Incidental Mutation 'R7163:Gdi1'
ID 557770
Institutional Source Beutler Lab
Gene Symbol Gdi1
Ensembl Gene ENSMUSG00000015291
Gene Name GDP dissociation inhibitor 1
Synonyms GDIA, Rab GDIalpha
MMRRC Submission 045330-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R7163 (G1)
Quality Score 221.999
Status Not validated
Chromosome X
Chromosomal Location 73348618-73355473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73350461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 55 (R55H)
Ref Sequence ENSEMBL: ENSMUSP00000015435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015435] [ENSMUST00000019231] [ENSMUST00000114171] [ENSMUST00000124797] [ENSMUST00000130581] [ENSMUST00000147275] [ENSMUST00000147900] [ENSMUST00000153141]
AlphaFold P50396
Predicted Effect probably benign
Transcript: ENSMUST00000015435
AA Change: R55H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015435
Gene: ENSMUSG00000015291
AA Change: R55H

DomainStartEndE-ValueType
Pfam:GDI 1 436 5.6e-245 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019231
SMART Domains Protein: ENSMUSP00000019231
Gene: ENSMUSG00000019087

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 161 175 N/A INTRINSIC
transmembrane domain 419 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114171
SMART Domains Protein: ENSMUSP00000109808
Gene: ENSMUSG00000019087

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ATP-synt_S1 38 405 1.1e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124797
SMART Domains Protein: ENSMUSP00000118722
Gene: ENSMUSG00000019087

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:ATP-synt_S1 20 100 2.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130581
SMART Domains Protein: ENSMUSP00000122146
Gene: ENSMUSG00000015291

DomainStartEndE-ValueType
Pfam:GDI 1 63 1.4e-29 PFAM
Pfam:GDI 61 140 6.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136056
SMART Domains Protein: ENSMUSP00000117604
Gene: ENSMUSG00000019087

DomainStartEndE-ValueType
low complexity region 1 7 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147275
SMART Domains Protein: ENSMUSP00000116162
Gene: ENSMUSG00000019087

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ATP-synt_S1 38 157 3.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147900
SMART Domains Protein: ENSMUSP00000117006
Gene: ENSMUSG00000019087

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ATP-synt_S1 38 224 1.2e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153141
AA Change: R33H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119805
Gene: ENSMUSG00000015291
AA Change: R33H

