Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Arhgef7'

191288

Institutional Source

Beutler Lab

Gene Symbol

Arhgef7

Ensembl Gene

ENSMUSG00000031511

Gene Name

Rho guanine nucleotide exchange factor

Synonyms

betaPix-c, betaPix, Pak interacting exchange factor, p85SPR, betaPix-b, cool-1, Cool, PIX

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1719 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11778053-11885219 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 11858713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000074856] [ENSMUST00000098938] [ENSMUST00000098938] [ENSMUST00000110904] [ENSMUST00000110904] [ENSMUST00000110909] [ENSMUST00000210012]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000033908

SMART Domains

Protein: ENSMUSP00000033908
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
CH	3	107	7.28e-13	SMART
SH3	166	221	9.97e-26	SMART
RhoGEF	254	429	8.36e-43	SMART
PH	459	559	3.77e-9	SMART
low complexity region	600	614	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	660	672	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000074856

SMART Domains

Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	443	457	N/A	INTRINSIC
low complexity region	473	490	N/A	INTRINSIC
low complexity region	503	515	N/A	INTRINSIC
PDB:3L4F\|C	587	646	2e-32	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000074856

SMART Domains

Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	443	457	N/A	INTRINSIC
low complexity region	473	490	N/A	INTRINSIC
low complexity region	503	515	N/A	INTRINSIC
PDB:3L4F\|C	587	646	2e-32	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000098938

SMART Domains

Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	443	457	N/A	INTRINSIC
low complexity region	473	490	N/A	INTRINSIC
low complexity region	503	515	N/A	INTRINSIC
low complexity region	569	600	N/A	INTRINSIC
PDB:3L4F\|C	646	705	2e-32	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000098938

SMART Domains

Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	443	457	N/A	INTRINSIC
low complexity region	473	490	N/A	INTRINSIC
low complexity region	503	515	N/A	INTRINSIC
low complexity region	569	600	N/A	INTRINSIC
PDB:3L4F\|C	646	705	2e-32	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000110904

SMART Domains

Protein: ENSMUSP00000106529
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	428	440	N/A	INTRINSIC
low complexity region	494	525	N/A	INTRINSIC
PDB:3L4F\|C	571	630	2e-32	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000110904

SMART Domains

Protein: ENSMUSP00000106529
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	428	440	N/A	INTRINSIC
low complexity region	494	525	N/A	INTRINSIC
PDB:3L4F\|C	571	630	2e-32	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000110909

SMART Domains

Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
CH	3	107	7.28e-13	SMART
Pfam:RhoGEF67_u1	117	163	8e-21	PFAM
SH3	166	221	9.97e-26	SMART
RhoGEF	254	429	8.36e-43	SMART
PH	459	559	3.77e-9	SMART
Pfam:RhoGEF67_u2	611	711	2.3e-53	PFAM
low complexity region	726	757	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154204

Predicted Effect

probably benign
Transcript: ENSMUST00000210012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211510

