Incidental Mutation 'IGL01667:Gapdhs'
ID103335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gapdhs
Ensembl Gene ENSMUSG00000061099
Gene Nameglyceraldehyde-3-phosphate dehydrogenase, spermatogenic
SynonymsGapd-s, Gapds
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL01667
Quality Score
Status
Chromosome7
Chromosomal Location30729775-30743681 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30736637 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1i7oa2 53 93 5e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182067
SMART Domains Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2014-01-21