DomainStartEndE-ValueType
Pfam:GDI 1 78 1.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154630
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Males hemizygous for a reporter allele show lower male aggression, short-term memory defects, altered synaptic vesicle pools and short-term synaptic plasticity, and impaired glutamate release. Homozygotes for a null allele show enhanced paired-pulse facilitation and sensitivity to induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A G 9: 53,319,372 (GRCm39) K4R possibly damaging Het
A830018L16Rik G A 1: 11,484,848 (GRCm39) G19D probably damaging Het
Abca3 A T 17: 24,583,916 (GRCm39) M102L probably benign Het
Adam19 A T 11: 46,022,544 (GRCm39) Y499F probably benign Het
Adck2 T C 6: 39,560,797 (GRCm39) V444A probably damaging Het
Adck5 T C 15: 76,478,016 (GRCm39) V214A probably damaging Het
Agrn G A 4: 156,262,966 (GRCm39) T437M probably damaging Het
Aox3 A T 1: 58,158,671 (GRCm39) I81F probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Blmh A G 11: 76,836,987 (GRCm39) Y23C unknown Het
Cacnb1 A G 11: 97,903,726 (GRCm39) V109A probably benign Het
Ccdc27 C T 4: 154,117,282 (GRCm39) R555H not run Het
Cep170 A C 1: 176,602,031 (GRCm39) S358R probably damaging Het
Cfap46 A T 7: 139,197,994 (GRCm39) probably null Het
Dclk1 G T 3: 55,163,549 (GRCm39) E214* probably null Het
Dhrs1 A G 14: 55,976,838 (GRCm39) L282P probably benign Het
Dlgap5 A G 14: 47,637,095 (GRCm39) L461P probably damaging Het
Elp2 G T 18: 24,747,503 (GRCm39) C185F probably benign Het
Fbxw7 T C 3: 84,832,892 (GRCm39) probably benign Het
Fga T C 3: 82,933,571 (GRCm39) V17A probably benign Het
Gm43302 T A 5: 105,441,493 (GRCm39) probably null Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Hcn1 A T 13: 118,062,083 (GRCm39) I450L unknown Het
Hydin T A 8: 111,329,968 (GRCm39) C4901S probably benign Het
Ino80 A T 2: 119,223,356 (GRCm39) I1186N probably damaging Het
Ints7 T A 1: 191,349,949 (GRCm39) I781N possibly damaging Het
Irf2 T A 8: 47,290,712 (GRCm39) V178E possibly damaging Het
Iws1 T A 18: 32,226,277 (GRCm39) S722T possibly damaging Het
Jak1 G A 4: 101,032,385 (GRCm39) S407F probably damaging Het
Kdm3a G T 6: 71,609,061 (GRCm39) D55E probably damaging Het
Kdm5d T C Y: 899,940 (GRCm39) S169P probably damaging Het
Kif15 A G 9: 122,846,722 (GRCm39) N1348S probably damaging Het
Kpna7 G A 5: 144,939,206 (GRCm39) P187L unknown Het
Krt35 A T 11: 99,986,984 (GRCm39) F10Y probably damaging Het
Lemd1 G T 1: 132,184,475 (GRCm39) V131F probably benign Het
Mcf2l G A 8: 12,965,439 (GRCm39) R4H probably benign Het
Megf6 C T 4: 154,351,898 (GRCm39) R1166C probably damaging Het
Mmp11 T C 10: 75,762,410 (GRCm39) I308V possibly damaging Het
Mrgpra4 A G 7: 47,631,238 (GRCm39) V121A probably benign Het
Myl2 T A 5: 122,239,885 (GRCm39) I26N probably damaging Het
Myo15a A G 11: 60,389,195 (GRCm39) M862V Het
Nckap5l T C 15: 99,331,354 (GRCm39) H64R probably damaging Het
Nipsnap2 A C 5: 129,821,774 (GRCm39) E90A probably benign Het
Nup210 G T 6: 91,050,313 (GRCm39) N385K probably damaging Het
Or2h2 T C 17: 37,396,937 (GRCm39) N40S probably damaging Het
Or2t48 C A 11: 58,419,994 (GRCm39) E273* probably null Het
Or5m11b T A 2: 85,805,932 (GRCm39) L115Q probably damaging Het
Or8c19-ps1 T C 9: 38,220,345 (GRCm39) F85L probably damaging Het
Or9e1 T C 11: 58,732,012 (GRCm39) V24A probably benign Het
Pcmt1 A T 10: 7,513,922 (GRCm39) M249K probably benign Het
Pde3a T C 6: 141,433,270 (GRCm39) L767P probably damaging Het
Pde8a T C 7: 80,956,456 (GRCm39) V285A possibly damaging Het
Pla2g4a T A 1: 149,716,416 (GRCm39) K690* probably null Het
Plxna4 T C 6: 32,473,691 (GRCm39) H442R probably benign Het
Polr1b A G 2: 128,967,931 (GRCm39) D1108G probably benign Het
Prkn G A 17: 12,280,434 (GRCm39) C430Y probably damaging Het
Sec23ip T C 7: 128,364,257 (GRCm39) probably null Het
Slc24a3 A G 2: 145,086,911 (GRCm39) D57G probably benign Het
Sprtn T G 8: 125,625,044 (GRCm39) F50V probably damaging Het
Srr A G 11: 74,803,828 (GRCm39) F43S probably damaging Het
Szt2 A G 4: 118,262,727 (GRCm39) F17L possibly damaging Het
Taar1 G T 10: 23,796,918 (GRCm39) M205I probably benign Het
Tas2r143 A G 6: 42,377,202 (GRCm39) I11V probably benign Het
Tlx1 T C 19: 45,139,655 (GRCm39) S101P probably damaging Het
Tmeff2 T C 1: 50,977,503 (GRCm39) probably null Het
Vhl A G 6: 113,606,451 (GRCm39) D156G possibly damaging Het
Washc4 T A 10: 83,426,897 (GRCm39) D1068E probably damaging Het
Zfp513 A G 5: 31,358,076 (GRCm39) V101A probably benign Het
Zfp82 T C 7: 29,761,669 (GRCm39) R71G probably benign Het
Other mutations in Gdi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02965:Gdi1 APN X 73,351,331 (GRCm39) missense probably benign
R3545:Gdi1 UTSW X 73,351,414 (GRCm39) missense possibly damaging 0.59
R3547:Gdi1 UTSW X 73,351,414 (GRCm39) missense possibly damaging 0.59
R7097:Gdi1 UTSW X 73,350,461 (GRCm39) missense probably benign 0.00
R7098:Gdi1 UTSW X 73,350,461 (GRCm39) missense probably benign 0.00
R7099:Gdi1 UTSW X 73,350,461 (GRCm39) missense probably benign 0.00
R7212:Gdi1 UTSW X 73,350,461 (GRCm39) missense probably benign 0.00
R7340:Gdi1 UTSW X 73,350,461 (GRCm39) missense probably benign 0.00
R7341:Gdi1 UTSW X 73,350,461 (GRCm39) missense probably benign 0.00
R7557:Gdi1 UTSW X 73,350,461 (GRCm39) missense probably benign 0.00
R7558:Gdi1 UTSW X 73,350,461 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCCTGGAGGAGGTAAGATTTC -3'
(R):5'- TGACCTGTGTCCAGAGGAAATAAG -3'

Sequencing Primer
(F):5'- CTTATTCTTAGACCTGGGCTTAGAC -3'
(R):5'- GACTGACCATATTCTTGAGATTGACC -3'
Posted On 2019-06-26