Mutagenetix > Incidental Mutations

Incidental Mutation 'R1933:Arhgef7'

215574

Institutional Source

Beutler Lab

Gene Symbol

Arhgef7

Ensembl Gene

ENSMUSG00000031511

Gene Name

Rho guanine nucleotide exchange factor (GEF7)

Synonyms

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

MMRRC Submission

039951-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11727721-11835219 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 11808713 bp

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]

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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,754,885	Y396F	probably benign	Het
Adra2a	T	A	19: 54,046,406	F64L	probably damaging	Het
Ankrd45	A	T	1: 161,151,300	N103I	probably damaging	Het
Bsn	A	G	9: 108,116,444	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,972,957	I529K	probably damaging	Het
Ccdc110	A	G	8: 45,943,250	N726S	probably damaging	Het
Ccdc78	T	A	17: 25,787,070	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,008	Q516K	probably benign	Het
Cd300c2	A	T	11: 115,000,859	V63E	probably benign	Het
Cdh16	A	G	8: 104,617,963	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,688,539	F710L	probably damaging	Het
Clpb	T	G	7: 101,779,211	F393V	probably damaging	Het
Commd9	G	A	2: 101,901,031	R187H	probably damaging	Het
Crx	T	A	7: 15,868,376	K126*	probably null	Het
Dcaf13	T	A	15: 39,138,088	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,734,495	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,434,387	D456E	probably damaging	Het
Dscam	A	G	16: 96,593,214	S1963P	probably benign	Het
Efl1	C	T	7: 82,763,117	Q905*	probably null	Het
Fam57b	T	A	7: 126,827,672		probably null	Het
Farsa	T	C	8: 84,861,151	F104L	probably benign	Het
Fbxl19	C	A	7: 127,750,929	A231E	probably benign	Het
Fbxw19	A	T	9: 109,481,650	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965		probably benign	Het
Frem3	A	G	8: 80,612,890	N604S	probably benign	Het
Gad1	T	G	2: 70,587,392	C312G	possibly damaging	Het
Garem2	G	T	5: 30,114,862	E441*	probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475	M8K	probably benign	Het
Gpr162	G	A	6: 124,861,447	S80F	probably damaging	Het
Grpr	C	A	X: 163,549,141	V53L	probably benign	Het
Il21	C	T	3: 37,232,486	R27H	probably benign	Het
Il21r	C	T	7: 125,628,981	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,435,866	T6A	possibly damaging	Het
Klra4	T	A	6: 130,065,244	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,244,966		probably null	Het
Lrrtm3	A	G	10: 64,088,513	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,462,647	K490*	probably null	Het
Myh14	C	T	7: 44,615,348	M1671I	probably benign	Het
Nebl	A	T	2: 17,375,292	M757K	probably damaging	Het
Olfr1110	T	A	2: 87,135,844	H159L	probably damaging	Het
Olfr504	A	C	7: 108,565,523	F91V	possibly damaging	Het
Olfr631	G	T	7: 103,929,130	M102I	probably damaging	Het
Pkhd1l1	A	T	15: 44,540,884	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,849,605	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prss53	T	C	7: 127,886,262	*553W	probably null	Het
Psma3	T	A	12: 70,984,694	M43K	probably benign	Het
Rad50	G	T	11: 53,680,061	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,093,859	V237E	probably damaging	Het
Scn10a	T	A	9: 119,609,998	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,930,927	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,876,121	E8G	probably damaging	Het
Sgcg	C	T	14: 61,232,412	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262	V367M	probably damaging	Het
Spata31	T	C	13: 64,920,610	S191P	probably benign	Het
Srbd1	A	G	17: 86,102,893	V537A	probably damaging	Het
Srgap1	G	T	10: 121,925,903	D113E	possibly damaging	Het
Srl	A	G	16: 4,492,350	I505T	probably damaging	Het
St14	G	A	9: 31,106,212	T226I	probably benign	Het
Stard9	T	A	2: 120,698,656	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,056,575	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695	N455K	possibly damaging	Het
Sytl3	T	A	17: 6,733,046	V205E	probably damaging	Het
Tenm4	A	G	7: 96,895,326	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tlr1	T	G	5: 64,925,438	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,545	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,232,720	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,619,659	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,307,420	S42T	probably benign	Het
Vps4a	T	C	8: 107,044,558	V392A	probably benign	Het
Wdfy4	T	C	14: 33,133,344	E771G	probably benign	Het
Whrn	G	A	4: 63,415,639	Q415*	probably null	Het
Wnt5a	C	T	14: 28,511,845	P10L	probably benign	Het
Zfhx2	T	C	14: 55,075,238		probably benign	Het
Zfp451	T	C	1: 33,777,822	K132R	probably damaging	Het

