Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Arhgef1'

379812

Institutional Source

Beutler Lab

Gene Symbol

Arhgef1

Ensembl Gene

ENSMUSG00000040940

Gene Name

Rho guanine nucleotide exchange factor 1

Synonyms

Lbcl2, Lsc

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.389) question?

Stock #

R4914 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

24602337-24626019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24623264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 436 (L436Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047873] [ENSMUST00000098683] [ENSMUST00000117419] [ENSMUST00000117796] [ENSMUST00000132751] [ENSMUST00000206508] [ENSMUST00000205295] [ENSMUST00000206705]

AlphaFold

Q61210

Predicted Effect

probably damaging
Transcript: ENSMUST00000047873
AA Change: L676Q

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

SMART Domains

Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: L676Q

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:RGS-like	40	230	1.3e-72	PFAM
low complexity region	380	400	N/A	INTRINSIC
RhoGEF	419	603	1.87e-63	SMART
PH	647	761	4.68e-5	SMART
low complexity region	845	864	N/A	INTRINSIC
coiled coil region	867	890	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098683
AA Change: L735Q

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

SMART Domains

Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: L735Q

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:RGS-like	40	230	2.2e-78	PFAM
PDB:3ODW\|B	238	384	2e-57	PDB
low complexity region	396	412	N/A	INTRINSIC
low complexity region	439	459	N/A	INTRINSIC
RhoGEF	478	662	1.87e-63	SMART
PH	706	820	4.68e-5	SMART
low complexity region	904	923	N/A	INTRINSIC
coiled coil region	926	949	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117419
AA Change: L676Q

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

SMART Domains

Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: L676Q

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:RGS-like	40	230	1.3e-72	PFAM
low complexity region	380	400	N/A	INTRINSIC
RhoGEF	419	603	1.87e-63	SMART
PH	647	761	4.68e-5	SMART
low complexity region	845	864	N/A	INTRINSIC
coiled coil region	867	890	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117796
AA Change: L732Q

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

SMART Domains

Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: L732Q

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:RGS-like	40	230	7.3e-73	PFAM
low complexity region	393	409	N/A	INTRINSIC
low complexity region	436	456	N/A	INTRINSIC
RhoGEF	475	659	1.87e-63	SMART
PH	703	817	4.68e-5	SMART
low complexity region	901	920	N/A	INTRINSIC
coiled coil region	923	946	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132786

Predicted Effect

probably damaging
Transcript: ENSMUST00000132751
AA Change: L436Q

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

SMART Domains

Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940
AA Change: L436Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	70	89	N/A	INTRINSIC
low complexity region	97	113	N/A	INTRINSIC
low complexity region	140	160	N/A	INTRINSIC
RhoGEF	179	363	1.87e-63	SMART
PH	407	521	4.68e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206508
AA Change: L675Q

