Incidental Mutation 'PIT4382001:Csad'
ID 554717
Institutional Source Beutler Lab
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 # PIT4382001 (G1)
Quality Score 154.008
Status Not validated
Chromosome 15
Chromosomal Location 102085432-102112685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102097085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 7 (L7F)
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 benign
Transcript: ENSMUST00000023805
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023805
Gene: ENSMUSG00000023044
AA Change: L7F

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
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000229252
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000229345
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000229470
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000229514
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000229770
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000229938
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000230288
AA Change: L7F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000230322
AA Change: L7F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000230342
Predicted Effect probably benign
Transcript: ENSMUST00000230656
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000230687
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000230708
Predicted Effect probably benign
Transcript: ENSMUST00000231030
AA Change: L7F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000231048
AA Change: L7F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.5%
  • 10x: 84.6%
  • 20x: 72.3%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik G T 7: 136,978,711 (GRCm39) H144N unknown Het
Acsm4 C T 7: 119,297,798 (GRCm39) T145M probably damaging Het
Adam10 T C 9: 70,673,363 (GRCm39) L498P probably damaging Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Alk T C 17: 72,256,916 (GRCm39) M648V probably benign Het
Arhgap35 T C 7: 16,297,794 (GRCm39) R424G possibly damaging Het
Baiap2l1 T C 5: 144,215,480 (GRCm39) K342E possibly damaging Het
Ccdc54 C T 16: 50,411,219 (GRCm39) V16M probably damaging Het
Chil3 T G 3: 106,055,975 (GRCm39) D366A probably damaging Het
Chuk A G 19: 44,087,046 (GRCm39) V151A probably damaging Het
Cpd T G 11: 76,688,614 (GRCm39) H886P probably benign Het
Cped1 T A 6: 22,222,449 (GRCm39) C736* probably null Het
Creb3l3 T C 10: 80,920,746 (GRCm39) E428G probably benign Het
Dnah1 C T 14: 31,006,412 (GRCm39) D2255N probably damaging Het
Dnajb12 T C 10: 59,728,508 (GRCm39) Y159H probably damaging Het
Dpysl4 T A 7: 138,669,494 (GRCm39) Y57* probably null Het
F2rl1 T G 13: 95,650,154 (GRCm39) N243H probably benign Het
Fhl4 T C 10: 84,934,293 (GRCm39) K163E possibly damaging Het
Flot2 T C 11: 77,944,193 (GRCm39) S46P possibly damaging Het
Fsip2 C A 2: 82,821,196 (GRCm39) T5643K possibly damaging Het
Golga4 T A 9: 118,382,521 (GRCm39) Y542N possibly damaging Het
Il17re A G 6: 113,446,038 (GRCm39) T426A probably benign Het
Kdm2a T A 19: 4,393,201 (GRCm39) M385L probably benign Het
Kdm3b T C 18: 34,942,140 (GRCm39) S744P probably damaging Het
Krtap20-1 T A 16: 88,881,048 (GRCm39) Y26* probably null Het
Lama2 T C 10: 27,080,901 (GRCm39) D974G probably damaging Het
Ldc1 A T 4: 130,112,954 (GRCm39) N147K possibly damaging Het
Lipo5 A T 19: 33,443,339 (GRCm39) L159Q probably null Het
LTO1 T A 7: 144,470,181 (GRCm39) Y37N probably damaging Het
Mau2 C T 8: 70,483,302 (GRCm39) E187K possibly damaging Het
Mrpl9 T C 3: 94,355,136 (GRCm39) L236P probably benign Het
Mta1 A G 12: 113,096,870 (GRCm39) T564A probably benign Het
Mylk C T 16: 34,696,012 (GRCm39) S249L probably damaging Het
Ncor1 G T 11: 62,235,489 (GRCm39) T331K probably damaging Het
Nsun3 T A 16: 62,606,228 (GRCm39) K15N probably damaging Het
Nsun5 A G 5: 135,400,355 (GRCm39) Y132C probably benign Het
Obsl1 T A 1: 75,464,607 (GRCm39) T1605S probably benign Het
Or10a3n A G 7: 108,493,309 (GRCm39) Y107H probably damaging Het
Or51f1 A G 7: 102,505,809 (GRCm39) Y227H probably damaging Het
Or51t4 A T 7: 102,598,656 (GRCm39) Y328F probably benign Het
Or5b109 T C 19: 13,212,259 (GRCm39) I215T probably damaging Het
P2rx1 A G 11: 72,900,026 (GRCm39) N148D probably benign Het
Pogz T A 3: 94,787,107 (GRCm39) S1232T probably damaging Het
Polr3b C A 10: 84,520,049 (GRCm39) T655N probably damaging Het
Prss34 T C 17: 25,517,882 (GRCm39) probably null Het
Rhpn2 A G 7: 35,090,178 (GRCm39) probably null Het
Runx1 T A 16: 92,410,648 (GRCm39) D256V probably damaging Het
Shc1 C A 3: 89,334,715 (GRCm39) Q525K probably benign Het
Slc10a5 T C 3: 10,400,507 (GRCm39) D51G probably benign Het
Slc6a3 A T 13: 73,719,642 (GRCm39) N557I probably benign Het
Slmap C T 14: 26,254,586 (GRCm39) R32H probably damaging Het
Spata31d1c T C 13: 65,183,985 (GRCm39) I509T probably benign Het
Spata31e4 A T 13: 50,855,007 (GRCm39) E215V probably damaging Het
Srr C A 11: 74,801,134 (GRCm39) V138F probably benign Het
Tas2r118 G A 6: 23,969,785 (GRCm39) T92I possibly damaging Het
Tcaf2 A T 6: 42,601,300 (GRCm39) *920K probably null Het
Tenm2 T A 11: 35,954,729 (GRCm39) Y1141F probably damaging Het
Thoc6 T C 17: 23,887,841 (GRCm39) N322S probably benign Het
Tlcd2 A G 11: 75,359,417 (GRCm39) I70V probably benign Het
Tmem214 A G 5: 31,028,795 (GRCm39) D128G possibly damaging Het
Trav13d-4 T C 14: 53,995,238 (GRCm39) V64A probably benign Het
Tyro3 T C 2: 119,632,845 (GRCm39) W122R probably damaging Het
Ugcg A G 4: 59,213,246 (GRCm39) D144G possibly damaging Het
Uimc1 T C 13: 55,178,828 (GRCm39) D627G probably benign Het
Utp6 T C 11: 79,853,099 (GRCm39) I13V probably benign Het
Vmn2r99 A G 17: 19,614,605 (GRCm39) K775R probably damaging Het
Wdfy3 CG C 5: 102,030,827 (GRCm39) probably null Het
Zw10 C T 9: 48,982,944 (GRCm39) T525I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CCCGGATGTCTTCACAAGTG -3'
(R):5'- ACCATCTCCTCGGATACTGC -3'

Sequencing Primer
(F):5'- GATGTCTTCACAAGTGTGTCCAAGC -3'
(R):5'- GGATACTGCCACTGCCCTAATG -3'
Posted On 2019-06-07