Mutagenetix > Incidental Mutation

Incidental Mutation 'R7337:Arhgef7'

569584

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

045427-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11778053-11885219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11835789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 182 (L182P)

Ref Sequence

ENSEMBL: ENSMUSP00000106534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000098938] [ENSMUST00000110904] [ENSMUST00000110909] [ENSMUST00000210012] [ENSMUST00000210104] [ENSMUST00000211409]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074856
AA Change: L25P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511
AA Change: L25P

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 damaging
Transcript: ENSMUST00000098938
AA Change: L25P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511
AA Change: L25P

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: L31P

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 damaging
Transcript: ENSMUST00000110909
AA Change: L182P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: L182P

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 damaging
Transcript: ENSMUST00000210012
AA Change: L25P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210104

Predicted Effect

probably benign
Transcript: ENSMUST00000211409

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (88/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,076,113 (GRCm39)	H1198Q	probably damaging	Het
Adamts14	A	G	10: 61,043,239 (GRCm39)	V743A	probably damaging	Het
Adgrg6	A	G	10: 14,343,095 (GRCm39)	V284A	possibly damaging	Het
Alb	A	G	5: 90,622,452 (GRCm39)	K560R	probably damaging	Het
Aqp9	A	T	9: 71,069,764 (GRCm39)	F8L	probably benign	Het
Atr	A	G	9: 95,753,501 (GRCm39)	D701G	probably damaging	Het
Calr3	C	T	8: 73,185,339 (GRCm39)	D187N	probably damaging	Het
Ccdc198	A	G	14: 49,471,948 (GRCm39)	M163T	possibly damaging	Het
Ccdc65	A	G	15: 98,618,977 (GRCm39)	T319A	probably benign	Het
Ccdc66	A	T	14: 27,222,290 (GRCm39)	L151H	probably damaging	Het
Ces2e	T	A	8: 105,657,688 (GRCm39)		probably null	Het
Cfap46	A	G	7: 139,210,492 (GRCm39)		probably null	Het
Cfap74	A	G	4: 155,544,472 (GRCm39)	T1034A	unknown	Het
Cldnd1	T	G	16: 58,549,322 (GRCm39)		probably null	Het
Clec4f	C	A	6: 83,630,190 (GRCm39)	V123L	probably benign	Het
Cntn6	C	T	6: 104,627,491 (GRCm39)	T108I	probably damaging	Het
Crygn	T	G	5: 24,961,147 (GRCm39)	D53A	possibly damaging	Het
Cyp27a1	T	A	1: 74,774,594 (GRCm39)	V204E	probably damaging	Het
Cyp2c67	A	T	19: 39,597,708 (GRCm39)		probably null	Het
Ddb1	T	C	19: 10,605,195 (GRCm39)	V1061A	possibly damaging	Het
Dnah12	G	T	14: 26,488,534 (GRCm39)		probably null	Het
Draxin	T	C	4: 148,197,216 (GRCm39)	T194A	probably benign	Het
Drosha	T	A	15: 12,846,285 (GRCm39)	D473E	possibly damaging	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
G6pd2	T	A	5: 61,967,562 (GRCm39)	C446S	probably benign	Het
Gm29106	C	T	1: 118,104,642 (GRCm39)	S3L	unknown	Het
Grin3a	T	C	4: 49,702,762 (GRCm39)	Y908C	probably damaging	Het
Ints2	G	A	11: 86,108,668 (GRCm39)	A893V	probably benign	Het
Ippk	C	T	13: 49,602,767 (GRCm39)	T371I	probably benign	Het
Irf2	T	A	8: 47,260,316 (GRCm39)	C83S	probably damaging	Het
Jph3	C	T	8: 122,480,441 (GRCm39)	A373V	probably benign	Het
Kcnj6	C	T	16: 94,634,073 (GRCm39)	V13I	probably benign	Het
Lama3	T	C	18: 12,640,097 (GRCm39)		probably null	Het
Lmo7	A	T	14: 102,121,640 (GRCm39)	Q235L	probably damaging	Het
