Incidental Mutation 'R5490:Sds'
Institutional Source Beutler Lab
Gene Symbol Sds
Ensembl Gene ENSMUSG00000029597
Gene Nameserine dehydratase
MMRRC Submission 043051-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #R5490 (G1)
Quality Score225
Status Not validated
Chromosomal Location120476526-120483932 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 120483650 bp
Amino Acid Change Glutamine to Lysine at position 286 (Q286K)
Ref Sequence ENSEMBL: ENSMUSP00000143838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031597] [ENSMUST00000066540] [ENSMUST00000111898] [ENSMUST00000201684]
Predicted Effect probably benign
Transcript: ENSMUST00000031597
SMART Domains Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598

transmembrane domain 20 42 N/A INTRINSIC
Pfam:Phospholip_B 62 591 2.9e-179 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066540
AA Change: Q286K

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597
AA Change: Q286K

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

Pfam:PALP 5 101 2.8e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151361
Predicted Effect possibly damaging
Transcript: ENSMUST00000201684
AA Change: Q286K

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597
AA Change: Q286K

Pfam:PALP 5 304 1.5e-76 PFAM
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810013L24Rik T A 16: 8,855,857 V216E probably damaging Het
2310035C23Rik T A 1: 105,719,501 V672D probably damaging Het
4933406M09Rik A G 1: 134,389,928 D146G probably damaging Het
Aatf C T 11: 84,510,273 G174D probably damaging Het
Abcc1 G T 16: 14,410,917 G343C probably damaging Het
Asic2 T C 11: 80,889,820 N370S probably benign Het
Btnl9 T C 11: 49,169,568 E451G probably damaging Het
Cblb A G 16: 52,174,370 H658R possibly damaging Het
Cdca2 T C 14: 67,680,284 E555G possibly damaging Het
Chfr A G 5: 110,153,129 S299G possibly damaging Het
Eea1 A G 10: 96,026,054 E741G probably benign Het
Gapvd1 T C 2: 34,693,433 D1057G probably benign Het
Glyat C T 19: 12,650,281 T80M probably benign Het
Gpr87 T C 3: 59,179,326 S253G probably damaging Het
Hmgxb3 A G 18: 61,162,977 S320P probably damaging Het
Kcnq5 C T 1: 21,479,468 G345D probably damaging Het
Kif5c T C 2: 49,758,858 V938A probably benign Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Madd G T 2: 91,170,635 T467K possibly damaging Het
Mamdc4 T C 2: 25,565,878 D706G probably damaging Het
Map2 A G 1: 66,413,133 H476R probably damaging Het
Mpeg1 T C 19: 12,461,693 S172P probably damaging Het
Nkx2-3 A T 19: 43,612,654 T52S probably benign Het
Nup210 C T 6: 91,085,988 V230I probably damaging Het
Olfr1009 G T 2: 85,722,322 A306S probably benign Het
Olfr348 T A 2: 36,787,181 Y219N probably damaging Het
Olfr568 T C 7: 102,877,893 S258P probably damaging Het
Pepd A G 7: 34,942,690 probably null Het
Ppp1r36 T A 12: 76,437,986 W238R probably damaging Het
Ppp1r36 G T 12: 76,437,987 W238L possibly damaging Het
Prpf6 T G 2: 181,608,165 D39E probably benign Het
Rassf5 T A 1: 131,181,195 Q163L possibly damaging Het
Rbm43 T A 2: 51,925,595 T205S probably benign Het
Robo4 CGG CG 9: 37,411,490 probably null Het
Slc35a3 A T 3: 116,681,190 C184* probably null Het
Smg1 G A 7: 118,139,436 T3530I possibly damaging Het
Sspo T C 6: 48,493,280 V591A probably benign Het
Stam2 T C 2: 52,720,917 D31G probably damaging Het
Star A G 8: 25,809,917 K96E probably damaging Het
Syne3 A G 12: 104,955,672 L495P probably damaging Het
Tceanc2 A T 4: 107,165,649 M47K probably benign Het
Tecpr2 T C 12: 110,914,684 L85P probably damaging Het
Tmem241 C T 18: 12,043,263 R116K probably benign Het
Yipf2 G A 9: 21,592,191 A20V probably benign Het
Zc3h4 T A 7: 16,429,005 D443E unknown Het
Zfp184 T A 13: 21,958,577 V151D probably benign Het
Zhx1 T C 15: 58,053,299 Y517C probably damaging Het
Other mutations in Sds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01715:Sds APN 5 120479207 nonsense probably null
R2567:Sds UTSW 5 120481581 missense probably damaging 1.00
R5682:Sds UTSW 5 120483719 missense possibly damaging 0.95
R6888:Sds UTSW 5 120480900 critical splice donor site probably null
R6958:Sds UTSW 5 120481472 missense probably damaging 0.98
R7030:Sds UTSW 5 120480825 missense probably benign
R7036:Sds UTSW 5 120480847 missense possibly damaging 0.77
R7152:Sds UTSW 5 120481651 splice site probably null
R7422:Sds UTSW 5 120479189 missense probably damaging 1.00
R7883:Sds UTSW 5 120479213 missense possibly damaging 0.92
R8094:Sds UTSW 5 120478936 intron probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-10-05