Incidental Mutation 'R9058:Sds'
ID 688808
Institutional Source Beutler Lab
Gene Symbol Sds
Ensembl Gene ENSMUSG00000029597
Gene Name serine dehydratase
Synonyms SDH
MMRRC Submission 068884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R9058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 120614612-120621997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120618779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 111 (E111G)
Ref Sequence ENSEMBL: ENSMUSP00000064849 (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 possibly damaging
Transcript: ENSMUST00000066540
AA Change: E111G

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597
AA Change: E111G

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111898
SMART Domains Protein: ENSMUSP00000107529
Gene: ENSMUSG00000029597

DomainStartEndE-ValueType
Pfam:PALP 5 101 2.8e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000201684
AA Change: E111G

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597
AA Change: E111G

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T C 11: 116,080,268 (GRCm39) T135A possibly damaging Het
Adrm1b A T 3: 92,335,559 (GRCm39) M283K probably benign Het
Aldh8a1 T C 10: 21,258,344 (GRCm39) I147T possibly damaging Het
Alkbh5 T C 11: 60,444,548 (GRCm39) L288S probably benign Het
Bpifb5 A G 2: 154,080,817 (GRCm39) D478G possibly damaging Het
Cacna1s A T 1: 135,998,436 (GRCm39) K155* probably null Het
Ccser1 T C 6: 61,350,976 (GRCm39) L511P probably damaging Het
Cebpz A T 17: 79,243,227 (GRCm39) N142K probably benign Het
Cfap299 A T 5: 98,932,400 (GRCm39) D200V probably damaging Het
Clip1 G T 5: 123,752,645 (GRCm39) R379S Het
Cpne8 T A 15: 90,381,276 (GRCm39) I513F probably damaging Het
Ctnnb1 T A 9: 120,780,476 (GRCm39) C213* probably null Het
Dnah7b A G 1: 46,282,575 (GRCm39) K2903E probably damaging Het
Dnah7c G T 1: 46,805,816 (GRCm39) G3422W probably damaging Het
Dnhd1 T A 7: 105,333,270 (GRCm39) H247Q probably benign Het
Efna2 A G 10: 80,022,720 (GRCm39) Y88C probably damaging Het
Eppk1 C T 15: 75,992,265 (GRCm39) G1539R probably benign Het
Exoc3l2 A T 7: 19,203,821 (GRCm39) K138* probably null Het
Fam47e A G 5: 92,719,367 (GRCm39) probably benign Het
Frmpd1 T A 4: 45,283,948 (GRCm39) M923K probably damaging Het
Gbe1 A G 16: 70,324,059 (GRCm39) E558G possibly damaging Het
Gm5431 T C 11: 48,786,049 (GRCm39) T109A probably benign Het
Gm9508 G A 10: 77,532,620 (GRCm39) P150S unknown Het
Grep1 T C 17: 23,935,016 (GRCm39) N63S probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hrob T C 11: 102,146,386 (GRCm39) S221P probably benign Het
Hsfy2 A T 1: 56,676,504 (GRCm39) V11D probably benign Het
Kif13a T C 13: 46,944,941 (GRCm39) N887D probably damaging Het
Kirrel1 A G 3: 86,992,442 (GRCm39) V541A probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lamc3 G A 2: 31,798,653 (GRCm39) R453H probably benign Het
Mideas A G 12: 84,220,642 (GRCm39) M104T probably damaging Het
Muc6 G C 7: 141,218,154 (GRCm39) T2173S possibly damaging Het
Neb T C 2: 52,075,341 (GRCm39) N208S probably benign Het
Nlrc5 A T 8: 95,238,938 (GRCm39) T1459S possibly damaging Het
Npy1r T C 8: 67,156,600 (GRCm39) S7P probably benign Het
Nr4a2 T C 2: 57,002,255 (GRCm39) N66S probably benign Het
Nr5a1 T C 2: 38,584,034 (GRCm39) T462A probably damaging Het
Ntng2 A G 2: 29,094,202 (GRCm39) C390R probably benign Het
Or4p23 A C 2: 88,577,030 (GRCm39) D67E Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or7g12 T A 9: 18,900,222 (GRCm39) *313R probably null Het
Pecam1 G T 11: 106,590,675 (GRCm39) P33Q probably damaging Het
Phc2 T A 4: 128,616,769 (GRCm39) F347L probably benign Het
Phldb2 T A 16: 45,592,604 (GRCm39) H938L possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prkch G T 12: 73,822,308 (GRCm39) probably null Het
Prr5 A G 15: 84,641,241 (GRCm39) N169S probably benign Het
Puf60 C T 15: 75,942,425 (GRCm39) D483N probably benign Het
Puf60 C T 15: 75,944,382 (GRCm39) M133I probably benign Het
Rmnd1 T C 10: 4,363,398 (GRCm39) H284R probably benign Het
Scaper T C 9: 55,722,762 (GRCm39) E682G probably damaging Het
Sec23b T A 2: 144,424,010 (GRCm39) I553N probably damaging Het
Serpina1a A T 12: 103,820,001 (GRCm39) I415K possibly damaging Het
Slc14a1 T A 18: 78,145,785 (GRCm39) probably null Het
Socs1 G A 16: 10,602,692 (GRCm39) P15L probably benign Het
Sv2b A T 7: 74,789,822 (GRCm39) probably null Het
Sync T C 4: 129,187,217 (GRCm39) I83T probably damaging Het
Syt16 T A 12: 74,282,019 (GRCm39) L381Q probably damaging Het
Tbx20 T C 9: 24,681,019 (GRCm39) R158G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmem19 C A 10: 115,198,031 (GRCm39) probably benign Het
Trpa1 A C 1: 14,959,618 (GRCm39) N689K probably damaging Het
Ube3b C A 5: 114,553,300 (GRCm39) H891N probably benign Het
Vmn2r19 T A 6: 123,313,021 (GRCm39) M697K possibly damaging Het
Zfp142 A T 1: 74,608,955 (GRCm39) C1613* probably null Het
Zfp7 T A 15: 76,764,981 (GRCm39) M1K probably null Het
Zfp936 A T 7: 42,839,196 (GRCm39) Q221L probably benign Het
Other mutations in Sds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01715:Sds APN 5 120,617,272 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TTCCCTCTGGAGATGAGCAGTC -3'
(R):5'- CCAACTTACCAGATGAGAGGG -3'

Sequencing Primer
(F):5'- AGATGAGCAGTCCCACCTG -3'
(R):5'- GTCATCAAAGGGGGAAATGTACACC -3'
Posted On 2021-11-19