Incidental Mutation 'IGL01473:Tgds'
ID 88364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgds
Ensembl Gene ENSMUSG00000022130
Gene Name TDP-glucose 4,6-dehydratase
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.704) question?
Stock # IGL01473
Quality Score
Status
Chromosome 14
Chromosomal Location 118111911-118132755 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 118128214 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022727] [ENSMUST00000227350] [ENSMUST00000228543]
AlphaFold Q8VDR7
Predicted Effect probably benign
Transcript: ENSMUST00000022727
SMART Domains Protein: ENSMUSP00000022727
Gene: ENSMUSG00000022130

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 probably benign
Transcript: ENSMUST00000227350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228085
Predicted Effect probably benign
Transcript: ENSMUST00000228543
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T C 16: 29,316,724 Y350C probably damaging Het
Ccdc151 C A 9: 21,995,379 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Clcn1 C A 6: 42,291,703 A181D probably damaging Het
Cylc1 G T X: 111,122,680 K243N unknown Het
Dsp A G 13: 38,167,571 Y122C probably damaging Het
Exoc5 A G 14: 49,014,294 V665A possibly damaging Het
Fcho1 G A 8: 71,712,138 P500S probably benign Het
Flg2 A G 3: 93,203,020 E785G unknown Het
Fpr1 A G 17: 17,877,692 S12P possibly damaging Het
Hydin A T 8: 110,312,160 M177L probably benign Het
Hydin G T 8: 110,354,953 G327V probably damaging Het
Itga10 G A 3: 96,647,641 G97E probably damaging Het
Khdc1c T A 1: 21,368,906 Y39N possibly damaging Het
Lrp1b T G 2: 40,611,486 T202P probably damaging Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mdc1 C A 17: 35,848,020 L431I probably benign Het
Mmp17 A G 5: 129,606,408 D536G probably benign Het
Myh8 G A 11: 67,301,825 probably null Het
Pop4 A G 7: 38,264,396 V154A probably benign Het
Ppp1r13l C T 7: 19,375,268 R608C probably damaging Het
Prss36 T C 7: 127,944,701 H166R probably damaging Het
Rab11fip3 C T 17: 26,068,735 R148Q possibly damaging Het
Rbm39 T A 2: 156,172,979 R49* probably null Het
S100a11 T C 3: 93,526,106 C86R probably damaging Het
Skint7 T C 4: 111,982,205 I232T probably damaging Het
Smchd1 G A 17: 71,389,750 T1210I probably benign Het
Speg C T 1: 75,428,285 T2907I possibly damaging Het
Spz1 A T 13: 92,575,256 C237* probably null Het
Sun3 G T 11: 9,029,394 D42E probably benign Het
Tnxb G A 17: 34,685,701 D1270N probably damaging Het
Vmn2r78 A C 7: 86,920,312 T138P possibly damaging Het
Wdfy1 T C 1: 79,707,465 I351V probably benign Het
Other mutations in Tgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Tgds APN 14 118113094 missense probably damaging 1.00
IGL01928:Tgds APN 14 118116129 missense probably benign 0.04
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
R9478:Tgds UTSW 14 118115132 missense possibly damaging 0.94
R9786:Tgds UTSW 14 118130637 nonsense probably null
Posted On 2013-11-18