Mutagenetix > Incidental Mutation

Incidental Mutation 'R7557:Gdi1'

584864

Institutional Source

Beutler Lab

Gene Symbol

Gdi1

Ensembl Gene

ENSMUSG00000015291

Gene Name

GDP dissociation inhibitor 1

Synonyms

GDIA, Rab GDIalpha

MMRRC Submission

045652-MU

Accession Numbers

Essential gene?

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

Stock #

R7557 (G1)

Quality Score

221.999

Status

Not 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: 99.9%
10x: 99.6%
20x: 98.9%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,044 (GRCm39)	Q1078*	probably null	Het
Aatk	T	C	11: 119,900,256 (GRCm39)	K1310R	possibly damaging	Het
Acaa2	C	T	18: 74,928,230 (GRCm39)	T153M	possibly damaging	Het
Add3	A	G	19: 53,227,868 (GRCm39)	T518A	probably damaging	Het
Cacnb4	T	C	2: 52,359,579 (GRCm39)	E143G	probably damaging	Het
Cd209a	T	A	8: 3,795,541 (GRCm39)	T177S	probably benign	Het
Chp1	T	A	2: 119,391,238 (GRCm39)	Y32N	probably damaging	Het
Clcn3	T	C	8: 61,390,402 (GRCm39)	T180A	probably damaging	Het
Dctn2	C	A	10: 127,114,273 (GRCm39)	T373N	probably benign	Het
Dipk2a	T	C	9: 94,402,591 (GRCm39)	D357G	probably damaging	Het
Ecpas	A	G	4: 58,849,691 (GRCm39)	Y483H	possibly damaging	Het
Emb	T	A	13: 117,386,252 (GRCm39)	N136K	probably benign	Het
Enpp2	A	T	15: 54,773,536 (GRCm39)	C62S	probably damaging	Het
Fbxo28	G	T	1: 182,169,000 (GRCm39)	A52E	unknown	Het
Gask1b	A	T	3: 79,793,915 (GRCm39)	K128*	probably null	Het
Ggta1	T	C	2: 35,292,548 (GRCm39)	D253G	probably damaging	Het
Gps1	C	T	11: 120,677,193 (GRCm39)	A164V	probably benign	Het
Gramd4	C	T	15: 85,985,101 (GRCm39)	Q146*	probably null	Het
Kcnh5	A	T	12: 75,054,399 (GRCm39)	M515K	possibly damaging	Het
Klrc3	T	C	6: 129,616,107 (GRCm39)	T203A	probably damaging	Het
Krt26	G	T	11: 99,225,567 (GRCm39)	R305S	probably damaging	Het
Lpin1	A	G	12: 16,630,793 (GRCm39)	V35A		Het
Marf1	C	T	16: 13,950,560 (GRCm39)	R942H	probably damaging	Het
Mfhas1	T	A	8: 36,056,758 (GRCm39)	M411K	possibly damaging	Het
Mok	A	G	12: 110,774,833 (GRCm39)	S330P	probably benign	Het
Msto1	A	G	3: 88,817,435 (GRCm39)		probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or10w1	T	A	19: 13,632,390 (GRCm39)	I199N	possibly damaging	Het
Pcdhgb4	T	A	18: 37,855,847 (GRCm39)	C747*	probably null	Het
Pih1d1	A	G	7: 44,806,183 (GRCm39)	T40A	probably benign	Het
Pih1d2	A	T	9: 50,536,216 (GRCm39)	E290D	probably damaging	Het
Plce1	A	G	19: 38,753,848 (GRCm39)	K1849E	probably benign	Het
Plekha5	T	C	6: 140,372,271 (GRCm39)	Y74H	probably damaging	Het
Pole	T	G	5: 110,460,860 (GRCm39)	I1183S	probably damaging	Het
Ptgs1	T	C	2: 36,135,223 (GRCm39)	S396P	possibly damaging	Het
Rasa2	T	C	9: 96,439,478 (GRCm39)	E575G	probably damaging	Het
Sec22b	A	G	3: 97,808,674 (GRCm39)	T5A	probably damaging	Het
Slc18a1	T	A	8: 69,518,213 (GRCm39)	D267V	probably damaging	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Tcea1	T	A	1: 4,965,213 (GRCm39)	C294*	probably null	Het
Tut7	T	C	13: 59,936,280 (GRCm39)	I1274V	possibly damaging	Het
Txndc15	T	A	13: 55,865,767 (GRCm39)	M77K	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,475 (GRCm39)	V377D	probably damaging	Het
Vmn2r7	A	G	3: 64,632,394 (GRCm39)	Y23H	probably benign	Het
Vwa3a	T	A	7: 120,394,841 (GRCm39)	M887K	possibly damaging	Het
Zbtb5	T	C	4: 44,995,196 (GRCm39)	N63D	probably 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
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
R7558:Gdi1	UTSW	X	73,350,461 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCCTGGAGGAGGTAAGATTTC -3'
(R):5'- AGCATCTTTACCAGCTGACC -3'

Sequencing Primer
(F):5'- CTTATTCTTAGACCTGGGCTTAGAC -3'
(R):5'- TACCAGCTGACCTGTGTCCAG -3'

Posted On

2019-10-17