Incidental Mutation 'R7742:Csad'
ID 596627
Institutional Source Beutler Lab
Gene Symbol Csad
Ensembl Gene ENSMUSG00000023044
Gene Name cysteine sulfinic acid decarboxylase
Synonyms
MMRRC Submission 045798-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7742 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102085432-102112685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102095599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 153 (S153P)
Ref Sequence ENSEMBL: ENSMUSP00000023805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023805] [ENSMUST00000229043] [ENSMUST00000229252] [ENSMUST00000229345] [ENSMUST00000229470] [ENSMUST00000229514] [ENSMUST00000229770] [ENSMUST00000229938] [ENSMUST00000230288] [ENSMUST00000230322] [ENSMUST00000230656] [ENSMUST00000230687] [ENSMUST00000230708] [ENSMUST00000231030] [ENSMUST00000231048]
AlphaFold Q9DBE0
Predicted Effect probably damaging
Transcript: ENSMUST00000023805
AA Change: S153P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023805
Gene: ENSMUSG00000023044
AA Change: S153P

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: S153P

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: S153P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229770
Predicted Effect probably benign
Transcript: ENSMUST00000229938
Predicted Effect probably damaging
Transcript: ENSMUST00000230288
AA Change: S153P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230322
Predicted Effect probably benign
Transcript: ENSMUST00000230342
Predicted Effect probably benign
Transcript: ENSMUST00000230656
Predicted Effect probably damaging
Transcript: ENSMUST00000230687
AA Change: S153P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230708
AA Change: S14P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231030
Predicted Effect probably damaging
Transcript: ENSMUST00000231048
AA Change: S153P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9588 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,714 (GRCm39) K417R possibly damaging Het
Adgrl2 A T 3: 148,542,064 (GRCm39) I886N probably damaging Het
Angptl2 A G 2: 33,133,928 (GRCm39) T417A probably damaging Het
Ankrd33b T C 15: 31,367,538 (GRCm39) M1V probably null Het
Col3a1 A G 1: 45,384,161 (GRCm39) H1155R unknown Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dmtf1 C T 5: 9,172,457 (GRCm39) probably benign Het
Dna2 T C 10: 62,809,073 (GRCm39) I1055T probably benign Het
Dnai4 C T 4: 102,947,630 (GRCm39) M215I probably benign Het
Dync2h1 T C 9: 7,076,232 (GRCm39) D2975G probably benign Het
Eif1ad7 A T 12: 88,238,476 (GRCm39) Y95N probably damaging Het
F5 G T 1: 164,035,453 (GRCm39) V1876F possibly damaging Het
Fam81b T A 13: 76,399,809 (GRCm39) I150F probably damaging Het
Fbl T A 7: 27,877,684 (GRCm39) V252E probably damaging Het
Fbln1 A G 15: 85,124,917 (GRCm39) D475G probably damaging Het
Fshr T A 17: 89,293,590 (GRCm39) I363F probably benign Het
Gapvd1 A G 2: 34,568,635 (GRCm39) L1328P probably damaging Het
Hcfc2 T A 10: 82,547,659 (GRCm39) probably null Het
Ifi209 C A 1: 173,470,198 (GRCm39) T262K probably damaging Het
Kif2b T A 11: 91,467,411 (GRCm39) I291F possibly damaging Het
Lrp1b T A 2: 40,712,641 (GRCm39) D3231V Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nudcd1 T C 15: 44,268,754 (GRCm39) K209E probably benign Het
Nup98 C T 7: 101,802,464 (GRCm39) probably null Het
Odad3 T C 9: 21,904,193 (GRCm39) D361G possibly damaging Het
Or2ag2 T C 7: 106,485,829 (GRCm39) Q65R probably damaging Het
Or2j6 T A 7: 139,980,234 (GRCm39) I242F probably benign Het
Pign T C 1: 105,480,122 (GRCm39) I851V probably benign Het
Pkd1l3 T A 8: 110,341,204 (GRCm39) L19Q unknown Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekhm2 A G 4: 141,355,150 (GRCm39) L959P probably benign Het
Prkcg T C 7: 3,378,459 (GRCm39) I627T possibly damaging Het
Prl7b1 A T 13: 27,791,031 (GRCm39) M18K probably benign Het
Ptpn3 T A 4: 57,265,092 (GRCm39) probably null Het
Rp1 A T 1: 4,240,457 (GRCm39) F899I unknown Het
Sis T A 3: 72,832,431 (GRCm39) Y1026F probably benign Het
Slc4a10 T G 2: 62,127,194 (GRCm39) V879G probably damaging Het
Specc1l T C 10: 75,082,251 (GRCm39) I549T probably benign Het
Spmip11 T A 15: 98,483,250 (GRCm39) V60E probably damaging Het
Sprr2a3 G A 3: 92,196,066 (GRCm39) V58M unknown Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Syne2 C T 12: 76,106,209 (GRCm39) H785Y probably benign Het
Tat T A 8: 110,718,242 (GRCm39) N42K probably benign Het
Tmem184a C T 5: 139,792,744 (GRCm39) A271T probably benign Het
Tmprss11d T C 5: 86,451,493 (GRCm39) I411V probably damaging Het
Ttn T C 2: 76,733,872 (GRCm39) I4468V unknown Het
Vcam1 T C 3: 115,909,734 (GRCm39) N531S possibly damaging Het
Vmn1r257 C T 7: 22,391,343 (GRCm39) V134I probably benign Het
Xcl1 T C 1: 164,763,041 (GRCm39) T7A unknown Het
Zc3h11a A G 1: 133,565,173 (GRCm39) V242A probably benign Het
Zc3h7a A T 16: 10,971,025 (GRCm39) Y335N probably benign Het
Zp2 T C 7: 119,731,731 (GRCm39) I675V unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- ATTCGGCCTCCTTAGAAGGG -3'
(R):5'- GAAATGTGCTATTTGTGAACCCTG -3'

Sequencing Primer
(F):5'- AAGACTTGAAGGGTCTCTGACTG -3'
(R):5'- AACCCTGGGAATTTGTGGC -3'
Posted On 2019-11-26