Incidental Mutation 'IGL03372:Gapdhs'
ID420372
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: 0.161) question?
Stock #IGL03372
Quality Score
Status
Chromosome7
Chromosomal Location30729775-30743681 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 30733249 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000182067] [ENSMUST00000182634] [ENSMUST00000207263] [ENSMUST00000207296] [ENSMUST00000207779] [ENSMUST00000208169] [ENSMUST00000209065]
Predicted Effect probably benign
Transcript: ENSMUST00000006478
SMART Domains Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000074758
SMART Domains Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099

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
SMART Domains Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099

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
Predicted Effect probably benign
Transcript: ENSMUST00000207263
Predicted Effect probably benign
Transcript: ENSMUST00000207296
Predicted Effect probably benign
Transcript: ENSMUST00000207779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207955
Predicted Effect probably benign
Transcript: ENSMUST00000208169
Predicted Effect probably benign
Transcript: ENSMUST00000209065
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 130,017,569 A1161V probably benign Het
Alpi A G 1: 87,100,628 probably benign Het
Asxl1 A T 2: 153,400,413 N961I probably damaging Het
Bcl2l10 A G 9: 75,348,047 I49V probably benign Het
Bod1l T C 5: 41,805,235 probably benign Het
Ccl20 A G 1: 83,117,876 M54V probably benign Het
Cep72 A C 13: 74,043,518 L200V possibly damaging Het
Clic4 T C 4: 135,218,614 D164G probably damaging Het
Col5a3 G A 9: 20,775,328 P1334S unknown Het
Dab2 T C 15: 6,429,549 L293P probably damaging Het
Ddx50 A T 10: 62,643,330 S140T probably benign Het
Dnah6 A T 6: 73,075,850 M2897K probably benign Het
Dnmt3a A G 12: 3,902,666 E721G probably damaging Het
Esyt3 A T 9: 99,336,056 probably benign Het
Fat4 G T 3: 38,889,134 K725N possibly damaging Het
Fezf1 T C 6: 23,246,910 I308V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm10109 A T 7: 44,221,702 probably benign Het
Gpd2 G A 2: 57,355,507 V405I probably damaging Het
Gtf2e1 T C 16: 37,535,715 probably benign Het
Iqca A G 1: 90,144,969 I63T possibly damaging Het
Kcmf1 A C 6: 72,849,563 L161R probably damaging Het
Kif19a G T 11: 114,779,218 V80L probably damaging Het
Kif21a A T 15: 90,956,376 M1179K probably benign Het
Krtap19-2 A G 16: 88,873,886 probably benign Het
Ksr2 T A 5: 117,702,718 I575N possibly damaging Het
L3mbtl1 A T 2: 162,971,157 probably benign Het
Larp1b A T 3: 41,024,527 H6L possibly damaging Het
Map4k2 T A 19: 6,342,249 probably benign Het
Mdh1b T C 1: 63,719,995 H146R possibly damaging Het
Morc2a T C 11: 3,681,813 probably benign Het
Mvd A G 8: 122,443,374 probably benign Het
Myo7b C T 18: 31,998,601 S514N probably damaging Het
Nav1 A T 1: 135,450,903 I1610K probably damaging Het
Nbas T C 12: 13,534,472 L2095P probably damaging Het
Nrros T C 16: 32,144,770 N115S probably damaging Het
Olfr472 T C 7: 107,903,370 Y218H probably damaging Het
Otud6b A C 4: 14,812,519 I276R possibly damaging Het
P2rx6 G A 16: 17,567,492 E150K probably damaging Het
Pan2 T A 10: 128,315,127 L771Q probably benign Het
Pbrm1 T A 14: 31,085,019 N1087K probably benign Het
Pcdhb5 G T 18: 37,320,660 R31L probably benign Het
Proser3 A C 7: 30,543,568 S195A probably damaging Het
Rad50 T C 11: 53,695,294 K292E probably benign Het
Rbm27 G A 18: 42,305,716 R394H probably damaging Het
Samd9l A G 6: 3,375,314 I649T probably damaging Het
Skint3 G A 4: 112,255,906 probably benign Het
Slc4a4 T A 5: 89,156,426 L576Q probably damaging Het
Snx2 A G 18: 53,216,391 D408G probably damaging Het
Taar2 T C 10: 23,941,171 V203A probably benign Het
Tdrd6 C T 17: 43,625,568 V1530M probably damaging Het
Tsc2 A C 17: 24,619,470 L515R probably damaging Het
Unc13a A T 8: 71,655,709 M500K probably damaging Het
Vmn1r75 A G 7: 11,880,569 D76G probably benign Het
Whrn T C 4: 63,418,618 D127G probably damaging Het
Other mutations in Gapdhs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Gapdhs APN 7 30730441 unclassified probably benign
IGL01667:Gapdhs APN 7 30736637 missense possibly damaging 0.90
IGL02860:Gapdhs APN 7 30729883 unclassified probably null
IGL02878:Gapdhs APN 7 30729879 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 On2016-08-02