Mutagenetix > Incidental Mutation

Incidental Mutation 'R6364:Arhgdib'

535638

Institutional Source

Beutler Lab

Gene Symbol

Arhgdib

Ensembl Gene

ENSMUSG00000030220

Gene Name

Rho, GDP dissociation inhibitor beta

Synonyms

D4, Ly-GDI, Gdid4

MMRRC Submission

044514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6364 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136900653-136918895 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 136909253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145103 (fasta)

Gene Model

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

AlphaFold

Q61599

Predicted Effect

probably null
Transcript: ENSMUST00000032344

SMART Domains

Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220

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

Predicted Effect

probably null
Transcript: ENSMUST00000111891

SMART Domains

Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220

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

Predicted Effect

probably null
Transcript: ENSMUST00000111892

SMART Domains

Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220

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

Predicted Effect

probably null
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

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,869,673 (GRCm39)	Y234C	possibly damaging	Het
Ambra1	C	A	2: 91,603,661 (GRCm39)	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,546,328 (GRCm39)		probably null	Het
Apol11b	A	G	15: 77,522,258 (GRCm39)	V13A	possibly damaging	Het
B3galt1	T	A	2: 67,949,016 (GRCm39)	S244T	probably damaging	Het
Bace2	A	G	16: 97,214,633 (GRCm39)	I274V	probably benign	Het
Bfsp2	A	T	9: 103,325,827 (GRCm39)	V272D	probably damaging	Het
Blm	A	T	7: 80,144,274 (GRCm39)	C782*	probably null	Het
Cfi	G	A	3: 129,666,495 (GRCm39)	S406N	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cic	C	A	7: 24,972,248 (GRCm39)	H660N	possibly damaging	Het
Cops3	A	G	11: 59,726,230 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,950,939 (GRCm39)	V502I	possibly damaging	Het
Dync2i1	A	T	12: 116,205,352 (GRCm39)	D412E	probably damaging	Het
Epop	A	G	11: 97,519,513 (GRCm39)	S199P	probably benign	Het
Evi5	G	T	5: 107,989,979 (GRCm39)	P80Q	probably damaging	Het
Faf1	T	C	4: 109,818,997 (GRCm39)	V623A	possibly damaging	Het
Fam83c	T	C	2: 155,676,443 (GRCm39)	D109G	probably damaging	Het
Fam83d	T	C	2: 158,625,179 (GRCm39)		probably null	Het
Flacc1	G	T	1: 58,697,531 (GRCm39)	A403D	probably damaging	Het
Foxn3	T	C	12: 99,354,952 (GRCm39)	N71D	probably benign	Het
Gm7298	A	G	6: 121,756,402 (GRCm39)	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,507,878 (GRCm39)	E396G	possibly damaging	Het
Htra2	C	A	6: 83,030,027 (GRCm39)	V311F	probably damaging	Het
Kif6	A	T	17: 49,927,651 (GRCm39)	T33S	probably benign	Het
Kmt2c	T	C	5: 25,514,634 (GRCm39)	I3070V	probably null	Het
Krtap5-2	A	T	7: 141,728,800 (GRCm39)	C293*	probably null	Het
Lrp3	T	A	7: 34,903,134 (GRCm39)	D404V	probably benign	Het
LTO1	A	G	7: 144,473,005 (GRCm39)	D105G	probably benign	Het
Mc2r	T	G	18: 68,540,607 (GRCm39)	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,774,300 (GRCm39)	M253T	possibly damaging	Het
Nfat5	A	G	8: 108,094,909 (GRCm39)	N531S	probably benign	Het
Niban3	G	A	8: 72,051,733 (GRCm39)	G23S	probably benign	Het
Npr2	T	A	4: 43,643,622 (GRCm39)	I550N	probably damaging	Het
Npy6r	T	C	18: 44,409,578 (GRCm39)	I333T	possibly damaging	Het
Nup88	C	T	11: 70,838,612 (GRCm39)	R468Q	probably benign	Het
Nup98	G	A	7: 101,825,522 (GRCm39)	T422I	probably damaging	Het
Or10aa1	T	A	1: 173,869,778 (GRCm39)	H87Q	possibly damaging	Het
Otud4	A	G	8: 80,372,970 (GRCm39)	N96S	probably damaging	Het
Paqr6	T	C	3: 88,273,265 (GRCm39)	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,138,035 (GRCm39)	T90S	probably benign	Het
Ptbp2	A	T	3: 119,534,091 (GRCm39)	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,304,029 (GRCm39)	G596V	probably damaging	Het
Rdm1	G	A	11: 101,521,068 (GRCm39)	R94H	probably benign	Het
Rergl	A	T	6: 139,477,746 (GRCm39)	F28I	probably damaging	Het
Rif1	G	T	2: 51,997,681 (GRCm39)	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,420,516 (GRCm39)	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,057,136 (GRCm39)	Q72*	probably null	Het
Sdk1	G	T	5: 141,948,464 (GRCm39)	S603I	probably benign	Het
Sdsl	T	C	5: 120,598,674 (GRCm39)	I147M	probably damaging	Het
Serpina6	T	C	12: 103,620,495 (GRCm39)	N85D	probably benign	Het
Serpinf2	A	G	11: 75,327,315 (GRCm39)	I204T	probably damaging	Het
Shank2	A	G	7: 143,964,146 (GRCm39)	S795G	probably benign	Het
Simc1	C	T	13: 54,672,413 (GRCm39)	Q254*	probably null	Het
Slc30a3	G	A	5: 31,246,083 (GRCm39)	P216S	possibly damaging	Het
Smim14	T	A	5: 65,610,639 (GRCm39)	I53F	probably benign	Het
Sp3	T	C	2: 72,801,285 (GRCm39)	T243A	probably benign	Het
Srpk2	A	G	5: 23,745,465 (GRCm39)	F164L	probably damaging	Het
Stard9	T	C	2: 120,543,910 (GRCm39)	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,130,630 (GRCm39)	T267A	possibly damaging	Het
Tgm7	T	A	2: 120,926,878 (GRCm39)	R424*	probably null	Het
Tmbim6	T	C	15: 99,304,066 (GRCm39)	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,020,722 (GRCm39)		probably benign	Het
Tomm7	A	G	5: 24,049,028 (GRCm39)	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,691,875 (GRCm39)	Y263C	probably damaging	Het
Trim34b	T	C	7: 103,985,733 (GRCm39)	F456S	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vmn2r108	A	G	17: 20,691,260 (GRCm39)	I421T	probably benign	Het
Wdr43	A	G	17: 71,964,649 (GRCm39)	E676G	probably damaging	Het
Zcchc14	G	T	8: 122,331,598 (GRCm39)		probably benign	Het
Zfp64	C	A	2: 168,754,186 (GRCm39)	G25V	probably damaging	Het
Zswim8	C	A	14: 20,763,079 (GRCm39)	P326H	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
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
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'- TCACTTACCCACAAAAGGTGTC -3'
(R):5'- ATACTCCCATGCATGCACTC -3'

Sequencing Primer
(F):5'- GTTCCACTACATTGAGTCAGGAGC -3'
(R):5'- TGCATGCACTCACGAGCTC -3'

Posted On

2018-09-14