Mutagenetix > Incidental Mutation

Incidental Mutation 'R4992:Tgds'

386296

Institutional Source

Beutler Lab

Gene Symbol

Tgds

Ensembl Gene

ENSMUSG00000022130

Gene Name

TDP-glucose 4,6-dehydratase

Synonyms

2610017J16Rik, 2610025M23Rik

MMRRC Submission

042586-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R4992 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118349323-118370167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118355175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 197 (Y197D)

Ref Sequence

ENSEMBL: ENSMUSP00000154426 (fasta)

Gene Model

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

AlphaFold

Q8VDR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022727
AA Change: Y197D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022727
Gene: ENSMUSG00000022130
AA Change: Y197D

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 damaging
Transcript: ENSMUST00000228543
AA Change: Y197D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9646

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (84/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,948,203 (GRCm39)	R700Q	possibly damaging	Het
4930444P10Rik	T	A	1: 16,151,101 (GRCm39)	E27V	probably damaging	Het
Acsm4	T	A	7: 119,310,640 (GRCm39)	I509N	probably benign	Het
Asb18	T	C	1: 89,880,585 (GRCm39)	M143V	probably benign	Het
Birc6	A	G	17: 74,996,251 (GRCm39)	D4475G	probably benign	Het
Bsn	A	T	9: 107,992,747 (GRCm39)	S1002T	probably damaging	Het
Bub3	T	C	7: 131,162,535 (GRCm39)	S33P	probably damaging	Het
Ccna1	T	A	3: 54,957,311 (GRCm39)	R35S	probably damaging	Het
Cdc23	T	A	18: 34,779,972 (GRCm39)	M119L	probably benign	Het
Ces1a	A	G	8: 93,771,650 (GRCm39)	V49A	probably benign	Het
Chi3l1	A	T	1: 134,116,364 (GRCm39)	E282D	probably benign	Het
Crocc	G	A	4: 140,773,977 (GRCm39)	A220V	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
D930020B18Rik	C	G	10: 121,490,666 (GRCm39)	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,490,667 (GRCm39)	P89L	probably damaging	Het
Dennd5a	A	G	7: 109,493,919 (GRCm39)	S1262P	probably damaging	Het
Dnajb5	G	A	4: 42,953,386 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,357,064 (GRCm39)	K200R	unknown	Het
Ect2l	A	G	10: 18,048,477 (GRCm39)	F156S	probably benign	Het
Egf	T	C	3: 129,505,179 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Elmo3	T	A	8: 106,036,133 (GRCm39)	Y607*	probably null	Het
Eno3	A	G	11: 70,549,473 (GRCm39)	D98G	probably damaging	Het
Ephb2	A	G	4: 136,388,150 (GRCm39)	V651A	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gcn1	T	C	5: 115,737,225 (GRCm39)	V1321A	probably benign	Het
Gimd1	A	T	3: 132,340,718 (GRCm39)	Y78F	probably benign	Het
Glmn	T	G	5: 107,705,167 (GRCm39)	D483A	probably damaging	Het
Gsr	C	T	8: 34,183,941 (GRCm39)	T401I	probably damaging	Het
Htr3b	G	A	9: 48,870,518 (GRCm39)	H62Y	possibly damaging	Het
Ifna6	T	C	4: 88,745,777 (GRCm39)	V42A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Inpp4b	A	T	8: 82,759,837 (GRCm39)	R627S	probably damaging	Het
Kif13a	C	T	13: 46,930,639 (GRCm39)	V142M	probably damaging	Het
Lims1	A	C	10: 58,246,063 (GRCm39)		probably benign	Het
