Mutagenetix > Incidental Mutation

Incidental Mutation 'R7422:Arhgef1'

575730

Institutional Source

Beutler Lab

Gene Symbol

Arhgef1

Ensembl Gene

ENSMUSG00000040940

Gene Name

Rho guanine nucleotide exchange factor 1

Synonyms

Lbcl2, Lsc

MMRRC Submission

045500-MU

Accession Numbers

Essential gene?

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

Stock #

R7422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24602337-24626019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24615461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 285 (L285P)

Ref Sequence

ENSEMBL: ENSMUSP00000096280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047873] [ENSMUST00000098683] [ENSMUST00000117419] [ENSMUST00000117796] [ENSMUST00000132751] [ENSMUST00000151121] [ENSMUST00000205295] [ENSMUST00000206011] [ENSMUST00000206508] [ENSMUST00000206906]

AlphaFold

Q61210

Predicted Effect

probably benign
Transcript: ENSMUST00000047873
AA Change: L285P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: L285P

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
AA Change: L285P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: L285P

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
AA Change: L285P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: L285P

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
AA Change: L285P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: L285P

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

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: ENSMUST00000151121

SMART Domains

Protein: ENSMUSP00000114388
Gene: ENSMUSG00000040940

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:RGS-like	40	101	5.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205295

Predicted Effect

probably benign
Transcript: ENSMUST00000206011

Predicted Effect

probably benign
Transcript: ENSMUST00000206508
AA Change: L285P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000206906

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (98/101)

