Mutagenetix > Incidental Mutation

Incidental Mutation 'R0277:Arhgef1'

24408

Institutional Source

Beutler Lab

Gene Symbol

Arhgef1

Ensembl Gene

ENSMUSG00000040940

Gene Name

Rho guanine nucleotide exchange factor 1

Synonyms

Lbcl2, Lsc

MMRRC Submission

038499-MU

Accession Numbers

Essential gene?

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

Stock #

R0277 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

24602337-24626019 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 24623224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146932 (fasta)

Gene Model

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

AlphaFold

Q61210

Predicted Effect

probably benign
Transcript: ENSMUST00000047873

SMART Domains

Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940

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 benign
Transcript: ENSMUST00000098683

SMART Domains

Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940

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 benign
Transcript: ENSMUST00000117419

SMART Domains

Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940

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 benign
Transcript: ENSMUST00000117796

SMART Domains

Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940

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

probably benign
Transcript: ENSMUST00000132751

SMART Domains

Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940

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

probably benign
Transcript: ENSMUST00000206508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145783

Predicted Effect

probably benign
Transcript: ENSMUST00000206705

Predicted Effect

probably benign
Transcript: ENSMUST00000205295

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 124,917,815 (GRCm39)	K69R	unknown	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Acad11	T	C	9: 104,001,224 (GRCm39)	M708T	probably damaging	Het
Adam7	T	C	14: 68,748,306 (GRCm39)		probably null	Het
Adgre1	T	A	17: 57,751,060 (GRCm39)	I578N	probably benign	Het
Agbl4	T	C	4: 111,474,419 (GRCm39)	S403P	probably damaging	Het
Ak3	A	G	19: 29,025,192 (GRCm39)	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,481,305 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,223,051 (GRCm39)	N182S	probably benign	Het
Aspscr1	G	A	11: 120,569,246 (GRCm39)	V15I	probably damaging	Het
Asxl2	A	G	12: 3,492,487 (GRCm39)	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,701,323 (GRCm39)	F345S	possibly damaging	Het
Atp8b3	T	C	10: 80,362,743 (GRCm39)	K672E	probably benign	Het
Bltp1	T	A	3: 36,997,331 (GRCm39)	C1129*	probably null	Het
Bmp2k	A	G	5: 97,235,682 (GRCm39)		probably benign	Het
Casp6	T	A	3: 129,704,172 (GRCm39)	V86E	probably benign	Het
Cdca5	A	G	19: 6,140,742 (GRCm39)	E260G	unknown	Het
Cpb2	T	A	14: 75,502,898 (GRCm39)	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046 (GRCm39)	D1823G	probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Erc1	T	C	6: 119,597,289 (GRCm39)	K1003E	probably damaging	Het
Ezr	G	A	17: 7,022,164 (GRCm39)	Q105*	probably null	Het
Fam83d	T	A	2: 158,627,467 (GRCm39)	D385E	probably benign	Het
Fbn2	A	G	18: 58,178,389 (GRCm39)	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,047,605 (GRCm39)	I236N	probably damaging	Het
Fcgbp	G	T	7: 27,784,918 (GRCm39)		probably null	Het
Foxe3	T	C	4: 114,782,805 (GRCm39)	N136D	probably damaging	Het
Fscn2	A	T	11: 120,258,837 (GRCm39)	I461F	probably damaging	Het
Gldc	A	G	19: 30,093,851 (GRCm39)	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619 (GRCm39)	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gnl3	A	C	14: 30,735,384 (GRCm39)		probably null	Het
Gsto1	A	T	19: 47,846,416 (GRCm39)	I88F	probably damaging	Het
Gucy1b1	T	A	3: 81,945,463 (GRCm39)		probably null	Het
Hhla1	C	A	15: 65,820,352 (GRCm39)	V133F	probably benign	Het
