Mutagenetix > Incidental Mutation

Incidental Mutation 'R9786:Tgds'

734357

Institutional Source

Beutler Lab

Gene Symbol

Tgds

Ensembl Gene

ENSMUSG00000022130

Gene Name

TDP-glucose 4,6-dehydratase

Synonyms

2610017J16Rik, 2610025M23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R9786 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118349323-118370167 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 118368049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 41 (Y41*)

Ref Sequence

ENSEMBL: ENSMUSP00000022727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022727] [ENSMUST00000227350] [ENSMUST00000228543]

AlphaFold

Q8VDR7

Predicted Effect

probably null
Transcript: ENSMUST00000022727
AA Change: Y41*

SMART Domains

Protein: ENSMUSP00000022727
Gene: ENSMUSG00000022130
AA Change: Y41*

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

probably null
Transcript: ENSMUST00000227350
AA Change: Y41*

Predicted Effect

probably null
Transcript: ENSMUST00000228543
AA Change: Y41*

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,536 (GRCm39)	M232K	possibly damaging	Het
Abcc1	T	C	16: 14,222,927 (GRCm39)	S243P	probably damaging	Het
Acsl1	T	C	8: 46,974,486 (GRCm39)	Y320H	probably damaging	Het
Adam11	A	G	11: 102,653,090 (GRCm39)	S61G	probably benign	Het
Adamts1	G	A	16: 85,592,302 (GRCm39)	T965I	probably benign	Het
Adcyap1r1	T	A	6: 55,456,182 (GRCm39)	M190K	probably damaging	Het
Ankrd2	T	A	19: 42,033,358 (GRCm39)	L300Q		Het
Ankrd27	A	T	7: 35,291,294 (GRCm39)	Q30L	possibly damaging	Het
Atp8b5	T	A	4: 43,305,798 (GRCm39)	I114K	probably damaging	Het
Atrn	A	T	2: 130,786,809 (GRCm39)	I205F	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,311,692 (GRCm39)	R677H		Het
Calhm6	A	G	10: 34,003,643 (GRCm39)	F88S	probably benign	Het
Ccdc121rt3	T	A	5: 112,502,939 (GRCm39)	E255V	probably benign	Het
Dpysl3	G	T	18: 43,462,922 (GRCm39)	T485K	probably damaging	Het
Esyt3	T	C	9: 99,194,038 (GRCm39)	D867G	possibly damaging	Het
Fam178b	G	A	1: 36,603,517 (GRCm39)	T478I	probably damaging	Het
Foxd2	G	T	4: 114,764,850 (GRCm39)	T390K	possibly damaging	Het
Furin	A	G	7: 80,040,645 (GRCm39)	V731A	probably benign	Het
Grin2a	T	A	16: 9,471,466 (GRCm39)	I601F	possibly damaging	Het
Hat1	G	A	2: 71,250,959 (GRCm39)	R169Q	possibly damaging	Het
Ighe	G	C	12: 113,236,851 (GRCm39)	Q6E		Het
Ighv8-2	T	C	12: 114,426,179 (GRCm39)	I31V	probably benign	Het
Klk1	A	G	7: 43,878,104 (GRCm39)	D120G	probably damaging	Het
Kmt2e	A	G	5: 23,702,982 (GRCm39)	D1054G	probably benign	Het
Lamp5	A	T	2: 135,910,998 (GRCm39)	I244F	probably damaging	Het
Maco1	A	T	4: 134,557,993 (GRCm39)	Y173*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mfsd4b1	T	C	10: 39,878,865 (GRCm39)	E344G	probably damaging	Het
Mns1	A	G	9: 72,346,556 (GRCm39)	K13R	probably benign	Het
Mrpl43	C	T	19: 44,994,346 (GRCm39)	S91N	probably benign	Het
Mtbp	T	C	15: 55,481,032 (GRCm39)	S706P	probably benign	Het
Nelfb	A	T	2: 25,095,145 (GRCm39)	V348D	probably damaging	Het
Or1l8	T	A	2: 36,817,416 (GRCm39)	K237*	probably null	Het
Or5p72	A	T	7: 108,021,924 (GRCm39)	I49F	probably benign	Het
Or7g20	C	T	9: 18,947,241 (GRCm39)	A274V	possibly damaging	Het
Or8k18	G	A	2: 86,085,428 (GRCm39)	S203L	probably benign	Het
Or8s8	T	C	15: 98,354,713 (GRCm39)	I174T	possibly damaging	Het
Pde6c	T	C	19: 38,140,009 (GRCm39)	I324T	possibly damaging	Het
Phlpp2	T	A	8: 110,660,655 (GRCm39)	L770*	probably null	Het
Pik3c2b	T	A	1: 133,019,338 (GRCm39)	F1029I	possibly damaging	Het
Rfx2	A	T	17: 57,087,890 (GRCm39)	S500R	probably benign	Het
Sarm1	T	C	11: 78,365,743 (GRCm39)	M761V	probably benign	Het
Serpina1a	A	G	12: 103,822,140 (GRCm39)	L264P	possibly damaging	Het
Slc37a1	G	T	17: 31,556,965 (GRCm39)	G377V	probably damaging	Het
Slc38a4	T	A	15: 96,906,378 (GRCm39)	M364L	probably damaging	Het
Slc7a15	A	G	12: 8,580,280 (GRCm39)	F384S	probably benign	Het
Smyd4	T	C	11: 75,281,625 (GRCm39)	V366A	probably benign	Het
Spata31d1b	T	A	13: 59,866,155 (GRCm39)	V1101D	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,498 (GRCm39)	D441N	possibly damaging	Het
Stab2	C	A	10: 86,757,997 (GRCm39)	M1090I	probably benign	Het
Tex15	C	T	8: 34,062,457 (GRCm39)	T903I	probably damaging	Het
Tle4	G	T	19: 14,495,304 (GRCm39)	H142N	probably benign	Het
Tlx2	T	C	6: 83,046,274 (GRCm39)		probably null	Het
Tmem151a	C	G	19: 5,131,869 (GRCm39)	A446P	probably damaging	Het
Tmem205	A	T	9: 21,832,496 (GRCm39)	D138E	probably damaging	Het
Tmprss9	A	G	10: 80,734,042 (GRCm39)	K1009E	unknown	Het
Tnk2	T	A	16: 32,498,875 (GRCm39)	C729*	probably null	Het
Trim46	T	A	3: 89,142,399 (GRCm39)	D696V	probably damaging	Het
Tuba3b	G	A	6: 145,564,482 (GRCm39)	R84Q	probably benign	Het
Unc119b	C	T	5: 115,263,521 (GRCm39)	D228N	probably damaging	Het
Usp17la	A	G	7: 104,510,864 (GRCm39)	T490A	probably benign	Het
Zfp267	T	A	3: 36,219,853 (GRCm39)	C625*	probably null	Het
Zfp687	C	T	3: 94,919,768 (GRCm39)	M1I	probably null	Het
Zfp729a	T	C	13: 67,768,628 (GRCm39)	T534A	possibly damaging	Het
Zfp985	A	T	4: 147,668,047 (GRCm39)	H305L	probably benign	Het
Zscan10	C	T	17: 23,828,330 (GRCm39)	Q291*	probably null	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
R5083:Tgds	UTSW	14	118,353,491 (GRCm39)	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TGACAATGCAGACCCTGAGAG -3'
(R):5'- CAGTTTTATGTGGCACAGGGAAG -3'

Sequencing Primer
(F):5'- AGACCCTGAGAGGCTGG -3'
(R):5'- TTTATGTGGCACAGGGAAGATACAAG -3'

Posted On

2022-11-14