Incidental Mutation 'IGL00272:Gapdh'
ID 10914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gapdh
Ensembl Gene ENSMUSG00000057666
Gene Name glyceraldehyde-3-phosphate dehydrogenase
Synonyms Gapd, Gapd
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00272
Quality Score
Status
Chromosome 6
Chromosomal Location 125138812-125143450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 125139470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 267 (V267M)
Ref Sequence ENSEMBL: ENSMUSP00000113942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073605] [ENSMUST00000117675] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000119527] [ENSMUST00000182277] [ENSMUST00000144364] [ENSMUST00000182052] [ENSMUST00000183272]
AlphaFold P16858
Predicted Effect probably benign
Transcript: ENSMUST00000073605
AA Change: V241M

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
AA Change: V241M

DomainStartEndE-ValueType
Gp_dh_N 2 143 4.2e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117675
SMART Domains Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
low complexity region 362 375 N/A INTRINSIC
low complexity region 381 392 N/A INTRINSIC
PDB:1GK4|F 393 459 6e-7 PDB
low complexity region 474 497 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117757
AA Change: V267M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
AA Change: V267M

DomainStartEndE-ValueType
Gp_dh_N 2 150 7.33e-109 SMART
Pfam:Gp_dh_C 155 312 5.2e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118875
AA Change: V241M

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
AA Change: V241M

DomainStartEndE-ValueType
Gp_dh_N 2 150 7.33e-109 SMART
Pfam:Gp_dh_C 155 312 7.4e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119527
SMART Domains Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
low complexity region 378 389 N/A INTRINSIC
PDB:1GK4|F 390 456 6e-7 PDB
low complexity region 471 494 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150474
Predicted Effect probably benign
Transcript: ENSMUST00000182277
SMART Domains Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 57 2.75e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148835
SMART Domains Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
Filament 34 348 4.99e-2 SMART
low complexity region 356 379 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144364
SMART Domains Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182052
SMART Domains Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 1 55 2.96e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000183272
AA Change: V198M

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
AA Change: V198M

DomainStartEndE-ValueType
Gp_dh_N 2 107 7.93e-64 SMART
Pfam:Gp_dh_C 112 269 3e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182670
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein was originally identified as a key glycolytic enzyme that converts D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Subsequent studies have assigned a variety of additional functions to the protein including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Alternative splicing results in multiple transcript variants. Many pseudogenes similar to this locus are found throughout the mouse genome. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mutant heterozygotes show reduced enzyme levels. The currently known mutant allels are homozygous lethal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,700,279 (GRCm39) V41A probably damaging Het
Ankrd12 C T 17: 66,293,169 (GRCm39) V755I probably benign Het
Arrdc3 T C 13: 81,038,691 (GRCm39) S218P probably damaging Het
Bzw1 T C 1: 58,442,101 (GRCm39) V292A possibly damaging Het
Cers2 T C 3: 95,229,211 (GRCm39) Y228H probably damaging Het
Dnaaf6 A G X: 139,006,711 (GRCm39) I197V probably benign Het
Egf C T 3: 129,505,098 (GRCm39) M625I probably benign Het
Fbxw8 A T 5: 118,206,162 (GRCm39) H595Q probably benign Het
Fshr T A 17: 89,292,699 (GRCm39) I660F probably benign Het
Ginm1 T C 10: 7,668,460 (GRCm39) probably benign Het
Gja1 A G 10: 56,264,418 (GRCm39) D259G probably benign Het
Gm21814 T A 6: 149,483,502 (GRCm39) noncoding transcript Het
Gm26870 T C 9: 3,002,340 (GRCm39) probably benign Het
Habp2 G A 19: 56,306,264 (GRCm39) C482Y probably damaging Het
Knl1 A C 2: 118,894,564 (GRCm39) N79T probably damaging Het
Lama3 G A 18: 12,624,605 (GRCm39) C1450Y probably damaging Het
Lats2 T C 14: 57,929,026 (GRCm39) T950A probably benign Het
Map2k2 T A 10: 80,956,907 (GRCm39) M95K probably damaging Het
Med12l T A 3: 58,949,757 (GRCm39) I160N probably damaging Het
Or9m1b A G 2: 87,836,988 (GRCm39) S45P probably damaging Het
Or9m2 A T 2: 87,820,782 (GRCm39) D109V probably damaging Het
Pes1 T C 11: 3,926,803 (GRCm39) S362P probably damaging Het
Ppp6r2 G T 15: 89,170,016 (GRCm39) A844S probably benign Het
Rnf130 A G 11: 49,984,623 (GRCm39) I308V probably damaging Het
Scn11a T C 9: 119,645,669 (GRCm39) N95S probably damaging Het
Shoc1 A G 4: 59,086,961 (GRCm39) F284L probably benign Het
Skint2 A G 4: 112,481,409 (GRCm39) T91A probably damaging Het
Smg1 A G 7: 117,797,494 (GRCm39) probably benign Het
Snapc1 A G 12: 74,015,148 (GRCm39) probably null Het
Stard10 A T 7: 100,971,173 (GRCm39) Y47F probably damaging Het
Tenm3 C T 8: 48,870,095 (GRCm39) V233I probably damaging Het
Tex14 G A 11: 87,426,469 (GRCm39) S1165N probably damaging Het
Unc5a A G 13: 55,143,633 (GRCm39) I106V probably benign Het
Vps54 T A 11: 21,227,909 (GRCm39) Y275N possibly damaging Het
Wdr87-ps G T 7: 29,237,047 (GRCm39) noncoding transcript Het
Other mutations in Gapdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2203:Gapdh UTSW 6 125,139,569 (GRCm39) missense probably benign 0.18
R3195:Gapdh UTSW 6 125,139,583 (GRCm39) missense possibly damaging 0.94
R4181:Gapdh UTSW 6 125,142,197 (GRCm39) intron probably benign
R4480:Gapdh UTSW 6 125,140,145 (GRCm39) missense possibly damaging 0.55
R5934:Gapdh UTSW 6 125,139,664 (GRCm39) missense probably damaging 0.98
R6019:Gapdh UTSW 6 125,139,996 (GRCm39) nonsense probably null
R6034:Gapdh UTSW 6 125,142,261 (GRCm39) missense probably benign 0.25
R6212:Gapdh UTSW 6 125,139,661 (GRCm39) missense probably damaging 1.00
R6776:Gapdh UTSW 6 125,139,236 (GRCm39) missense probably damaging 1.00
R6928:Gapdh UTSW 6 125,139,634 (GRCm39) missense probably damaging 1.00
R7188:Gapdh UTSW 6 125,142,403 (GRCm39) intron probably benign
R7330:Gapdh UTSW 6 125,139,900 (GRCm39) missense probably benign 0.03
R7777:Gapdh UTSW 6 125,139,911 (GRCm39) nonsense probably null
R8027:Gapdh UTSW 6 125,139,331 (GRCm39) missense probably benign 0.05
R8343:Gapdh UTSW 6 125,140,226 (GRCm39) missense probably benign 0.05
R8737:Gapdh UTSW 6 125,139,017 (GRCm39) missense probably benign 0.00
R9304:Gapdh UTSW 6 125,139,819 (GRCm39) missense probably benign 0.05
Posted On 2012-12-06