Mutagenetix > Incidental Mutation

Incidental Mutation 'R4084:Arhgdig'

317052

Institutional Source

Beutler Lab

Gene Symbol

Arhgdig

Ensembl Gene

ENSMUSG00000073433

Gene Name

Rho GDP dissociation inhibitor gamma

Synonyms

Rho-GDI2, Gdi5, Rho-GDI-3, RIP2

MMRRC Submission

040857-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R4084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26418157-26420324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26418799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 114 (D114G)

Ref Sequence

ENSEMBL: ENSMUSP00000113186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025019] [ENSMUST00000025020] [ENSMUST00000039113] [ENSMUST00000074370] [ENSMUST00000118904] [ENSMUST00000120333] [ENSMUST00000121959] [ENSMUST00000176961] [ENSMUST00000163421] [ENSMUST00000122058]

AlphaFold

Q62160

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025019
AA Change: D114G

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025019
Gene: ENSMUSG00000073433
AA Change: D114G

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
Pfam:Rho_GDI	29	222	1.2e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025020

SMART Domains

Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186

Domain	Start	End	E-Value	Type
DEP	34	109	7.78e-17	SMART
G_gamma	220	284	1.38e-19	SMART
GGL	223	284	1.1e-26	SMART
RGS	303	418	6.23e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039113

SMART Domains

Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	46	153	1.5e-26	PFAM
Pfam:Thioredoxin_6	182	369	3.2e-37	PFAM
Pfam:Thioredoxin	392	497	2.4e-27	PFAM
low complexity region	501	515	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074370

SMART Domains

Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182

Domain	Start	End	E-Value	Type
Pfam:AXIN1_TNKS_BD	13	85	7.5e-27	PFAM
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	523	3.2e-13	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
low complexity region	713	727	N/A	INTRINSIC
DAX	786	868	5.92e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118904

SMART Domains

Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182

Domain	Start	End	E-Value	Type
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	502	1.2e-18	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
coiled coil region	712	734	N/A	INTRINSIC
DAX	750	832	5.92e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120333

SMART Domains

Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	46	153	2.6e-27	PFAM
Pfam:Thioredoxin_6	181	366	2e-37	PFAM
Pfam:Thioredoxin	389	494	7.2e-28	PFAM
low complexity region	498	512	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121959
AA Change: D114G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113186
Gene: ENSMUSG00000073433
AA Change: D114G

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	14	197	6.4e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176847

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176961
AA Change: D114G

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433
AA Change: D114G

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	14	222	1.9e-83	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123670

Predicted Effect

probably benign
Transcript: ENSMUST00000163421

SMART Domains

Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182

Domain	Start	End	E-Value	Type
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	502	1.2e-18	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
coiled coil region	712	734	N/A	INTRINSIC
DAX	750	832	5.92e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148134

SMART Domains

Protein: ENSMUSP00000116340
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	19	124	2e-28	PFAM
low complexity region	128	142	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122058

SMART Domains

Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186

Domain	Start	End	E-Value	Type
DEP	32	107	7.78e-17	SMART
G_gamma	218	282	1.38e-19	SMART
GGL	221	282	1.1e-26	SMART
RGS	301	416	6.23e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142410

