Mutagenetix > Incidental Mutation

Incidental Mutation 'R5313:Arhgef18'

405703

Institutional Source

Beutler Lab

Gene Symbol

Arhgef18

Ensembl Gene

ENSMUSG00000004568

Gene Name

Rho/Rac guanine nucleotide exchange factor 18

Synonyms

A430078G23Rik, D030053O22Rik

MMRRC Submission

042896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5313 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3403415-3506601 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 3501629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000004684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000004684

SMART Domains

Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568

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: 97.3%
20x: 95.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,022,603 (GRCm39)	C519R	probably damaging	Het
Adgra3	A	T	5: 50,118,651 (GRCm39)	S966T	probably benign	Het
Adgrl2	A	G	3: 148,529,349 (GRCm39)	Y1115H	probably damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Arhgef17	A	C	7: 100,578,131 (GRCm39)	L939W	probably damaging	Het
Armh3	G	A	19: 45,807,414 (GRCm39)	R661W	probably damaging	Het
Cacna1d	A	C	14: 30,068,798 (GRCm39)	I147S	probably benign	Het
Cdc42bpa	T	G	1: 179,911,998 (GRCm39)	D525E	probably benign	Het
Cdh6	T	A	15: 13,034,723 (GRCm39)	I646F	probably damaging	Het
Col6a5	T	G	9: 105,822,743 (GRCm39)	I205L	unknown	Het
Cpox	T	A	16: 58,498,311 (GRCm39)	Y381*	probably null	Het
Ctsc	T	C	7: 87,958,761 (GRCm39)	V347A	probably damaging	Het
Dnaaf9	C	T	2: 130,551,188 (GRCm39)	E1027K	probably damaging	Het
Ephb6	A	T	6: 41,593,727 (GRCm39)	T537S	possibly damaging	Het
Fam135a	T	C	1: 24,067,666 (GRCm39)	I168V	possibly damaging	Het
Fam234b	T	A	6: 135,186,185 (GRCm39)	D64E	possibly damaging	Het
Fgfr2	A	T	7: 129,842,970 (GRCm39)	D157E	probably benign	Het
Fstl5	A	T	3: 76,500,812 (GRCm39)	I414F	possibly damaging	Het
Glp2r	T	C	11: 67,648,357 (GRCm39)	D115G	probably damaging	Het
Gpr85	A	T	6: 13,836,301 (GRCm39)	V201D	probably damaging	Het
Ido1	A	C	8: 25,077,794 (GRCm39)	I91S	probably damaging	Het
Ism2	G	A	12: 87,326,536 (GRCm39)	P468S	probably damaging	Het
Map2	A	G	1: 66,464,538 (GRCm39)	K1643E	probably damaging	Het
Or10ak8	A	G	4: 118,773,995 (GRCm39)	V223A	probably benign	Het
Or4c122	C	T	2: 89,079,721 (GRCm39)	E106K	probably benign	Het
Or5b112	G	A	19: 13,319,429 (GRCm39)	M102I	probably benign	Het
Or6c2	C	T	10: 129,362,950 (GRCm39)	P285S	probably damaging	Het
Ppargc1a	A	G	5: 51,615,581 (GRCm39)		probably benign	Het
Prpf4b	T	C	13: 35,078,532 (GRCm39)	V714A	probably damaging	Het
Septin8	C	T	11: 53,426,809 (GRCm39)	T190I	probably damaging	Het
Slc18a2	A	G	19: 59,282,275 (GRCm39)	K494R	probably benign	Het
Slc34a2	A	T	5: 53,226,681 (GRCm39)	K542N	probably damaging	Het
Snd1	C	A	6: 28,668,600 (GRCm39)	T429K	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Timm10b	T	C	7: 105,290,287 (GRCm39)	L60P	probably damaging	Het
Tmprss11a	A	T	5: 86,559,674 (GRCm39)	Y373N	probably damaging	Het
Usp17la	T	A	7: 104,510,457 (GRCm39)	V354D	probably benign	Het
Zbtb7b	G	T	3: 89,288,626 (GRCm39)	T64K	probably damaging	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
R4539:Arhgef18	UTSW	8	3,497,070 (GRCm39)	missense	probably benign
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
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'- CAGCACTGAGTTCTGTCTCC -3'
(R):5'- ATCCTGTTGAGCGATGACCG -3'

Sequencing Primer
(F):5'- GGTGGTTTAGATCCCATTTGATAC -3'
(R):5'- GATGACCGCCTGGGGAC -3'

Posted On

2016-07-22