Mutagenetix > Incidental Mutation

Incidental Mutation 'R9131:Arhgef18'

693636

Institutional Source

Beutler Lab

Gene Symbol

Arhgef18

Ensembl Gene

ENSMUSG00000004568

Gene Name

Rho/Rac guanine nucleotide exchange factor 18

Synonyms

A430078G23Rik, D030053O22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9131 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

3403415-3506601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3487007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 242 (R242Q)

Ref Sequence

ENSEMBL: ENSMUSP00000004684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004684
AA Change: R242Q

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568
AA Change: R242Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,160,075 (GRCm39)	Y148F	possibly damaging	Het
Adamtsl3	A	G	7: 82,244,722 (GRCm39)	T1393A	probably benign	Het
Adgrf4	G	T	17: 42,978,258 (GRCm39)	Q362K	probably benign	Het
Akr1d1	A	G	6: 37,531,451 (GRCm39)	K163R	probably benign	Het
Arhgap42	A	G	9: 9,011,364 (GRCm39)	L474P	probably damaging	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
Atm	A	T	9: 53,445,044 (GRCm39)	I34N	probably benign	Het
Brms1l	A	G	12: 55,906,913 (GRCm39)	E160G	possibly damaging	Het
Camk2a	C	T	18: 61,076,327 (GRCm39)	H102Y	unknown	Het
Cd300lb	A	G	11: 114,819,134 (GRCm39)	V165A	probably damaging	Het
Cela1	G	A	15: 100,579,038 (GRCm39)	R207C	probably benign	Het
Chd7	T	C	4: 8,785,642 (GRCm39)	S649P		Het
Cilk1	A	T	9: 78,074,230 (GRCm39)	S551C	possibly damaging	Het
Clic3	A	G	2: 25,348,325 (GRCm39)	Q130R	probably benign	Het
Clns1a	G	A	7: 97,363,125 (GRCm39)	G166R	probably damaging	Het
Cngb1	A	T	8: 95,979,893 (GRCm39)	H1002Q	probably benign	Het
Cnnm1	C	A	19: 43,429,839 (GRCm39)	A319E	probably benign	Het
Cntnap5b	C	T	1: 99,978,368 (GRCm39)	T128I	probably benign	Het
Csf3r	G	A	4: 125,923,813 (GRCm39)	D108N	probably benign	Het
Ctsc	G	A	7: 87,959,016 (GRCm39)	W432*	probably null	Het
Dapk1	G	A	13: 60,909,208 (GRCm39)	G1274R	probably damaging	Het
Dennd2c	C	A	3: 103,065,031 (GRCm39)	P718Q	probably damaging	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah7b	C	T	1: 46,266,180 (GRCm39)	R2250C	probably damaging	Het
Dnmt3a	A	T	12: 3,916,136 (GRCm39)	Q107L	probably benign	Het
Eml2	A	G	7: 18,918,751 (GRCm39)	D67G		Het
Eml5	A	T	12: 98,825,099 (GRCm39)	V706E	probably damaging	Het
Eps8l1	A	G	7: 4,480,573 (GRCm39)	D509G		Het
Farsb	T	C	1: 78,459,951 (GRCm39)	K43E	probably benign	Het
Fbxw20	A	G	9: 109,052,514 (GRCm39)	F273S	probably damaging	Het
Fig4	A	T	10: 41,141,407 (GRCm39)	F284Y	possibly damaging	Het
Fsd1l	C	A	4: 53,694,756 (GRCm39)	N403K	probably damaging	Het
Fsip2	A	T	2: 82,813,170 (GRCm39)	H3163L	probably benign	Het
Gm38119	C	A	3: 92,645,403 (GRCm39)	G64*	probably null	Het
Gpr18	A	G	14: 122,149,173 (GRCm39)	V284A	probably benign	Het
Hacd3	A	G	9: 64,908,286 (GRCm39)	V170A	probably damaging	Het
Hps3	T	C	3: 20,083,350 (GRCm39)	E281G	probably damaging	Het
Ighv12-3	A	C	12: 114,330,546 (GRCm39)	V10G	probably benign	Het
Lrp1b	G	A	2: 40,589,590 (GRCm39)	R3862*	probably null	Het
Ltbp4	A	G	7: 27,036,976 (GRCm39)	L6P	unknown	Het
Ly6h	T	A	15: 75,437,522 (GRCm39)	T53S	probably damaging	Het
Ly6i	A	G	15: 74,855,006 (GRCm39)		probably benign	Het
Mat2a	G	A	6: 72,413,227 (GRCm39)	R168C	probably damaging	Het
