Incidental Mutation 'IGL02424:Gdap1'
ID 292830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdap1
Ensembl Gene ENSMUSG00000025777
Gene Name ganglioside-induced differentiation-associated-protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02424
Quality Score
Status
Chromosome 1
Chromosomal Location 17215586-17234495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17231402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 249 (V249A)
Ref Sequence ENSEMBL: ENSMUSP00000026879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026879] [ENSMUST00000189736]
AlphaFold O88741
Predicted Effect probably damaging
Transcript: ENSMUST00000026879
AA Change: V249A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026879
Gene: ENSMUSG00000025777
AA Change: V249A

DomainStartEndE-ValueType
Pfam:GST_N 24 99 2.8e-15 PFAM
Pfam:GST_N_3 28 105 8.1e-18 PFAM
Pfam:GST_N_2 33 100 2.7e-12 PFAM
Pfam:GST_C 148 287 3.5e-10 PFAM
Pfam:GST_C_2 160 282 5.8e-13 PFAM
Pfam:GST_C_3 164 285 8.5e-10 PFAM
transmembrane domain 292 309 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189465
Predicted Effect probably benign
Transcript: ENSMUST00000189736
SMART Domains Protein: ENSMUSP00000140406
Gene: ENSMUSG00000025777

DomainStartEndE-ValueType
SCOP:d1eema2 19 55 4e-5 SMART
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 member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele develop motor deficits and a peripheral neuropathy with loss of motor neurons and abnormal neuromuscular junctions. Cultured motor neurons show large and abnormal mitochondria, reduced axon length, changes in the ER cisternae, and altered calcium ion homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 137,880,466 (GRCm39) probably benign Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abl1 G A 2: 31,691,144 (GRCm39) V888I probably benign Het
Adcy9 G T 16: 4,106,461 (GRCm39) N884K probably damaging Het
Alyref T C 11: 120,486,133 (GRCm39) N176D probably benign Het
Amtn T C 5: 88,529,456 (GRCm39) probably benign Het
Baz1b T C 5: 135,246,833 (GRCm39) Y761H probably damaging Het
Cckar T A 5: 53,863,770 (GRCm39) T64S possibly damaging Het
Csmd1 A G 8: 16,142,340 (GRCm39) F1521S probably benign Het
Cyp11b1 T C 15: 74,711,085 (GRCm39) T198A probably benign Het
Def8 G T 8: 124,186,387 (GRCm39) L399F possibly damaging Het
Epha7 A T 4: 28,948,790 (GRCm39) probably benign Het
Ets1 T A 9: 32,665,589 (GRCm39) Y181* probably null Het
Fas A T 19: 34,304,434 (GRCm39) M232L probably damaging Het
Fkbp10 T A 11: 100,306,782 (GRCm39) V37E probably damaging Het
Galnt3 A G 2: 65,926,132 (GRCm39) probably null Het
Gm5356 T A 8: 89,913,594 (GRCm39) noncoding transcript Het
Gm7732 A G 17: 21,349,709 (GRCm39) noncoding transcript Het
Gpr3 G T 4: 132,938,405 (GRCm39) A89E probably damaging Het
Kat2a A G 11: 100,601,973 (GRCm39) probably null Het
Kit T G 5: 75,799,766 (GRCm39) D499E probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Med12l T C 3: 59,000,143 (GRCm39) L666P probably benign Het
Mmp2 T G 8: 93,562,635 (GRCm39) C291G probably damaging Het
Neb A G 2: 52,154,203 (GRCm39) Y2303H probably damaging Het
Or14a259 C A 7: 86,012,688 (GRCm39) V286L probably benign Het
Or1d2 T A 11: 74,256,299 (GRCm39) M268K probably benign Het
Or1o2 T C 17: 37,543,263 (GRCm39) probably benign Het
Pde1b T A 15: 103,436,646 (GRCm39) probably benign Het
Prl7a2 A C 13: 27,851,953 (GRCm39) C9G probably null Het
Rabl6 A G 2: 25,477,469 (GRCm39) V327A probably benign Het
Robo2 T A 16: 73,770,189 (GRCm39) I516F possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc35a3 G A 3: 116,488,267 (GRCm39) T140I possibly damaging Het
Slc38a7 A G 8: 96,568,200 (GRCm39) V395A probably damaging Het
Stag3 T A 5: 138,280,247 (GRCm39) C37* probably null Het
Stag3 T C 5: 138,289,628 (GRCm39) L266P probably damaging Het
Strn A G 17: 78,991,780 (GRCm39) S180P probably damaging Het
Sulf1 A G 1: 12,867,064 (GRCm39) T83A probably benign Het
Vmn1r69 T C 7: 10,314,585 (GRCm39) I49V probably benign Het
Vrk2 G A 11: 26,426,564 (GRCm39) P387L probably benign Het
Xdh A T 17: 74,233,565 (GRCm39) M183K probably benign Het
Other mutations in Gdap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02570:Gdap1 APN 1 17,215,709 (GRCm39) missense probably benign 0.27
IGL03269:Gdap1 APN 1 17,231,729 (GRCm39) missense probably benign 0.00
R0992:Gdap1 UTSW 1 17,217,329 (GRCm39) missense probably damaging 1.00
R1480:Gdap1 UTSW 1 17,215,781 (GRCm39) missense probably damaging 1.00
R1518:Gdap1 UTSW 1 17,217,169 (GRCm39) missense possibly damaging 0.54
R2061:Gdap1 UTSW 1 17,215,689 (GRCm39) unclassified probably benign
R3983:Gdap1 UTSW 1 17,230,131 (GRCm39) intron probably benign
R4892:Gdap1 UTSW 1 17,230,218 (GRCm39) missense possibly damaging 0.61
R5765:Gdap1 UTSW 1 17,231,650 (GRCm39) missense probably benign
R6471:Gdap1 UTSW 1 17,230,249 (GRCm39) missense possibly damaging 0.50
R7574:Gdap1 UTSW 1 17,231,665 (GRCm39) missense possibly damaging 0.59
R7689:Gdap1 UTSW 1 17,231,623 (GRCm39) missense probably damaging 1.00
R7895:Gdap1 UTSW 1 17,231,368 (GRCm39) missense probably damaging 1.00
R7937:Gdap1 UTSW 1 17,230,177 (GRCm39) missense probably benign 0.15
R9335:Gdap1 UTSW 1 17,231,389 (GRCm39) missense probably benign 0.05
R9378:Gdap1 UTSW 1 17,227,353 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16