Ltn1	T	C	16: 87,202,475 (GRCm39)	T1059A	possibly damaging	Het
Lyst	T	C	13: 13,835,748 (GRCm39)	L1810P	probably damaging	Het
Mboat1	T	G	13: 30,386,343 (GRCm39)	I119R	possibly damaging	Het
Mgat3	T	A	15: 80,096,743 (GRCm39)	D523E	probably benign	Het
Mphosph9	T	C	5: 124,442,253 (GRCm39)	E395G	probably damaging	Het
Mtcl1	G	T	17: 66,649,834 (GRCm39)	P1877Q	probably damaging	Het
Myo6	T	C	9: 80,190,792 (GRCm39)	V781A	possibly damaging	Het
Ncoa3	T	A	2: 165,911,859 (GRCm39)	M1395K	probably benign	Het
Nhlrc2	T	A	19: 56,558,966 (GRCm39)	D150E	probably benign	Het
Nlrp9a	T	C	7: 26,256,811 (GRCm39)	V54A	probably benign	Het
Or1e32	G	A	11: 73,705,146 (GRCm39)	T254I	probably damaging	Het
Or3a1d	A	G	11: 74,238,023 (GRCm39)	I129T	probably damaging	Het
Parp14	A	T	16: 35,661,512 (GRCm39)	C1479S	probably benign	Het
Pdcd1lg2	T	C	19: 29,423,484 (GRCm39)	V176A	probably damaging	Het
Pibf1	T	A	14: 99,388,103 (GRCm39)	N416K	probably damaging	Het
Pip4p1	A	G	14: 51,166,690 (GRCm39)	V179A	probably damaging	Het
Polb	A	T	8: 23,135,087 (GRCm39)	V115E	probably damaging	Het
Polq	T	A	16: 36,881,524 (GRCm39)	N1229K	possibly damaging	Het
Ppp1r21	A	T	17: 88,876,508 (GRCm39)	D440V	probably benign	Het
Ppp2ca	T	A	11: 52,004,033 (GRCm39)	H63Q	possibly damaging	Het
Prl7a1	C	T	13: 27,819,669 (GRCm39)		probably null	Het
Rgs1	C	A	1: 144,122,060 (GRCm39)	K77N	probably damaging	Het
Rnf112	T	A	11: 61,343,537 (GRCm39)	I100F	possibly damaging	Het
Rnf139	G	T	15: 58,770,325 (GRCm39)	E117*	probably null	Het
Robo1	G	A	16: 72,776,756 (GRCm39)	V743I	probably damaging	Het
Scarf1	T	C	11: 75,413,056 (GRCm39)	L434P	probably damaging	Het
Scarf1	T	C	11: 75,416,841 (GRCm39)	V761A	probably benign	Het
Sgsm1	A	T	5: 113,430,486 (GRCm39)	S300T	possibly damaging	Het
Slc26a7	T	G	4: 14,565,508 (GRCm39)	T192P	probably damaging	Het
Smarcc2	A	G	10: 128,310,579 (GRCm39)	K403E	probably damaging	Het
Snai3	G	A	8: 123,183,071 (GRCm39)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
Sptlc3	G	A	2: 139,437,923 (GRCm39)	V406I	probably benign	Het
Tll1	G	T	8: 64,546,978 (GRCm39)	R323S	probably damaging	Het
Trim14	A	G	4: 46,507,110 (GRCm39)	Y369H	probably damaging	Het
Ube2nl	C	T	7: 61,199,112 (GRCm39)		noncoding transcript	Het
Ube3a	T	A	7: 58,934,568 (GRCm39)	D560E	possibly damaging	Het
Vmn2r10	A	G	5: 109,145,592 (GRCm39)	V505A	possibly damaging	Het
Vmn2r114	T	G	17: 23,510,765 (GRCm39)	I572L	probably benign	Het
Vmn2r26	A	T	6: 124,003,070 (GRCm39)	Q160L	probably benign	Het
Vmn2r75	A	C	7: 85,815,375 (GRCm39)		probably null	Het
Vps8	A	G	16: 21,280,158 (GRCm39)	K336E	possibly damaging	Het
Zfp324	T	C	7: 12,703,300 (GRCm39)	S32P	probably benign	Het
Zfp366	T	C	13: 99,366,003 (GRCm39)	I388T	possibly damaging	Het
Zfp68	A	T	5: 138,605,599 (GRCm39)	N203K	possibly damaging	Het
Zhx2	A	T	15: 57,686,983 (GRCm39)	N784I	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
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
R9786:Tgds	UTSW	14	118,368,049 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCCAGGCAGTGTAAGTCTG -3'
(R):5'- GGGATTCACAACGGGAAATTCC -3'

Sequencing Primer
(F):5'- TCTGAAGAGATGCGCATGC -3'
(R):5'- TTATATGCTACATTACACACACACAC -3'

Posted On

2016-05-10