Incidental Mutation 'R2567:Sds'
ID 254544
Institutional Source Beutler Lab
Gene Symbol Sds
Ensembl Gene ENSMUSG00000029597
Gene Name serine dehydratase
Synonyms SDH
MMRRC Submission 040426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R2567 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 120614612-120621997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120619646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 185 (W185L)
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 damaging
Transcript: ENSMUST00000066540
AA Change: W185L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597
AA Change: W185L

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 noncoding transcript
Transcript: ENSMUST00000124978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131831
Predicted Effect probably damaging
Transcript: ENSMUST00000201684
AA Change: W185L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597
AA Change: W185L

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,836,475 (GRCm39) probably benign Het
Aebp1 A G 11: 5,820,251 (GRCm39) D409G probably benign Het
Akap10 A G 11: 61,784,175 (GRCm39) probably benign Het
Akap6 G T 12: 52,985,156 (GRCm39) S863I probably damaging Het
Ap1s3 T C 1: 79,602,921 (GRCm39) K29E possibly damaging Het
Atm T A 9: 53,368,770 (GRCm39) I2341L possibly damaging Het
Atp12a A T 14: 56,624,384 (GRCm39) D944V probably damaging Het
Baz2b A T 2: 59,744,255 (GRCm39) S1417T possibly damaging Het
Cacna1a T A 8: 85,276,354 (GRCm39) M613K probably damaging Het
Ccdc191 A C 16: 43,764,330 (GRCm39) probably null Het
Cd209d T A 8: 3,926,327 (GRCm39) N96I probably damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdk4 T G 10: 126,900,145 (GRCm39) V14G probably benign Het
Chrna10 C A 7: 101,761,276 (GRCm39) M438I probably benign Het
Clec10a T C 11: 70,060,358 (GRCm39) probably null Het
Cog3 A G 14: 75,991,730 (GRCm39) V40A probably benign Het
Creb3l3 T C 10: 80,921,883 (GRCm39) H315R probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cubn A G 2: 13,283,167 (GRCm39) probably null Het
Cygb T C 11: 116,540,692 (GRCm39) D98G probably damaging Het
Dmbx1 T C 4: 115,777,489 (GRCm39) K120E probably damaging Het
Dnah3 T A 7: 119,551,920 (GRCm39) I2800F possibly damaging Het
Dntt G T 19: 41,029,775 (GRCm39) R245L possibly damaging Het
Dock1 T G 7: 134,747,213 (GRCm39) V1508G probably damaging Het
Enpp4 A C 17: 44,412,736 (GRCm39) I266R probably damaging Het
Fhl4 T C 10: 84,934,644 (GRCm39) I46V possibly damaging Het
Fn1 G A 1: 71,636,895 (GRCm39) Q1995* probably null Het
Foxl3 A G 5: 138,805,940 (GRCm39) S36G probably null Het
Foxo1 T A 3: 52,176,755 (GRCm39) L178H probably damaging Het
Galnt18 C T 7: 111,153,823 (GRCm39) R267H probably damaging Het
Gm1110 T C 9: 26,831,992 (GRCm39) D53G probably benign Het
Gm7104 A T 12: 88,252,242 (GRCm39) noncoding transcript Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Haus6 C A 4: 86,504,122 (GRCm39) E501* probably null Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Kdelr3 A G 15: 79,407,032 (GRCm39) I38V probably benign Het
Lamb1 A G 12: 31,319,054 (GRCm39) probably null Het
Larp7-ps T C 4: 92,079,560 (GRCm39) E87G probably benign Het
Mgat4c T A 10: 102,214,123 (GRCm39) F35L probably benign Het
Mmab A T 5: 114,571,378 (GRCm39) M166K probably benign Het
Mrpl2 A G 17: 46,958,427 (GRCm39) T70A probably benign Het
Naa11 C T 5: 97,539,618 (GRCm39) G180D probably benign Het
Npy6r T C 18: 44,408,888 (GRCm39) V103A possibly damaging Het
Nup188 A T 2: 30,231,794 (GRCm39) R1463W possibly damaging Het
Nusap1 T A 2: 119,474,311 (GRCm39) S336R possibly damaging Het
Or8b12c T A 9: 37,715,509 (GRCm39) F101I probably damaging Het
Pabpc4 T A 4: 123,191,744 (GRCm39) L589Q probably damaging Het
Pcdh12 T A 18: 38,415,149 (GRCm39) N659Y probably damaging Het
Perm1 T C 4: 156,301,575 (GRCm39) S40P probably damaging Het
Phldb1 T C 9: 44,637,322 (GRCm39) T114A probably damaging Het
Pirt C T 11: 66,816,985 (GRCm39) L99F probably damaging Het
Plxdc2 A G 2: 16,716,995 (GRCm39) R360G probably benign Het
Rhpn2 G A 7: 35,080,957 (GRCm39) probably null Het
Rpusd2 T A 2: 118,867,556 (GRCm39) I268N probably damaging Het
Serpinb5 A G 1: 106,802,876 (GRCm39) K137R probably benign Het
Sh3pxd2a A G 19: 47,413,008 (GRCm39) V25A possibly damaging Het
Slc1a2 C T 2: 102,597,355 (GRCm39) T454I probably damaging Het
Slc25a40 T C 5: 8,480,459 (GRCm39) C70R probably damaging Het
Smoc1 G A 12: 81,214,364 (GRCm39) E260K probably damaging Het
Sparcl1 A T 5: 104,232,954 (GRCm39) F616I probably damaging Het
Ssc5d A T 7: 4,939,334 (GRCm39) D590V probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm2 C T 10: 77,777,008 (GRCm39) V430M probably damaging Het
Ttn T C 2: 76,574,672 (GRCm39) D25407G probably damaging Het
Vmn2r68 T C 7: 84,883,803 (GRCm39) I101V probably benign Het
Xrcc4 A T 13: 90,210,261 (GRCm39) M61K probably damaging Het
Zfp648 A G 1: 154,080,695 (GRCm39) T285A probably damaging Het
Other mutations in Sds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01715:Sds APN 5 120,617,272 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- ATCATTGCCTGGGATAGAAGG -3'
(R):5'- TACACATAGGCACGCAGCTC -3'

Sequencing Primer
(F):5'- AGTCAGCATCTTTGGCCAG -3'
(R):5'- GCTCCCGAAGCCTCAATC -3'
Posted On 2014-12-04