Mutagenetix > Incidental Mutation

Incidental Mutation 'R5571:Gmds'

435687

Institutional Source

Beutler Lab

Gene Symbol

Gmds

Ensembl Gene

ENSMUSG00000038372

Gene Name

GDP-mannose 4, 6-dehydratase

Synonyms

MMRRC Submission

044395-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32003562-32522723 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 32101704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041859]

AlphaFold

Q8K0C9

Predicted Effect

probably null
Transcript: ENSMUST00000041859

SMART Domains

Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	24	229	4.3e-8	PFAM
Pfam:Epimerase	26	274	2.2e-76	PFAM
Pfam:GDP_Man_Dehyd	27	358	7.2e-167	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	T	3: 59,784,640 (GRCm39)	H371L	probably damaging	Het
Atad5	T	C	11: 80,002,382 (GRCm39)	V1058A	probably benign	Het
Baiap2l2	T	C	15: 79,155,783 (GRCm39)	H97R	probably damaging	Het
Bax	A	G	7: 45,111,315 (GRCm39)	S184P	probably damaging	Het
Bsph1	T	G	7: 13,184,840 (GRCm39)	M1R	probably null	Het
Cbln2	A	G	18: 86,731,273 (GRCm39)	D27G	probably benign	Het
Cntnap3	G	A	13: 65,051,572 (GRCm39)	A28V	probably damaging	Het
Col6a3	C	A	1: 90,715,938 (GRCm39)	R1641L	unknown	Het
Dhrs3	T	G	4: 144,620,134 (GRCm39)	I17S	probably benign	Het
Ep300	T	C	15: 81,527,418 (GRCm39)		probably benign	Het
Epb41	T	C	4: 131,664,717 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,064,423 (GRCm39)	E4793V	probably damaging	Het
Fbxw22	T	G	9: 109,232,156 (GRCm39)	K80N	probably damaging	Het
Fbxw24	T	C	9: 109,436,066 (GRCm39)	E322G	probably benign	Het
Fcgbpl1	A	G	7: 27,855,994 (GRCm39)	D1927G	probably damaging	Het
Fndc7	T	C	3: 108,763,724 (GRCm39)	I639V	possibly damaging	Het
Folh1	T	C	7: 86,383,328 (GRCm39)	Y473C	probably damaging	Het
Foxb2	T	A	19: 16,850,131 (GRCm39)	M292L	probably benign	Het
Gapvd1	A	G	2: 34,605,265 (GRCm39)	S41P	probably damaging	Het
Gp6	G	T	7: 4,371,899 (GRCm39)	A302D	probably damaging	Het
Hmgcr	A	T	13: 96,803,171 (GRCm39)	M8K	probably benign	Het
Itpripl2	C	T	7: 118,089,092 (GRCm39)	R489Q	probably damaging	Het
Kmo	T	C	1: 175,474,760 (GRCm39)	V175A	possibly damaging	Het
Lce1i	C	T	3: 92,684,988 (GRCm39)	G63S	unknown	Het
Lrp1b	T	C	2: 41,298,354 (GRCm39)	Q155R	probably damaging	Het
Mdm1	T	C	10: 117,995,588 (GRCm39)	S541P	possibly damaging	Het
Neto2	C	T	8: 86,367,173 (GRCm39)	D524N	probably damaging	Het
Oga	T	C	19: 45,765,445 (GRCm39)	T121A	probably benign	Het
Or1j10	A	G	2: 36,267,129 (GRCm39)	T114A	probably benign	Het
Or2ak6	T	A	11: 58,592,877 (GRCm39)	F117I	probably damaging	Het
Or5bw2	T	C	7: 6,573,824 (GRCm39)	I278T	possibly damaging	Het
Or5h17	A	T	16: 58,820,569 (GRCm39)	I174L	probably benign	Het
Ppp4r1	C	T	17: 66,110,856 (GRCm39)	Q21*	probably null	Het
Ryr2	T	A	13: 11,570,334 (GRCm39)	T4930S	possibly damaging	Het
Scart2	T	A	7: 139,829,036 (GRCm39)	C232S	probably damaging	Het
Siae	G	A	9: 37,528,219 (GRCm39)	G64D	probably benign	Het
Slc14a2	T	C	18: 78,252,282 (GRCm39)	M10V	possibly damaging	Het
Ssrp1	C	G	2: 84,874,669 (GRCm39)	D496E	probably damaging	Het
Steap2	A	G	5: 5,725,912 (GRCm39)	S371P	probably damaging	Het
Taf6l	G	A	19: 8,761,294 (GRCm39)	R24W	probably damaging	Het
Tbkbp1	T	C	11: 97,039,555 (GRCm39)	Q118R	probably damaging	Het
Tln2	C	T	9: 67,241,602 (GRCm39)	G1001E	possibly damaging	Het
Tm2d3	A	G	7: 65,348,872 (GRCm39)	N184D	probably damaging	Het
Tmprss2	A	T	16: 97,392,071 (GRCm39)	W131R	probably null	Het
Ube2d2a	A	G	18: 35,903,531 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,954,480 (GRCm39)	Y1043H	probably benign	Het
Usp34	T	A	11: 23,407,975 (GRCm39)	I2600K	probably damaging	Het
Vmn1r198	A	G	13: 22,539,168 (GRCm39)	Y218C	probably damaging	Het
Vmn2r8	T	C	5: 108,950,106 (GRCm39)	Y247C	probably damaging	Het
Wdr59	A	T	8: 112,192,463 (GRCm39)	N699K	probably damaging	Het
Zcchc2	T	C	1: 105,951,402 (GRCm39)	V579A	probably benign	Het
Zfhx3	A	T	8: 109,682,623 (GRCm39)	Q3354L	unknown	Het

