Mutagenetix > Incidental Mutation

Incidental Mutation 'R5083:Tgds'

387275

Institutional Source

Beutler Lab

Gene Symbol

Tgds

Ensembl Gene

ENSMUSG00000022130

Gene Name

TDP-glucose 4,6-dehydratase

Synonyms

2610017J16Rik, 2610025M23Rik

MMRRC Submission

042672-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R5083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118349323-118370167 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 118353491 bp (GRCm39)

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 null
Transcript: ENSMUST00000022727

SMART Domains

Protein: ENSMUSP00000022727
Gene: ENSMUSG00000022130

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000228543

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	C	T	17: 48,473,558 (GRCm39)	V120M	possibly damaging	Het
Abca6	T	C	11: 110,109,793 (GRCm39)	D646G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arid1b	A	G	17: 5,364,293 (GRCm39)	T554A	possibly damaging	Het
Atp2a3	G	T	11: 72,873,652 (GRCm39)	V824L	probably null	Het
Bet1	T	C	6: 4,077,895 (GRCm39)	I115V	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cfap65	A	G	1: 74,945,600 (GRCm39)	S1373P	probably damaging	Het
Chd9	T	C	8: 91,711,002 (GRCm39)	L353P	probably damaging	Het
Chil3	C	A	3: 106,071,405 (GRCm39)		probably null	Het
Comp	C	T	8: 70,833,950 (GRCm39)	T655M	probably damaging	Het
Dctd	T	C	8: 48,564,751 (GRCm39)	Y18H	probably damaging	Het
Ddx39b	G	A	17: 35,472,005 (GRCm39)	G348D	possibly damaging	Het
Dhx36	A	T	3: 62,379,420 (GRCm39)	S889R	probably benign	Het
Dtx2	T	C	5: 136,041,044 (GRCm39)	Y150H	probably damaging	Het
Epx	A	G	11: 87,763,506 (GRCm39)	F238S	probably damaging	Het
Ergic2	T	C	6: 148,097,512 (GRCm39)	T154A	probably benign	Het
Esco1	A	G	18: 10,594,734 (GRCm39)	I184T	probably benign	Het
Esf1	G	T	2: 139,998,991 (GRCm39)	A495E	possibly damaging	Het
Esf1	T	C	2: 140,000,499 (GRCm39)	Y429C	possibly damaging	Het
Fcho1	C	A	8: 72,169,820 (GRCm39)	R101L	probably benign	Het
Foxn4	T	A	5: 114,394,988 (GRCm39)	D313V	probably damaging	Het
Gm11568	T	C	11: 99,748,798 (GRCm39)	M1T	probably null	Het
Gphn	T	A	12: 78,670,063 (GRCm39)		probably null	Het
Grid2	C	T	6: 64,297,136 (GRCm39)	Q500*	probably null	Het
Igsf10	A	G	3: 59,233,694 (GRCm39)	S1680P	probably damaging	Het
Ints12	T	C	3: 132,806,538 (GRCm39)	M155T	possibly damaging	Het
Invs	A	T	4: 48,396,307 (GRCm39)	M327L	possibly damaging	Het
Kdm3a	T	C	6: 71,598,346 (GRCm39)	E180G	probably damaging	Het
Mgat3	G	A	15: 80,095,499 (GRCm39)	V109M	possibly damaging	Het
Mrgprb3	A	G	7: 48,292,762 (GRCm39)	V263A	probably benign	Het
Mroh7	A	T	4: 106,547,515 (GRCm39)	V1109D	probably benign	Het
Myo15b	A	T	11: 115,757,482 (GRCm39)	T1111S	probably benign	Het
Myo19	G	T	11: 84,794,037 (GRCm39)	A654S	possibly damaging	Het
Mypn	A	T	10: 62,954,307 (GRCm39)	V1224D	probably damaging	Het
Nalcn	A	G	14: 123,560,706 (GRCm39)		probably null	Het
Or2a52	G	T	6: 43,144,273 (GRCm39)	A94S	probably benign	Het
Or52e7	A	T	7: 104,684,618 (GRCm39)	Y71F	probably damaging	Het
Or8c10	G	A	9: 38,279,358 (GRCm39)	C172Y	possibly damaging	Het
Pdcd2	A	G	17: 15,743,084 (GRCm39)	I247T	possibly damaging	Het
Pik3c2a	A	T	7: 115,941,636 (GRCm39)	N1571K	probably damaging	Het
Plagl2	T	C	2: 153,077,964 (GRCm39)	T6A	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sdccag8	C	A	1: 176,652,458 (GRCm39)	H70N	probably damaging	Het
Skint1	A	G	4: 111,886,630 (GRCm39)	R359G	probably benign	Het
Slc44a5	A	T	3: 153,953,424 (GRCm39)	I269L	probably benign	Het
Slfn10-ps	T	A	11: 82,921,341 (GRCm39)		noncoding transcript	Het
Suclg1	C	A	6: 73,240,963 (GRCm39)	T164K	probably benign	Het
Ttn	T	C	2: 76,643,877 (GRCm39)	D13117G	probably damaging	Het
Ttn	T	C	2: 76,701,081 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,483,671 (GRCm39)	I843N	possibly damaging	Het
Vmn2r52	A	T	7: 9,893,392 (GRCm39)	Y582*	probably null	Het
Vps33b	G	T	7: 79,924,389 (GRCm39)	K65N	probably damaging	Het
Zfp1010	A	G	2: 176,957,364 (GRCm39)	F45L	probably damaging	Het

Other mutations in Tgds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Tgds	APN	14	118,365,626 (GRCm39)	splice site	probably benign
IGL01521:Tgds	APN	14	118,350,506 (GRCm39)	missense	probably damaging	1.00
IGL01928:Tgds	APN	14	118,353,541 (GRCm39)	missense	probably benign	0.04
IGL02134:Tgds	APN	14	118,350,534 (GRCm39)	missense	probably benign	0.03
IGL03353:Tgds	APN	14	118,364,919 (GRCm39)	nonsense	probably null
R0079:Tgds	UTSW	14	118,353,647 (GRCm39)	missense	possibly damaging	0.76
R2005:Tgds	UTSW	14	118,368,068 (GRCm39)	missense	possibly damaging	0.51
R2104:Tgds	UTSW	14	118,359,149 (GRCm39)	nonsense	probably null
R4676:Tgds	UTSW	14	118,353,643 (GRCm39)	missense	probably benign	0.01
R4801:Tgds	UTSW	14	118,354,445 (GRCm39)	intron	probably benign
R4992:Tgds	UTSW	14	118,355,175 (GRCm39)	missense	probably damaging	1.00
R5051:Tgds	UTSW	14	118,365,639 (GRCm39)	missense	probably damaging	1.00
R5802:Tgds	UTSW	14	118,370,119 (GRCm39)	missense	probably benign	0.00
R9478:Tgds	UTSW	14	118,352,544 (GRCm39)	missense	possibly damaging	0.94
R9786:Tgds	UTSW	14	118,368,049 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGTGAACGGTATACAGTGACTC -3'
(R):5'- ACTTAGCTGTATTCATGGATCAGG -3'

Sequencing Primer
(F):5'- GAGAAATGTCCCCTATTCGCTAGTG -3'
(R):5'- GGGCTTCAAAGGAGAAACTTCCTC -3'

Posted On

2016-06-06