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145783

Predicted Effect

probably benign
Transcript: ENSMUST00000205295

Predicted Effect

probably benign
Transcript: ENSMUST00000206705

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired humeral immunity, reduced numbers of marginal zone B (MZB) cells, decreased basal T cell proliferation, and reduced basal motility of lymphocytes but enhanced migration of MZB cells after serum activation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,870,423 (GRCm39)	V281M	probably damaging	Het
Ap1b1	C	T	11: 4,974,400 (GRCm39)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Atxn2	T	A	5: 121,887,159 (GRCm39)	D276E	probably damaging	Het
AU040320	A	T	4: 126,729,469 (GRCm39)	K544*	probably null	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,192,844 (GRCm39)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cabs1	T	C	5: 88,128,296 (GRCm39)	Y316H	probably damaging	Het
Carmil2	A	G	8: 106,420,175 (GRCm39)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,036,083 (GRCm39)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cemip2	G	A	19: 21,786,653 (GRCm39)	V472I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnai3	A	G	3: 145,772,582 (GRCm39)	I488T	probably damaging	Het
Dpp4	A	T	2: 62,178,236 (GRCm39)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 21,990,197 (GRCm39)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,462,820 (GRCm39)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Emc1	C	T	4: 139,102,476 (GRCm39)	R924*	probably null	Het
Etaa1	A	T	11: 17,896,532 (GRCm39)	S528R	probably benign	Het
Exoc2	A	T	13: 31,060,796 (GRCm39)	N569K	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,267,245 (GRCm39)	V329I	probably benign	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,748,760 (GRCm39)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,581,513 (GRCm39)	T189A	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,967,672 (GRCm39)	Y482*	probably null	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gper1	A	G	5: 139,412,623 (GRCm39)	I323V	probably benign	Het
Grm5	C	A	7: 87,779,337 (GRCm39)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,369,503 (GRCm39)	T85A	probably benign	Het
Hgsnat	A	G	8: 26,454,866 (GRCm39)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,787,884 (GRCm39)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,054,750 (GRCm39)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,599,681 (GRCm39)	E471G	probably damaging	Het
Lalba	T	A	15: 98,380,061 (GRCm39)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,557,483 (GRCm39)	L163*	probably null	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mpzl2	T	A	9: 44,955,146 (GRCm39)	D114E	probably benign	Het
Myef2	T	A	2: 124,951,659 (GRCm39)	K259*	probably null	Het
Myh8	C	A	11: 67,183,510 (GRCm39)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,863,367 (GRCm39)		probably null	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or2h2	T	C	17: 37,396,883 (GRCm39)	Y58C	probably damaging	Het
Or2w1b	A	T	13: 21,300,567 (GRCm39)	Q235L	probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Orc1	T	C	4: 108,461,755 (GRCm39)	F584S	probably damaging	Het
Osgin1	C	A	8: 120,169,283 (GRCm39)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,622,644 (GRCm39)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,287,439 (GRCm39)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,446,265 (GRCm39)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,327,395 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,163,425 (GRCm39)	S1082G	probably benign	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,487,248 (GRCm39)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,877,613 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slain2	T	A	5: 73,115,609 (GRCm39)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,018,395 (GRCm39)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Smg8	T	C	11: 86,971,536 (GRCm39)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,196,321 (GRCm39)	I322L	probably benign	Het
Snx13	G	A	12: 35,182,032 (GRCm39)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Srprb	C	A	9: 103,079,147 (GRCm39)	V747L	possibly damaging	Het
Stam	A	G	2: 14,107,227 (GRCm39)	E16G	probably damaging	Het
Taar5	A	T	10: 23,847,468 (GRCm39)	I289F	possibly damaging	Het
Tgif1	C	T	17: 71,152,242 (GRCm39)	R70H	probably damaging	Het
Top2a	A	T	11: 98,893,786 (GRCm39)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,303,283 (GRCm39)	I232F	probably damaging	Het
Ttn	T	C	2: 76,577,175 (GRCm39)	T24573A	probably damaging	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ube2n	T	A	10: 95,377,607 (GRCm39)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,106,357 (GRCm39)	K445M	probably null	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Zfp1007	A	G	5: 109,826,396 (GRCm39)	S59P	probably damaging	Het