Other mutations in Gmds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Gmds	APN	13	32,418,373 (GRCm39)	missense	probably damaging	1.00
IGL01021:Gmds	APN	13	32,311,013 (GRCm39)	missense	possibly damaging	0.85
IGL01463:Gmds	APN	13	32,418,341 (GRCm39)	missense	probably damaging	1.00
IGL01780:Gmds	APN	13	32,409,145 (GRCm39)	nonsense	probably null
IGL02570:Gmds	APN	13	32,418,390 (GRCm39)	splice site	probably benign
IGL02944:Gmds	APN	13	32,522,435 (GRCm39)	missense	probably benign
IGL03159:Gmds	APN	13	32,003,934 (GRCm39)	missense	probably damaging	1.00
Insipidus	UTSW	13	32,101,679 (GRCm39)	missense	probably benign	0.21
mini	UTSW	13	32,004,172 (GRCm39)	missense	possibly damaging	0.77
R0114:Gmds	UTSW	13	32,411,264 (GRCm39)	missense	probably benign	0.09
R0575:Gmds	UTSW	13	32,124,566 (GRCm39)	missense	probably damaging	1.00
R1932:Gmds	UTSW	13	32,311,980 (GRCm39)	missense	possibly damaging	0.87
R2516:Gmds	UTSW	13	32,284,456 (GRCm39)	missense	probably damaging	1.00
R3877:Gmds	UTSW	13	32,411,248 (GRCm39)	missense	probably damaging	1.00
R4257:Gmds	UTSW	13	32,004,172 (GRCm39)	missense	possibly damaging	0.77
R4380:Gmds	UTSW	13	32,101,679 (GRCm39)	missense	probably benign	0.21
R4441:Gmds	UTSW	13	32,124,461 (GRCm39)	splice site	probably null
R5060:Gmds	UTSW	13	32,124,482 (GRCm39)	missense	probably benign	0.01
R5454:Gmds	UTSW	13	32,312,024 (GRCm39)	missense	probably damaging	1.00
R5493:Gmds	UTSW	13	32,124,488 (GRCm39)	missense	probably benign
R6795:Gmds	UTSW	13	32,418,335 (GRCm39)	critical splice donor site	probably null
R8463:Gmds	UTSW	13	32,003,906 (GRCm39)	missense	probably benign	0.01
R9138:Gmds	UTSW	13	32,311,035 (GRCm39)	nonsense	probably null
R9434:Gmds	UTSW	13	32,284,369 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGAAGGTTGGCAGCAGGC -3'
(R):5'- TATTCTTTAAAAGGAAGCAGGGTGG -3'

Sequencing Primer
(F):5'- TGGCAGCAGGCATTCCAG -3'
(R):5'- GGGGGTTAAACTTCCTTTCAAAC -3'

Posted On

2016-10-24