Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02860:Gapdhs'

362136

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

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL02860

Quality Score

Status

Chromosome

Chromosomal Location

30429204-30443106 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to A at 30429308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000170371] [ENSMUST00000182067] [ENSMUST00000207263] [ENSMUST00000207779] [ENSMUST00000207296] [ENSMUST00000208169] [ENSMUST00000209065] [ENSMUST00000182634]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005692

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553

Domain	Start	End	E-Value	Type
Pfam:H-K_ATPase_N	2	42	5.4e-23	PFAM
Cation_ATPase_N	52	126	2.26e-18	SMART
Pfam:E1-E2_ATPase	144	375	1.1e-57	PFAM
Pfam:Hydrolase	380	739	5.3e-16	PFAM
Pfam:HAD	383	736	1.9e-18	PFAM
Pfam:Cation_ATPase	436	531	1.6e-24	PFAM
Pfam:Cation_ATPase_C	809	1019	4.8e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000006478

SMART Domains

Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315

Domain	Start	End	E-Value	Type
Pfam:DUF2053	2	158	3.1e-69	PFAM
transmembrane domain	168	190	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000074758

SMART Domains

Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099

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: ENSMUST00000165410

Predicted Effect

probably benign
Transcript: ENSMUST00000170371

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553

Domain	Start	End	E-Value	Type
Pfam:H-K_ATPase_N	2	42	4.9e-28	PFAM
Cation_ATPase_N	52	126	2.26e-18	SMART
Pfam:E1-E2_ATPase	145	376	1e-62	PFAM
Pfam:Hydrolase	380	730	9.3e-25	PFAM
Pfam:HAD	383	727	2.1e-15	PFAM
Pfam:Hydrolase_like2	436	531	4e-25	PFAM
Pfam:Cation_ATPase_C	800	1010	1.5e-42	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: ENSMUST00000207263

Predicted Effect

probably benign
Transcript: ENSMUST00000207779

Predicted Effect

probably benign
Transcript: ENSMUST00000207296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207955

Predicted Effect

probably benign
Transcript: ENSMUST00000208169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183194

Predicted Effect

probably benign
Transcript: ENSMUST00000209065

Predicted Effect

probably benign
Transcript: ENSMUST00000182634

SMART Domains

Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	T	9: 90,073,915 (GRCm39)	M832L	probably benign	Het
Cars1	A	T	7: 143,140,158 (GRCm39)	D99E	probably damaging	Het
Ccdc112	A	G	18: 46,420,509 (GRCm39)	F414L	probably benign	Het
Chst15	C	T	7: 131,870,831 (GRCm39)	V235I	probably benign	Het
Dysf	G	T	6: 84,167,880 (GRCm39)		probably null	Het
Elavl2	T	C	4: 91,149,190 (GRCm39)	D174G	probably damaging	Het
Gnb1l	G	A	16: 18,371,285 (GRCm39)	G259R	probably damaging	Het
Ighv9-2	T	G	12: 114,072,857 (GRCm39)	I39L	possibly damaging	Het
Kntc1	T	A	5: 123,907,936 (GRCm39)	N474K	possibly damaging	Het
Lrrc8c	T	C	5: 105,727,481 (GRCm39)		probably benign	Het
Lyn	C	T	4: 3,745,594 (GRCm39)	A131V	possibly damaging	Het
Mindy2	T	C	9: 70,563,826 (GRCm39)	E168G	probably damaging	Het
Morc2a	T	C	11: 3,611,821 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nell1	A	T	7: 50,498,233 (GRCm39)	I597F	probably damaging	Het
Nudt12	T	A	17: 59,317,430 (GRCm39)	R72S	probably benign	Het
Pan2	C	T	10: 128,146,604 (GRCm39)	R414*	probably null	Het
Rb1	T	C	14: 73,443,452 (GRCm39)	R768G	probably damaging	Het
Rps6ka2	A	G	17: 7,550,255 (GRCm39)	E440G	possibly damaging	Het
Serpinb3a	C	T	1: 106,977,183 (GRCm39)		probably benign	Het
Stx8	C	A	11: 67,875,391 (GRCm39)	T72K	probably damaging	Het
Tecrl	A	G	5: 83,502,844 (GRCm39)	F2L	probably benign	Het
Tmem263	C	T	10: 84,950,416 (GRCm39)	T69I	probably damaging	Het
Ttc39b	T	C	4: 83,181,983 (GRCm39)	N49D	probably benign	Het
Ttn	A	G	2: 76,547,359 (GRCm39)	L32229P	probably damaging	Het
Zfp358	T	C	8: 3,546,074 (GRCm39)	F219L	probably damaging	Het

Other mutations in Gapdhs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Gapdhs	APN	7	30,429,866 (GRCm39)	unclassified	probably benign
IGL01667:Gapdhs	APN	7	30,436,062 (GRCm39)	missense	possibly damaging	0.90
IGL02878:Gapdhs	APN	7	30,429,304 (GRCm39)	unclassified	probably benign
IGL03372:Gapdhs	APN	7	30,432,674 (GRCm39)	unclassified	probably benign
R1662:Gapdhs	UTSW	7	30,436,427 (GRCm39)	missense	probably damaging	1.00
R2255:Gapdhs	UTSW	7	30,429,333 (GRCm39)	splice site	probably null
R4941:Gapdhs	UTSW	7	30,432,691 (GRCm39)	missense	probably benign	0.02
R5059:Gapdhs	UTSW	7	30,431,410 (GRCm39)	missense	probably benign	0.17
R5877:Gapdhs	UTSW	7	30,431,772 (GRCm39)	missense	probably damaging	1.00
R7571:Gapdhs	UTSW	7	30,437,383 (GRCm39)	missense	unknown
R7622:Gapdhs	UTSW	7	30,438,756 (GRCm39)	missense	unknown
R7714:Gapdhs	UTSW	7	30,431,349 (GRCm39)	missense	probably damaging	1.00
R7902:Gapdhs	UTSW	7	30,436,146 (GRCm39)	missense	probably damaging	1.00
R8410:Gapdhs	UTSW	7	30,437,335 (GRCm39)	missense	unknown
R8954:Gapdhs	UTSW	7	30,432,591 (GRCm39)	missense	probably damaging	1.00
R9477:Gapdhs	UTSW	7	30,431,682 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18