Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Arhgef18'

229900

Institutional Source

Beutler Lab

Gene Symbol

Arhgef18

Ensembl Gene

ENSMUSG00000004568

Gene Name

rho/rac guanine nucleotide exchange factor (GEF) 18

Synonyms

D030053O22Rik

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3393006-3456601 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3451939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 699 (N699S)

Ref Sequence

ENSEMBL: ENSMUSP00000004684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004684
AA Change: N699S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568
AA Change: N699S

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 60,039,645	T255A	possibly damaging	Het
Acat3	C	T	17: 12,927,407	A230T	probably benign	Het
Acsl1	C	A	8: 46,533,626	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,512,536	I316N	probably damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
AI429214	T	A	8: 36,994,208	V170E	probably benign	Het
Akap13	G	A	7: 75,725,304	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,350,368	Q190*	probably null	Het
Aox3	C	A	1: 58,158,216	Q574K	probably benign	Het
Apeh	A	G	9: 108,085,667	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,737,485	I151T	probably benign	Het
Arhgap28	A	G	17: 67,869,015	V363A	possibly damaging	Het
Asnsd1	A	G	1: 53,347,317	S384P	probably benign	Het
Atl1	G	T	12: 69,931,657		probably null	Het
Atp13a2	A	T	4: 140,995,391	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,333,214	N164K	probably benign	Het
Bnipl	T	A	3: 95,245,683	I162F	probably damaging	Het
Cacna1d	A	T	14: 30,123,163	L655I	probably damaging	Het
Canx	T	C	11: 50,304,358	I294M	probably damaging	Het
Casz1	T	C	4: 148,946,064	F1180S	probably damaging	Het
Cav3	T	C	6: 112,472,383	Y121H	probably benign	Het
Cd4	A	C	6: 124,870,536	S222A	probably benign	Het
Cds1	T	C	5: 101,812,550	I289T	probably benign	Het
Cep112	T	C	11: 108,508,258	F328L	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap44	A	T	16: 44,410,475	D273V	probably benign	Het
Clec7a	C	T	6: 129,470,955	G49D	probably benign	Het
Col22a1	G	A	15: 71,857,253	Q599*	probably null	Het
Col6a5	T	A	9: 105,945,600	H186L	unknown	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,724,458	R725*	probably null	Het
Dnajc10	G	A	2: 80,350,734		probably null	Het
Edem3	A	T	1: 151,794,731	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,422,123	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,848,771	V365I	probably damaging	Het
Fam129a	A	C	1: 151,696,135	E277A	probably damaging	Het
Fam129a	A	G	1: 151,709,133	I494V	possibly damaging	Het
Fan1	T	C	7: 64,346,888	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,599,248	V44M	probably benign	Het
Gaa	G	A	11: 119,270,282	W50*	probably null	Het
Gm10032	T	C	14: 66,792,778		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,845,249		probably null	Het
Gprc5b	G	T	7: 118,984,175	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,858,534	Q394*	probably null	Het
Gucd1	A	G	10: 75,512,088	S38P	probably damaging	Het
Higd1a	A	T	9: 121,850,247	I58N	probably damaging	Het
Hmx3	G	C	7: 131,544,549	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,824,438	R337*	probably null	Het
Idua	T	A	5: 108,681,438	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,623,467	V218A	probably benign	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,187,640	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,358,777		probably null	Het
Lasp1	T	A	11: 97,836,134	D227E	probably benign	Het
Lhx6	A	G	2: 36,091,324	I85T	possibly damaging	Het
Limch1	A	G	5: 67,029,760	D840G	probably damaging	Het
Loxl4	C	G	19: 42,603,963	E385D	probably damaging	Het
Lrrtm4	A	T	6: 80,021,739	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,785,709		probably null	Het
Lyg1	T	C	1: 37,950,674	Y44C	probably damaging	Het
Maats1	T	C	16: 38,341,762	T6A	probably benign	Het
Map1a	A	G	2: 121,298,641	I129V	probably damaging	Het
Med27	C	T	2: 29,524,430	Q150*	probably null	Het
Ms4a5	A	T	19: 11,279,368	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,810,742	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,651,440		probably null	Het
Myo3a	A	G	2: 22,578,174	D480G	probably benign	Het
Neb	T	C	2: 52,310,638	Y343C	probably damaging	Het
Nrn1	A	C	13: 36,730,206	V34G	probably damaging	Het
Olfr1090	A	T	2: 86,754,452	N95K	probably benign	Het
Olfr1099	T	C	2: 86,959,098	Y120C	possibly damaging	Het
Olfr1302	A	G	2: 111,780,496	M59V	probably damaging	Het
Olfr679	A	G	7: 105,086,615	T300A	probably damaging	Het
Olfr690	C	T	7: 105,329,252	W313*	probably null	Het
Olfr722	A	G	14: 49,895,067	I245T	probably benign	Het
Olfr887	G	T	9: 38,085,276	V147L	probably benign	Het
Pdia4	A	T	6: 47,796,837	V526E	probably damaging	Het
Pdia6	T	C	12: 17,278,545	V167A	probably damaging	Het
Pgk2	A	G	17: 40,207,509	F343L	probably damaging	Het
Piwil1	T	C	5: 128,754,096	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169	Y341N	possibly damaging	Het
Plch2	T	C	4: 154,998,999	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355	M692K	probably benign	Het
Rassf8	G	A	6: 145,815,182	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	A	G	11: 119,450,201	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,768,788		probably null	Het
Rpe	T	G	1: 66,715,980	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,560,295	D36G	probably damaging	Het
Scn2a	T	A	2: 65,752,079	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,222,759	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,295,934	M17L	probably benign	Het
Slit3	T	C	11: 35,688,679	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,662,744	T193M	probably benign	Het
Smtn	T	A	11: 3,530,045	H392L	probably benign	Het
St8sia3	A	G	18: 64,269,674	D128G	probably damaging	Het
Sucla2	A	T	14: 73,592,668	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,836,923	T4A	probably benign	Het
Tdrd5	T	C	1: 156,276,573	R528G	probably damaging	Het
Tex44	T	C	1: 86,427,089	L240P	probably benign	Het
Tns4	A	T	11: 99,080,078		probably null	Het
Trappc10	A	T	10: 78,203,924	V731E	possibly damaging	Het
Ttf1	A	G	2: 29,071,345	K582E	probably damaging	Het
Ttf2	C	A	3: 100,948,193	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,147,532	E402G	probably damaging	Het
Ttn	A	T	2: 76,890,092		probably null	Het
Ugt8a	T	C	3: 125,875,546	D303G	probably damaging	Het
Ulk1	G	T	5: 110,792,436	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,158,192	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,316,074	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,413,807	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,186,975	F78S	probably damaging	Het
Zfp454	A	C	11: 50,873,995	S203R	probably benign	Het
Zfp616	C	A	11: 74,085,403	Q833K	probably benign	Het
Znhit2	A	G	19: 6,062,061	T279A	probably benign	Het
Zswim3	T	A	2: 164,819,993	I131N	probably benign	Het

