Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01667:Gapdhs'

103335

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gapdhs

Ensembl Gene

ENSMUSG00000061099

Gene Name

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

Synonyms

Gapd-s, Gapds

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

30729775-30743681 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30736637 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 174 (E174V)

Ref Sequence

ENSEMBL: ENSMUSP00000074317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074758] [ENSMUST00000182067] [ENSMUST00000182634]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074758
AA Change: E174V

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099
AA Change: E174V

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
Gp_dh_N	106	254	6.13e-79	SMART
Pfam:Gp_dh_C	259	416	2.3e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180820

SMART Domains

Protein: ENSMUSP00000137757
Gene: ENSMUSG00000097320

Domain	Start	End	E-Value	Type
SCOP:d1i7oa2	53	93	5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182067

SMART Domains

Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099

Domain	Start	End	E-Value	Type
PDB:2VYV\|D	1	44	3e-15	PDB
Blast:Gp_dh_N	4	33	9e-7	BLAST
SCOP:d1cf2o2	9	45	3e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182488

Predicted Effect

probably benign
Transcript: ENSMUST00000182634
AA Change: E176V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099
AA Change: E176V

Domain	Start	End	E-Value	Type
low complexity region	21	48	N/A	INTRINSIC
Gp_dh_N	108	256	6.13e-79	SMART
Pfam:Gp_dh_C	261	418	4.4e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183194

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility and asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,570,019	T57A	probably damaging	Het
Akna	G	T	4: 63,379,159	T886N	probably benign	Het
Aqp9	A	G	9: 71,138,213	V38A	probably benign	Het
Awat2	C	T	X: 100,404,254	G124D	probably damaging	Het
Camsap1	A	G	2: 25,945,281		probably benign	Het
Catsperg2	T	C	7: 29,710,133	Y545C	probably damaging	Het
Cldn23	A	G	8: 35,825,920	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,952,860		probably benign	Het
Dlgap3	C	A	4: 127,233,897	T786K	probably benign	Het
Dnah2	A	C	11: 69,544,395	S50A	probably benign	Het
Dnah2	A	T	11: 69,520,941	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,547,292	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,756,754	P115L	probably damaging	Het
Fzd2	G	T	11: 102,605,782	V351L	possibly damaging	Het
Gjc2	A	C	11: 59,177,518	I46S	probably damaging	Het
Gm5581	T	C	6: 131,167,772		noncoding transcript	Het
Krt2	C	A	15: 101,816,330	V282L	possibly damaging	Het
Myh15	G	A	16: 49,195,579	V1873M	probably benign	Het
Myo1b	T	C	1: 51,760,377	T931A	probably damaging	Het
Myo6	A	T	9: 80,289,893	K965N	unknown	Het
Olfr1441	T	C	19: 12,422,756	V149A	probably benign	Het
Pcnx3	T	C	19: 5,686,630	R160G	probably benign	Het
Slc22a16	T	C	10: 40,585,018	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,167,675	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,556,259	M1T	probably null	Het
St6gal1	A	G	16: 23,321,424	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,914,300		probably benign	Het
Tfrc	A	G	16: 32,624,443		probably benign	Het
Trip11	A	C	12: 101,878,862	F1539C	probably damaging	Het
Ttn	A	T	2: 76,781,078	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,577,800	M206L	probably benign	Het
Zfp362	A	G	4: 128,787,109	L141P	probably damaging	Het
Zfp692	A	G	11: 58,311,553	H378R	probably damaging	Het
Zfp799	T	C	17: 32,821,820	Q52R	possibly damaging	Het

Other mutations in Gapdhs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Gapdhs	APN	7	30730441	unclassified	probably benign
IGL02860:Gapdhs	APN	7	30729883	unclassified	probably null
IGL02878:Gapdhs	APN	7	30729879	unclassified	probably benign
IGL03372:Gapdhs	APN	7	30733249	unclassified	probably benign
R1662:Gapdhs	UTSW	7	30737002	missense	probably damaging	1.00
R2255:Gapdhs	UTSW	7	30729908	unclassified	probably null
R4941:Gapdhs	UTSW	7	30733266	missense	probably benign	0.02
R5059:Gapdhs	UTSW	7	30731985	missense	probably benign	0.17
R5877:Gapdhs	UTSW	7	30732347	missense	probably damaging	1.00
R7571:Gapdhs	UTSW	7	30737958	missense	unknown
R7622:Gapdhs	UTSW	7	30739331	missense	unknown
R7714:Gapdhs	UTSW	7	30731924	missense	probably damaging	1.00
R7902:Gapdhs	UTSW	7	30736721	missense	probably damaging	1.00
R7985:Gapdhs	UTSW	7	30736721	missense	probably damaging	1.00

Posted On

2014-01-21