Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02990:Arhgef18'

406873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef18

Ensembl Gene

ENSMUSG00000004568

Gene Name

rho/rac guanine nucleotide exchange factor (GEF) 18

Synonyms

D030053O22Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02990

Quality Score

Status

Chromosome

Chromosomal Location

3393006-3456601 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3444904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 388 (V388I)

Ref Sequence

ENSEMBL: ENSMUSP00000004684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004684]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004684
AA Change: V388I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568
AA Change: V388I

Domain	Start	End	E-Value	Type
RhoGEF	105	297	2.62e-58	SMART
PH	340	443	5.57e-12	SMART
low complexity region	446	456	N/A	INTRINSIC
low complexity region	646	663	N/A	INTRINSIC
coiled coil region	697	800	N/A	INTRINSIC
low complexity region	887	897	N/A	INTRINSIC
low complexity region	905	919	N/A	INTRINSIC
low complexity region	963	985	N/A	INTRINSIC
low complexity region	991	1010	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156085

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit greatly reduced viability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,163,206	V205F	probably benign	Het
Ampd3	T	C	7: 110,807,963		probably benign	Het
Atp6v1c2	C	T	12: 17,294,740	V169I	probably damaging	Het
Ccdc88b	G	T	19: 6,847,409	L1328I	probably damaging	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Cluh	G	A	11: 74,667,765		probably null	Het
Cpsf7	C	A	19: 10,531,795	N23K	probably benign	Het
Cyp4x1	A	T	4: 115,121,749	F191L	probably benign	Het
Dcn	A	G	10: 97,509,973	T216A	probably benign	Het
Dirc2	C	A	16: 35,735,491	V200F	possibly damaging	Het
Drosha	C	T	15: 12,827,267		probably benign	Het
Foxn4	A	G	5: 114,272,989	S24P	probably damaging	Het
Gm11733	A	T	11: 117,486,983		probably null	Het
Hapln1	A	C	13: 89,601,606	Y90S	probably benign	Het
Igf2r	C	A	17: 12,710,746		probably benign	Het
Jade2	A	G	11: 51,831,247		probably benign	Het
Kcnh7	A	T	2: 62,705,986	L1084H	probably benign	Het
Kif1a	T	C	1: 93,039,263	D1155G	probably damaging	Het
Llgl2	A	G	11: 115,854,333	M958V	probably benign	Het
Lrp2	A	G	2: 69,441,396	V4064A	possibly damaging	Het
Mau2	A	G	8: 70,022,255		probably benign	Het
Mllt10	T	C	2: 18,123,711		probably benign	Het
Myo15	A	G	11: 60,479,440	T1009A	probably benign	Het
Myo6	T	C	9: 80,276,403		probably null	Het
Neil2	G	T	14: 63,191,809	H12N	possibly damaging	Het
Nrde2	T	C	12: 100,142,096	E412G	probably damaging	Het
Olfr114	C	T	17: 37,589,668	M228I	probably benign	Het
Olfr1220	T	C	2: 89,097,129	Y266C	possibly damaging	Het
Patl2	T	G	2: 122,124,497		probably null	Het
Pkhd1	T	C	1: 20,522,963	H1642R	possibly damaging	Het
Ppp6r1	A	G	7: 4,643,023	I199T	possibly damaging	Het
Prom2	T	A	2: 127,528,814	T817S	probably benign	Het
Slc9b1	A	G	3: 135,394,983		probably null	Het
Sv2c	A	T	13: 96,088,378	I141K	probably damaging	Het
Tas2r139	A	T	6: 42,141,104	I57F	probably damaging	Het
Tep1	A	G	14: 50,868,246	S106P	possibly damaging	Het
Tnni3k	T	C	3: 154,957,758	D319G	probably benign	Het
Tom1l2	C	T	11: 60,230,236	D461N	probably damaging	Het
Ugt1a10	T	C	1: 88,055,879	L133S	probably damaging	Het
Usf2	T	G	7: 30,955,307	Q161P	probably benign	Het
Vmn1r15	A	G	6: 57,258,608	T154A	probably benign	Het
Vmn2r95	C	A	17: 18,452,036	Y678*	probably null	Het

