Incidental Mutation 'IGL01715:Sds'
ID 104911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sds
Ensembl Gene ENSMUSG00000029597
Gene Name serine dehydratase
Synonyms SDH
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # IGL01715
Quality Score
Status
Chromosome 5
Chromosomal Location 120614612-120621997 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 120617272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 43 (R43*)
Ref Sequence ENSEMBL: ENSMUSP00000143838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031597] [ENSMUST00000066540] [ENSMUST00000111898] [ENSMUST00000201684]
AlphaFold Q8VBT2
Predicted Effect probably benign
Transcript: ENSMUST00000031597
SMART Domains Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Phospholip_B 62 591 2.9e-179 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000066540
AA Change: R43*
SMART Domains Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597
AA Change: R43*

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111898
AA Change: R43*
SMART Domains Protein: ENSMUSP00000107529
Gene: ENSMUSG00000029597
AA Change: R43*

DomainStartEndE-ValueType
Pfam:PALP 5 101 2.8e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128728
Predicted Effect probably null
Transcript: ENSMUST00000201684
AA Change: R43*
SMART Domains Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597
AA Change: R43*

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
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 one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Sds is the serine dehydratase structural gene. Albino region deletions profoundly affect development and expression of some gluconeogenic enzymes, including Sds. In these deletion mice, Sds is expressed normally on the constitutive level, but fails to develop hormone-inducible expression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,258,182 (GRCm39) N498D possibly damaging Het
Ap5s1 T C 2: 131,053,293 (GRCm39) S26P probably damaging Het
Apaf1 T C 10: 90,894,216 (GRCm39) Y473C probably benign Het
Cdc42ep4 C T 11: 113,620,268 (GRCm39) G41D probably damaging Het
Ddx42 T A 11: 106,115,101 (GRCm39) Y60N probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Drd3 T A 16: 43,641,631 (GRCm39) L316M probably damaging Het
Hadha C T 5: 30,325,082 (GRCm39) G703R probably damaging Het
Lrrc74a A C 12: 86,801,189 (GRCm39) M347L probably benign Het
Macf1 G T 4: 123,284,879 (GRCm39) Q4208K probably damaging Het
Myh15 C T 16: 48,877,847 (GRCm39) probably benign Het
Ndufa7 A T 17: 34,057,122 (GRCm39) M101L probably benign Het
Pla2g6 A G 15: 79,202,057 (GRCm39) V38A probably benign Het
Sar1a A G 10: 61,521,406 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,378 (GRCm39) T246A probably damaging Het
Slc9a9 A G 9: 94,842,499 (GRCm39) Y350C probably damaging Het
Strc T A 2: 121,196,218 (GRCm39) probably null Het
Tln1 A G 4: 43,555,890 (GRCm39) V108A probably damaging Het
Vmn2r111 G T 17: 22,788,054 (GRCm39) probably benign Het
Wnk1 G A 6: 119,925,358 (GRCm39) P1369S probably damaging Het
Zfhx4 T A 3: 5,307,105 (GRCm39) D110E probably benign Het
Zfp462 A G 4: 55,008,586 (GRCm39) Y184C probably benign Het
Other mutations in Sds
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2567:Sds UTSW 5 120,619,646 (GRCm39) missense probably damaging 1.00
R5490:Sds UTSW 5 120,621,715 (GRCm39) missense possibly damaging 0.62
R5682:Sds UTSW 5 120,621,784 (GRCm39) missense possibly damaging 0.95
R6888:Sds UTSW 5 120,618,965 (GRCm39) critical splice donor site probably null
R6958:Sds UTSW 5 120,619,537 (GRCm39) missense probably damaging 0.98
R7030:Sds UTSW 5 120,618,890 (GRCm39) missense probably benign
R7036:Sds UTSW 5 120,618,912 (GRCm39) missense possibly damaging 0.77
R7152:Sds UTSW 5 120,619,716 (GRCm39) splice site probably null
R7422:Sds UTSW 5 120,617,254 (GRCm39) missense probably damaging 1.00
R7883:Sds UTSW 5 120,617,278 (GRCm39) missense possibly damaging 0.92
R8094:Sds UTSW 5 120,617,001 (GRCm39) intron probably benign
R8960:Sds UTSW 5 120,621,659 (GRCm39) missense probably damaging 1.00
R9017:Sds UTSW 5 120,618,655 (GRCm39) missense probably benign 0.00
R9058:Sds UTSW 5 120,618,779 (GRCm39) missense possibly damaging 0.58
R9218:Sds UTSW 5 120,621,677 (GRCm39) missense probably damaging 1.00
R9519:Sds UTSW 5 120,619,610 (GRCm39) missense probably damaging 1.00
R9540:Sds UTSW 5 120,618,927 (GRCm39) missense probably benign 0.11
Posted On 2014-01-21