Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Arhgef1'

489258

Institutional Source

Beutler Lab

Gene Symbol

Arhgef1

Ensembl Gene

ENSMUSG00000040940

Gene Name

Rho guanine nucleotide exchange factor 1

Synonyms

Lbcl2, Lsc

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

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

Stock #

R6151 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

24602337-24626019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24617367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 354 (T354A)

Ref Sequence

ENSEMBL: ENSMUSP00000113771 (fasta)

Gene Model

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

AlphaFold

Q61210

Predicted Effect

probably benign
Transcript: ENSMUST00000047873
AA Change: T354A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: T354A

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: T353A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: T353A

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: T354A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: T354A

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: T354A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: T354A

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: ENSMUST00000129928

Predicted Effect

silent
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

noncoding transcript
Transcript: ENSMUST00000144714

Predicted Effect

probably benign
Transcript: ENSMUST00000206508
AA Change: T353A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145783

Predicted Effect

probably benign
Transcript: ENSMUST00000205295

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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
3110009E18Rik	A	G	1: 120,099,216 (GRCm39)		probably null	Het
4930550C14Rik	G	T	9: 53,325,683 (GRCm39)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm39)	V517A	probably benign	Het
Adck5	A	T	15: 76,478,887 (GRCm39)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,072,575 (GRCm39)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,223,459 (GRCm39)	R51*	probably null	Het
Arhgap23	A	G	11: 97,391,238 (GRCm39)	M1252V	probably benign	Het
Arid1a	G	T	4: 133,412,287 (GRCm39)	Q1636K	unknown	Het
Asmt	C	T	X: 169,110,202 (GRCm39)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,691,716 (GRCm39)	C43S	probably benign	Het
Cd36	T	C	5: 18,000,593 (GRCm39)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 17,803,030 (GRCm39)	L145F	probably benign	Het
Col24a1	C	T	3: 145,019,815 (GRCm39)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,741,475 (GRCm39)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,180,756 (GRCm39)	L140P	probably damaging	Het
Dhrs13	G	A	11: 77,927,808 (GRCm39)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,986,406 (GRCm39)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,110,145 (GRCm39)	F20C	probably damaging	Het
Enpep	T	C	3: 129,126,067 (GRCm39)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,045,791 (GRCm39)		probably null	Het
Eprs1	G	T	1: 185,139,951 (GRCm39)		probably null	Het
Etl4	T	A	2: 20,718,171 (GRCm39)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,225,670 (GRCm39)	S89*	probably null	Het
F5	G	A	1: 164,017,756 (GRCm39)	C611Y	probably damaging	Het
F5	A	T	1: 164,009,204 (GRCm39)	I325F	probably damaging	Het
Fam133b	A	T	5: 3,609,133 (GRCm39)	S116C	probably null	Het
Fam13b	A	T	18: 34,627,330 (GRCm39)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,230,138 (GRCm39)	Y58D	probably damaging	Het
Far1	G	A	7: 113,160,603 (GRCm39)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,364,579 (GRCm39)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,480,468 (GRCm39)	Q469K	unknown	Het
Frs3	A	T	17: 48,000,013 (GRCm39)		probably benign	Het
Gdpd3	A	G	7: 126,374,674 (GRCm39)	S290G	probably benign	Het
Gmip	T	A	8: 70,269,735 (GRCm39)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,754,851 (GRCm39)	I176N	probably damaging	Het
Grm3	A	G	5: 9,561,556 (GRCm39)	F765L	probably damaging	Het
Hhat	A	T	1: 192,442,065 (GRCm39)	L2Q	probably damaging	Het
Hspbap1	T	C	16: 35,637,592 (GRCm39)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,424,909 (GRCm39)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,096,527 (GRCm39)	K50*	probably null	Het
Kidins220	T	C	12: 25,106,908 (GRCm39)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,655,198 (GRCm39)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,501,129 (GRCm39)	D806V	probably benign	Het
Krt26	T	C	11: 99,228,315 (GRCm39)	E139G	probably benign	Het
Lefty1	T	C	1: 180,762,681 (GRCm39)	F3L	unknown	Het
Madd	A	C	2: 90,995,802 (GRCm39)	Y853*	probably null	Het
Map1a	T	A	2: 121,120,304 (GRCm39)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm39)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,532,477 (GRCm39)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,504,859 (GRCm39)		probably null	Het
Mpp3	C	A	11: 101,899,392 (GRCm39)	R376S	probably benign	Het
Ncoa4-ps	T	G	12: 119,224,841 (GRCm39)		noncoding transcript	Het
Nup160	T	A	2: 90,520,449 (GRCm39)	Y293*	probably null	Het
Nup58	A	T	14: 60,482,065 (GRCm39)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,237,491 (GRCm39)	L255V	probably benign	Het
Or10ab4	A	G	7: 107,655,106 (GRCm39)	I306V	probably benign	Het
Or1e30	T	A	11: 73,678,521 (GRCm39)	Y252*	probably null	Het
Or2l5	A	T	16: 19,334,281 (GRCm39)	L35Q	probably damaging	Het
Or4d11	T	C	19: 12,014,100 (GRCm39)	E2G	probably benign	Het
Padi3	A	T	4: 140,523,705 (GRCm39)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,966,616 (GRCm39)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,458,748 (GRCm39)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,794,580 (GRCm39)	H2089R	probably benign	Het
Plaat5	C	T	19: 7,596,656 (GRCm39)	P148S	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,776,160 (GRCm39)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm39)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,301,476 (GRCm39)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,118,327 (GRCm39)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,283,649 (GRCm39)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,339,770 (GRCm39)	V58I	possibly damaging	Het
Slfn8	T	A	11: 82,908,147 (GRCm39)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,047,033 (GRCm39)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,431,021 (GRCm39)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 126,807,168 (GRCm39)	T123M	probably damaging	Het
Tenm2	A	C	11: 35,899,610 (GRCm39)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,848,608 (GRCm39)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,674,661 (GRCm39)	M355L	probably benign	Het
Tns4	C	T	11: 98,966,376 (GRCm39)	S433N	probably benign	Het
Traip	G	T	9: 107,847,818 (GRCm39)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm39)	R2C	probably damaging	Het
Ttn	A	T	2: 76,774,504 (GRCm39)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm39)	D380G	probably benign	Het
Ube2t	T	A	1: 134,895,698 (GRCm39)		probably null	Het
Ugdh	A	T	5: 65,574,924 (GRCm39)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,095,841 (GRCm39)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,360 (GRCm39)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,450,878 (GRCm39)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,804,221 (GRCm39)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,891,897 (GRCm39)		probably null	Het
Vwf	A	G	6: 125,634,028 (GRCm39)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,662,911 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,405,662 (GRCm39)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,819,910 (GRCm39)	V1051A	probably benign	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	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
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
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'- GGTCTGACCGAGTTTCTGTCC -3'
(R):5'- TCCGGCAGCAGAGATGACTG -3'

Sequencing Primer
(F):5'- CTCACACTGAATACTGCATGAGTAGG -3'
(R):5'- GGGACAGGCGGGTGCAG -3'

Posted On

2017-10-10