Other mutations in Arhgef18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Arhgef18	APN	8	3429553	missense	probably damaging	1.00
IGL01649:Arhgef18	APN	8	3441211	splice site	probably benign
IGL01736:Arhgef18	APN	8	3451624	splice site	probably benign
IGL02206:Arhgef18	APN	8	3445034	missense	probably benign	0.00
IGL02401:Arhgef18	APN	8	3437078	missense	probably damaging	1.00
IGL02938:Arhgef18	APN	8	3450802	missense	probably benign	0.02
IGL02943:Arhgef18	APN	8	3448553	missense	probably damaging	0.99
IGL03162:Arhgef18	APN	8	3441301	splice site	probably null
R1622:Arhgef18	UTSW	8	3441272	missense	possibly damaging	0.46
R1681:Arhgef18	UTSW	8	3439645	missense	probably damaging	1.00
R1726:Arhgef18	UTSW	8	3454228	missense	possibly damaging	0.46
R2126:Arhgef18	UTSW	8	3451939	missense	probably damaging	0.99
R2161:Arhgef18	UTSW	8	3439575	nonsense	probably null
R2878:Arhgef18	UTSW	8	3432759	missense	probably benign
R3916:Arhgef18	UTSW	8	3454197	missense	probably benign
R4231:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4233:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4234:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4235:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4236:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4450:Arhgef18	UTSW	8	3437097	missense	probably damaging	0.97
R4539:Arhgef18	UTSW	8	3447070	missense	probably benign
R4670:Arhgef18	UTSW	8	3434897	missense	probably damaging	1.00
R4753:Arhgef18	UTSW	8	3444938	missense	probably damaging	1.00
R4897:Arhgef18	UTSW	8	3444979	missense	probably benign
R5313:Arhgef18	UTSW	8	3451629	critical splice acceptor site	probably null
R5698:Arhgef18	UTSW	8	3439499	missense	probably damaging	0.99
R5781:Arhgef18	UTSW	8	3439439	splice site	probably null
R5851:Arhgef18	UTSW	8	3434980	missense	probably damaging	1.00
R5897:Arhgef18	UTSW	8	3439682	missense	probably damaging	1.00
R5908:Arhgef18	UTSW	8	3453165	missense	probably damaging	1.00
R6123:Arhgef18	UTSW	8	3437091	missense	probably damaging	0.99
R6136:Arhgef18	UTSW	8	3454507	missense	probably benign
R6240:Arhgef18	UTSW	8	3439658	missense	probably damaging	1.00
R6617:Arhgef18	UTSW	8	3439592	missense	probably damaging	1.00
R7575:Arhgef18	UTSW	8	3451635	missense	probably damaging	0.99
R7851:Arhgef18	UTSW	8	3448409	missense	possibly damaging	0.46
R7947:Arhgef18	UTSW	8	3432775	missense	probably damaging	1.00
R8030:Arhgef18	UTSW	8	3439600	missense	probably damaging	1.00
R8848:Arhgef18	UTSW	8	3427481	missense	probably benign	0.00
R9038:Arhgef18	UTSW	8	3453257	missense	probably benign	0.30
R9131:Arhgef18	UTSW	8	3437007	missense	possibly damaging	0.77
R9229:Arhgef18	UTSW	8	3429314	missense	probably benign	0.01
X0021:Arhgef18	UTSW	8	3434942	missense	probably damaging	1.00
Z1088:Arhgef18	UTSW	8	3439628	missense	probably damaging	1.00
Z1176:Arhgef18	UTSW	8	3453224	missense	probably damaging	1.00

Posted On

2016-08-02