Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Gdi2'

365945

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gdi2

Ensembl Gene

ENSMUSG00000021218

Gene Name

GDP dissociation inhibitor 2

Synonyms

GDI beta, GDIB, Gdi3, GDI-B

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

3588075-3616261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3614623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 323 (T323S)

Ref Sequence

ENSEMBL: ENSMUSP00000062996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059515] [ENSMUST00000096069] [ENSMUST00000222365] [ENSMUST00000223396]

AlphaFold

Q61598

Predicted Effect

probably benign
Transcript: ENSMUST00000059515
AA Change: T323S

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218
AA Change: T323S

Domain	Start	End	E-Value	Type
Pfam:GDI	1	436	4.6e-239	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096069

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799

Domain	Start	End	E-Value	Type
Pfam:DUF3699	91	167	1.4e-24	PFAM
low complexity region	272	282	N/A	INTRINSIC
low complexity region	447	459	N/A	INTRINSIC
Pfam:DUF3715	533	695	2.3e-25	PFAM
low complexity region	1156	1168	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1312	1330	N/A	INTRINSIC
low complexity region	2012	2021	N/A	INTRINSIC
low complexity region	2250	2263	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000221581
AA Change: T60S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221875

Predicted Effect

probably benign
Transcript: ENSMUST00000222365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222615

Predicted Effect

probably benign
Transcript: ENSMUST00000223396
AA Change: T359S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000222909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223046

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. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6ap1	A	G	X: 73,340,924 (GRCm39)	D47G	probably benign	Het
Atr	T	C	9: 95,747,314 (GRCm39)	F199L	probably benign	Het
Bivm	C	A	1: 44,182,120 (GRCm39)	H443N	probably benign	Het
Btnl2	A	T	17: 34,580,043 (GRCm39)	H192L	probably benign	Het
Ccdc178	A	T	18: 22,253,775 (GRCm39)	C155S	probably benign	Het
Celsr1	C	A	15: 85,785,673 (GRCm39)	V2934L	probably benign	Het
Celsr3	T	C	9: 108,726,652 (GRCm39)	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,115,579 (GRCm39)	E585V	possibly damaging	Het
Elapor2	T	C	5: 9,511,478 (GRCm39)	Y947H	probably damaging	Het
Eps15l1	A	T	8: 73,138,606 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,051,491 (GRCm39)	T70K	probably damaging	Het
Ext2	A	T	2: 93,534,964 (GRCm39)		probably null	Het
Fam124a	G	A	14: 62,793,368 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,103 (GRCm39)	D201G	probably damaging	Het
Fgf14	C	T	14: 124,369,891 (GRCm39)	G136D	possibly damaging	Het
Gemin5	A	T	11: 58,047,556 (GRCm39)	N339K	probably damaging	Het
Golga4	A	G	9: 118,364,522 (GRCm39)	E286G	probably benign	Het
Golga4	A	C	9: 118,363,700 (GRCm39)	K233T	probably damaging	Het
Gosr1	A	G	11: 76,641,732 (GRCm39)		probably benign	Het
Haus8	A	G	8: 71,708,361 (GRCm39)		probably benign	Het
Itgb3bp	T	C	4: 99,690,373 (GRCm39)	T49A	probably null	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Lpo	A	G	11: 87,706,004 (GRCm39)	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,491,036 (GRCm39)	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,414,715 (GRCm39)	T2566P	probably benign	Het
Nalcn	T	C	14: 123,536,284 (GRCm39)	E1255G	probably null	Het
Nop56	A	T	2: 130,120,117 (GRCm39)	K157N	probably damaging	Het
Or10g9	C	T	9: 39,912,194 (GRCm39)	E110K	probably benign	Het
Or6c1	A	T	10: 129,517,857 (GRCm39)	Y250*	probably null	Het
Pcdh15	A	G	10: 74,340,648 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,074 (GRCm39)	H557R	probably damaging	Het
Plekha4	C	T	7: 45,181,787 (GRCm39)	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,345,192 (GRCm39)		probably benign	Het
Rgmb	C	T	17: 16,027,755 (GRCm39)	M321I	probably benign	Het
Rnf31	T	C	14: 55,833,131 (GRCm39)	S363P	probably benign	Het
Sap18b	T	A	8: 96,552,329 (GRCm39)	M113K	probably benign	Het
Scara3	T	A	14: 66,169,105 (GRCm39)	M171L	probably benign	Het
Slc9a2	T	G	1: 40,781,863 (GRCm39)	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,666,368 (GRCm39)	W180*	probably null	Het
Stat6	T	A	10: 127,482,809 (GRCm39)	M10K	probably benign	Het
Sun1	T	C	5: 139,221,243 (GRCm39)		probably benign	Het
Tead2	T	C	7: 44,869,858 (GRCm39)		probably benign	Het
Tjp1	T	G	7: 64,964,638 (GRCm39)	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,206,411 (GRCm39)	S295P	probably damaging	Het
Ttn	G	A	2: 76,612,756 (GRCm39)	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,711,664 (GRCm39)		probably null	Het
Vmn2r108	T	A	17: 20,691,545 (GRCm39)	H326L	probably benign	Het
Xdh	A	G	17: 74,250,840 (GRCm39)		probably null	Het
Zfp385b	A	G	2: 77,242,403 (GRCm39)	S439P	probably benign	Het
Zfp597	G	A	16: 3,683,805 (GRCm39)	S317L	probably benign	Het
Zfp638	A	G	6: 83,946,214 (GRCm39)	D1081G	probably damaging	Het
Zfp93	C	T	7: 23,974,509 (GRCm39)	H165Y	possibly damaging	Het

