Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02965:Gdi1'

365535

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gdi1

Ensembl Gene

ENSMUSG00000015291

Gene Name

GDP dissociation inhibitor 1

Synonyms

GDIA, Rab GDIalpha

Accession Numbers

Essential gene?

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

Stock #

IGL02965

Quality Score

Status

Chromosome

Chromosomal Location

73348618-73355473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73351331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 148 (A148S)

Ref Sequence

ENSEMBL: ENSMUSP00000015435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015435] [ENSMUST00000019231] [ENSMUST00000114171] [ENSMUST00000124797] [ENSMUST00000130581] [ENSMUST00000153141] [ENSMUST00000147275]

AlphaFold

P50396

Predicted Effect

probably benign
Transcript: ENSMUST00000015435
AA Change: A148S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015435
Gene: ENSMUSG00000015291
AA Change: A148S

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

noncoding transcript
Transcript: ENSMUST00000128915

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

noncoding transcript
Transcript: ENSMUST00000135041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144317

Predicted Effect

probably benign
Transcript: ENSMUST00000153141

SMART Domains

Protein: ENSMUSP00000119805
Gene: ENSMUSG00000015291

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

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: ENSMUST00000154630

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,071,439 (GRCm39)	K1471R	probably benign	Het
Add1	A	G	5: 34,777,467 (GRCm39)	S77G	probably damaging	Het
Atm	G	T	9: 53,364,863 (GRCm39)	N2642K	probably damaging	Het
Atp6v0a2	T	A	5: 124,767,267 (GRCm39)	M10K	possibly damaging	Het
Btd	T	A	14: 31,389,193 (GRCm39)	S305T	probably damaging	Het
Cmya5	C	T	13: 93,229,065 (GRCm39)	V2008I	probably benign	Het
Cpd	T	G	11: 76,681,814 (GRCm39)		probably benign	Het
Dis3l	A	G	9: 64,217,766 (GRCm39)	F772L	probably damaging	Het
Dlg5	A	T	14: 24,222,091 (GRCm39)	I517N	probably damaging	Het
Fig4	G	A	10: 41,161,661 (GRCm39)	T34M	probably damaging	Het
Flna	C	T	X: 73,270,816 (GRCm39)	V2235I	probably damaging	Het
Flot2	T	C	11: 77,950,031 (GRCm39)	I371T	possibly damaging	Het
Fsip2	G	A	2: 82,813,398 (GRCm39)	S3239N	probably benign	Het
Gbp3	A	G	3: 142,273,343 (GRCm39)	I297V	probably benign	Het
Gcnt3	T	C	9: 69,942,235 (GRCm39)	E111G	probably benign	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Hsp90aa1	A	G	12: 110,662,113 (GRCm39)	M1T	probably null	Het
Il22b	A	G	10: 118,130,762 (GRCm39)	S45P	probably damaging	Het
Inppl1	C	A	7: 101,477,478 (GRCm39)	V715F	possibly damaging	Het
Kansl1	T	C	11: 104,225,991 (GRCm39)	Y975C	probably damaging	Het
Kif18b	A	G	11: 102,807,338 (GRCm39)		probably benign	Het
Krt40	T	A	11: 99,432,492 (GRCm39)	R175W	probably damaging	Het
Map3k19	T	C	1: 127,751,803 (GRCm39)	D516G	probably damaging	Het
Mfsd3	A	G	15: 76,587,352 (GRCm39)	H345R	probably benign	Het
Mlkl	A	T	8: 112,058,469 (GRCm39)	I162N	probably benign	Het
Mtnr1a	A	T	8: 45,522,419 (GRCm39)	N58I	probably damaging	Het
Nsmf	T	C	2: 24,951,774 (GRCm39)	V499A	probably damaging	Het
Nudt6	A	G	3: 37,473,655 (GRCm39)	L22P	probably damaging	Het
Nxf7	T	G	X: 134,490,159 (GRCm39)	E35A	probably damaging	Het
Or11h23	A	C	14: 50,948,653 (GRCm39)	I289L	probably damaging	Het
Paf1	T	C	7: 28,095,629 (GRCm39)		probably null	Het
Pcdhb11	G	T	18: 37,557,021 (GRCm39)	V784L	probably benign	Het
Pglyrp2	T	C	17: 32,637,560 (GRCm39)	D156G	probably benign	Het
Pnpt1	A	G	11: 29,106,939 (GRCm39)	D670G	probably damaging	Het
Polr1b	T	A	2: 128,967,443 (GRCm39)	H945Q	probably benign	Het
Ptk6	C	T	2: 180,840,861 (GRCm39)		probably benign	Het
Rftn1	C	T	17: 50,362,280 (GRCm39)	E273K	probably benign	Het
Rnf125	A	G	18: 21,116,168 (GRCm39)	I117V	probably benign	Het
Robo4	A	G	9: 37,321,765 (GRCm39)	K742R	possibly damaging	Het
Sez6l	T	C	5: 112,623,440 (GRCm39)	E37G	probably damaging	Het
Skint4	A	T	4: 111,993,218 (GRCm39)	I306L	probably benign	Het
Sntb1	A	T	15: 55,506,081 (GRCm39)	Y497*	probably null	Het
Snx27	C	A	3: 94,489,733 (GRCm39)	V42L	probably damaging	Het
Sorbs1	T	A	19: 40,365,187 (GRCm39)	T199S	probably benign	Het
Sorcs2	A	G	5: 36,235,301 (GRCm39)	Y72H	probably benign	Het
Spef2	G	T	15: 9,725,192 (GRCm39)		probably benign	Het
Sucla2	G	T	14: 73,816,871 (GRCm39)	V204L	probably benign	Het
Tescl	C	A	7: 24,033,098 (GRCm39)	V76F	probably damaging	Het
Tnxb	T	A	17: 34,928,628 (GRCm39)	Y2681N	possibly damaging	Het
Usp42	T	C	5: 143,713,769 (GRCm39)	T2A	probably damaging	Het
Vdac3-ps1	T	A	13: 18,205,431 (GRCm39)		noncoding transcript	Het
Wapl	T	A	14: 34,461,181 (GRCm39)		probably benign	Het

Other mutations in Gdi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-12-18