Mutagenetix > Incidental Mutation

Incidental Mutation 'R4539:Arhgef18'

333456

Institutional Source

Beutler Lab

Gene Symbol

Arhgef18

Ensembl Gene

ENSMUSG00000004568

Gene Name

Rho/Rac guanine nucleotide exchange factor 18

Synonyms

A430078G23Rik, D030053O22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3403415-3506601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3497070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 465 (M465T)

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: M465T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568
AA Change: M465T

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: ENSMUST00000145360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156085

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,793 (GRCm39)	T702A	probably benign	Het
Alms1	C	T	6: 85,597,460 (GRCm39)	T762I	possibly damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Camta1	T	C	4: 151,169,269 (GRCm39)	I161V	probably benign	Het
Cpeb4	G	A	11: 31,823,206 (GRCm39)	G307S	probably damaging	Het
Eps8l1	T	C	7: 4,481,623 (GRCm39)	V707A	probably damaging	Het
Espn	G	A	4: 152,218,665 (GRCm39)	Q473*	probably null	Het
Fut9	A	T	4: 25,619,793 (GRCm39)	H340Q	probably damaging	Het
Gm11554	A	T	11: 99,695,186 (GRCm39)		probably benign	Het
Hcar2	A	G	5: 124,002,793 (GRCm39)	F237L	probably damaging	Het
Hectd4	T	A	5: 121,452,970 (GRCm39)	C492*	probably null	Het
Lrrk2	C	T	15: 91,613,345 (GRCm39)	P823L	possibly damaging	Het
Luzp2	A	T	7: 54,713,037 (GRCm39)	Q91L	probably damaging	Het
Mapkapk5	T	A	5: 121,675,218 (GRCm39)	H117L	possibly damaging	Het
Myh14	A	G	7: 44,276,478 (GRCm39)	L1209P	probably damaging	Het
Myo3b	T	G	2: 69,869,491 (GRCm39)	M1R	probably null	Het
Nacad	A	T	11: 6,550,677 (GRCm39)	V838E	possibly damaging	Het
Neurl1a	T	A	19: 47,245,183 (GRCm39)	S458T	probably damaging	Het
Pdzrn4	A	G	15: 92,668,470 (GRCm39)	D874G	probably damaging	Het
Phykpl	A	G	11: 51,484,915 (GRCm39)	T292A	probably damaging	Het
Piezo2	A	G	18: 63,219,699 (GRCm39)	Y1003H	probably damaging	Het
Ppih	A	G	4: 119,177,656 (GRCm39)	S6P	probably benign	Het
Qrich1	A	G	9: 108,411,399 (GRCm39)	E308G	probably damaging	Het
Setx	A	G	2: 29,069,760 (GRCm39)	T2522A	probably benign	Het
Slc26a8	A	T	17: 28,878,591 (GRCm39)	M332K	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sphkap	A	G	1: 83,255,514 (GRCm39)	V745A	probably benign	Het
Swi5	T	C	2: 32,169,092 (GRCm39)	N118S	possibly damaging	Het
Tenm2	T	C	11: 35,937,607 (GRCm39)	T1689A	probably damaging	Het
Ttll9	C	T	2: 152,836,011 (GRCm39)	R252C	probably damaging	Het
Vars2	T	A	17: 35,977,780 (GRCm39)	E80V	probably damaging	Het
Zbtb39	G	A	10: 127,578,061 (GRCm39)	D212N	possibly damaging	Het
Zfp418	C	A	7: 7,184,276 (GRCm39)	Q80K	probably benign	Het
Zscan25	A	G	5: 145,225,201 (GRCm39)	D259G	probably benign	Het