Zfp157	T	C	5: 138,454,557 (GRCm39)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,275,567 (GRCm39)	C228*	probably null	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Arhgef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Arhgef1	APN	7	24,607,784 (GRCm39)	missense	possibly damaging	0.93
IGL00901:Arhgef1	APN	7	24,612,118 (GRCm39)	missense	probably damaging	1.00
IGL01139:Arhgef1	APN	7	24,625,376 (GRCm39)	unclassified	probably benign
IGL01479:Arhgef1	APN	7	24,612,028 (GRCm39)	missense	probably benign	0.01
IGL01935:Arhgef1	APN	7	24,621,307 (GRCm39)	missense	probably damaging	1.00
IGL01944:Arhgef1	APN	7	24,625,208 (GRCm39)	critical splice acceptor site	probably null
IGL02032:Arhgef1	APN	7	24,622,796 (GRCm39)	missense	probably benign	0.23
IGL02059:Arhgef1	APN	7	24,611,977 (GRCm39)	splice site	probably benign
IGL02202:Arhgef1	APN	7	24,612,854 (GRCm39)	nonsense	probably null
IGL02324:Arhgef1	APN	7	24,623,240 (GRCm39)	missense	probably damaging	1.00
IGL02328:Arhgef1	APN	7	24,623,240 (GRCm39)	missense	probably damaging	1.00
IGL03027:Arhgef1	APN	7	24,623,157 (GRCm39)	missense	probably damaging	0.98
IGL03227:Arhgef1	APN	7	24,622,276 (GRCm39)	missense	probably damaging	1.00
IGL03404:Arhgef1	APN	7	24,616,268 (GRCm39)	missense	probably benign	0.07
BB009:Arhgef1	UTSW	7	24,619,135 (GRCm39)	missense	probably damaging	1.00
BB019:Arhgef1	UTSW	7	24,619,135 (GRCm39)	missense	probably damaging	1.00
R0082:Arhgef1	UTSW	7	24,612,030 (GRCm39)	nonsense	probably null
R0277:Arhgef1	UTSW	7	24,623,224 (GRCm39)	unclassified	probably benign
R0336:Arhgef1	UTSW	7	24,621,382 (GRCm39)	missense	possibly damaging	0.77
R0494:Arhgef1	UTSW	7	24,618,785 (GRCm39)	intron	probably benign
R0668:Arhgef1	UTSW	7	24,607,345 (GRCm39)	missense	possibly damaging	0.63
R1520:Arhgef1	UTSW	7	24,619,129 (GRCm39)	missense	probably damaging	1.00
R1531:Arhgef1	UTSW	7	24,624,423 (GRCm39)	missense	probably damaging	0.99
R1656:Arhgef1	UTSW	7	24,613,057 (GRCm39)	missense	probably damaging	1.00
R2979:Arhgef1	UTSW	7	24,607,176 (GRCm39)	missense	unknown
R3855:Arhgef1	UTSW	7	24,618,697 (GRCm39)	missense	probably damaging	1.00
R3856:Arhgef1	UTSW	7	24,618,697 (GRCm39)	missense	probably damaging	1.00
R4080:Arhgef1	UTSW	7	24,625,271 (GRCm39)	missense	probably damaging	0.96
R4081:Arhgef1	UTSW	7	24,625,271 (GRCm39)	missense	probably damaging	0.96
R4583:Arhgef1	UTSW	7	24,611,996 (GRCm39)	missense	probably benign	0.09
R4750:Arhgef1	UTSW	7	24,618,001 (GRCm39)	intron	probably benign
R5255:Arhgef1	UTSW	7	24,624,447 (GRCm39)	missense	probably damaging	1.00
R5275:Arhgef1	UTSW	7	24,618,777 (GRCm39)	critical splice donor site	probably null
R5295:Arhgef1	UTSW	7	24,618,777 (GRCm39)	critical splice donor site	probably null
R5430:Arhgef1	UTSW	7	24,611,732 (GRCm39)	splice site	probably null
R5604:Arhgef1	UTSW	7	24,612,210 (GRCm39)	missense	probably benign	0.09
R6150:Arhgef1	UTSW	7	24,618,782 (GRCm39)	splice site	probably null
R6151:Arhgef1	UTSW	7	24,617,367 (GRCm39)	missense	probably benign	0.00
R6788:Arhgef1	UTSW	7	24,619,205 (GRCm39)	splice site	probably null
R6943:Arhgef1	UTSW	7	24,623,156 (GRCm39)	missense	probably benign	0.01
R6988:Arhgef1	UTSW	7	24,616,348 (GRCm39)	missense	probably benign	0.04
R7422:Arhgef1	UTSW	7	24,615,461 (GRCm39)	missense	probably benign	0.00
R7701:Arhgef1	UTSW	7	24,612,003 (GRCm39)	missense	probably benign	0.01
R7706:Arhgef1	UTSW	7	24,616,306 (GRCm39)	missense	probably damaging	1.00
R7707:Arhgef1	UTSW	7	24,616,306 (GRCm39)	missense	probably damaging	1.00
R7708:Arhgef1	UTSW	7	24,616,306 (GRCm39)	missense	probably damaging	1.00
R7932:Arhgef1	UTSW	7	24,619,135 (GRCm39)	missense	probably damaging	1.00
R7967:Arhgef1	UTSW	7	24,616,306 (GRCm39)	missense	probably damaging	1.00
R7970:Arhgef1	UTSW	7	24,616,306 (GRCm39)	missense	probably damaging	1.00
R7995:Arhgef1	UTSW	7	24,618,641 (GRCm39)	missense	probably damaging	0.99
R8029:Arhgef1	UTSW	7	24,619,163 (GRCm39)	missense	probably damaging	1.00
R8132:Arhgef1	UTSW	7	24,619,174 (GRCm39)	nonsense	probably null
R8132:Arhgef1	UTSW	7	24,607,087 (GRCm39)	intron	probably benign
R8168:Arhgef1	UTSW	7	24,624,831 (GRCm39)	missense	probably benign	0.06
R8964:Arhgef1	UTSW	7	24,622,462 (GRCm39)	missense	probably damaging	1.00
R9114:Arhgef1	UTSW	7	24,607,304 (GRCm39)	missense	probably damaging	1.00
R9553:Arhgef1	UTSW	7	24,619,115 (GRCm39)	missense	probably damaging	1.00
R9676:Arhgef1	UTSW	7	24,625,501 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTGATCATGGCTCCTTCC -3'
(R):5'- TAGAGAGTTCCACTCCCCATGC -3'

Sequencing Primer
(F):5'- TGCCTCAGAACCTGGACATC -3'
(R):5'- CCATAGGACAAGTGCGCTCAG -3'

Posted On

2016-04-15