Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Gdi1'

550739

Institutional Source

Beutler Lab

Gene Symbol

Gdi1

Ensembl Gene

ENSMUSG00000015291

Gene Name

GDP dissociation inhibitor 1

Synonyms

GDIA, Rab GDIalpha

MMRRC Submission

045191-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R7099 (G1)

Quality Score

221.999

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
Pfam:GDI	1	436	5.6e-245	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019231

SMART Domains

Protein: ENSMUSP00000019231
Gene: ENSMUSG00000019087

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	1	7	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147275

SMART Domains

Protein: ENSMUSP00000116162
Gene: ENSMUSG00000019087

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:GDI	1	78	1.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154630

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,591,151 (GRCm39)	A26T	probably benign	Het
Acly	T	C	11: 100,383,117 (GRCm39)		probably null	Het
Adam29	A	C	8: 56,324,439 (GRCm39)	L672V	probably benign	Het
Adgrf1	T	C	17: 43,621,493 (GRCm39)	S577P	probably benign	Het
Ankar	T	C	1: 72,682,452 (GRCm39)	K1371R	probably damaging	Het
Arid5b	T	C	10: 67,934,009 (GRCm39)	D631G	probably damaging	Het
Brpf3	T	C	17: 29,025,611 (GRCm39)	V228A	probably benign	Het
C3	T	C	17: 57,513,276 (GRCm39)	D1457G	probably benign	Het
Calr4	A	T	4: 109,099,426 (GRCm39)	N143I	probably benign	Het
Catsperd	T	G	17: 56,935,811 (GRCm39)		probably null	Het
Cobl	T	A	11: 12,246,540 (GRCm39)	H154L		Het
Cryzl2	G	A	1: 157,316,154 (GRCm39)		probably benign	Het
Dennd1c	A	G	17: 57,374,915 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,923,698 (GRCm39)	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,951,225 (GRCm39)	S218P	probably benign	Het
Fbxw27	G	T	9: 109,599,223 (GRCm39)	T398N	probably damaging	Het
Fhod3	A	G	18: 25,223,219 (GRCm39)	D855G	probably benign	Het
Flii	A	G	11: 60,611,481 (GRCm39)	V410A	probably benign	Het
Fsip2	C	A	2: 82,817,968 (GRCm39)	P4567Q	probably benign	Het
Fxyd1	T	G	7: 30,752,458 (GRCm39)	Q66H	probably damaging	Het
Gramd2b	C	T	18: 56,625,017 (GRCm39)	T370I	probably benign	Het
Kdr	A	G	5: 76,104,993 (GRCm39)	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,658,115 (GRCm39)	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,002,176 (GRCm39)	R92G	probably benign	Het
Map1a	T	A	2: 121,130,998 (GRCm39)	S605T	probably benign	Het
Megf8	A	T	7: 25,045,945 (GRCm39)	D1496V	probably damaging	Het
Mgam	T	C	6: 40,638,650 (GRCm39)	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,539,195 (GRCm39)	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,474,506 (GRCm39)		probably null	Het
Ndst1	A	G	18: 60,828,572 (GRCm39)	F661L	possibly damaging	Het
Neu3	G	A	7: 99,463,027 (GRCm39)	T232M	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nr5a1	G	T	2: 38,584,148 (GRCm39)	L424M	probably damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or4d10c	A	G	19: 12,065,530 (GRCm39)	F209L	possibly damaging	Het
Or4k51	A	T	2: 111,585,421 (GRCm39)	T276S	probably benign	Het
Or6d12	T	A	6: 116,493,721 (GRCm39)	*328R	probably null	Het
Or8g33	G	A	9: 39,337,599 (GRCm39)	T256I	probably benign	Het
Otud7a	A	G	7: 63,407,203 (GRCm39)	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,832 (GRCm39)	L237S	probably damaging	Het
Pias1	A	G	9: 62,788,427 (GRCm39)	M79T		Het
Prom2	T	C	2: 127,381,698 (GRCm39)	E206G	probably benign	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Sdad1	A	G	5: 92,441,832 (GRCm39)	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,725,731 (GRCm39)	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,063,860 (GRCm39)	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,714,030 (GRCm39)	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750 (GRCm38)	H53Q	probably damaging	Het
Spata22	T	C	11: 73,231,225 (GRCm39)	F160L	probably benign	Het
Stag1	G	A	9: 100,826,879 (GRCm39)	V949I	probably benign	Het
Syne1	T	C	10: 5,073,744 (GRCm39)	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,981,520 (GRCm39)	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,607,275 (GRCm39)	M226I	probably benign	Het
Tep1	T	C	14: 51,081,944 (GRCm39)		probably null	Het
Tigd2	C	A	6: 59,187,166 (GRCm39)	T11K	probably damaging	Het
Trappc9	A	G	15: 72,565,468 (GRCm39)	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,388,848 (GRCm39)	M455T	probably benign	Het
Usp42	A	T	5: 143,712,400 (GRCm39)	S95T	probably damaging	Het
Usp44	T	C	10: 93,686,049 (GRCm39)	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,320 (GRCm39)	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,675,540 (GRCm39)	I616N	probably damaging	Het
Zfp352	A	G	4: 90,113,117 (GRCm39)	K419R	probably benign	Het
Zfp595	T	A	13: 67,465,711 (GRCm39)	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,822,161 (GRCm39)	S301T	probably benign	Het
Zzef1	T	C	11: 72,763,475 (GRCm39)	V1374A	possibly damaging	Het

Other mutations in Gdi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2019-05-15