Mutagenetix > Incidental Mutation

Incidental Mutation 'R5454:Gmds'

432688

Institutional Source

Beutler Lab

Gene Symbol

Gmds

Ensembl Gene

ENSMUSG00000038372

Gene Name

GDP-mannose 4, 6-dehydratase

Synonyms

MMRRC Submission

043018-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5454 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32003562-32522723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32312024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 135 (L135P)

Ref Sequence

ENSEMBL: ENSMUSP00000036696 (fasta)

Gene Model

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

AlphaFold

Q8K0C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000041859
AA Change: L135P

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

SMART Domains

Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: L135P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178294

Meta Mutation Damage Score

0.9749

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (60/60)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,051,041 (GRCm39)		noncoding transcript	Het
Ankfy1	A	T	11: 72,637,757 (GRCm39)	H483L	probably benign	Het
Ankrd46	C	T	15: 36,479,447 (GRCm39)	G215R	probably damaging	Het
Apobec1	T	C	6: 122,558,327 (GRCm39)	I143V	probably benign	Het
Atp2b4	C	A	1: 133,657,610 (GRCm39)	V627F	probably damaging	Het
Ccdc80	T	A	16: 44,947,588 (GRCm39)	Y855*	probably null	Het
Cd209b	T	C	8: 3,975,396 (GRCm39)	E88G	probably damaging	Het
Ceacam14	T	G	7: 17,548,110 (GRCm39)	W67G	probably damaging	Het
Cope	T	C	8: 70,757,306 (GRCm39)	V50A	probably benign	Het
Dcaf13	C	A	15: 38,987,759 (GRCm39)	D168E	probably benign	Het
Dhcr7	T	G	7: 143,391,576 (GRCm39)	M55R	probably damaging	Het
Enpp7	A	T	11: 118,879,634 (GRCm39)	Y96F	probably benign	Het
Esco1	T	C	18: 10,584,327 (GRCm39)	D60G	probably benign	Het
Fgfr3	G	A	5: 33,880,642 (GRCm39)		probably benign	Het
Frzb	T	C	2: 80,248,259 (GRCm39)	D280G	probably damaging	Het
Gcat	A	G	15: 78,920,610 (GRCm39)	I317V	probably benign	Het
Gm13030	A	T	4: 138,600,820 (GRCm39)		probably benign	Het
Htra2	G	A	6: 83,030,995 (GRCm39)	P138L	probably damaging	Het
Il5	A	G	11: 53,614,626 (GRCm39)	N89S	probably damaging	Het
Ints3	G	A	3: 90,315,834 (GRCm39)	T310M	possibly damaging	Het
Itih2	T	C	2: 10,102,804 (GRCm39)	I777V	probably null	Het
Kctd9	T	C	14: 67,977,836 (GRCm39)	L382S	probably damaging	Het
Loricrin	A	G	3: 91,988,789 (GRCm39)	S166P	unknown	Het
Mga	T	A	2: 119,733,810 (GRCm39)	N219K	probably damaging	Het
Mtmr4	A	T	11: 87,501,868 (GRCm39)	R641*	probably null	Het
Muc6	C	T	7: 141,235,078 (GRCm39)	A611T	possibly damaging	Het
Obox3-ps8	A	T	17: 36,763,903 (GRCm39)		noncoding transcript	Het
Or5p54	A	T	7: 107,554,096 (GRCm39)	M83L	probably benign	Het
Otud4	C	T	8: 80,377,671 (GRCm39)	L111F	possibly damaging	Het
Pcdhga12	T	A	18: 37,899,314 (GRCm39)	S49T	possibly damaging	Het
Pcdhgc3	A	G	18: 37,941,549 (GRCm39)	D650G	probably damaging	Het
Pcmt1	A	G	10: 7,516,509 (GRCm39)	V167A	probably damaging	Het
Pcnt	A	T	10: 76,225,381 (GRCm39)		probably null	Het
Pcx	G	T	19: 4,652,504 (GRCm39)	V164F	probably damaging	Het
Plekhg4	T	C	8: 106,102,745 (GRCm39)		probably null	Het
Pmch	A	G	10: 87,927,707 (GRCm39)	E136G	probably damaging	Het
Prkar1a	A	G	11: 109,550,886 (GRCm39)	D80G	probably benign	Het
Ryr3	T	C	2: 112,560,647 (GRCm39)		probably null	Het
Slc10a7	T	C	8: 79,413,253 (GRCm39)	S171P	possibly damaging	Het
Sox6	A	T	7: 115,301,008 (GRCm39)	M153K	possibly damaging	Het
Srgap2	T	C	1: 131,217,475 (GRCm39)	I946V	probably benign	Het
Strbp	T	C	2: 37,535,495 (GRCm39)	E71G	probably benign	Het
Synpo2l	C	A	14: 20,712,360 (GRCm39)	A87S	probably damaging	Het
Tnrc18	T	C	5: 142,757,446 (GRCm39)	D1025G	unknown	Het
Tnxb	A	G	17: 34,928,599 (GRCm39)	H2671R	possibly damaging	Het
Tor1b	GGACG	GG	2: 30,846,957 (GRCm39)		probably benign	Het
Umodl1	A	T	17: 31,205,439 (GRCm39)	D649V	possibly damaging	Het
Usp13	G	T	3: 32,959,585 (GRCm39)	A559S	probably damaging	Het
Vps45	G	A	3: 95,926,969 (GRCm39)	P526L	probably benign	Het
Zfp687	A	G	3: 94,916,457 (GRCm39)	V855A	probably damaging	Het
Zfp771	T	A	7: 126,853,448 (GRCm39)	C205S	probably damaging	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
R5493:Gmds	UTSW	13	32,124,488 (GRCm39)	missense	probably benign
R5571:Gmds	UTSW	13	32,101,704 (GRCm39)	splice site	probably null
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'- AGACTTCAGCTATGACCCATGTG -3'
(R):5'- GCTGTTTTCTTACCAGCATAAAGC -3'

Sequencing Primer
(F):5'- TCAGCTATGACCCATGTGAAGAATG -3'
(R):5'- GCATAAAGCCACAGGTCGTG -3'

Posted On

2016-10-06