Mutagenetix > Incidental Mutation

Incidental Mutation 'R4289:Arhgdib'

322331

Institutional Source

Beutler Lab

Gene Symbol

Arhgdib

Ensembl Gene

ENSMUSG00000030220

Gene Name

Rho, GDP dissociation inhibitor beta

Synonyms

D4, Ly-GDI, Gdid4

MMRRC Submission

041654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4289 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136900653-136918895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136901156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 191 (N191S)

Ref Sequence

ENSEMBL: ENSMUSP00000107523 (fasta)

Gene Model

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

AlphaFold

Q61599

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 benign
Transcript: ENSMUST00000032344
AA Change: N191S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220
AA Change: N191S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111891
AA Change: N191S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220
AA Change: N191S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111892
AA Change: N191S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220
AA Change: N191S

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

0.0620

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (56/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	C	T	3: 32,766,263 (GRCm39)	T39M	possibly damaging	Het
Arhgef39	A	G	4: 43,497,353 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,947,233 (GRCm39)	R1139C	probably damaging	Het
Cdhr5	A	T	7: 140,852,752 (GRCm39)	I78N	probably damaging	Het
Cfap97	T	A	8: 46,645,698 (GRCm39)	N525K	probably benign	Het
Cntn2	T	A	1: 132,455,481 (GRCm39)	Y252F	probably benign	Het
Cyp3a57	G	A	5: 145,286,207 (GRCm39)	G48S	probably damaging	Het
Cyp4v3	A	C	8: 45,781,260 (GRCm39)	F73V	possibly damaging	Het
Ear10	T	C	14: 44,160,404 (GRCm39)	D141G	probably benign	Het
Fbn2	T	C	18: 58,168,411 (GRCm39)	I2309V	probably damaging	Het
Fcrl5	A	G	3: 87,349,531 (GRCm39)	D102G	probably benign	Het
Fdxacb1	A	T	9: 50,683,879 (GRCm39)	Q614L	probably damaging	Het
Gm10267	T	C	18: 44,290,331 (GRCm39)	T59A	probably damaging	Het
Gm5581	C	T	6: 131,144,519 (GRCm39)		noncoding transcript	Het
Gm5592	G	T	7: 40,808,336 (GRCm39)		probably benign	Het
Gtf2a1l	A	G	17: 89,001,884 (GRCm39)	T200A	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ift122	T	C	6: 115,900,852 (GRCm39)	C1057R	probably damaging	Het
Kirrel3	A	T	9: 34,934,769 (GRCm39)	N73I	probably benign	Het
Kndc1	A	G	7: 139,490,798 (GRCm39)	I433M	probably benign	Het
Mks1	T	C	11: 87,747,530 (GRCm39)		probably benign	Het
Mmp14	A	T	14: 54,673,665 (GRCm39)	K110*	probably null	Het
Mms19	A	G	19: 41,933,992 (GRCm39)	L938P	probably damaging	Het
Mrpl36	A	T	13: 73,479,777 (GRCm39)		probably null	Het
Mypn	T	C	10: 62,966,961 (GRCm39)	E905G	probably damaging	Het
Ncam1	G	T	9: 49,468,472 (GRCm39)	T329N	probably damaging	Het
Nfkbie	T	C	17: 45,869,516 (GRCm39)	L157P	probably damaging	Het
Or14c45	T	A	7: 86,176,262 (GRCm39)	I99N	probably damaging	Het
Or4f47	T	A	2: 111,972,319 (GRCm39)	S10T	probably benign	Het
Pappa	C	T	4: 65,074,100 (GRCm39)	A218V	probably benign	Het
Plekhg5	T	C	4: 152,196,884 (GRCm39)	Y737H	probably benign	Het
Plod2	G	A	9: 92,485,041 (GRCm39)	R514Q	possibly damaging	Het
Plxnb1	C	T	9: 108,943,420 (GRCm39)	R1888W	probably damaging	Het
Prss45	A	G	9: 110,669,997 (GRCm39)	T269A	probably benign	Het
Ptpn13	A	G	5: 103,681,151 (GRCm39)	T784A	probably damaging	Het
Pycr3	T	C	15: 75,790,655 (GRCm39)	N68S	probably benign	Het
Rbis	T	C	3: 14,674,714 (GRCm39)	M1V	probably null	Het
Rdh14	A	T	12: 10,444,949 (GRCm39)	N267Y	probably benign	Het
Rph3a	G	A	5: 121,111,368 (GRCm39)	R71C	probably damaging	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Spata13	T	A	14: 60,928,523 (GRCm39)	V27E	probably damaging	Het
Tbc1d1	T	A	5: 64,417,771 (GRCm39)	S312T	probably damaging	Het
Tcp11l2	T	C	10: 84,440,937 (GRCm39)		probably null	Het
Trdn	C	T	10: 33,340,578 (GRCm39)	S604L	probably benign	Het
Ttn	T	C	2: 76,640,742 (GRCm39)	T13669A	probably benign	Het
Tyw3	A	T	3: 154,302,645 (GRCm39)	F30I	probably damaging	Het
Vmn1r227	G	T	17: 20,956,092 (GRCm39)		noncoding transcript	Het
Vmn2r74	C	T	7: 85,606,562 (GRCm39)	M261I	probably benign	Het
Zfp217	C	T	2: 169,956,707 (GRCm39)	G764S	probably benign	Het
Zfp267	A	G	3: 36,213,747 (GRCm39)	N27S	possibly damaging	Het
Zfp748	T	A	13: 67,689,202 (GRCm39)	H686L	probably damaging	Het

Other mutations in Arhgdib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Arhgdib	APN	6	136,910,622 (GRCm39)	missense	probably damaging	1.00
IGL01712:Arhgdib	APN	6	136,901,195 (GRCm39)	missense	probably damaging	1.00
IGL02589:Arhgdib	APN	6	136,910,576 (GRCm39)	intron	probably benign
IGL02648:Arhgdib	APN	6	136,910,647 (GRCm39)	missense	probably damaging	1.00
IGL02682:Arhgdib	APN	6	136,901,166 (GRCm39)	missense	probably damaging	1.00
IGL03381:Arhgdib	APN	6	136,909,314 (GRCm39)	missense	probably benign	0.30
K7371:Arhgdib	UTSW	6	136,909,297 (GRCm39)	splice site	probably null
PIT4810001:Arhgdib	UTSW	6	136,901,162 (GRCm39)	missense	probably damaging	1.00
R0270:Arhgdib	UTSW	6	136,903,732 (GRCm39)	missense	probably damaging	1.00
R1755:Arhgdib	UTSW	6	136,906,612 (GRCm39)	nonsense	probably null
R5927:Arhgdib	UTSW	6	136,901,136 (GRCm39)	missense	probably damaging	1.00
R6364:Arhgdib	UTSW	6	136,909,253 (GRCm39)	splice site	probably null
R8010:Arhgdib	UTSW	6	136,903,720 (GRCm39)	missense	probably damaging	1.00
R8031:Arhgdib	UTSW	6	136,901,274 (GRCm39)	missense	probably benign	0.10
R9794:Arhgdib	UTSW	6	136,906,608 (GRCm39)	critical splice donor site	probably null
Z1088:Arhgdib	UTSW	6	136,910,616 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGGGAACACTCTGAGAG -3'
(R):5'- CTTTCTTCCCAGTGGATAAAGC -3'

Sequencing Primer
(F):5'- AACATATTGGTGATGAAATGTGTGTG -3'
(R):5'- AAGCCACATTCATGGTTGGC -3'

Posted On

2015-06-20