Marchf7	A	G	2: 60,071,189 (GRCm39)		probably null	Het
Mfsd6l	A	T	11: 68,448,109 (GRCm39)	Y320F	possibly damaging	Het
Mroh1	T	A	15: 76,335,676 (GRCm39)	W1440R	probably benign	Het
Mrps17	G	A	5: 129,793,863 (GRCm39)	G19D	probably damaging	Het
Myt1	A	G	2: 181,444,756 (GRCm39)	H566R	possibly damaging	Het
Nav2	T	C	7: 49,201,521 (GRCm39)	L176P	possibly damaging	Het
Nop58	T	A	1: 59,737,599 (GRCm39)	C139S	probably benign	Het
Nsd1	A	G	13: 55,394,022 (GRCm39)	D644G	probably damaging	Het
Nsd2	T	A	5: 34,042,816 (GRCm39)	C1027S	probably damaging	Het
Nsmce2	A	G	15: 59,473,265 (GRCm39)	I235V	probably damaging	Het
Nyap2	T	C	1: 81,314,230 (GRCm39)	V642A	possibly damaging	Het
Or14n1-ps1	A	T	7: 86,092,328 (GRCm39)	L46F	unknown	Het
Or8g51	A	G	9: 38,609,161 (GRCm39)	V167A	probably benign	Het
Paqr7	A	G	4: 134,234,431 (GRCm39)	D96G	probably benign	Het
Parp4	A	G	14: 56,839,852 (GRCm39)	Y520C	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Piezo1	A	T	8: 123,212,463 (GRCm39)	Y1955N		Het
Pnma8a	A	G	7: 16,695,315 (GRCm39)	K390R	probably benign	Het
Prdm10	G	T	9: 31,227,537 (GRCm39)	Q47H	probably damaging	Het
Psg22	T	A	7: 18,453,499 (GRCm39)	F104I	probably benign	Het
Ptprf	T	C	4: 118,068,322 (GRCm39)	E1738G	probably damaging	Het
Rad21l	A	T	2: 151,500,365 (GRCm39)	L218Q	probably damaging	Het
Rad54l2	A	G	9: 106,583,024 (GRCm39)	I798T	probably damaging	Het
Rgs5	G	T	1: 169,483,149 (GRCm39)	M1I	probably null	Het
Rhbdl2	T	C	4: 123,711,659 (GRCm39)	V132A	possibly damaging	Het
Rmi1	T	A	13: 58,557,393 (GRCm39)	Y547*	probably null	Het
Rptn	A	T	3: 93,304,212 (GRCm39)	D515V	probably benign	Het
Rsph10b	A	G	5: 143,898,033 (GRCm39)	N505D	probably benign	Het
Samhd1	T	C	2: 156,948,164 (GRCm39)	D539G	probably damaging	Het
Scube3	A	T	17: 28,387,156 (GRCm39)	I885F	probably damaging	Het
Sfmbt1	A	G	14: 30,506,696 (GRCm39)	I247V	possibly damaging	Het
Slc25a21	T	C	12: 56,904,828 (GRCm39)	I62V	probably benign	Het
Slc4a11	T	A	2: 130,527,452 (GRCm39)	N648Y	probably damaging	Het
Slc7a11	A	G	3: 50,397,448 (GRCm39)	V88A	possibly damaging	Het
Slc7a8	A	C	14: 54,964,263 (GRCm39)	F397V	possibly damaging	Het
Sox12	A	C	2: 152,239,377 (GRCm39)	L81R	probably damaging	Het
Spg11	T	C	2: 121,915,474 (GRCm39)	I1057V	probably benign	Het
St8sia3	G	A	18: 64,402,987 (GRCm39)	V265I	probably benign	Het
Stxbp5	A	G	10: 9,684,874 (GRCm39)	S509P	possibly damaging	Het
Svep1	T	C	4: 58,108,323 (GRCm39)	Y1129C	probably damaging	Het
Tenm4	G	T	7: 96,523,333 (GRCm39)	R1625L	probably benign	Het
Tlr4	T	C	4: 66,758,191 (GRCm39)	F328S	possibly damaging	Het
Tmprss15	T	C	16: 78,868,164 (GRCm39)	T215A	probably benign	Het
Tmprss9	A	T	10: 80,718,504 (GRCm39)	I62L	probably benign	Het
Trpm5	C	T	7: 142,642,756 (GRCm39)	A64T	probably benign	Het
Txk	A	C	5: 72,889,109 (GRCm39)	Y148*	probably null	Het
Uba5	C	T	9: 103,932,454 (GRCm39)	G170R	possibly damaging	Het
Uggt2	A	T	14: 119,323,587 (GRCm39)	D231E	probably benign	Het
Ulk4	A	T	9: 121,077,993 (GRCm39)	D525E	probably benign	Het
Vmn1r158	T	A	7: 22,489,649 (GRCm39)	T187S	probably benign	Het
Vmn1r52	T	A	6: 90,156,605 (GRCm39)	M303K	probably benign	Het
Vmn2r54	A	G	7: 12,356,044 (GRCm39)	F454S	probably benign	Het
Zbp1	A	T	2: 173,060,546 (GRCm39)	L8*	probably null	Het
Zmym2	A	T	14: 57,181,557 (GRCm39)	D924V	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
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'- AATGTGTTGGCCATCTTTATGACAG -3'
(R):5'- AAGACCAGACGCTTTCTCTGC -3'

Sequencing Primer
(F):5'- GGCCATCTTTATGACAGTGAAG -3'
(R):5'- AGACGCTTTCTCTGCACTTAATGG -3'

Posted On

2019-09-13