Other mutations in Arhgef18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Arhgef18	APN	8	3,479,553 (GRCm39)	missense	probably damaging	1.00
IGL01629:Arhgef18	APN	8	3,431,942 (GRCm39)	missense	possibly damaging	0.62
IGL01649:Arhgef18	APN	8	3,491,211 (GRCm39)	splice site	probably benign
IGL01736:Arhgef18	APN	8	3,501,624 (GRCm39)	splice site	probably benign
IGL01743:Arhgef18	APN	8	3,414,697 (GRCm39)	missense	probably benign	0.01
IGL02206:Arhgef18	APN	8	3,495,034 (GRCm39)	missense	probably benign	0.00
IGL02401:Arhgef18	APN	8	3,487,078 (GRCm39)	missense	probably damaging	1.00
IGL02938:Arhgef18	APN	8	3,500,802 (GRCm39)	missense	probably benign	0.02
IGL02943:Arhgef18	APN	8	3,498,553 (GRCm39)	missense	probably damaging	0.99
IGL02990:Arhgef18	APN	8	3,494,904 (GRCm39)	missense	probably benign	0.02
IGL03162:Arhgef18	APN	8	3,491,301 (GRCm39)	splice site	probably null
IGL03334:Arhgef18	APN	8	3,438,023 (GRCm39)	missense	probably benign	0.04
R0417:Arhgef18	UTSW	8	3,438,957 (GRCm39)	utr 3 prime	probably benign
R0646:Arhgef18	UTSW	8	3,436,959 (GRCm39)	missense	probably damaging	0.99
R0759:Arhgef18	UTSW	8	3,438,822 (GRCm39)	utr 3 prime	probably benign
R0880:Arhgef18	UTSW	8	3,439,032 (GRCm39)	utr 3 prime	probably benign
R0980:Arhgef18	UTSW	8	3,439,095 (GRCm39)	utr 3 prime	probably benign
R1175:Arhgef18	UTSW	8	3,439,023 (GRCm39)	utr 3 prime	probably benign
R1622:Arhgef18	UTSW	8	3,491,272 (GRCm39)	missense	possibly damaging	0.46
R1649:Arhgef18	UTSW	8	3,439,094 (GRCm39)	utr 3 prime	probably benign
R1681:Arhgef18	UTSW	8	3,489,645 (GRCm39)	missense	probably damaging	1.00
R1726:Arhgef18	UTSW	8	3,504,228 (GRCm39)	missense	possibly damaging	0.46
R1781:Arhgef18	UTSW	8	3,430,495 (GRCm39)	missense	probably damaging	0.98
R2126:Arhgef18	UTSW	8	3,501,939 (GRCm39)	missense	probably damaging	0.99
R2161:Arhgef18	UTSW	8	3,489,575 (GRCm39)	nonsense	probably null
R2211:Arhgef18	UTSW	8	3,437,680 (GRCm39)	missense	possibly damaging	0.95
R2843:Arhgef18	UTSW	8	3,414,634 (GRCm39)	missense	possibly damaging	0.82
R2878:Arhgef18	UTSW	8	3,482,759 (GRCm39)	missense	probably benign
R3916:Arhgef18	UTSW	8	3,504,197 (GRCm39)	missense	probably benign
R4231:Arhgef18	UTSW	8	3,500,317 (GRCm39)	missense	possibly damaging	0.80
R4233:Arhgef18	UTSW	8	3,500,317 (GRCm39)	missense	possibly damaging	0.80
R4234:Arhgef18	UTSW	8	3,500,317 (GRCm39)	missense	possibly damaging	0.80
R4235:Arhgef18	UTSW	8	3,500,317 (GRCm39)	missense	possibly damaging	0.80
R4236:Arhgef18	UTSW	8	3,500,317 (GRCm39)	missense	possibly damaging	0.80
R4450:Arhgef18	UTSW	8	3,487,097 (GRCm39)	missense	probably damaging	0.97
R4670:Arhgef18	UTSW	8	3,484,897 (GRCm39)	missense	probably damaging	1.00
R4753:Arhgef18	UTSW	8	3,494,938 (GRCm39)	missense	probably damaging	1.00
R4897:Arhgef18	UTSW	8	3,494,979 (GRCm39)	missense	probably benign
