Mutagenetix > Incidental Mutation

Incidental Mutation 'R9022:Arhgef7'

686285

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

MMRRC Submission

068852-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11778053-11885219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11850469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 257 (N257D)

Ref Sequence

ENSEMBL: ENSMUSP00000106534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000098938] [ENSMUST00000110904] [ENSMUST00000110909] [ENSMUST00000210012] [ENSMUST00000211409]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074856
AA Change: N100D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511
AA Change: N100D

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 benign
Transcript: ENSMUST00000098938
AA Change: N100D

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

SMART Domains

Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511
AA Change: N100D

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

SMART Domains

Protein: ENSMUSP00000106529
Gene: ENSMUSG00000031511
AA Change: N106D

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 benign
Transcript: ENSMUST00000110909
AA Change: N257D

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

SMART Domains

Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: N257D

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

probably benign
Transcript: ENSMUST00000210012
AA Change: N100D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211409

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (84/84)

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
Actl6a	G	T	3: 32,769,649 (GRCm39)	A155S	probably benign	Het
Adar	A	G	3: 89,643,045 (GRCm39)	T309A	probably benign	Het
Adgrv1	A	T	13: 81,303,312 (GRCm39)	W6125R	probably damaging	Het
Adprhl1	A	G	8: 13,274,352 (GRCm39)	L802P	probably benign	Het
Ahcy	A	G	2: 154,910,779 (GRCm39)	L63P	probably damaging	Het
Ang5	G	A	14: 44,200,352 (GRCm39)	D139N	probably damaging	Het
Ankrd31	A	G	13: 96,962,655 (GRCm39)	D482G	probably benign	Het
Art3	C	A	5: 92,540,393 (GRCm39)	S45R	probably benign	Het
Atxn1	T	C	13: 45,720,891 (GRCm39)	R335G	probably damaging	Het
Bag6	T	A	17: 35,363,641 (GRCm39)	L775H	probably damaging	Het
BC004004	T	G	17: 29,501,130 (GRCm39)	H26Q	possibly damaging	Het
Camsap3	T	C	8: 3,656,575 (GRCm39)	L986S	probably benign	Het
Cbx5	T	C	15: 103,121,586 (GRCm39)	E17G	probably damaging	Het
Cc2d1b	T	C	4: 108,484,617 (GRCm39)		probably null	Het
Ccdc59	T	C	10: 105,683,007 (GRCm39)	Y231H	probably damaging	Het
Cemip2	T	C	19: 21,789,986 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,917,854 (GRCm39)		probably null	Het
Cybrd1	A	G	2: 70,967,904 (GRCm39)	I158M	possibly damaging	Het
Disp2	T	A	2: 118,621,179 (GRCm39)	I637N	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,512,116 (GRCm39)		probably null	Het
Duox2	C	A	2: 122,110,919 (GRCm39)	*1518L	probably null	Het
Dym	A	G	18: 75,258,507 (GRCm39)	I422V	probably benign	Het
Entpd8	A	C	2: 24,975,144 (GRCm39)	I492L	probably benign	Het
Fabp12	A	G	3: 10,317,333 (GRCm39)	S13P	probably damaging	Het
Fam124b	A	G	1: 80,190,705 (GRCm39)	I226T	probably damaging	Het
Fer1l6	T	C	15: 58,455,329 (GRCm39)	L763P	probably damaging	Het
Git2	A	G	5: 114,907,676 (GRCm39)		probably null	Het
Gltpd2	A	T	11: 70,410,153 (GRCm39)	Y37F	probably benign	Het
Gm44511	T	G	6: 128,797,271 (GRCm39)	Q72H	possibly damaging	Het
Grid2ip	A	T	5: 143,366,204 (GRCm39)	T565S	probably benign	Het
Grk6	T	C	13: 55,606,877 (GRCm39)	S532P	possibly damaging	Het
