GRCm39) missense probably benign 0.05
R6235:Csad UTSW 15 102,087,041 (GRCm39) missense probably damaging 1.00
R6418:Csad UTSW 15 102,087,958 (GRCm39) missense probably damaging 0.96
R7612:Csad UTSW 15 102,097,357 (GRCm39) unclassified probably benign
R7742:Csad UTSW 15 102,095,599 (GRCm39) missense probably damaging 1.00
R8158:Csad UTSW 15 102,086,197 (GRCm39) missense probably damaging 1.00
R9520:Csad UTSW 15 102,097,102 (GRCm39) start codon destroyed probably null 0.45
Posted On 2015-04-16