Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01021:Gmds'

53942

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gmds

Ensembl Gene

ENSMUSG00000038372

Gene Name

GDP-mannose 4, 6-dehydratase

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

31819579-32338740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32127030 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 205 (I205V)

Ref Sequence

ENSEMBL: ENSMUSP00000036696 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041859
AA Change: I205V

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: I205V

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

Coding Region Coverage

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,676	V80A	unknown	Het
Adam28	A	G	14: 68,642,114	S162P	probably benign	Het
Adamts14	G	T	10: 61,225,373	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,635,161		probably null	Het
B3galt5	C	A	16: 96,315,723	H185Q	probably benign	Het
Bod1l	A	G	5: 41,838,173		probably benign	Het
Ddx46	T	A	13: 55,666,332	Y700*	probably null	Het
Dph7	T	G	2: 24,971,923		probably null	Het
Fcho1	A	T	8: 71,713,523	Y354*	probably null	Het
Fnbp4	A	G	2: 90,777,669	M912V	probably benign	Het
Fpgt	T	A	3: 155,091,492	E42V	possibly damaging	Het
Frmd3	A	G	4: 74,074,120	I75V	possibly damaging	Het
Gm10264	G	A	12: 88,329,272	G7R	unknown	Het
Gm3278	G	T	14: 4,895,222	V159L	possibly damaging	Het
Gprin1	T	A	13: 54,740,369	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,304,881	E102G	probably damaging	Het
Itga1	T	A	13: 114,997,000	Y458F	probably benign	Het
Kif20b	T	C	19: 34,938,260	V479A	possibly damaging	Het
Megf8	T	A	7: 25,338,374	W772R	probably benign	Het
Muc6	T	A	7: 141,637,162	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,003,560	S258P	probably damaging	Het
Padi3	T	C	4: 140,796,334		probably benign	Het
Pmfbp1	G	T	8: 109,537,993	R897L	possibly damaging	Het
Rims1	A	T	1: 22,486,620	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,918,036	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,847,406	A89T	probably benign	Het
Tbk1	T	C	10: 121,551,272	E706G	probably benign	Het
Thra	A	G	11: 98,762,928	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,934,187	Y33*	probably null	Het
Usp6nl	T	A	2: 6,424,387	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,618,904	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,453,759	T485A	probably benign	Het
Zfat	T	C	15: 68,170,166	I840V	possibly damaging	Het

Other mutations in Gmds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Gmds	APN	13	32234390	missense	probably damaging	1.00
IGL01463:Gmds	APN	13	32234358	missense	probably damaging	1.00
IGL01780:Gmds	APN	13	32225162	nonsense	probably null
IGL02570:Gmds	APN	13	32234407	splice site	probably benign
IGL02944:Gmds	APN	13	32338452	missense	probably benign
IGL03159:Gmds	APN	13	31819951	missense	probably damaging	1.00
Insipidus	UTSW	13	31917696	missense	probably benign	0.21
mini	UTSW	13	31820189	missense	possibly damaging	0.77
R0114:Gmds	UTSW	13	32227281	missense	probably benign	0.09
R0575:Gmds	UTSW	13	31940583	missense	probably damaging	1.00
R1932:Gmds	UTSW	13	32127997	missense	possibly damaging	0.87
R2516:Gmds	UTSW	13	32100473	missense	probably damaging	1.00
R3877:Gmds	UTSW	13	32227265	missense	probably damaging	1.00
R4257:Gmds	UTSW	13	31820189	missense	possibly damaging	0.77
R4380:Gmds	UTSW	13	31917696	missense	probably benign	0.21
R4441:Gmds	UTSW	13	31940478	splice site	probably null
R5060:Gmds	UTSW	13	31940499	missense	probably benign	0.01
R5454:Gmds	UTSW	13	32128041	missense	probably damaging	1.00
R5493:Gmds	UTSW	13	31940505	missense	probably benign
R5571:Gmds	UTSW	13	31917721	splice site	probably null
R6795:Gmds	UTSW	13	32234352	critical splice donor site	probably null
R8463:Gmds	UTSW	13	31819923	missense	probably benign	0.01

Posted On

2013-06-28