Haspin	A	T	11: 73,026,831 (GRCm39)	F753I	probably damaging	Het
Herpud1	T	A	8: 95,116,197 (GRCm39)	S92T	possibly damaging	Het
Heyl	C	T	4: 123,139,768 (GRCm39)	A109V	probably damaging	Het
Hivep3	T	C	4: 119,955,304 (GRCm39)	S1207P	probably benign	Het
Hk1	A	G	10: 62,105,768 (GRCm39)	S893P	probably damaging	Het
Itih1	C	A	14: 30,652,327 (GRCm39)	V789L	probably benign	Het
Kif12	T	C	4: 63,090,121 (GRCm39)	D10G	possibly damaging	Het
Kif16b	C	T	2: 142,554,537 (GRCm39)	E754K	possibly damaging	Het
Kif20a	A	G	18: 34,760,898 (GRCm39)	Q191R	probably benign	Het
Lap3	A	G	5: 45,652,548 (GRCm39)	D48G	probably benign	Het
Matn3	T	A	12: 9,002,355 (GRCm39)	V189E	probably damaging	Het
Mbp	G	A	18: 82,597,067 (GRCm39)	E143K	possibly damaging	Het
Mrgprd	A	G	7: 144,875,555 (GRCm39)	H142R	probably benign	Het
Nbea	A	T	3: 55,551,110 (GRCm39)	C2685S	possibly damaging	Het
Nhsl1	A	C	10: 18,403,409 (GRCm39)	I1381L	possibly damaging	Het
Npc1	A	G	18: 12,346,422 (GRCm39)	M258T	probably benign	Het
Or2w3	T	C	11: 58,556,550 (GRCm39)	L55P	probably damaging	Het
Or7e178	T	A	9: 20,225,268 (GRCm39)	N316I	probably damaging	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdia4	C	G	6: 47,785,149 (GRCm39)	A73P	probably benign	Het
Plxnb2	T	C	15: 89,048,471 (GRCm39)	Y646C	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pold2	T	C	11: 5,824,121 (GRCm39)	D228G	probably benign	Het
Popdc2	T	G	16: 38,194,508 (GRCm39)	C310G	probably benign	Het
Prdm10	A	G	9: 31,268,424 (GRCm39)	Y791C	probably benign	Het
Psg19	C	T	7: 18,530,762 (GRCm39)	V131I	probably benign	Het
Psg19	T	A	7: 18,531,044 (GRCm39)	T37S	probably benign	Het
Psme1	A	G	14: 55,817,271 (GRCm39)	E39G	probably damaging	Het
Rabep2	A	G	7: 126,043,719 (GRCm39)	E472G	probably damaging	Het
Rap1gap	T	C	4: 137,445,309 (GRCm39)	F297S	probably damaging	Het
Reln	A	G	5: 22,181,613 (GRCm39)	S1757P	possibly damaging	Het
Rybp	G	T	6: 100,210,074 (GRCm39)	D95E	possibly damaging	Het
Slc12a8	T	A	16: 33,466,934 (GRCm39)	D480E	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc25a24	A	T	3: 109,070,757 (GRCm39)	D372V	probably benign	Het
Slc49a4	T	C	16: 35,570,912 (GRCm39)	T131A	probably benign	Het
Stab1	T	C	14: 30,882,226 (GRCm39)	T490A	probably benign	Het
Stat5b	A	T	11: 100,681,634 (GRCm39)	I540N	probably benign	Het
Tasor2	A	G	13: 3,626,659 (GRCm39)	V1097A	probably benign	Het
Thy1	T	A	9: 43,957,947 (GRCm39)	L25Q	probably damaging	Het
Trim30a	A	G	7: 104,084,956 (GRCm39)	S85P	probably benign	Het
Use1	G	A	8: 71,819,942 (GRCm39)	V36I	probably benign	Het
Vmn1r228	T	A	17: 20,996,778 (GRCm39)	I247F	probably damaging	Het
Vmn2r13	T	A	5: 109,304,242 (GRCm39)	T730S	possibly damaging	Het
Vmn2r9	T	C	5: 108,992,923 (GRCm39)	D529G	possibly damaging	Het
Washc5	A	G	15: 59,217,233 (GRCm39)	I778T	possibly damaging	Het
Washc5	A	T	15: 59,233,069 (GRCm39)	M294K	probably damaging	Het
Wnt8a	A	T	18: 34,680,298 (GRCm39)	D221V	probably damaging	Het
Zfp616	A	G	11: 73,976,539 (GRCm39)	K936R	probably damaging	Het
Zfp618	G	A	4: 63,012,687 (GRCm39)	C133Y	probably damaging	Het
Zfp82	A	G	7: 29,761,714 (GRCm39)	S56P	probably damaging	Het
Zkscan16	T	A	4: 58,957,021 (GRCm39)	D434E	probably benign	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
R1719:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
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
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'- GGCCTTCATAATTCATCAACTAGG -3'
(R):5'- GATGAACACGATGCTGTGCC -3'

Sequencing Primer
(F):5'- CAACTAGGGTTAGCAGTTAATAACC -3'
(R):5'- AAGCGGGCACTCTGACCTC -3'

Posted On

2021-10-11