Mutagenetix > Incidental Mutation

Incidental Mutation 'R9434:Gmds'

713186

Institutional Source

Beutler Lab

Gene Symbol

Gmds

Ensembl Gene

ENSMUSG00000038372

Gene Name

GDP-mannose 4, 6-dehydratase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9434 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32003562-32522723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32284369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 248 (D248Y)

Ref Sequence

ENSEMBL: ENSMUSP00000036696 (fasta)

Gene Model

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

AlphaFold

Q8K0C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000041859
AA Change: D248Y

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

SMART Domains

Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: D248Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

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
Adam24	A	G	8: 41,133,284 (GRCm39)	I251V	probably benign	Het
Adgrv1	T	C	13: 81,666,292 (GRCm39)		probably benign	Het
Adipoq	A	G	16: 22,965,697 (GRCm39)		probably benign	Het
Adnp	C	T	2: 168,026,377 (GRCm39)	R306Q	probably damaging	Het
Akap11	A	T	14: 78,747,829 (GRCm39)	N1519K		Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
Cdc14a	T	C	3: 116,217,092 (GRCm39)	M15V	probably benign	Het
Cgn	T	C	3: 94,672,837 (GRCm39)	D947G	probably damaging	Het
Crhr2	A	T	6: 55,069,512 (GRCm39)	F381I	probably damaging	Het
Dmxl1	G	T	18: 50,010,788 (GRCm39)	A982S	probably damaging	Het
Efcab3	T	C	11: 104,899,863 (GRCm39)	V4375A	probably benign	Het
Epha5	T	C	5: 84,479,227 (GRCm39)	E259G	possibly damaging	Het
Erbb4	T	C	1: 68,081,773 (GRCm39)	D1087G	possibly damaging	Het
Fcgr2b	A	T	1: 170,793,385 (GRCm39)	S215T	probably benign	Het
Fsip2	A	T	2: 82,816,702 (GRCm39)	Y4145F	possibly damaging	Het
Fyb2	C	T	4: 104,847,534 (GRCm39)	T518M	probably damaging	Het
Galk1	C	T	11: 115,903,494 (GRCm39)	W4*	probably null	Het
Herc3	T	A	6: 58,853,846 (GRCm39)	F631I	probably benign	Het
Hhla1	T	C	15: 65,839,226 (GRCm39)	K55E	possibly damaging	Het
Il17rb	T	C	14: 29,728,054 (GRCm39)	E51G	probably damaging	Het
Ildr1	T	A	16: 36,529,862 (GRCm39)	L83Q	probably damaging	Het
Ints9	A	G	14: 65,245,506 (GRCm39)	I255V	probably benign	Het
Itga9	G	T	9: 118,636,315 (GRCm39)	D668Y	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl35	A	G	7: 99,119,547 (GRCm39)	Y344C	probably damaging	Het
Klra4	A	G	6: 130,040,083 (GRCm39)	V63A	possibly damaging	Het
Lgr4	A	G	2: 109,836,907 (GRCm39)	T414A	probably benign	Het
Lmbrd2	C	T	15: 9,157,314 (GRCm39)	T184M	probably benign	Het
Lrp1	T	C	10: 127,381,689 (GRCm39)	D3795G	possibly damaging	Het
N6amt1	T	A	16: 87,159,421 (GRCm39)	L109Q	possibly damaging	Het
Ncoa1	A	G	12: 4,365,755 (GRCm39)	C215R	probably benign	Het
Ngef	G	A	1: 87,408,315 (GRCm39)	S584F	possibly damaging	Het
Notch4	T	C	17: 34,801,673 (GRCm39)	C1174R	probably damaging	Het
Opa1	T	C	16: 29,404,874 (GRCm39)	I24T	probably benign	Het
Or10v1	A	C	19: 11,873,393 (GRCm39)	I3L	probably benign	Het
Or1e1b-ps1	A	T	11: 73,845,662 (GRCm39)	I49F	probably damaging	Het
Or1o4	T	C	17: 37,591,254 (GRCm39)	E19G	probably benign	Het
Or4a15	A	G	2: 89,193,692 (GRCm39)	V27A	probably benign	Het
Pcnx2	A	G	8: 126,542,512 (GRCm39)	V1223A	probably benign	Het
Phf14	A	G	6: 11,933,492 (GRCm39)	K118R	unknown	Het
Plcd1	A	T	9: 118,905,231 (GRCm39)	M186K	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Sumf1	A	T	6: 108,130,096 (GRCm39)	C233S	possibly damaging	Het
Tbc1d12	A	G	19: 38,902,461 (GRCm39)	K540R	probably benign	Het
Tmem150c	T	C	5: 100,240,643 (GRCm39)	N73S	probably damaging	Het
Tpra1	T	C	6: 88,888,774 (GRCm39)	S319P	probably benign	Het
Ttk	C	A	9: 83,750,143 (GRCm39)	Y699*	probably null	Het
Vmn1r196	T	A	13: 22,477,790 (GRCm39)	L143*	probably null	Het
Vmn2r84	A	G	10: 130,221,745 (GRCm39)	V825A	possibly damaging	Het
Zpld2	T	G	4: 133,929,553 (GRCm39)	T251P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGTTCAGTGCAGTCAGC -3'
(R):5'- CCAAATGACAGCTAATGATCGTTC -3'

Sequencing Primer
(F):5'- CAGTCAGCCATATTTGTGTCAGCAG -3'
(R):5'- GTAATGGGATGAAAGAAATGCCC -3'

Posted On

2022-05-16