Other mutations in Arhgef18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Arhgef18	APN	8	3429553	missense	probably damaging	1.00
IGL01649:Arhgef18	APN	8	3441211	splice site	probably benign
IGL01736:Arhgef18	APN	8	3451624	splice site	probably benign
IGL02206:Arhgef18	APN	8	3445034	missense	probably benign	0.00
IGL02401:Arhgef18	APN	8	3437078	missense	probably damaging	1.00
IGL02938:Arhgef18	APN	8	3450802	missense	probably benign	0.02
IGL02943:Arhgef18	APN	8	3448553	missense	probably damaging	0.99
IGL02990:Arhgef18	APN	8	3444904	missense	probably benign	0.02
IGL03162:Arhgef18	APN	8	3441301	splice site	probably null
R1622:Arhgef18	UTSW	8	3441272	missense	possibly damaging	0.46
R1681:Arhgef18	UTSW	8	3439645	missense	probably damaging	1.00
R1726:Arhgef18	UTSW	8	3454228	missense	possibly damaging	0.46
R2161:Arhgef18	UTSW	8	3439575	nonsense	probably null
R2878:Arhgef18	UTSW	8	3432759	missense	probably benign
R3916:Arhgef18	UTSW	8	3454197	missense	probably benign
R4231:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4233:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4234:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4235:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4236:Arhgef18	UTSW	8	3450317	missense	possibly damaging	0.80
R4450:Arhgef18	UTSW	8	3437097	missense	probably damaging	0.97
R4539:Arhgef18	UTSW	8	3447070	missense	probably benign
R4670:Arhgef18	UTSW	8	3434897	missense	probably damaging	1.00
R4753:Arhgef18	UTSW	8	3444938	missense	probably damaging	1.00
R4897:Arhgef18	UTSW	8	3444979	missense	probably benign
R5313:Arhgef18	UTSW	8	3451629	critical splice acceptor site	probably null
R5698:Arhgef18	UTSW	8	3439499	missense	probably damaging	0.99
R5781:Arhgef18	UTSW	8	3439439	splice site	probably null
R5851:Arhgef18	UTSW	8	3434980	missense	probably damaging	1.00
R5897:Arhgef18	UTSW	8	3439682	missense	probably damaging	1.00
R5908:Arhgef18	UTSW	8	3453165	missense	probably damaging	1.00
R6123:Arhgef18	UTSW	8	3437091	missense	probably damaging	0.99
R6136:Arhgef18	UTSW	8	3454507	missense	probably benign
R6240:Arhgef18	UTSW	8	3439658	missense	probably damaging	1.00
R6617:Arhgef18	UTSW	8	3439592	missense	probably damaging	1.00
R7575:Arhgef18	UTSW	8	3451635	missense	probably damaging	0.99
R7851:Arhgef18	UTSW	8	3448409	missense	possibly damaging	0.46
R7947:Arhgef18	UTSW	8	3432775	missense	probably damaging	1.00
R8030:Arhgef18	UTSW	8	3439600	missense	probably damaging	1.00
R8848:Arhgef18	UTSW	8	3427481	missense	probably benign	0.00
R9038:Arhgef18	UTSW	8	3453257	missense	probably benign	0.30
R9131:Arhgef18	UTSW	8	3437007	missense	possibly damaging	0.77
R9229:Arhgef18	UTSW	8	3429314	missense	probably benign	0.01
R9599:Arhgef18	UTSW	8	3432718	missense	possibly damaging	0.74
R9794:Arhgef18	UTSW	8	3451634	missense	probably benign	0.03
X0021:Arhgef18	UTSW	8	3434942	missense	probably damaging	1.00
Z1088:Arhgef18	UTSW	8	3439628	missense	probably damaging	1.00
Z1176:Arhgef18	UTSW	8	3453224	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGACTCTCATCAGACCC -3'
(R):5'- TGTTTCTTGAACCTGCGCAG -3'

Sequencing Primer
(F):5'- TCTCATCAGACCCACCCCG -3'
(R):5'- GCTCCAGGTCATGCTGGTAG -3'

Posted On

2014-09-17