Incidental Mutation 'IGL03269:Gdap1'
ID415185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdap1
Ensembl Gene ENSMUSG00000025777
Gene Nameganglioside-induced differentiation-associated-protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03269
Quality Score
Status
Chromosome1
Chromosomal Location17145362-17164271 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17161505 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 358 (F358Y)
Ref Sequence ENSEMBL: ENSMUSP00000026879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026879] [ENSMUST00000189736]
Predicted Effect probably benign
Transcript: ENSMUST00000026879
AA Change: F358Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026879
Gene: ENSMUSG00000025777
AA Change: F358Y

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T A 2: 27,108,355 C930* probably null Het
Ankar A T 1: 72,665,201 V854E probably damaging Het
Ccdc151 A G 9: 21,998,043 probably null Het
Ceacam3 T A 7: 17,161,842 L579Q probably damaging Het
Clip2 G T 5: 134,516,894 H314Q probably damaging Het
Fbxo28 A G 1: 182,317,018 V327A possibly damaging Het
Ighv1-18 T C 12: 114,682,846 Y46C probably damaging Het
Il1rl2 T A 1: 40,365,312 F531Y probably damaging Het
Irf6 A G 1: 193,162,598 probably benign Het
Ncoa6 T C 2: 155,406,489 T1632A probably damaging Het
Olfr1469 T A 19: 13,411,428 N286K probably damaging Het
Olfr723 T A 14: 49,928,708 T279S probably damaging Het
Olfr902 A G 9: 38,448,901 T10A probably benign Het
Osgepl1 C A 1: 53,321,112 Y332* probably null Het
Pibf1 G A 14: 99,187,735 A553T probably damaging Het
Prpf38b A G 3: 108,905,241 F219L probably benign Het
Pwp1 C A 10: 85,882,904 Q312K probably damaging Het
Rnf17 T C 14: 56,427,946 V185A possibly damaging Het
Serpina3k T C 12: 104,340,521 I4T possibly damaging Het
Slc33a1 A G 3: 63,963,757 V145A probably damaging Het
Slco3a1 T C 7: 74,318,532 D480G possibly damaging Het
Tcrg-V4 T A 13: 19,185,452 I122K probably damaging Het
Tdpoz4 G A 3: 93,796,837 C147Y probably damaging Het
Tlr4 C A 4: 66,840,796 P609T probably damaging Het
Ttc30a2 T C 2: 75,978,135 D11G possibly damaging Het
Unc79 A G 12: 103,088,677 K927E probably damaging Het
Vmn1r71 G A 7: 10,748,644 T39I possibly damaging Het
Vmn2r9 A G 5: 108,847,954 L276P probably damaging Het
Zfp335 C A 2: 164,900,354 R570L probably damaging Het
Other mutations in Gdap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02424:Gdap1 APN 1 17161178 missense probably damaging 1.00
IGL02570:Gdap1 APN 1 17145485 missense probably benign 0.27
R0992:Gdap1 UTSW 1 17147105 missense probably damaging 1.00
R1480:Gdap1 UTSW 1 17145557 missense probably damaging 1.00
R1518:Gdap1 UTSW 1 17146945 missense possibly damaging 0.54
R2061:Gdap1 UTSW 1 17145465 unclassified probably benign
R3983:Gdap1 UTSW 1 17159907 intron probably benign
R4892:Gdap1 UTSW 1 17159994 missense possibly damaging 0.61
R5765:Gdap1 UTSW 1 17161426 missense probably benign
R6471:Gdap1 UTSW 1 17160025 missense possibly damaging 0.50
Posted On2016-08-02