Hipk3	T	A	2: 104,271,593 (GRCm39)	L446F	probably damaging	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hsd17b6	T	C	10: 127,827,274 (GRCm39)	D266G	probably benign	Het
Ipo4	T	C	14: 55,869,572 (GRCm39)	S363G	probably benign	Het
Kcnip3	A	G	2: 127,301,899 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,501,640 (GRCm39)	Y367C	probably damaging	Het
Klk1b4	C	G	7: 43,861,053 (GRCm39)	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Mark1	A	G	1: 184,677,149 (GRCm39)	S34P	possibly damaging	Het
Megf11	G	A	9: 64,598,632 (GRCm39)		probably null	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Myo18b	A	G	5: 112,841,213 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,808,596 (GRCm39)		probably benign	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,776,855 (GRCm39)		probably benign	Het
Nfe2l3	T	A	6: 51,434,448 (GRCm39)	M336K	probably benign	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Nsun3	A	T	16: 62,597,007 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,315 (GRCm39)	E591G	probably benign	Het
Or10g1b	T	C	14: 52,627,846 (GRCm39)	Y128C	probably damaging	Het
Or10s1	G	A	9: 39,986,010 (GRCm39)	V140I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or4k2	T	C	14: 50,423,789 (GRCm39)	N296S	probably null	Het
Or6c70	T	A	10: 129,709,936 (GRCm39)	Q230L	probably damaging	Het
Or6d15	A	T	6: 116,559,562 (GRCm39)	V115E	probably damaging	Het
Or6z6	T	A	7: 6,491,433 (GRCm39)	M147L	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,887,208 (GRCm39)		probably benign	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620 (GRCm39)	P100Q	probably damaging	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,345,762 (GRCm39)	D2755E	probably benign	Het
Prune2	A	T	19: 17,098,753 (GRCm39)	D1419V	probably damaging	Het
Pth2r	A	C	1: 65,427,775 (GRCm39)	I483L	probably benign	Het
Qrsl1	A	G	10: 43,772,003 (GRCm39)		probably null	Het
Rab11fip4	A	G	11: 79,577,455 (GRCm39)	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,437,813 (GRCm39)		probably benign	Het
Rsbn1	T	C	3: 103,821,897 (GRCm39)	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,817,272 (GRCm39)	M1K	probably null	Het
Sf3b1	T	C	1: 55,058,416 (GRCm39)	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,033,978 (GRCm39)	M777K	probably benign	Het
Sipa1	A	T	19: 5,704,093 (GRCm39)	M743K	probably benign	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slco6b1	A	T	1: 96,916,398 (GRCm39)		noncoding transcript	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Sort1	T	C	3: 108,231,908 (GRCm39)		probably benign	Het
Spg21	A	T	9: 65,372,629 (GRCm39)	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,795,173 (GRCm39)	I1544F	probably benign	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,712,715 (GRCm39)		probably benign	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Sv2b	A	T	7: 74,856,187 (GRCm39)	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,711,856 (GRCm39)	S255P	probably damaging	Het
Tbx15	C	T	3: 99,259,707 (GRCm39)	P526L	probably damaging	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,948,384 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,109 (GRCm39)		probably benign	Het
Thsd7b	A	G	1: 130,123,000 (GRCm39)	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,636,771 (GRCm39)		probably null	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Wdfy4	T	C	14: 32,805,742 (GRCm39)	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,235,225 (GRCm39)	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfp455	G	T	13: 67,346,728 (GRCm39)		probably null	Het
Zmpste24	A	G	4: 120,940,050 (GRCm39)	Y199H	probably damaging	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
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
R4914:Arhgef1	UTSW	7	24,623,264 (GRCm39)	missense	probably damaging	1.00
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'- TTCCTGCCTCAGAACCTGGACATC -3'
(R):5'- TCTGCCTCATTAGGACCCTTCCAAG -3'

Sequencing Primer
(F):5'- CATCACTAAGAAGAAGTTGGTCC -3'
(R):5'- TGTTCCTCCCCAGAGTGAG -3'

Posted On

2013-04-16