Mutagenetix > Incidental Mutations

Incidental Mutation 'R5927:Arhgdib'

459941

Institutional Source

Beutler Lab

Gene Symbol

Arhgdib

Ensembl Gene

ENSMUSG00000030220

Gene Name

Rho, GDP dissociation inhibitor (GDI) beta

Synonyms

Ly-GDI, D4, Gdid4

MMRRC Submission

044122-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136923655-136941899 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136924138 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 198 (W198R)

Ref Sequence

ENSEMBL: ENSMUSP00000107523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032343] [ENSMUST00000032344] [ENSMUST00000111891] [ENSMUST00000111892] [ENSMUST00000204627] [ENSMUST00000204934]

Predicted Effect

probably benign
Transcript: ENSMUST00000032343

SMART Domains

Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC
Pfam:Thioredoxin_6	64	251	2.8e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000032344
AA Change: W198R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220
AA Change: W198R

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	1	197	4e-94	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111891
AA Change: W198R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220
AA Change: W198R

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	6	197	5.3e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111892
AA Change: W198R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220
AA Change: W198R

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	1	197	4e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162755

Predicted Effect

probably benign
Transcript: ENSMUST00000204627

SMART Domains

Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330

Domain	Start	End	E-Value	Type
Pfam:PDE6_gamma	2	74	1.5e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204934

SMART Domains

Protein: ENSMUSP00000145103
Gene: ENSMUSG00000030220

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	1	89	1.5e-38	PFAM

Meta Mutation Damage Score

0.9033

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the Rho guanine nucleotide dissociation inhibitor (GDI) family. This gene is expressed at high levels in hematopoietic cells. This protein is cytosolic, and dissociation of Rho from this protein is required for membrane association and activation of Rho by Guanine Nucleotide Exchange Factors (GEFs). C-terminal truncations of this gene product have been reported to promote metastasis. Multiple transcript variants and protein isoforms exist. [provided by RefSeq, Aug 2014]
PHENOTYPE: A homozygous null mutation results in mice that are viable and fertile. Immune responses are similar to controls in mice, but in vitro analysis demonstrated an increased B cell proliferative response upon lectin stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,939,108	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,507,636		probably null	Het
Atad5	T	A	11: 80,127,285	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,308,621	K500*	probably null	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Cmip	A	T	8: 117,257,309	T70S	possibly damaging	Het
Col22a1	G	T	15: 72,006,966	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,361,680	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,444,323		probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,381,672		probably benign	Het
Dnah5	A	T	15: 28,335,718	T2277S	probably benign	Het
Dysf	T	A	6: 84,207,212	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,290,243		probably benign	Het
Elp3	A	G	14: 65,582,177	Y111H	probably damaging	Het
Eps8l2	A	T	7: 141,356,346	Q243L	probably benign	Het
Eri2	C	A	7: 119,786,068	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,166,887	N614K	probably damaging	Het
Gm5108	T	G	5: 67,976,871	I74S	unknown	Het
Gpn1	T	C	5: 31,500,891	F130L	probably damaging	Het
Gpr176	T	A	2: 118,373,040	I50F	probably benign	Het
Gramd1a	A	G	7: 31,139,821	S221P	probably benign	Het
Hivep3	A	G	4: 120,097,108	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,879,399		noncoding transcript	Het
Itgb2	C	A	10: 77,546,034	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,843,005	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,909,376		probably benign	Het
Kif15	A	G	9: 123,017,261	S76G	probably benign	Het
Kpna3	C	T	14: 61,384,647	V223I	probably damaging	Het
Krt80	A	G	15: 101,364,208		probably benign	Het
Lama4	A	G	10: 39,072,812	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,725,424		probably benign	Het
Map4k3	A	G	17: 80,613,919	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,202	N255K	possibly damaging	Het
Npat	A	T	9: 53,562,221	K438*	probably null	Het
Olfr1246	T	A	2: 89,591,100	N5I	possibly damaging	Het
P4htm	T	C	9: 108,597,383	Y61C	probably damaging	Het
Polr3h	G	T	15: 81,917,279		probably null	Het
Prlr	C	T	15: 10,322,446	T176I	probably benign	Het
Psme4	T	G	11: 30,804,294	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 101,060,652	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792	E448G	probably damaging	Het
Rpf1	A	T	3: 146,519,463		probably null	Het
Sectm1b	T	C	11: 121,055,674	I132V	probably benign	Het
Sestd1	T	A	2: 77,187,159	H688L	probably benign	Het
Sidt2	T	C	9: 45,944,454	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,111,111	K938M	probably damaging	Het
Sin3b	C	A	8: 72,749,878	R647S	probably benign	Het
Slc16a14	T	C	1: 84,912,267	H439R	possibly damaging	Het
Stc1	T	C	14: 69,032,373	V134A	probably benign	Het
Stk11ip	G	A	1: 75,524,691	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,784,853	A359T	possibly damaging	Het
Thra	G	A	11: 98,763,688	V295I	possibly damaging	Het
Tmem8	T	C	17: 26,121,998	Y692H	probably benign	Het
Tnr	T	C	1: 159,912,766	M1170T	probably damaging	Het
Tpcn2	T	A	7: 145,278,784	I112F	probably damaging	Het
Trdv2-2	T	C	14: 53,961,541	L96P	probably damaging	Het
Trim24	T	A	6: 37,958,569	W832R	probably damaging	Het
Usp4	T	G	9: 108,391,760	S891A	probably benign	Het
Vmn1r88	A	T	7: 13,178,513	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,624,494	L60S	probably benign	Het
Wdr74	T	C	19: 8,739,833	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,268,653		probably benign	Het
Xpo1	A	T	11: 23,268,656		probably benign	Het
Zfp850	C	A	7: 27,990,195	G196V	probably benign	Het

Other mutations in Arhgdib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Arhgdib	APN	6	136933624	missense	probably damaging	1.00
IGL01712:Arhgdib	APN	6	136924197	missense	probably damaging	1.00
IGL02589:Arhgdib	APN	6	136933578	intron	probably benign
IGL02648:Arhgdib	APN	6	136933649	missense	probably damaging	1.00
IGL02682:Arhgdib	APN	6	136924168	missense	probably damaging	1.00
IGL03381:Arhgdib	APN	6	136932316	missense	probably benign	0.30
K7371:Arhgdib	UTSW	6	136932299	splice site	probably null
PIT4810001:Arhgdib	UTSW	6	136924164	missense	probably damaging	1.00
R0270:Arhgdib	UTSW	6	136926734	missense	probably damaging	1.00
R1755:Arhgdib	UTSW	6	136929614	nonsense	probably null
R4289:Arhgdib	UTSW	6	136924158	missense	probably benign	0.02
R6364:Arhgdib	UTSW	6	136932255	splice site	probably null
R8010:Arhgdib	UTSW	6	136926722	missense	probably damaging	1.00
R8031:Arhgdib	UTSW	6	136924276	missense	probably benign	0.10
Z1088:Arhgdib	UTSW	6	136933618	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGGGTTTTAAGTCTCATTTGCAG -3'
(R):5'- CCACATTCATGGTTGGCAGC -3'

Sequencing Primer
(F):5'- GTCTCATTTGCAGGGAACAC -3'
(R):5'- CACATTCATGGTTGGCAGCTATGG -3'

Posted On

2017-02-28