SMART Domains

Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	38	145	3.8e-25	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous null mice are fertile and exhibit no physical, behavioral, learning, or sleep abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	A	T	9: 102,601,884 (GRCm39)		probably null	Het
Btnl1	C	T	17: 34,600,133 (GRCm39)	T212I	possibly damaging	Het
Camkk1	C	T	11: 72,928,691 (GRCm39)	T410I	probably damaging	Het
Capn13	C	T	17: 73,644,444 (GRCm39)	G362R	probably benign	Het
Catsperd	A	G	17: 56,961,453 (GRCm39)	T392A	probably benign	Het
Ccdc180	A	G	4: 45,950,632 (GRCm39)	I1626V	probably benign	Het
Cdon	C	A	9: 35,389,427 (GRCm39)	T844K	probably damaging	Het
Col28a1	G	A	6: 8,013,131 (GRCm39)	Q974*	probably null	Het
Col28a1	C	G	6: 8,013,132 (GRCm39)	K973N	possibly damaging	Het
Dnhd1	T	C	7: 105,358,795 (GRCm39)	L3428P	probably damaging	Het
Ecm1	A	T	3: 95,641,676 (GRCm39)	N519K	probably damaging	Het
Fbxw11	T	C	11: 32,689,248 (GRCm39)	V457A	probably damaging	Het
Flna	C	T	X: 73,280,531 (GRCm39)	V1009M	possibly damaging	Het
Fmnl2	A	T	2: 52,997,507 (GRCm39)	K486I	possibly damaging	Het
Gja1	A	C	10: 56,264,607 (GRCm39)	Q322P	possibly damaging	Het
Gtpbp3	A	G	8: 71,943,156 (GRCm39)	Q189R	probably benign	Het
H2-Eb1	T	C	17: 34,533,417 (GRCm39)	V213A	probably damaging	Het
Herc4	G	T	10: 63,119,016 (GRCm39)	G322V	probably damaging	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Htra1	T	C	7: 130,538,074 (GRCm39)	S25P	probably benign	Het
Ifi44	A	G	3: 151,451,126 (GRCm39)		probably null	Het
Klhl24	T	A	16: 19,933,312 (GRCm39)	S308T	probably damaging	Het
Lamb2	A	G	9: 108,365,217 (GRCm39)	N1291S	probably benign	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,686,250 (GRCm39)	I634N	probably damaging	Het
Lipn	T	C	19: 34,056,340 (GRCm39)	F229L	probably benign	Het
Lmtk3	T	A	7: 45,442,716 (GRCm39)	S466R	probably damaging	Het
Lonrf2	G	A	1: 38,860,232 (GRCm39)	T22I	probably benign	Het
Macf1	T	C	4: 123,343,865 (GRCm39)	H2119R	probably damaging	Het
Muc6	C	T	7: 141,234,920 (GRCm39)	C634Y	probably damaging	Het
Nap1l1	G	A	10: 111,325,938 (GRCm39)	V86I	possibly damaging	Het
Noxred1	A	G	12: 87,280,258 (GRCm39)	Y25H	possibly damaging	Het
Nphp4	T	C	4: 152,573,248 (GRCm39)	L62P	probably damaging	Het
Or11h6	T	A	14: 50,880,305 (GRCm39)	I189N	probably damaging	Het
Or2b2	G	A	13: 21,887,238 (GRCm39)	W22*	probably null	Het
Or2b2	C	A	13: 21,887,239 (GRCm39)	L23M	probably damaging	Het
Or52ab4	T	G	7: 102,987,527 (GRCm39)	F89V	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Pla2g4f	C	G	2: 120,142,806 (GRCm39)	Q101H	probably benign	Het
Ppp1r15b	T	C	1: 133,060,805 (GRCm39)	F441L	probably damaging	Het
Prkaca	C	A	8: 84,721,939 (GRCm39)	P309T	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripor3	A	G	2: 167,826,386 (GRCm39)	Y720H	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,808 (GRCm39)	E751G	possibly damaging	Het
Rsf1	GCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,126 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,253 (GRCm39)	S686P	probably damaging	Het
Seh1l	T	C	18: 67,921,860 (GRCm39)	V240A	possibly damaging	Het
Slc10a2	T	G	8: 5,139,126 (GRCm39)	I273L	possibly damaging	Het
Slc23a2	A	T	2: 131,933,137 (GRCm39)	L107*	probably null	Het
Slc44a4	T	C	17: 35,136,323 (GRCm39)	L38P	probably damaging	Het
Slc6a18	C	T	13: 73,815,148 (GRCm39)	V387I	probably benign	Het
Slu7	G	A	11: 43,334,218 (GRCm39)	A415T	probably benign	Het
Tlr5	A	T	1: 182,802,413 (GRCm39)	R572S	possibly damaging	Het
Tmem45a2	C	T	16: 56,891,387 (GRCm39)	G3D	probably benign	Het
Trim24	A	G	6: 37,892,192 (GRCm39)	T242A	probably damaging	Het
Triobp	T	A	15: 78,857,871 (GRCm39)	N1157K	probably benign	Het
Ugt1a6a	A	T	1: 88,066,899 (GRCm39)	D235V	probably benign	Het
Vmn2r37	C	T	7: 9,218,984 (GRCm39)	V467I	probably benign	Het
Vmn2r7	C	T	3: 64,600,414 (GRCm39)	E495K	probably benign	Het
Vstm2a	A	G	11: 16,213,098 (GRCm39)	E161G	probably damaging	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp1005	T	A	2: 150,108,122 (GRCm39)	N27K	possibly damaging	Het
Zfp27	C	T	7: 29,594,792 (GRCm39)	R391H	possibly damaging	Het

Other mutations in Arhgdig

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0763:Arhgdig	UTSW	17	26,419,275 (GRCm39)	missense	probably damaging	1.00
R7145:Arhgdig	UTSW	17	26,418,337 (GRCm39)	nonsense	probably null
R7634:Arhgdig	UTSW	17	26,418,365 (GRCm39)	missense	probably damaging	1.00
R7962:Arhgdig	UTSW	17	26,418,608 (GRCm39)	missense	probably damaging	1.00
R9367:Arhgdig	UTSW	17	26,418,451 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GATGCAGACATTTGAGGCCAC -3'
(R):5'- CCTATCATCATGGACCTTACAGG -3'

Sequencing Primer
(F):5'- GAGGCCACTGACAATCTCCTTG -3'
(R):5'- TTACAGGTAACCCCCTCTGCAG -3'

Posted On

2015-05-15