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,904,526 (GRCm39)	K263M	probably damaging	Het
Adam26a	G	A	8: 44,023,073 (GRCm39)	T139M	possibly damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap9	C	T	5: 4,007,645 (GRCm39)	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774 (GRCm39)	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,215,430 (GRCm39)	P125T	probably damaging	Het
Cblc	A	T	7: 19,524,399 (GRCm39)	D280E	probably benign	Het
Cdk11b	T	C	4: 155,732,854 (GRCm39)		probably benign	Het
Cela2a	G	T	4: 141,545,257 (GRCm39)	F239L	probably damaging	Het
Cfap57	A	T	4: 118,463,828 (GRCm39)	C342S	probably benign	Het
Clca4a	C	A	3: 144,669,516 (GRCm39)	W345L	probably damaging	Het
Col6a5	T	C	9: 105,808,492 (GRCm39)	D852G	unknown	Het
Cyp4a32	T	C	4: 115,468,505 (GRCm39)	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,003,062 (GRCm39)	P287S	probably damaging	Het
Dmxl1	T	A	18: 50,067,704 (GRCm39)	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,927,486 (GRCm39)	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,693,936 (GRCm39)	Y56*	probably null	Het
Duox1	T	C	2: 122,169,125 (GRCm39)	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 183,769,422 (GRCm39)	S129R	probably benign	Het
Dync2i1	T	C	12: 116,219,532 (GRCm39)	I137V	probably benign	Het
Epcam	G	A	17: 87,949,556 (GRCm39)	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,039,400 (GRCm39)	E384G	probably damaging	Het
Exosc10	A	T	4: 148,652,960 (GRCm39)	D525V	probably damaging	Het
Fam186a	T	A	15: 99,840,227 (GRCm39)	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 108,977,242 (GRCm39)	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,364,704 (GRCm39)	E568G	probably damaging	Het
Fmn2	C	T	1: 174,436,024 (GRCm39)		probably benign	Het
Fut9	A	G	4: 25,619,744 (GRCm39)	F357L	possibly damaging	Het
Garre1	A	T	7: 33,947,631 (GRCm39)	M459K	probably damaging	Het
Gas2l1	G	A	11: 5,014,266 (GRCm39)	H65Y	probably damaging	Het
Gjd2	A	T	2: 113,843,614 (GRCm39)	M1K	probably null	Het
Hdgfl3	T	C	7: 81,549,432 (GRCm39)	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,244,733 (GRCm39)	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,437,880 (GRCm39)	S223C	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Knl1	T	A	2: 118,902,219 (GRCm39)	W1307R	probably benign	Het
Kpna3	A	G	14: 61,624,926 (GRCm39)	L139P	probably damaging	Het
Lama3	T	C	18: 12,612,929 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,633,108 (GRCm39)	P192L	possibly damaging	Het
Lpo	T	A	11: 87,700,018 (GRCm39)		probably null	Het
Lrrc37	T	A	11: 103,507,897 (GRCm39)		probably benign	Het
Lrrd1	T	G	5: 3,900,483 (GRCm39)		probably null	Het
Nbas	T	A	12: 13,610,978 (GRCm39)		probably null	Het
Nemp1	G	A	10: 127,532,117 (GRCm39)	G341D	probably damaging	Het
Nrp1	T	C	8: 129,152,366 (GRCm39)	F192L	probably damaging	Het
Nufip2	T	A	11: 77,583,916 (GRCm39)	V610E	probably damaging	Het
Nup160	T	G	2: 90,530,780 (GRCm39)	Y479*	probably null	Het
Oas1d	A	T	5: 121,058,025 (GRCm39)	D323V	possibly damaging	Het
Or10ak14	A	G	4: 118,610,797 (GRCm39)	W315R	possibly damaging	Het
Or14j1	A	G	17: 38,146,244 (GRCm39)	D118G	possibly damaging	Het
Or4c3d	T	C	2: 89,882,128 (GRCm39)	Y180C	probably damaging	Het
Or52e4	C	A	7: 104,706,001 (GRCm39)	H183N	probably damaging	Het
Or5ac22	T	A	16: 59,135,069 (GRCm39)	R234*	probably null	Het
Or8b3	G	A	9: 38,314,550 (GRCm39)	V127M	possibly damaging	Het
Or8c9	A	T	9: 38,241,803 (GRCm39)	T307S	probably benign	Het
Pcm1	T	A	8: 41,766,396 (GRCm39)	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,279,730 (GRCm39)	V215A	probably benign	Het
Phf12	T	A	11: 77,914,427 (GRCm39)	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,595,663 (GRCm39)	E537G	probably null	Het
Plxna2	C	T	1: 194,326,678 (GRCm39)	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,574,131 (GRCm39)	M236L	probably benign	Het
Qrsl1	A	T	10: 43,772,026 (GRCm39)	S55T	probably damaging	Het
Rbm5	T	C	9: 107,621,112 (GRCm39)		probably null	Het
Sipa1l2	A	G	8: 126,171,274 (GRCm39)	S1403P	probably damaging	Het
Sis	C	T	3: 72,872,937 (GRCm39)	C67Y	probably damaging	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Sprtn	C	A	8: 125,628,372 (GRCm39)	H154Q	probably damaging	Het
St7l	A	G	3: 104,778,303 (GRCm39)	T147A	probably benign	Het
Stab1	G	A	14: 30,867,985 (GRCm39)	Q1630*	probably null	Het
Stpg2	A	G	3: 138,937,960 (GRCm39)	D173G	probably benign	Het
Tcf20	G	A	15: 82,736,978 (GRCm39)	T1491I	probably benign	Het
Themis2	A	T	4: 132,516,960 (GRCm39)	I180N	possibly damaging	Het
Timd5	T	C	11: 46,417,121 (GRCm39)	L13P	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Ttn	A	G	2: 76,638,340 (GRCm39)	V13980A	probably damaging	Het
Ttn	C	T	2: 76,575,978 (GRCm39)	V24972M	probably damaging	Het
Usp5	A	T	6: 124,800,423 (GRCm39)	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,614,802 (GRCm39)	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,270,435 (GRCm39)	C534G	probably damaging	Het
Wnk2	C	T	13: 49,214,202 (GRCm39)	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,681,707 (GRCm39)	P745S	probably damaging	Het
Zfp957	C	T	14: 79,451,436 (GRCm39)	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,135,254 (GRCm39)	E220G	possibly damaging	Het

