Incidental Mutation 'IGL02134:Tgds'
ID281233
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: 0.609) question?
Stock #IGL02134
Quality Score
Status
Chromosome14
Chromosomal Location118111911-118132755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118113122 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 340 (N340D)
Ref Sequence ENSEMBL: ENSMUSP00000022727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022727] [ENSMUST00000227350] [ENSMUST00000228543]
Predicted Effect probably benign
Transcript: ENSMUST00000022727
AA Change: N340D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022727
Gene: ENSMUSG00000022130
AA Change: N340D

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,669,690 N168S probably damaging Het
Angptl3 A T 4: 99,031,112 R36S probably damaging Het
Ap5z1 T C 5: 142,474,459 F514L probably benign Het
Arhgef39 C A 4: 43,497,578 probably null Het
Aste1 A G 9: 105,397,844 S11G probably damaging Het
Cadm4 T C 7: 24,499,561 V87A probably benign Het
Cd177 A G 7: 24,752,352 I413T probably benign Het
Col5a2 A G 1: 45,391,070 probably null Het
Dera C T 6: 137,830,271 A239V probably damaging Het
Ecm1 T C 3: 95,736,187 E283G probably damaging Het
Eml6 G T 11: 29,759,066 H24N probably benign Het
Etl4 A G 2: 20,806,429 K1425E possibly damaging Het
Fgd3 G A 13: 49,296,749 S8L possibly damaging Het
Gli1 T C 10: 127,336,500 E228G probably benign Het
Hivep3 A G 4: 120,133,574 probably benign Het
Iqcc A G 4: 129,619,025 S11P probably damaging Het
Itpkc G A 7: 27,227,875 Q205* probably null Het
Jmjd1c T A 10: 67,220,392 S530R possibly damaging Het
Kcnq1 A G 7: 143,183,716 H257R possibly damaging Het
Kcnt2 G A 1: 140,376,383 V164I probably benign Het
Lgr5 T C 10: 115,452,858 H603R possibly damaging Het
Lrp2 T C 2: 69,513,379 probably null Het
Lrrn2 A G 1: 132,937,817 M207V possibly damaging Het
Miip A G 4: 147,865,278 probably benign Het
Mrps35 T C 6: 147,048,310 probably benign Het
Nuf2 A T 1: 169,513,500 M184K probably benign Het
Olfr113 C T 17: 37,575,358 E22K probably benign Het
Olfr1234 A T 2: 89,362,828 N200K probably damaging Het
Olfr1494 C A 19: 13,749,801 R232S probably benign Het
Olfr452 A G 6: 42,790,464 T142A probably benign Het
Olfr951 A T 9: 39,394,534 I248F probably damaging Het
Os9 T C 10: 127,120,992 I42V possibly damaging Het
Rapgef4 A C 2: 72,180,061 Q177P probably damaging Het
Rhpn2 T C 7: 35,371,111 probably benign Het
Scn5a T C 9: 119,485,892 R1916G probably damaging Het
Serpine1 T A 5: 137,067,035 probably benign Het
Snd1 C T 6: 28,880,279 P684L possibly damaging Het
Trpc4 A T 3: 54,315,654 Y706F possibly damaging Het
Ttn T A 2: 76,753,822 D22314V probably damaging Het
Utrn G A 10: 12,643,419 T2263I probably damaging Het
Vmn1r11 A T 6: 57,138,037 T229S possibly damaging Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Zfp219 A G 14: 52,009,301 L78P probably damaging Het
Zfp629 T A 7: 127,611,870 T256S probably benign 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
IGL01928:Tgds APN 14 118116129 missense probably benign 0.04
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 On2015-04-16