Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01712:Arhgdib'

104819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgdib

Ensembl Gene

ENSMUSG00000030220

Gene Name

Rho, GDP dissociation inhibitor beta

Synonyms

D4, Ly-GDI, Gdid4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01712

Quality Score

Status

Chromosome

Chromosomal Location

136900653-136918895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136901195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 178 (T178M)

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 damaging
Transcript: ENSMUST00000032344
AA Change: T178M

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

SMART Domains

Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220
AA Change: T178M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111891
AA Change: T178M

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

SMART Domains

Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220
AA Change: T178M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111892
AA Change: T178M

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

SMART Domains

Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220
AA Change: T178M

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

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,321 (GRCm39)	I164N	possibly damaging	Het
Adgrb3	A	G	1: 25,865,360 (GRCm39)	V161A	probably benign	Het
Atp11a	T	A	8: 12,901,138 (GRCm39)	I989K	probably benign	Het
Bcam	T	C	7: 19,492,692 (GRCm39)	S498G	probably damaging	Het
Bcas3	A	G	11: 85,471,874 (GRCm39)	I728V	probably damaging	Het
Cep57	G	T	9: 13,724,713 (GRCm39)	P119Q	possibly damaging	Het
Cimip2a	T	C	2: 25,108,804 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,106,036 (GRCm39)	I73N	probably damaging	Het
Cpa4	A	G	6: 30,590,815 (GRCm39)	D371G	possibly damaging	Het
Dnah7a	A	G	1: 53,462,429 (GRCm39)	S3721P	probably benign	Het
Fcrla	T	C	1: 170,749,192 (GRCm39)		probably null	Het
Foxg1	T	C	12: 49,432,403 (GRCm39)	S379P	possibly damaging	Het
Gatm	T	A	2: 122,431,306 (GRCm39)	Y227F	possibly damaging	Het
Grid2	A	T	6: 64,642,899 (GRCm39)	D887V	possibly damaging	Het
Gtpbp6	A	T	5: 110,252,245 (GRCm39)	I429N	probably benign	Het
Ighmbp2	A	G	19: 3,323,038 (GRCm39)		probably benign	Het
Irs4	T	C	X: 140,505,395 (GRCm39)	N934D	unknown	Het
Kif16b	T	A	2: 142,490,391 (GRCm39)	N1257I	probably damaging	Het
L1cam	T	C	X: 72,908,044 (GRCm39)	Y169C	probably damaging	Het
L3mbtl3	A	T	10: 26,152,133 (GRCm39)	M821K	probably damaging	Het
Lig3	A	G	11: 82,680,367 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,522,063 (GRCm39)	D32E	probably damaging	Het
Mcoln3	T	C	3: 145,834,019 (GRCm39)		probably benign	Het
Mgst2	T	C	3: 51,571,992 (GRCm39)	V40A	probably damaging	Het
Mov10l1	T	C	15: 88,908,969 (GRCm39)	S997P	probably damaging	Het
Mycbpap	G	T	11: 94,403,481 (GRCm39)	H187Q	possibly damaging	Het
Onecut2	T	A	18: 64,519,673 (GRCm39)	S478T	probably damaging	Het
Or2n1d	A	T	17: 38,646,848 (GRCm39)	T267S	probably benign	Het
Or52h7	T	C	7: 104,214,226 (GRCm39)	V266A	probably benign	Het
Pcdhb5	A	T	18: 37,454,306 (GRCm39)	I229F	probably damaging	Het
Pfas	A	G	11: 68,881,886 (GRCm39)	V933A	probably benign	Het
Phldb2	A	T	16: 45,571,792 (GRCm39)	I1200N	probably damaging	Het
Pla2g4e	C	A	2: 120,019,884 (GRCm39)		probably null	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Rhot2	A	G	17: 26,060,334 (GRCm39)		probably null	Het
Serpina3f	C	T	12: 104,184,657 (GRCm39)	P267L	probably damaging	Het
Sppl2a	C	T	2: 126,746,823 (GRCm39)		probably benign	Het
Tas2r122	A	T	6: 132,688,725 (GRCm39)	M56K	possibly damaging	Het
Tbxas1	A	G	6: 39,057,994 (GRCm39)	T450A	probably benign	Het
Tex16	T	C	X: 111,003,451 (GRCm39)	S87P	probably damaging	Het
Them7	T	A	2: 105,209,230 (GRCm39)	F183L	possibly damaging	Het
Tmbim7	A	G	5: 3,720,074 (GRCm39)	T116A	probably damaging	Het
Tomm40	G	T	7: 19,437,288 (GRCm39)	S224R	probably benign	Het
Top3a	A	T	11: 60,652,562 (GRCm39)	I84N	probably damaging	Het
Vmn1r28	A	G	6: 58,242,393 (GRCm39)	T79A	probably benign	Het
Vmn2r61	A	T	7: 41,909,661 (GRCm39)	Y62F	probably damaging	Het
Zbtb42	T	C	12: 112,646,718 (GRCm39)	C298R	probably benign	Het
Zfp395	G	A	14: 65,623,836 (GRCm39)	E102K	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
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
R4289:Arhgdib	UTSW	6	136,901,156 (GRCm39)	missense	probably benign	0.02
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

Posted On

2014-01-21