Incidental Mutation 'R9218:Sds'
ID 699304
Institutional Source Beutler Lab
Gene Symbol Sds
Ensembl Gene ENSMUSG00000029597
Gene Name serine dehydratase
Synonyms SDH
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R9218 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120614612-120621997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120621677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 273 (A273V)
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 probably damaging
Transcript: ENSMUST00000066540
AA Change: A273V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597
AA Change: A273V

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 damaging
Transcript: ENSMUST00000201684
AA Change: A273V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597
AA Change: A273V

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (57/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,610,460 (GRCm39) T378A probably damaging Het
Abcb4 A G 5: 8,977,960 (GRCm39) M513V probably benign Het
Abhd18 T C 3: 40,871,201 (GRCm39) probably null Het
Adamtsl4 A T 3: 95,588,404 (GRCm39) Y561* probably null Het
Alx4 T A 2: 93,473,172 (GRCm39) F57I possibly damaging Het
Ap3b1 A G 13: 94,584,959 (GRCm39) probably null Het
Arsj A C 3: 126,232,114 (GRCm39) N287H probably benign Het
Bltp3a T A 17: 28,114,529 (GRCm39) C1387S probably benign Het
Cabp4 T A 19: 4,188,693 (GRCm39) probably null Het
Cdcp3 C T 7: 130,863,728 (GRCm39) H1244Y unknown Het
Cdh6 T C 15: 13,057,556 (GRCm39) N255S probably null Het
Ctrb1 C T 8: 112,416,140 (GRCm39) V49M probably damaging Het
Cts3 A G 13: 61,716,583 (GRCm39) S18P possibly damaging Het
Dcst1 A T 3: 89,272,412 (GRCm39) I17N probably benign Het
Dennd5a G A 7: 109,507,592 (GRCm39) H823Y probably damaging Het
Dmrt2 T G 19: 25,651,066 (GRCm39) L84R possibly damaging Het
Dock9 G T 14: 121,905,871 (GRCm39) T93K probably damaging Het
Fsip2 C T 2: 82,823,062 (GRCm39) P6265L probably damaging Het
Fxn T A 19: 24,239,388 (GRCm39) K168M probably damaging Het
Hc A G 2: 34,922,203 (GRCm39) L541P probably damaging Het
Hsd3b5 T C 3: 98,526,354 (GRCm39) H364R probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Inf2 G A 12: 112,567,858 (GRCm39) D163N possibly damaging Het
Iqcd C T 5: 120,738,707 (GRCm39) P175L possibly damaging Het
Iqck C T 7: 118,540,902 (GRCm39) A267V probably damaging Het
Kcnh1 A T 1: 192,135,938 (GRCm39) N66I unknown Het
Kif16b T A 2: 142,541,583 (GRCm39) E1239V possibly damaging Het
Mctp1 A G 13: 76,871,816 (GRCm39) D362G possibly damaging Het
Muc5ac T A 7: 141,361,098 (GRCm39) S1470T probably damaging Het
Neb A G 2: 52,183,638 (GRCm39) probably null Het
Odc1 T A 12: 17,598,312 (GRCm39) L151* probably null Het
Or4e1 A T 14: 52,700,788 (GRCm39) V226E probably damaging Het
Or51f23c-ps1 T C 7: 102,431,373 (GRCm39) I230T possibly damaging Het
Otof T A 5: 30,542,469 (GRCm39) Q693L probably benign Het
Pitpnm2 G A 5: 124,265,344 (GRCm39) S753F probably damaging Het
Pkd1l3 C A 8: 110,382,128 (GRCm39) S1632* probably null Het
Pkhd1l1 A G 15: 44,384,122 (GRCm39) T1171A possibly damaging Het
Plpp2 A G 10: 79,366,501 (GRCm39) F104L probably damaging Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Pms2 G A 5: 143,867,945 (GRCm39) V850I probably benign Het
Psmd5 G T 2: 34,747,794 (GRCm39) Q288K probably benign Het
Rab37 G A 11: 115,051,475 (GRCm39) R194H probably damaging Het
Sema4f A G 6: 82,890,480 (GRCm39) S776P probably benign Het
Sh3tc2 T C 18: 62,101,101 (GRCm39) C65R probably benign Het
Siglece C T 7: 43,307,162 (GRCm39) R275H possibly damaging Het
Slc6a12 G A 6: 121,335,623 (GRCm39) A318T probably damaging Het
Smcr8 A T 11: 60,670,705 (GRCm39) I618L probably benign Het
Stt3a A G 9: 36,670,556 (GRCm39) F72L probably damaging Het
Tecpr1 T C 5: 144,154,049 (GRCm39) K135E possibly damaging Het
Tmem62 A G 2: 120,835,224 (GRCm39) I516M probably benign Het
Tnpo2 C A 8: 85,776,609 (GRCm39) H439N possibly damaging Het
Tut4 A T 4: 108,370,083 (GRCm39) K661* probably null Het
Txlnb C T 10: 17,718,570 (GRCm39) S467F probably damaging Het
Tyw5 G A 1: 57,435,948 (GRCm39) P81S probably damaging Het
Vamp2 A G 11: 68,980,585 (GRCm39) D51G possibly damaging Het
Vmn1r220 T A 13: 23,368,609 (GRCm39) Y29F probably benign Het
Vmn2r80 A G 10: 79,030,270 (GRCm39) T699A possibly damaging Het
Vps9d1 G A 8: 123,977,674 (GRCm39) T87I probably benign Het
Zfhx3 T C 8: 109,520,501 (GRCm39) V541A probably benign Het
Zmym4 A T 4: 126,809,415 (GRCm39) L295Q probably damaging 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
R9058:Sds UTSW 5 120,618,779 (GRCm39) missense possibly damaging 0.58
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'- CCAGCCTTGAAGATAGCCAAAG -3'
(R):5'- GGCAGCAGCAGATATCACTC -3'

Sequencing Primer
(F):5'- GTAAGAACACGCACTGCTGTTAATC -3'
(R):5'- CAGCAGATATCACTCGGGCAG -3'
Posted On 2022-02-07