Incidental Mutation 'IGL01928:Tgds'
ID180357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgds
Ensembl Gene ENSMUSG00000022130
Gene NameTDP-glucose 4,6-dehydratase
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.679) question?
Stock #IGL01928
Quality Score
Status
Chromosome14
Chromosomal Location118111911-118132755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118116129 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 259 (T259A)
Ref Sequence ENSEMBL: ENSMUSP00000154426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022727] [ENSMUST00000227350] [ENSMUST00000228543]
Predicted Effect probably benign
Transcript: ENSMUST00000022727
AA Change: T259A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022727
Gene: ENSMUSG00000022130
AA Change: T259A

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 18 333 2.9e-27 PFAM
Pfam:Epimerase 20 258 3.2e-61 PFAM
Pfam:Polysacc_synt_2 20 300 2.6e-27 PFAM
Pfam:3Beta_HSD 21 248 3.2e-29 PFAM
Pfam:GDP_Man_Dehyd 21 327 2.3e-77 PFAM
Pfam:NAD_binding_4 22 230 9e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180772
Predicted Effect probably benign
Transcript: ENSMUST00000227350
Predicted Effect probably benign
Transcript: ENSMUST00000228543
AA Change: T259A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,683,342 T5024S probably benign Het
Adam23 C A 1: 63,557,446 N562K probably damaging Het
Brd9 G A 13: 73,955,511 M503I probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp2j8 A T 4: 96,470,476 probably benign Het
Erich6 T C 3: 58,621,271 I519M probably damaging Het
Fscn3 A G 6: 28,430,182 E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm45234 A G 6: 124,745,004 probably benign Het
Ighv1-47 T A 12: 114,991,293 M56L probably benign Het
Klf4 A G 4: 55,530,949 L45P probably benign Het
Ksr1 A C 11: 79,044,839 probably null Het
L3mbtl3 T C 10: 26,330,245 N341S unknown Het
Mfsd12 T C 10: 81,365,788 probably benign Het
Nlrp9c A T 7: 26,375,422 probably benign Het
Ntrk2 T A 13: 58,846,851 C194S probably damaging Het
Olfm4 G A 14: 80,011,952 V170I possibly damaging Het
Olfr936 A C 9: 39,047,413 D46E unknown Het
Onecut1 C A 9: 74,889,533 Q445K possibly damaging Het
Pak6 A G 2: 118,689,864 Q112R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rapgef2 C T 3: 79,103,963 E124K probably damaging Het
Snx14 T C 9: 88,381,512 T893A probably benign Het
Spag17 T C 3: 99,940,074 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zc3h12a A G 4: 125,119,986 S362P probably benign Het
Zfyve16 A G 13: 92,504,498 I1246T probably damaging Het
Other mutations in Tgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Tgds APN 14 118128214 splice site probably benign
IGL01521:Tgds APN 14 118113094 missense probably damaging 1.00
IGL02134:Tgds APN 14 118113122 missense probably benign 0.03
IGL03353:Tgds APN 14 118127507 nonsense probably null
R0079:Tgds UTSW 14 118116235 missense possibly damaging 0.76
R2005:Tgds UTSW 14 118130656 missense possibly damaging 0.51
R2104:Tgds UTSW 14 118121737 nonsense probably null
R4676:Tgds UTSW 14 118116231 missense probably benign 0.01
R4801:Tgds UTSW 14 118117033 intron probably benign
R4992:Tgds UTSW 14 118117763 missense probably damaging 1.00
R5051:Tgds UTSW 14 118128227 missense probably damaging 1.00
R5083:Tgds UTSW 14 118116079 splice site probably null
R5802:Tgds UTSW 14 118132707 missense probably benign 0.00
Posted On2014-05-07