Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01649:Arhgef18'

102786

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01649

Quality Score

Status

Chromosome

Chromosomal Location

3403415-3506601 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 3491211 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 benign
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: 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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,217,116 (GRCm39)	S220P	probably benign	Het
Adam18	T	C	8: 25,104,912 (GRCm39)	N634S	possibly damaging	Het
Birc6	A	G	17: 74,911,541 (GRCm39)	S1518G	probably benign	Het
Cltc	A	G	11: 86,617,226 (GRCm39)	V341A	probably benign	Het
Dlg5	A	G	14: 24,188,759 (GRCm39)	V1721A	probably damaging	Het
Dnah10	A	T	5: 124,809,553 (GRCm39)	I274F	probably damaging	Het
Dock1	T	A	7: 134,379,139 (GRCm39)	L622Q	probably damaging	Het
Dysf	A	G	6: 84,176,821 (GRCm39)	D1960G	probably damaging	Het
Fat3	T	C	9: 16,288,015 (GRCm39)	T503A	possibly damaging	Het
Glb1	A	G	9: 114,253,016 (GRCm39)	Y73C	probably damaging	Het
Gm9396	G	T	3: 129,862,268 (GRCm39)		noncoding transcript	Het
Gml2	G	T	15: 74,696,070 (GRCm39)	E155*	probably null	Het
Ikzf4	G	A	10: 128,471,689 (GRCm39)	R323C	probably damaging	Het
Kiz	A	G	2: 146,731,229 (GRCm39)	T240A	probably benign	Het
Lzts3	T	C	2: 130,477,351 (GRCm39)	K480E	probably damaging	Het
Mcm7	T	C	5: 138,167,698 (GRCm39)	H105R	probably damaging	Het
Mpdz	A	G	4: 81,221,870 (GRCm39)	L1464P	probably damaging	Het
Mrgpra9	A	C	7: 46,884,900 (GRCm39)	L256V	probably benign	Het
Mrpl40	T	C	16: 18,691,329 (GRCm39)	Q127R	probably benign	Het
Myom2	G	T	8: 15,163,755 (GRCm39)	R1003L	probably benign	Het
Nav2	A	G	7: 49,225,477 (GRCm39)	T1806A	probably damaging	Het
Or10x4	T	C	1: 174,218,974 (GRCm39)	L113P	probably damaging	Het
Pibf1	A	T	14: 99,425,199 (GRCm39)	Y562F	possibly damaging	Het
Potefam1	A	T	2: 111,044,921 (GRCm39)		probably benign	Het
Ppm1n	A	T	7: 19,012,122 (GRCm39)		probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Septin8	T	A	11: 53,425,855 (GRCm39)	F143I	possibly damaging	Het
Sestd1	A	G	2: 77,029,389 (GRCm39)	Y330H	probably damaging	Het
Sntg1	C	T	1: 8,752,193 (GRCm39)		probably benign	Het
Stpg2	C	A	3: 139,125,623 (GRCm39)	P472Q	probably damaging	Het
Thbs1	A	G	2: 117,945,463 (GRCm39)	K314R	probably benign	Het
Vav3	T	C	3: 109,470,078 (GRCm39)	Y508H	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
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
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

Posted On

2014-01-21