Other mutations in Arhgef7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Arhgef7	APN	8	11,832,540 (GRCm39)	missense	probably damaging	1.00
IGL01481:Arhgef7	APN	8	11,865,256 (GRCm39)	missense	probably benign	0.01
IGL02376:Arhgef7	APN	8	11,867,735 (GRCm39)	missense	probably damaging	1.00
IGL02812:Arhgef7	APN	8	11,831,245 (GRCm39)	unclassified	probably benign
IGL02813:Arhgef7	APN	8	11,850,767 (GRCm39)	unclassified	probably benign
IGL02864:Arhgef7	APN	8	11,865,247 (GRCm39)	missense	possibly damaging	0.49
Mental_fitness	UTSW	8	11,850,811 (GRCm39)	missense	probably damaging	1.00
R0139:Arhgef7	UTSW	8	11,850,503 (GRCm39)	missense	probably damaging	0.99
R0157:Arhgef7	UTSW	8	11,835,812 (GRCm39)	missense	probably damaging	1.00
R0332:Arhgef7	UTSW	8	11,874,701 (GRCm39)	nonsense	probably null
R0448:Arhgef7	UTSW	8	11,869,659 (GRCm39)	missense	possibly damaging	0.78
R0973:Arhgef7	UTSW	8	11,869,659 (GRCm39)	missense	possibly damaging	0.78
R1491:Arhgef7	UTSW	8	11,869,733 (GRCm39)	critical splice donor site	probably null
R1566:Arhgef7	UTSW	8	11,832,620 (GRCm39)	missense	possibly damaging	0.85
R1601:Arhgef7	UTSW	8	11,832,638 (GRCm39)	splice site	probably null
R1716:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1717:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1717:Arhgef7	UTSW	8	11,858,712 (GRCm39)	unclassified	probably benign
R1901:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1902:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1933:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1934:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1956:Arhgef7	UTSW	8	11,855,266 (GRCm39)	missense	probably damaging	1.00
R2122:Arhgef7	UTSW	8	11,778,256 (GRCm39)	missense	possibly damaging	0.94
R2273:Arhgef7	UTSW	8	11,865,010 (GRCm39)	missense	possibly damaging	0.94
R2275:Arhgef7	UTSW	8	11,865,010 (GRCm39)	missense	possibly damaging	0.94
R2306:Arhgef7	UTSW	8	11,862,680 (GRCm39)	nonsense	probably null
R2375:Arhgef7	UTSW	8	11,864,995 (GRCm39)	missense	probably benign	0.08
R4530:Arhgef7	UTSW	8	11,850,802 (GRCm39)	missense	possibly damaging	0.60
R4805:Arhgef7	UTSW	8	11,881,552 (GRCm39)	missense	probably damaging	1.00
R5204:Arhgef7	UTSW	8	11,850,775 (GRCm39)	nonsense	probably null
R5212:Arhgef7	UTSW	8	11,778,388 (GRCm39)	missense	probably benign	0.40
R5256:Arhgef7	UTSW	8	11,850,811 (GRCm39)	missense	probably damaging	1.00
R5718:Arhgef7	UTSW	8	11,835,774 (GRCm39)	missense	probably damaging	1.00
R6195:Arhgef7	UTSW	8	11,872,017 (GRCm39)	missense	probably damaging	1.00
R6503:Arhgef7	UTSW	8	11,883,054 (GRCm39)	missense	possibly damaging	0.58
R6679:Arhgef7	UTSW	8	11,874,667 (GRCm39)	missense	possibly damaging	0.79
R7337:Arhgef7	UTSW	8	11,835,789 (GRCm39)	missense	probably damaging	1.00
R7422:Arhgef7	UTSW	8	11,850,861 (GRCm39)	missense	probably benign	0.01
R7684:Arhgef7	UTSW	8	11,869,663 (GRCm39)	missense	probably benign	0.38
R7793:Arhgef7	UTSW	8	11,874,507 (GRCm39)	missense	possibly damaging	0.73
R8762:Arhgef7	UTSW	8	11,831,216 (GRCm39)	missense	probably benign	0.08
R8955:Arhgef7	UTSW	8	11,808,451 (GRCm39)	start gained	probably benign
R9022:Arhgef7	UTSW	8	11,850,469 (GRCm39)	missense	probably benign	0.00
R9095:Arhgef7	UTSW	8	11,835,819 (GRCm39)	missense	probably damaging	1.00
R9425:Arhgef7	UTSW	8	11,867,736 (GRCm39)	missense	probably damaging	0.99
R9432:Arhgef7	UTSW	8	11,869,646 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGACAGCTTATTGCAGCTCTTACC -3'
(R):5'- GCCTGACATTAAGGATGGCTCAGAC -3'

Sequencing Primer
(F):5'- TCTAAAGGTCTCCGTGAAGC -3'
(R):5'- TGGCTCAGACCAGGGAG -3'

Posted On

2014-05-14