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
2810021J22Rik	T	A	11: 58,771,885 (GRCm39)	C456S	probably damaging	Het
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Adam28	T	G	14: 68,864,326 (GRCm39)	R492S	probably damaging	Het
Adarb2	G	A	13: 8,807,313 (GRCm39)	A705T	possibly damaging	Het
Adprhl1	T	C	8: 13,272,873 (GRCm39)	D1295G	probably benign	Het
Aldh3b3	A	G	19: 4,016,476 (GRCm39)	I365V	probably benign	Het
Aldh8a1	T	C	10: 21,264,996 (GRCm39)	F208L	possibly damaging	Het
Ap3b1	G	A	13: 94,664,673 (GRCm39)	V871I	unknown	Het
Apol7e	A	T	15: 77,598,552 (GRCm39)	R6*	probably null	Het
Arfgap3	T	C	15: 83,191,150 (GRCm39)	E456G	probably damaging	Het
Arhgef7	T	A	8: 11,850,861 (GRCm39)	C315S	probably benign	Het
Atp9a	A	T	2: 168,490,513 (GRCm39)	L829Q	probably damaging	Het
Babam2	T	A	5: 31,888,393 (GRCm39)		probably null	Het
Bptf	C	T	11: 106,951,384 (GRCm39)	R2185H	probably damaging	Het
Brd9	A	C	13: 74,102,697 (GRCm39)	M473L	probably benign	Het
C7	T	C	15: 5,041,538 (GRCm39)	H456R	probably benign	Het
Cabp7	C	A	11: 4,688,856 (GRCm39)	A205S	probably damaging	Het
Catsperb	A	G	12: 101,554,293 (GRCm39)	I662M	probably damaging	Het
Ccl21a	T	C	4: 42,773,906 (GRCm39)	M5V	probably benign	Het
Cdyl	G	T	13: 36,042,177 (GRCm39)	R405L	possibly damaging	Het
Cep89	T	C	7: 35,127,672 (GRCm39)	L538P	probably damaging	Het
Cercam	A	G	2: 29,762,892 (GRCm39)	M209V	possibly damaging	Het
Chfr	T	A	5: 110,310,571 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,717,226 (GRCm39)	Y1269*	probably null	Het
Col6a2	G	T	10: 76,439,170 (GRCm39)	C833*	probably null	Het
Cpeb3	T	A	19: 37,151,900 (GRCm39)	I159F	probably benign	Het
Cplx2	G	A	13: 54,526,663 (GRCm39)	E24K	possibly damaging	Het
Ctsb	A	G	14: 63,379,752 (GRCm39)	T332A	probably benign	Het
Cyp2j12	T	A	4: 96,029,222 (GRCm39)	T20S	probably benign	Het
Dcst2	T	A	3: 89,273,993 (GRCm39)	H181Q	probably damaging	Het
Dnm1l	T	C	16: 16,136,338 (GRCm39)	I411V	probably benign	Het
Dock5	T	A	14: 68,046,479 (GRCm39)	I768F	probably benign	Het
Ecel1	A	G	1: 87,077,334 (GRCm39)	Y625H	probably damaging	Het
Efl1	T	G	7: 82,330,587 (GRCm39)	S253R	probably damaging	Het
Elmod1	T	A	9: 53,820,127 (GRCm39)	D287V	probably damaging	Het
Fam171a2	T	C	11: 102,329,491 (GRCm39)	S423G	probably benign	Het
Fbxo8	A	T	8: 57,022,317 (GRCm39)		probably null	Het
Flnc	G	T	6: 29,455,470 (GRCm39)	G2040W	probably damaging	Het
Fras1	C	T	5: 96,821,458 (GRCm39)	A1405V	probably benign	Het
Frem3	A	C	8: 81,342,392 (GRCm39)	I1562L	probably benign	Het
Fxr1	C	T	3: 34,103,369 (GRCm39)	A233V	probably damaging	Het
H1f9	A	G	11: 94,859,184 (GRCm39)	R160G	possibly damaging	Het
Helb	A	G	10: 119,944,799 (GRCm39)	F246L	probably damaging	Het
Hoxb6	G	T	11: 96,183,510 (GRCm39)		probably benign	Het
Hspa2	A	G	12: 76,452,884 (GRCm39)	E526G	probably damaging	Het
Hyal5	A	T	6: 24,875,983 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,942,224 (GRCm39)	V503E	probably benign	Het
Ints9	C	T	14: 65,269,747 (GRCm39)	T479I	possibly damaging	Het
Jag1	C	T	2: 136,926,975 (GRCm39)	R928H	probably benign	Het
Lman2	A	T	13: 55,499,338 (GRCm39)	I179N	probably damaging	Het
Lta	T	C	17: 35,422,805 (GRCm39)	S173G	probably benign	Het
Mki67	G	A	7: 135,300,099 (GRCm39)	P1645L	probably damaging	Het
Mrc2	A	T	11: 105,183,609 (GRCm39)		probably benign	Het
Muc4	T	A	16: 32,754,689 (GRCm38)	M1521K	probably benign	Het
Mucl3	T	A	17: 35,949,312 (GRCm39)	T96S	probably benign	Het
Mylk3	T	G	8: 86,081,873 (GRCm39)	D438A	probably benign	Het
Myo7a	T	A	7: 97,700,833 (GRCm39)		probably null	Het
Nsmce4a	G	T	7: 130,135,547 (GRCm39)	Q342K	probably benign	Het
Or10ac1	A	G	6: 42,515,053 (GRCm39)	I301T	possibly damaging	Het
Or4c124	T	A	2: 89,156,423 (GRCm39)	I34F	probably benign	Het
Or5p60	A	G	7: 107,724,068 (GRCm39)	L134P	probably damaging	Het
Or6c65	A	T	10: 129,604,136 (GRCm39)	Y257F	possibly damaging	Het
Osbpl6	T	A	2: 76,423,730 (GRCm39)	F864L	probably damaging	Het
Pla2g4a	A	G	1: 149,808,438 (GRCm39)	S2P	probably benign	Het
Plce1	T	C	19: 38,640,329 (GRCm39)	L525P	probably damaging	Het
Por	A	T	5: 135,763,773 (GRCm39)	M667L	probably benign	Het
Psma4	T	C	9: 54,862,166 (GRCm39)	Y97H	probably benign	Het
Qtrt1	A	T	9: 21,323,753 (GRCm39)	H126L	probably benign	Het
Rab3a	A	T	8: 71,209,170 (GRCm39)	Y102F	possibly damaging	Het
Rnf212	T	A	5: 108,879,555 (GRCm39)	H87L	probably benign	Het
Rnf216	A	G	5: 143,076,591 (GRCm39)	S98P	probably benign	Het
Ryr1	G	T	7: 28,785,295 (GRCm39)	R1806S	probably benign	Het
Scgb1b3	A	T	7: 31,075,262 (GRCm39)	L37F	probably benign	Het
Sds	T	C	5: 120,617,254 (GRCm39)	S37P	probably damaging	Het
Senp6	A	G	9: 80,021,159 (GRCm39)	R280G	probably damaging	Het
She	T	A	3: 89,761,864 (GRCm39)	I441K	possibly damaging	Het
Slc6a20b	A	G	9: 123,436,682 (GRCm39)	S244P	possibly damaging	Het
Slc9a3	A	T	13: 74,299,004 (GRCm39)	Y141F	probably damaging	Het
Slco6c1	A	T	1: 97,009,207 (GRCm39)	H426Q	probably benign	Het
Smc2	C	A	4: 52,440,301 (GRCm39)	Q16K	probably benign	Het
Sphkap	A	C	1: 83,241,547 (GRCm39)	V1535G	probably benign	Het
Stard9	C	A	2: 120,532,633 (GRCm39)	N2963K	probably benign	Het
Sycp2	C	T	2: 178,035,944 (GRCm39)	A248T	probably damaging	Het
Taar8a	T	C	10: 23,952,762 (GRCm39)	L122P	probably damaging	Het
Tab1	T	A	15: 80,044,445 (GRCm39)	V491E	probably benign	Het
Tanc1	T	C	2: 59,636,688 (GRCm39)	M857T	probably benign	Het
Tcirg1	C	A	19: 3,949,008 (GRCm39)	R427L	possibly damaging	Het
Tmem109	A	C	19: 10,849,124 (GRCm39)	*244G	probably null	Het
Tox2	A	G	2: 163,163,435 (GRCm39)	Y136C		Het
Tubb1	T	C	2: 174,298,825 (GRCm39)	V169A	possibly damaging	Het
Ubr3	T	C	2: 69,783,886 (GRCm39)		probably null	Het
Vmn1r225	T	A	17: 20,723,059 (GRCm39)	F167I	probably benign	Het
Vmn2r65	A	C	7: 84,595,569 (GRCm39)	W372G	probably damaging	Het
Vps13a	A	T	19: 16,727,537 (GRCm39)	D188E	probably damaging	Het
Vsnl1	G	T	12: 11,376,439 (GRCm39)	Q149K	probably benign	Het
Wdr35	A	G	12: 9,054,105 (GRCm39)	N466S	probably benign	Het
Ywhae	T	A	11: 75,650,169 (GRCm39)	S210R	probably damaging	Het
Zfp28	T	A	7: 6,397,748 (GRCm39)	S728T	probably damaging	Het
Zfpm1	A	G	8: 123,063,698 (GRCm39)	D919G	unknown	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
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
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'- CGCCAGACTGATTTCCAGAGTG -3'
(R):5'- TCAGACTCAGAGCTCCAGAC -3'

Sequencing Primer
(F):5'- GGTTGTACAAGCTTGCAATCC -3'
(R):5'- TCAGACCCAGGGATCCAG -3'

Posted On

2019-10-07