Mutagenetix > Incidental Mutation

Incidental Mutation 'R7962:Arhgdig'

650187

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

Accession Numbers

Essential gene?

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

Stock #

R7962 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26418157-26420324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26418608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 153 (T153A)

Ref Sequence

ENSEMBL: ENSMUSP00000025019 (fasta)

Gene Model

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

AlphaFold

Q62160

Predicted Effect

probably damaging
Transcript: ENSMUST00000025019
AA Change: T153A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025019
Gene: ENSMUSG00000073433
AA Change: T153A

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

probably damaging
Transcript: ENSMUST00000121959
AA Change: T147A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113186
Gene: ENSMUSG00000073433
AA Change: T147A

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

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

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: 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 damaging
Transcript: ENSMUST00000176961
AA Change: T153A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433
AA Change: T153A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,296,428 (GRCm39)	F991L	probably damaging	Het
Ahnak	A	G	19: 8,990,164 (GRCm39)	D3816G	unknown	Het
Ash2l	T	C	8: 26,329,792 (GRCm39)	D122G	probably damaging	Het
Bora	A	G	14: 99,310,162 (GRCm39)	K497R	probably benign	Het
Btbd9	T	C	17: 30,736,177 (GRCm39)	H312R	probably damaging	Het
Cbr2	T	C	11: 120,620,609 (GRCm39)	D225G	probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap70	G	A	14: 20,486,854 (GRCm39)	T275M	probably benign	Het
Clca4b	T	C	3: 144,622,421 (GRCm39)	D548G	possibly damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cyp3a44	T	A	5: 145,738,135 (GRCm39)	I57L	probably benign	Het
Dbx2	C	T	15: 95,552,199 (GRCm39)	G149S	probably benign	Het
Dennd2a	A	G	6: 39,457,207 (GRCm39)	V745A	possibly damaging	Het
Dock10	A	T	1: 80,564,085 (GRCm39)	S509R	possibly damaging	Het
Enpp3	T	C	10: 24,660,752 (GRCm39)	Y630C	probably damaging	Het
Eomes	C	T	9: 118,307,574 (GRCm39)		probably benign	Het
Fchsd1	A	T	18: 38,097,212 (GRCm39)	V385E	probably damaging	Het
Flg	A	T	3: 93,193,984 (GRCm39)	H34L	unknown	Het
Frs3	G	T	17: 48,010,463 (GRCm39)	E32D	possibly damaging	Het
Gm14443	C	T	2: 175,012,035 (GRCm39)	C137Y	probably benign	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Havcr1	T	A	11: 46,643,402 (GRCm39)	C107*	probably null	Het
Hectd4	C	T	5: 121,448,692 (GRCm39)	R347W	probably damaging	Het
Hspbp1	A	G	7: 4,684,841 (GRCm39)		probably null	Het
Irs1	C	T	1: 82,266,443 (GRCm39)	R591H	possibly damaging	Het
Kif5b	A	G	18: 6,241,040 (GRCm39)	V23A	probably benign	Het
Myo1e	A	T	9: 70,242,501 (GRCm39)	I339F	possibly damaging	Het
Nkx2-5	T	C	17: 27,058,150 (GRCm39)	Y268C	probably damaging	Het
Or7g12	T	C	9: 18,899,952 (GRCm39)	S223P	probably damaging	Het
Polrmt	T	C	10: 79,574,623 (GRCm39)	M857V	probably damaging	Het
Prkd3	T	A	17: 79,315,691 (GRCm39)	M1L	not run	Het
Prss3b	A	C	6: 41,012,387 (GRCm39)	F9C	probably benign	Het
Psmc3	T	A	2: 90,887,007 (GRCm39)	V202E	possibly damaging	Het
Rab3d	G	A	9: 21,826,229 (GRCm39)	R93C	probably damaging	Het
Rasgrf2	A	C	13: 92,167,300 (GRCm39)	Y258D	probably damaging	Het
Rassf8	G	A	6: 145,761,669 (GRCm39)		probably null	Het
Rcbtb1	A	C	14: 59,459,016 (GRCm39)	S199R	probably benign	Het
Rif1	T	G	2: 51,964,288 (GRCm39)	V45G	probably damaging	Het
Riok3	G	A	18: 12,269,776 (GRCm39)	G69E	probably benign	Het
Scn1a	A	G	2: 66,158,786 (GRCm39)	L378P	probably damaging	Het
Sil1	A	T	18: 35,481,719 (GRCm39)	N113K	probably benign	Het
Slc35c2	C	T	2: 165,119,462 (GRCm39)	D293N	probably damaging	Het
Slc37a3	A	T	6: 39,324,325 (GRCm39)	S308T	possibly damaging	Het
Smarca5	A	T	8: 81,463,388 (GRCm39)	V60E	probably benign	Het
Smok3c	T	A	5: 138,063,341 (GRCm39)	V276D	probably damaging	Het
Snx29	G	A	16: 11,231,221 (GRCm39)		probably null	Het
Spata24	T	C	18: 35,795,093 (GRCm39)	E30G	probably damaging	Het
Stard13	T	A	5: 150,975,838 (GRCm39)	I777F	probably damaging	Het
Synpo2	A	G	3: 123,029,635 (GRCm39)	C8R	probably benign	Het
Tmem104	T	C	11: 115,134,307 (GRCm39)	V281A	probably damaging	Het
Tmprss11a	C	T	5: 86,567,879 (GRCm39)	G283R	probably damaging	Het
Trpc2	G	A	7: 101,738,388 (GRCm39)	V457M	probably benign	Het
Usp53	A	T	3: 122,728,000 (GRCm39)	S861T	possibly damaging	Het
Uty	G	T	Y: 1,154,210 (GRCm39)	S738*	probably null	Het
Wdr17	C	T	8: 55,113,806 (GRCm39)		probably null	Het
Wdr7	A	T	18: 64,037,157 (GRCm39)	S1194C	probably damaging	Het
Zyx	A	C	6: 42,333,505 (GRCm39)	D477A	probably 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
R4084:Arhgdig	UTSW	17	26,418,799 (GRCm39)	missense	possibly damaging	0.89
R7145:Arhgdig	UTSW	17	26,418,337 (GRCm39)	nonsense	probably null
R7634:Arhgdig	UTSW	17	26,418,365 (GRCm39)	missense	probably damaging	1.00
R9367:Arhgdig	UTSW	17	26,418,451 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGTGCTTCCTCCACTGAAG -3'
(R):5'- TGTCAATTCCCTAACAGGAGAC -3'

Sequencing Primer
(F):5'- GAAGTCACAAATTCATACTCCTGGG -3'
(R):5'- GCACTGAAAAACCAGGTGTTTGTC -3'

Posted On

2020-09-15