Incidental Mutation 'R7340:Gdi1'
ID 569816
Institutional Source Beutler Lab
Gene Symbol Gdi1
Ensembl Gene ENSMUSG00000015291
Gene Name GDP dissociation inhibitor 1
Synonyms GDIA, Rab GDIalpha
MMRRC Submission 045430-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R7340 (G1)
Quality Score 221.999
Status 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 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Adam30 A T 3: 98,069,637 (GRCm39) N490I probably benign Het
Ankrd55 A T 13: 112,492,497 (GRCm39) I223F probably damaging Het
Ano8 T A 8: 71,935,655 (GRCm39) E321V probably damaging Het
Apc2 A G 10: 80,149,316 (GRCm39) K1457E probably benign Het
Asb15 T A 6: 24,558,513 (GRCm39) V38E probably benign Het
Atp4a T C 7: 30,416,155 (GRCm39) S417P possibly damaging Het
AY358078 A G 14: 52,063,716 (GRCm39) N454S probably damaging Het
Cables2 A G 2: 179,903,450 (GRCm39) Y245H Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Camsap3 G A 8: 3,637,960 (GRCm39) probably null Het
Ccdc178 A T 18: 22,150,518 (GRCm39) V705E probably benign Het
Ccdc47 T C 11: 106,091,799 (GRCm39) Q472R possibly damaging Het
Ccdc62 A G 5: 124,089,283 (GRCm39) D307G probably damaging Het
Cdcp3 A G 7: 130,879,344 (GRCm39) T1788A unknown Het
Cdh23 A G 10: 60,366,775 (GRCm39) I235T probably benign Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cfap65 T C 1: 74,960,742 (GRCm39) N743D probably benign Het
Cimap1b T A 15: 89,262,610 (GRCm39) T116S probably benign Het
Clec16a A G 16: 10,398,827 (GRCm39) N329S probably null Het
Col25a1 A G 3: 130,340,006 (GRCm39) probably null Het
Daam1 T G 12: 72,035,713 (GRCm39) D969E probably benign Het
Dntt A C 19: 41,047,004 (GRCm39) probably null Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dst T A 1: 34,229,810 (GRCm39) Y2468N probably benign Het
Exosc9 A G 3: 36,615,297 (GRCm39) T262A possibly damaging Het
Exph5 G A 9: 53,288,309 (GRCm39) A1797T probably damaging Het
Fbp2 A T 13: 62,985,061 (GRCm39) Y287N probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Fus T A 7: 127,581,123 (GRCm39) probably null Het
Galnt9 T A 5: 110,762,054 (GRCm39) N397K probably damaging Het
Gga1 A G 15: 78,775,651 (GRCm39) T369A probably benign Het
Gp1ba T C 11: 70,531,119 (GRCm39) I295T unknown Het
Hk2 T C 6: 82,705,873 (GRCm39) E810G probably benign Het
Igsf10 A G 3: 59,233,189 (GRCm39) V1848A probably damaging Het
Insrr G A 3: 87,721,623 (GRCm39) probably null Het
Ip6k3 T A 17: 27,367,504 (GRCm39) M231L probably benign Het
Itgb8 T C 12: 119,155,939 (GRCm39) N171S probably benign Het
Ldlrad3 T C 2: 101,897,184 (GRCm39) probably null Het
Ltbp1 T A 17: 75,634,223 (GRCm39) C886* probably null Het
Mettl13 T C 1: 162,366,547 (GRCm39) D444G probably benign Het
Mns1 A G 9: 72,356,025 (GRCm39) Y224C probably damaging Het
Mri1 C T 8: 84,983,525 (GRCm39) R122Q probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo5c A C 9: 75,196,423 (GRCm39) K1290Q probably benign Het
Nlrp12 T G 7: 3,281,755 (GRCm39) Q842H possibly damaging Het
Oga G A 19: 45,755,895 (GRCm39) Q583* probably null Het
Or14c44 T C 7: 86,061,957 (GRCm39) L129P possibly damaging Het
Or14j8 T A 17: 38,263,413 (GRCm39) R167S probably benign Het
Or2t1 A T 14: 14,328,401 (GRCm38) T97S possibly damaging Het
Or5d39 T C 2: 87,979,620 (GRCm39) T248A possibly damaging Het
Otoa A G 7: 120,729,288 (GRCm39) T554A probably benign Het
Per1 A G 11: 68,994,008 (GRCm39) D438G probably damaging Het
Phactr3 G A 2: 177,975,854 (GRCm39) R533H probably damaging Het
Phykpl T C 11: 51,490,370 (GRCm39) F417S probably damaging Het
Pole A T 5: 110,482,330 (GRCm39) T2057S probably benign Het
Polq A G 16: 36,881,288 (GRCm39) T1151A probably benign Het
Polr1g T C 7: 19,093,073 (GRCm39) T36A probably benign Het
Rbm26 A T 14: 105,389,976 (GRCm39) V216E possibly damaging Het
Ryk T C 9: 102,775,737 (GRCm39) I449T probably damaging Het
Sap25 A G 5: 137,640,935 (GRCm39) T225A probably benign Het
Sart3 A G 5: 113,882,728 (GRCm39) M864T probably benign Het
Sec31b T C 19: 44,517,161 (GRCm39) S280G probably benign Het
Sema4d A T 13: 51,877,598 (GRCm39) I78N probably damaging Het
Sgip1 G C 4: 102,778,661 (GRCm39) R419S unknown Het
Slc13a3 T C 2: 165,272,210 (GRCm39) I278V probably benign Het
Slc2a5 A G 4: 150,224,439 (GRCm39) D312G probably benign Het
Slc39a2 A T 14: 52,131,660 (GRCm39) Q77L possibly damaging Het
Srbd1 A T 17: 86,443,782 (GRCm39) V148E probably benign Het
Syngr2 A G 11: 117,703,322 (GRCm39) E46G probably damaging Het
Taok1 A G 11: 77,470,643 (GRCm39) V54A possibly damaging Het
Tas2r106 T A 6: 131,655,185 (GRCm39) H222L probably damaging Het
Tcaf3 A G 6: 42,566,848 (GRCm39) I747T probably benign Het
Tmem151b G T 17: 45,856,195 (GRCm39) P415Q probably benign Het
Tmf1 T C 6: 97,145,061 (GRCm39) D659G possibly damaging Het
Tnn G T 1: 159,973,592 (GRCm39) D258E probably damaging Het
Traj33 A G 14: 54,422,862 (GRCm39) I16V unknown Het
Ttll13 G T 7: 79,906,772 (GRCm39) C480F probably damaging Het
Ttn T C 2: 76,714,415 (GRCm39) N8137S unknown Het
Vmn1r85 T C 7: 12,819,073 (GRCm39) N24D probably damaging Het
Wdr81 T C 11: 75,335,525 (GRCm39) Q649R probably null Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zc3h6 A G 2: 128,835,110 (GRCm39) D82G possibly damaging 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
R7163: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
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 2019-09-13