Other mutations in Gdi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Gdi2	APN	13	3,606,467 (GRCm39)	missense	probably benign	0.04
IGL01135:Gdi2	APN	13	3,598,855 (GRCm39)	splice site	probably benign
IGL01402:Gdi2	APN	13	3,614,611 (GRCm39)	missense	probably benign	0.24
IGL01404:Gdi2	APN	13	3,614,611 (GRCm39)	missense	probably benign	0.24
IGL02100:Gdi2	APN	13	3,606,373 (GRCm39)	missense	probably benign	0.03
IGL02305:Gdi2	APN	13	3,606,428 (GRCm39)	missense	probably damaging	1.00
IGL02545:Gdi2	APN	13	3,607,009 (GRCm39)	missense	probably damaging	1.00
IGL02561:Gdi2	APN	13	3,598,954 (GRCm39)	missense	possibly damaging	0.94
E0354:Gdi2	UTSW	13	3,611,939 (GRCm39)	splice site	probably null
R1612:Gdi2	UTSW	13	3,610,051 (GRCm39)	missense	probably benign	0.00
R1775:Gdi2	UTSW	13	3,610,018 (GRCm39)	missense	possibly damaging	0.71
R1803:Gdi2	UTSW	13	3,614,547 (GRCm39)	nonsense	probably null
R2254:Gdi2	UTSW	13	3,604,400 (GRCm39)	splice site	probably null
R2426:Gdi2	UTSW	13	3,612,034 (GRCm39)	missense	probably benign	0.17
R4081:Gdi2	UTSW	13	3,598,866 (GRCm39)	missense	probably benign	0.10
R6365:Gdi2	UTSW	13	3,615,093 (GRCm39)	missense	possibly damaging	0.82
R7130:Gdi2	UTSW	13	3,598,891 (GRCm39)	missense	probably benign	0.12
R7268:Gdi2	UTSW	13	3,606,363 (GRCm39)	nonsense	probably null
R7349:Gdi2	UTSW	13	3,606,395 (GRCm39)	missense	probably benign	0.16
R7590:Gdi2	UTSW	13	3,614,611 (GRCm39)	missense	probably benign	0.24
R7753:Gdi2	UTSW	13	3,598,956 (GRCm39)	missense	probably benign	0.01
R8114:Gdi2	UTSW	13	3,598,906 (GRCm39)	missense	probably damaging	1.00
R9375:Gdi2	UTSW	13	3,614,869 (GRCm39)	missense	probably benign	0.34
R9731:Gdi2	UTSW	13	3,588,299 (GRCm39)	start codon destroyed	probably null	0.06

Posted On

2015-12-18