Other mutations in Arhgef7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Arhgef7	APN	8	11782540	missense	probably damaging	1.00
IGL01481:Arhgef7	APN	8	11815256	missense	probably benign	0.01
IGL02376:Arhgef7	APN	8	11817735	missense	probably damaging	1.00
IGL02812:Arhgef7	APN	8	11781245	unclassified	probably benign
IGL02813:Arhgef7	APN	8	11800767	unclassified	probably benign
IGL02864:Arhgef7	APN	8	11815247	missense	possibly damaging	0.49
Mental_fitness	UTSW	8	11800811	missense	probably damaging	1.00
R0139:Arhgef7	UTSW	8	11800503	missense	probably damaging	0.99
R0157:Arhgef7	UTSW	8	11785812	missense	probably damaging	1.00
R0332:Arhgef7	UTSW	8	11824701	nonsense	probably null
R0448:Arhgef7	UTSW	8	11819659	missense	possibly damaging	0.78
R0973:Arhgef7	UTSW	8	11819659	missense	possibly damaging	0.78
R1491:Arhgef7	UTSW	8	11819733	critical splice donor site	probably null
R1566:Arhgef7	UTSW	8	11782620	missense	possibly damaging	0.85
R1601:Arhgef7	UTSW	8	11782638	unclassified	probably null
R1716:Arhgef7	UTSW	8	11808713	splice site	probably null
R1717:Arhgef7	UTSW	8	11808712	unclassified	probably benign
R1717:Arhgef7	UTSW	8	11808713	splice site	probably null
R1719:Arhgef7	UTSW	8	11808713	splice site	probably null
R1901:Arhgef7	UTSW	8	11808713	splice site	probably null
R1902:Arhgef7	UTSW	8	11808713	splice site	probably null
R1934:Arhgef7	UTSW	8	11808713	splice site	probably null
R1956:Arhgef7	UTSW	8	11805266	missense	probably damaging	1.00
R2122:Arhgef7	UTSW	8	11728256	missense	possibly damaging	0.94
R2273:Arhgef7	UTSW	8	11815010	missense	possibly damaging	0.94
R2275:Arhgef7	UTSW	8	11815010	missense	possibly damaging	0.94
R2306:Arhgef7	UTSW	8	11812680	nonsense	probably null
R2375:Arhgef7	UTSW	8	11814995	missense	probably benign	0.08
R4530:Arhgef7	UTSW	8	11800802	missense	possibly damaging	0.60
R4805:Arhgef7	UTSW	8	11831552	missense	probably damaging	1.00
R5204:Arhgef7	UTSW	8	11800775	nonsense	probably null
R5212:Arhgef7	UTSW	8	11728388	missense	probably benign	0.40
R5256:Arhgef7	UTSW	8	11800811	missense	probably damaging	1.00
R5718:Arhgef7	UTSW	8	11785774	missense	probably damaging	1.00
R6195:Arhgef7	UTSW	8	11822017	missense	probably damaging	1.00
R6503:Arhgef7	UTSW	8	11833054	missense	possibly damaging	0.58
R6679:Arhgef7	UTSW	8	11824667	missense	possibly damaging	0.79
R7337:Arhgef7	UTSW	8	11785789	missense	probably damaging	1.00
R7422:Arhgef7	UTSW	8	11800861	missense	probably benign	0.01
R7684:Arhgef7	UTSW	8	11819663	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- GGTAAAGATGTGCCTTGCAGG -3'
(R):5'- AGGGTGGTTTCATGGACACAAG -3'

Sequencing Primer
(F):5'- AGGGAGACTGATACTGGATACTTTTC -3'
(R):5'- GCCTGACATTAAGGATGGCTC -3'

Posted On

2014-07-14