Mdn1	T	A	4: 32,762,275 (GRCm39)	D5066E	possibly damaging	Het
Med23	T	A	10: 24,780,279 (GRCm39)	F976I		Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Mylk	G	T	16: 34,776,835 (GRCm39)	C1336F	probably benign	Het
Myo9a	G	C	9: 59,768,772 (GRCm39)	R918P	probably damaging	Het
Naglu	T	A	11: 100,967,731 (GRCm39)	D560E	probably damaging	Het
Nrg2	C	T	18: 36,157,396 (GRCm39)	V430M	probably damaging	Het
Oit3	T	C	10: 59,271,751 (GRCm39)	N202S	probably benign	Het
Or13a1	A	G	6: 116,470,881 (GRCm39)	T104A	probably benign	Het
Or1e29	A	T	11: 73,668,150 (GRCm39)	M1K	probably null	Het
Or52r1	T	C	7: 102,537,186 (GRCm39)	H58R	probably benign	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or6c63-ps1	C	A	10: 128,899,097 (GRCm39)	V260F	probably damaging	Het
Otog	T	A	7: 45,952,597 (GRCm39)	C423*	probably null	Het
Pcolce	T	A	5: 137,603,770 (GRCm39)	T401S	probably benign	Het
Pcsk2	T	C	2: 143,655,583 (GRCm39)	M589T	possibly damaging	Het
Pik3r5	T	C	11: 68,383,099 (GRCm39)	L306P	possibly damaging	Het
Pikfyve	T	A	1: 65,285,239 (GRCm39)	M826K	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,106 (GRCm39)	R898G	possibly damaging	Het
Prl7b1	A	G	13: 27,790,968 (GRCm39)	V39A	probably benign	Het
Pros1	T	A	16: 62,748,397 (GRCm39)	D623E	probably damaging	Het
Psg16	A	G	7: 16,832,024 (GRCm39)	D320G	probably benign	Het
Ptpre	T	A	7: 135,280,875 (GRCm39)	H612Q	probably damaging	Het
Rbm34	A	G	8: 127,679,928 (GRCm39)	S283P	probably damaging	Het
Rc3h2	A	T	2: 37,304,702 (GRCm39)	N19K	possibly damaging	Het
Sacm1l	T	A	9: 123,381,827 (GRCm39)	L143*	probably null	Het
Septin9	T	A	11: 117,181,460 (GRCm39)	S105T	probably damaging	Het
Shprh	T	C	10: 11,038,589 (GRCm39)	M448T	possibly damaging	Het
Slc6a20a	A	C	9: 123,466,063 (GRCm39)	*593E	probably null	Het
Smarcc1	A	G	9: 109,964,710 (GRCm39)	D89G	possibly damaging	Het
Svep1	T	A	4: 58,087,778 (GRCm39)	Y1767F	possibly damaging	Het
Tanc2	T	C	11: 105,689,603 (GRCm39)	V255A	probably benign	Het
Tiam1	A	G	16: 89,657,155 (GRCm39)	S694P	probably damaging	Het
Tmem130	T	C	5: 144,680,529 (GRCm39)	T292A		Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,105,203 (GRCm39)		probably benign	Het
Tpcn2	A	G	7: 144,814,662 (GRCm39)	Y480H	probably damaging	Het
Trf	G	T	9: 103,089,087 (GRCm39)	A600D	probably damaging	Het
Ttc16	A	T	2: 32,659,232 (GRCm39)	L346Q	probably damaging	Het
Vars1	A	C	17: 35,223,773 (GRCm39)	K229N	possibly damaging	Het
Vmn1r113	G	T	7: 20,521,342 (GRCm39)	G45C	probably damaging	Het
Vmn1r32	A	G	6: 66,530,020 (GRCm39)	V252A	probably benign	Het
Vmn2r93	A	G	17: 18,546,143 (GRCm39)	T672A	probably damaging	Het
Wdfy4	T	A	14: 32,819,807 (GRCm39)	T1466S		Het
Zcwpw1	T	C	5: 137,809,182 (GRCm39)	Y317H	probably damaging	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp273	A	T	13: 67,973,685 (GRCm39)	H271L	probably damaging	Het
Zfp764	C	A	7: 127,005,719 (GRCm39)	E20*	probably null	Het
Znfx1	A	T	2: 166,892,298 (GRCm39)	N639K	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
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
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
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'- TGGGACTCTGGGTTCAAACAC -3'
(R):5'- GTCCATTGATAAACTCCAGAGCTG -3'

Sequencing Primer
(F):5'- GGGACTCTGGGTTCAAACACAAATAC -3'
(R):5'- CAGAGCTGGTGGGCTGAG -3'

Posted On

2022-01-20