R5313:Arhgef18	UTSW	8	3,501,629 (GRCm39)	critical splice acceptor site	probably null
R5319:Arhgef18	UTSW	8	3,435,010 (GRCm39)	critical splice donor site	probably null
R5415:Arhgef18	UTSW	8	3,438,075 (GRCm39)	missense	probably damaging	0.99
R5588:Arhgef18	UTSW	8	3,438,878 (GRCm39)	utr 3 prime	probably benign
R5698:Arhgef18	UTSW	8	3,489,499 (GRCm39)	missense	probably damaging	0.99
R5781:Arhgef18	UTSW	8	3,489,439 (GRCm39)	splice site	probably null
R5851:Arhgef18	UTSW	8	3,484,980 (GRCm39)	missense	probably damaging	1.00
R5897:Arhgef18	UTSW	8	3,489,682 (GRCm39)	missense	probably damaging	1.00
R5908:Arhgef18	UTSW	8	3,503,165 (GRCm39)	missense	probably damaging	1.00
R6123:Arhgef18	UTSW	8	3,487,091 (GRCm39)	missense	probably damaging	0.99
R6136:Arhgef18	UTSW	8	3,504,507 (GRCm39)	missense	probably benign
R6240:Arhgef18	UTSW	8	3,489,658 (GRCm39)	missense	probably damaging	1.00
R6455:Arhgef18	UTSW	8	3,438,753 (GRCm39)	missense	probably benign	0.16
R6617:Arhgef18	UTSW	8	3,489,592 (GRCm39)	missense	probably damaging	1.00
R7573:Arhgef18	UTSW	8	3,434,918 (GRCm39)	missense	probably damaging	0.96
R7575:Arhgef18	UTSW	8	3,501,635 (GRCm39)	missense	probably damaging	0.99
R7664:Arhgef18	UTSW	8	3,436,390 (GRCm39)	missense	probably damaging	0.98
R7731:Arhgef18	UTSW	8	3,434,936 (GRCm39)	missense	probably damaging	0.99
R7845:Arhgef18	UTSW	8	3,436,959 (GRCm39)	missense	probably damaging	0.99
R7851:Arhgef18	UTSW	8	3,498,409 (GRCm39)	missense	possibly damaging	0.46
R7947:Arhgef18	UTSW	8	3,482,775 (GRCm39)	missense	probably damaging	1.00
R8030:Arhgef18	UTSW	8	3,489,600 (GRCm39)	missense	probably damaging	1.00
R8167:Arhgef18	UTSW	8	3,403,636 (GRCm39)	start gained	probably benign
R8681:Arhgef18	UTSW	8	3,439,074 (GRCm39)	missense	unknown
R8798:Arhgef18	UTSW	8	3,414,645 (GRCm39)	missense	probably benign	0.01
R8815:Arhgef18	UTSW	8	3,430,410 (GRCm39)	missense	probably benign	0.01
R8825:Arhgef18	UTSW	8	3,436,951 (GRCm39)	missense	probably damaging	0.99
R8848:Arhgef18	UTSW	8	3,477,481 (GRCm39)	missense	probably benign	0.00
R9038:Arhgef18	UTSW	8	3,503,257 (GRCm39)	missense	probably benign	0.30
R9131:Arhgef18	UTSW	8	3,487,007 (GRCm39)	missense	possibly damaging	0.77
R9162:Arhgef18	UTSW	8	3,414,645 (GRCm39)	missense	probably benign	0.18
R9229:Arhgef18	UTSW	8	3,479,314 (GRCm39)	missense	probably benign	0.01
R9599:Arhgef18	UTSW	8	3,482,718 (GRCm39)	missense	possibly damaging	0.74
R9794:Arhgef18	UTSW	8	3,501,634 (GRCm39)	missense	probably benign	0.03
X0021:Arhgef18	UTSW	8	3,484,942 (GRCm39)	missense	probably damaging	1.00
Z1088:Arhgef18	UTSW	8	3,489,628 (GRCm39)	missense	probably damaging	1.00
Z1176:Arhgef18	UTSW	8	3,503,224 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGACAGCACAAGAGGGTC -3'
(R):5'- CTGACCCATGCATGTCCTTGTG -3'

Sequencing Primer
(F):5'- GGGTCAGGAAGAGATTGCTC -3'
(R):5'- TGGTACTGATGCTGGAACCC -3'

Posted On

2015-08-18