Incidental Mutation 'R7152:Sds'
ID 574570
Institutional Source Beutler Lab
Gene Symbol Sds
Ensembl Gene ENSMUSG00000029597
Gene Name serine dehydratase
Synonyms SDH
MMRRC Submission 045254-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R7152 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120614612-120621997 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 120619716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597

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 probably null
Transcript: ENSMUST00000201684
SMART Domains Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl10 A G 11: 58,813,223 (GRCm39) N284S probably benign Het
Casz1 C G 4: 148,985,748 (GRCm39) probably benign Het
Cdkn2c A T 4: 109,522,235 (GRCm39) F37I probably damaging Het
Cdyl2 T C 8: 117,351,066 (GRCm39) K22E probably damaging Het
Cers1 T C 8: 70,770,901 (GRCm39) W104R probably damaging Het
Cgrrf1 T A 14: 47,090,934 (GRCm39) Y223* probably null Het
Cited2 C A 10: 17,600,134 (GRCm39) N147K probably benign Het
Clip2 A T 5: 134,525,095 (GRCm39) L904Q probably damaging Het
Cntln T C 4: 84,802,937 (GRCm39) V79A possibly damaging Het
Cntnap1 C T 11: 101,068,152 (GRCm39) R55W probably damaging Het
Cspg4b T C 13: 113,455,384 (GRCm39) F477L Het
Ctnna2 T A 6: 76,957,807 (GRCm39) T481S possibly damaging Het
Ddx17 T C 15: 79,414,464 (GRCm39) T570A possibly damaging Het
Epha7 A G 4: 28,935,826 (GRCm39) K483E possibly damaging Het
Eps8l2 A T 7: 140,935,678 (GRCm39) I150F possibly damaging Het
Esyt1 A G 10: 128,351,629 (GRCm39) S827P possibly damaging Het
Fbxl13 T A 5: 21,787,065 (GRCm39) I291F possibly damaging Het
Foxd3 A C 4: 99,545,562 (GRCm39) H234P probably benign Het
Ggta1 T A 2: 35,292,711 (GRCm39) M199L probably benign Het
H3c13 A G 3: 96,176,254 (GRCm39) D82G probably benign Het
Ighv5-15 T C 12: 113,790,317 (GRCm39) E101G probably benign Het
Igkv8-18 T C 6: 70,333,205 (GRCm39) L49P probably damaging Het
Itpr1 T C 6: 108,371,368 (GRCm39) probably null Het
Klhl36 C T 8: 120,596,953 (GRCm39) T218M probably benign Het
Ltn1 A G 16: 87,224,529 (GRCm39) F65S probably damaging Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ndst3 T A 3: 123,346,305 (GRCm39) I642F possibly damaging Het
Neb T C 2: 52,153,557 (GRCm39) D2456G probably damaging Het
Nphp1 A G 2: 127,595,899 (GRCm39) M522T probably benign Het
Or51k1 T A 7: 103,661,226 (GRCm39) M228L probably benign Het
Or8k33 C T 2: 86,383,673 (GRCm39) S265N probably benign Het
Pam T A 1: 97,813,465 (GRCm39) M322L probably damaging Het
Pcdhgb1 C A 18: 37,814,854 (GRCm39) H448Q probably benign Het
Pcnt T C 10: 76,247,194 (GRCm39) probably null Het
Pgm3 A T 9: 86,449,593 (GRCm39) D142E probably benign Het
Pomgnt2 C T 9: 121,812,589 (GRCm39) G64D probably damaging Het
Sirpb1b G T 3: 15,607,230 (GRCm39) Q351K probably benign Het
Slc2a12 T A 10: 22,541,453 (GRCm39) M436K probably benign Het
Slc9a5 G A 8: 106,095,025 (GRCm39) G872D probably benign Het
Stxbp2 T G 8: 3,682,583 (GRCm39) S57R probably benign Het
Sult2a6 T A 7: 13,956,445 (GRCm39) D272V probably benign Het
Supt5 A G 7: 28,023,325 (GRCm39) M318T probably benign Het
Tdpoz3 T C 3: 93,733,772 (GRCm39) V149A probably damaging Het
Tead2 T A 7: 44,869,871 (GRCm39) S124T possibly damaging Het
Tssc4 T A 7: 142,624,139 (GRCm39) V149D probably damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Uspl1 A G 5: 149,124,588 (GRCm39) T2A possibly damaging Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn1r37 T C 6: 66,708,883 (GRCm39) Y170H probably benign Het
Vnn3 T A 10: 23,727,513 (GRCm39) V11E possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfhx3 T C 8: 109,674,839 (GRCm39) V1963A possibly damaging Het
Zfp324 C A 7: 12,700,198 (GRCm39) A19E probably benign Het
Zfyve26 T C 12: 79,325,888 (GRCm39) S784G 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
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
Predicted Primers PCR Primer
(F):5'- TGTGTCTTCGTGAAGCCCTG -3'
(R):5'- AGTTCAATTTGGTTTAAGCTACTGG -3'

Sequencing Primer
(F):5'- CACTTCCCTTGTGAAAGAGCTGAAG -3'
(R):5'- ACTGCTCATGTGATGGAG -3'
Posted On 2019-09-18