Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00790:Arhgef18'

9034

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 #

IGL00790

Quality Score

Status

Chromosome

Chromosomal Location

3403415-3506601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3479553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 79 (E79G)

Ref Sequence

ENSEMBL: ENSMUSP00000118410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004684] [ENSMUST00000145394]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004684
AA Change: E79G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568
AA Change: E79G

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: ENSMUST00000130587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131773

Predicted Effect

probably damaging
Transcript: ENSMUST00000145394
AA Change: E79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	A	T	17: 66,291,175 (GRCm39)	N1419K	probably benign	Het
Art4	T	A	6: 136,831,493 (GRCm39)	Q216L	probably damaging	Het
Bbs4	T	C	9: 59,231,348 (GRCm39)	D407G	probably benign	Het
Cherp	A	G	8: 73,222,090 (GRCm39)	I277T	probably damaging	Het
Cnot2	A	G	10: 116,342,976 (GRCm39)	M119T	probably benign	Het
Disp2	T	A	2: 118,616,759 (GRCm39)	C73S	probably damaging	Het
Dock4	T	C	12: 40,884,390 (GRCm39)	S1686P	probably damaging	Het
Dsc1	C	T	18: 20,227,953 (GRCm39)	G468S	probably damaging	Het
Duox2	T	A	2: 122,122,781 (GRCm39)	D551V	possibly damaging	Het
Gmip	T	A	8: 70,269,661 (GRCm39)	Y585*	probably null	Het
Gnal	A	G	18: 67,267,360 (GRCm39)		probably null	Het
Idh1	T	G	1: 65,205,281 (GRCm39)	Q228P	possibly damaging	Het
Igsf10	A	T	3: 59,226,938 (GRCm39)	I2245N	probably damaging	Het
Mrgpra4	A	T	7: 47,631,052 (GRCm39)	M183K	possibly damaging	Het
Npr2	T	A	4: 43,641,612 (GRCm39)	V472D	possibly damaging	Het
Pcdh7	A	T	5: 57,878,806 (GRCm39)	N787I	probably damaging	Het
Phf8-ps	A	G	17: 33,286,361 (GRCm39)	V147A	probably damaging	Het
Ppp1r10	A	T	17: 36,235,751 (GRCm39)	N111I	probably damaging	Het
Ppp3ca	A	G	3: 136,640,942 (GRCm39)	N508D	probably benign	Het
Rgs17	A	G	10: 5,862,624 (GRCm38)	Q25P	possibly damaging	Het
Slco6d1	T	A	1: 98,348,925 (GRCm39)		probably benign	Het
Tab3	T	A	X: 84,665,210 (GRCm39)	N591K	probably damaging	Het
Tfcp2	T	C	15: 100,411,059 (GRCm39)		probably benign	Het
Them5	A	T	3: 94,250,716 (GRCm39)	D93V	probably damaging	Het
Thoc5	T	G	11: 4,868,147 (GRCm39)	V275G	probably damaging	Het
Trmt1l	T	C	1: 151,318,463 (GRCm39)		probably null	Het
Zdbf2	G	T	1: 63,345,673 (GRCm39)	V1351F	possibly damaging	Het
Zfp14	G	T	7: 29,738,312 (GRCm39)	Y224*	probably null	Het
Zfp606	T	G	7: 12,228,159 (GRCm39)	M702R	probably damaging	Het

Other mutations in Arhgef18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06