Incidental Mutation 'IGL01563:Csad'
ID 90902
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 # IGL01563
Quality Score
Status
Chromosome 15
Chromosomal Location 102085432-102112685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102095598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 153 (S153F)
Ref Sequence ENSEMBL: ENSMUSP00000155192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023805] [ENSMUST00000229043] [ENSMUST00000229252] [ENSMUST00000229345] [ENSMUST00000229470] [ENSMUST00000229514] [ENSMUST00000229770] [ENSMUST00000230288] [ENSMUST00000230708] [ENSMUST00000231048] [ENSMUST00000230687] [ENSMUST00000231030] [ENSMUST00000230656] [ENSMUST00000229938] [ENSMUST00000230322]
AlphaFold Q9DBE0
Predicted Effect probably damaging
Transcript: ENSMUST00000023805
AA Change: S153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023805
Gene: ENSMUSG00000023044
AA Change: S153F

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 damaging
Transcript: ENSMUST00000229043
AA Change: S153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229252
Predicted Effect probably benign
Transcript: ENSMUST00000229345
Predicted Effect probably benign
Transcript: ENSMUST00000229470
Predicted Effect probably damaging
Transcript: ENSMUST00000229514
AA Change: S153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229770
Predicted Effect probably damaging
Transcript: ENSMUST00000230288
AA Change: S153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230708
AA Change: S14F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231048
AA Change: S153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230687
AA Change: S153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231030
Predicted Effect probably benign
Transcript: ENSMUST00000230656
Predicted Effect probably benign
Transcript: ENSMUST00000230342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230665
Predicted Effect probably benign
Transcript: ENSMUST00000229938
Predicted Effect probably benign
Transcript: ENSMUST00000230322
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,604,965 (GRCm39) E2205G probably damaging Het
Arid2 G A 15: 96,270,278 (GRCm39) V1464I probably damaging Het
Axin2 A G 11: 108,814,631 (GRCm39) Q173R probably damaging Het
Best1 A G 19: 9,964,099 (GRCm39) F454L probably benign Het
CK137956 T G 4: 127,864,428 (GRCm39) K67T possibly damaging Het
Col14a1 G A 15: 55,351,337 (GRCm39) G1555R unknown Het
Cyp4f40 A T 17: 32,892,930 (GRCm39) D315V probably damaging Het
Galnt3 G A 2: 65,928,101 (GRCm39) A265V probably damaging Het
Gm5901 C A 7: 105,026,722 (GRCm39) Y163* probably null Het
Golga4 A G 9: 118,356,074 (GRCm39) probably benign Het
Greb1l A G 18: 10,469,399 (GRCm39) D138G probably damaging Het
Has1 A T 17: 18,063,924 (GRCm39) probably benign Het
Ighv1-42 A G 12: 114,900,804 (GRCm39) S94P probably damaging Het
Katnb1 T A 8: 95,824,787 (GRCm39) L569Q probably damaging Het
Nedd1 C T 10: 92,534,031 (GRCm39) probably null Het
Or2b2 A G 13: 21,887,243 (GRCm39) E24G probably benign Het
Or8c15 T A 9: 38,120,997 (GRCm39) I214N probably damaging Het
Pdcd4 G A 19: 53,917,552 (GRCm39) R463H probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ro60 A G 1: 143,637,120 (GRCm39) V364A probably benign Het
Rps19bp1 A G 15: 80,145,532 (GRCm39) M84T probably benign Het
Sass6 A T 3: 116,398,847 (GRCm39) D43V probably damaging Het
Senp6 G A 9: 80,029,290 (GRCm39) S551N probably benign Het
Sh2d2a A G 3: 87,759,432 (GRCm39) E273G probably damaging Het
Slc16a14 T C 1: 84,889,908 (GRCm39) probably benign Het
Smcr8 C T 11: 60,674,671 (GRCm39) R816C possibly damaging Het
Trappc8 A T 18: 20,970,103 (GRCm39) N962K probably benign Het
Trpc6 A G 9: 8,656,604 (GRCm39) E677G probably damaging Het
Ubap2 G T 4: 41,195,998 (GRCm39) P961T probably damaging Het
Vmn1r23 A G 6: 57,903,061 (GRCm39) V239A possibly damaging Het
Vps41 T C 13: 18,966,897 (GRCm39) probably benign Het
Vwf A T 6: 125,568,128 (GRCm39) D341V probably damaging Het
Zfp618 C T 4: 62,998,133 (GRCm39) P45L probably benign Het
Other mutations in Csad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Csad APN 15 102,088,516 (GRCm39) missense probably benign 0.02
IGL02254:Csad APN 15 102,094,872 (GRCm39) nonsense probably null
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 2013-12-09