Incidental Mutation 'IGL02414:Sdsl'
ID 292367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdsl
Ensembl Gene ENSMUSG00000029596
Gene Name serine dehydratase-like
Synonyms SDH1, SDS-RS1, 4432411H13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02414
Quality Score
Status
Chromosome 5
Chromosomal Location 120596251-120610875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120600124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 91 (T91I)
Ref Sequence ENSEMBL: ENSMUSP00000120868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031594] [ENSMUST00000052258] [ENSMUST00000132916]
AlphaFold Q8R238
Predicted Effect probably damaging
Transcript: ENSMUST00000031594
AA Change: T91I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031594
Gene: ENSMUSG00000029596
AA Change: T91I

DomainStartEndE-ValueType
Pfam:PALP 11 310 8.7e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000052258
AA Change: T91I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058198
Gene: ENSMUSG00000029596
AA Change: T91I

DomainStartEndE-ValueType
Pfam:PALP 11 310 7.5e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132916
AA Change: T91I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120868
Gene: ENSMUSG00000029596
AA Change: T91I

DomainStartEndE-ValueType
Pfam:PALP 11 120 2.8e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada C T 2: 163,571,960 (GRCm39) D273N probably benign Het
Btbd9 A C 17: 30,439,533 (GRCm39) C551W possibly damaging Het
Casp2 T A 6: 42,257,380 (GRCm39) L443H probably damaging Het
Cdhr3 A G 12: 33,092,503 (GRCm39) Y703H possibly damaging Het
Clta T C 4: 44,030,274 (GRCm39) probably benign Het
Cstdc2 T G 2: 148,692,598 (GRCm39) K68T possibly damaging Het
Dnah8 A G 17: 30,919,387 (GRCm39) D1120G probably benign Het
Ece2 A G 16: 20,459,456 (GRCm39) D597G probably damaging Het
Etfdh A G 3: 79,511,403 (GRCm39) V526A probably damaging Het
Gm14496 T A 2: 181,633,198 (GRCm39) D60E probably benign Het
Gpr85 A T 6: 13,836,909 (GRCm39) probably benign Het
Hivep1 C A 13: 42,308,385 (GRCm39) S208R probably damaging Het
Kif1b A G 4: 149,283,771 (GRCm39) I1252T probably damaging Het
Knl1 T C 2: 118,900,804 (GRCm39) V835A possibly damaging Het
Or2d4 A T 7: 106,543,965 (GRCm39) M81K probably benign Het
Or5ac25 C T 16: 59,182,077 (GRCm39) C168Y probably damaging Het
Ppwd1 T G 13: 104,359,645 (GRCm39) I119L probably benign Het
Prex1 T C 2: 166,451,748 (GRCm39) K410R probably damaging Het
Prm2 C T 16: 10,609,754 (GRCm39) probably benign Het
Psip1 T C 4: 83,386,874 (GRCm39) T166A probably benign Het
Rtel1 T C 2: 180,977,765 (GRCm39) V98A probably benign Het
Tas2r136 A G 6: 132,754,494 (GRCm39) M211T possibly damaging Het
Trim43c A T 9: 88,723,885 (GRCm39) probably null Het
Ttc1 T C 11: 43,630,664 (GRCm39) probably benign Het
Other mutations in Sdsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01581:Sdsl APN 5 120,597,632 (GRCm39) missense possibly damaging 0.83
G1Funyon:Sdsl UTSW 5 120,597,584 (GRCm39) missense probably benign 0.01
R0487:Sdsl UTSW 5 120,597,533 (GRCm39) missense probably damaging 1.00
R2014:Sdsl UTSW 5 120,601,218 (GRCm39) missense probably damaging 1.00
R2015:Sdsl UTSW 5 120,601,218 (GRCm39) missense probably damaging 1.00
R2188:Sdsl UTSW 5 120,596,485 (GRCm39) missense probably damaging 1.00
R2448:Sdsl UTSW 5 120,596,446 (GRCm39) missense probably benign 0.02
R3833:Sdsl UTSW 5 120,601,183 (GRCm39) missense probably benign 0.08
R4764:Sdsl UTSW 5 120,600,119 (GRCm39) missense probably damaging 1.00
R4949:Sdsl UTSW 5 120,597,870 (GRCm39) missense possibly damaging 0.51
R6364:Sdsl UTSW 5 120,598,674 (GRCm39) missense probably damaging 0.99
R6836:Sdsl UTSW 5 120,600,167 (GRCm39) missense probably benign 0.01
R7226:Sdsl UTSW 5 120,598,702 (GRCm39) missense probably benign 0.01
R8093:Sdsl UTSW 5 120,598,017 (GRCm39) missense probably benign 0.04
R8301:Sdsl UTSW 5 120,597,584 (GRCm39) missense probably benign 0.01
R9351:Sdsl UTSW 5 120,601,159 (GRCm39) missense probably benign 0.11
R9356:Sdsl UTSW 5 120,597,948 (GRCm39) missense probably damaging 1.00
Z1176:Sdsl UTSW 5 120,596,592 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16