Mutagenetix > Incidental Mutation

Incidental Mutation 'R8969:Arhgef11'

682916

Institutional Source

Beutler Lab

Gene Symbol

Arhgef11

Ensembl Gene

ENSMUSG00000041977

Gene Name

Rho guanine nucleotide exchange factor 11

Synonyms

PDZ-RhoGEF, Prg

MMRRC Submission

068803-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8969 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87524866-87645341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87632949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 687 (S687P)

Ref Sequence

ENSEMBL: ENSMUSP00000039900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039476] [ENSMUST00000129113] [ENSMUST00000152006]

AlphaFold

Q68FM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000039476
AA Change: S687P

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

SMART Domains

Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: S687P

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
PDZ	55	123	2.45e-18	SMART
low complexity region	149	160	N/A	INTRINSIC
coiled coil region	205	231	N/A	INTRINSIC
RGS	353	472	3.36e-11	SMART
low complexity region	554	565	N/A	INTRINSIC
low complexity region	625	639	N/A	INTRINSIC
low complexity region	681	694	N/A	INTRINSIC
RhoGEF	768	952	1.11e-65	SMART
PH	996	1111	9.49e-6	SMART
low complexity region	1153	1166	N/A	INTRINSIC
low complexity region	1176	1188	N/A	INTRINSIC
low complexity region	1333	1343	N/A	INTRINSIC
low complexity region	1357	1367	N/A	INTRINSIC
low complexity region	1478	1490	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000129113
AA Change: S658P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: S658P

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
PDZ	55	123	2.45e-18	SMART
low complexity region	149	160	N/A	INTRINSIC
RGS	313	432	3.36e-11	SMART
low complexity region	596	610	N/A	INTRINSIC
low complexity region	652	665	N/A	INTRINSIC
RhoGEF	739	923	1.11e-65	SMART
PH	967	1082	9.49e-6	SMART
low complexity region	1124	1137	N/A	INTRINSIC
low complexity region	1147	1159	N/A	INTRINSIC
low complexity region	1304	1314	N/A	INTRINSIC
low complexity region	1328	1338	N/A	INTRINSIC
low complexity region	1449	1461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152006

SMART Domains

Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
PDZ	55	123	2.45e-18	SMART
low complexity region	149	160	N/A	INTRINSIC
coiled coil region	205	231	N/A	INTRINSIC
RGS	353	472	3.36e-11	SMART
low complexity region	554	565	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (77/77)

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 a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,227,944 (GRCm39)	N662K	probably benign	Het
Acp7	G	A	7: 28,307,382 (GRCm39)	R492W	probably damaging	Het
Adam33	C	T	2: 130,894,994 (GRCm39)	G688D	probably damaging	Het
Ak3	T	G	19: 29,025,094 (GRCm39)	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,547,790 (GRCm39)	T417A	probably benign	Het
Ambp	C	T	4: 63,072,328 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,873,598 (GRCm39)	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,592,832 (GRCm39)	A524T	probably benign	Het
Btbd10	A	T	7: 112,925,162 (GRCm39)	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,924,553 (GRCm39)	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,739 (GRCm39)	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522 (GRCm39)	D501E	probably benign	Het
Chrnb2	A	G	3: 89,664,532 (GRCm39)	F461L	probably damaging	Het
Clic1	T	C	17: 35,274,386 (GRCm39)		probably null	Het
Cmah	A	G	13: 24,606,636 (GRCm39)	Y89C	probably damaging	Het
Crkl	A	G	16: 17,286,918 (GRCm39)	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,049,630 (GRCm39)	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,344,682 (GRCm39)	Y142S	probably damaging	Het
Decr2	T	A	17: 26,306,355 (GRCm39)	M94L	probably benign	Het
Dspp	A	T	5: 104,325,640 (GRCm39)	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723 (GRCm39)	R1708G	probably damaging	Het
Eno3	T	A	11: 70,551,691 (GRCm39)	I217N	possibly damaging	Het
Fcho2	A	T	13: 98,891,604 (GRCm39)	L386*	probably null	Het
Gm5114	C	A	7: 39,058,732 (GRCm39)	V296F	probably damaging	Het
Hc	A	G	2: 34,909,475 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,879,581 (GRCm39)	V679A	probably benign	Het
Ifnar2	T	C	16: 91,201,060 (GRCm39)	F434L	probably benign	Het
Isl1	A	G	13: 116,439,857 (GRCm39)	S164P	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,967,116 (GRCm39)	Y621*	probably null	Het
Kif2b	T	C	11: 91,468,019 (GRCm39)	H88R	probably benign	Het
Kit	G	A	5: 75,799,722 (GRCm39)	V485I		Het
Klhl36	T	C	8: 120,596,887 (GRCm39)	L196P	probably damaging	Het
Klk1b27	T	A	7: 43,703,932 (GRCm39)	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,519,387 (GRCm39)	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,278,434 (GRCm39)	N242Y	probably damaging	Het
Krt36	T	A	11: 99,993,129 (GRCm39)	I449F	probably damaging	Het
Med27	G	T	2: 29,236,875 (GRCm39)	V7F	possibly damaging	Het
Mettl25b	G	A	3: 87,837,282 (GRCm39)		probably benign	Het
Mxd1	C	T	6: 86,628,466 (GRCm39)	V145M	probably benign	Het
Mylip	T	A	13: 45,544,820 (GRCm39)	F81L	probably damaging	Het
Nceh1	T	A	3: 27,276,885 (GRCm39)	F69L	probably null	Het
Ndufs3	A	T	2: 90,732,773 (GRCm39)	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,716,473 (GRCm39)	V46G	unknown	Het
Or51a39	T	C	7: 102,363,558 (GRCm39)	T21A	probably benign	Het
Or51f1e	T	G	7: 102,747,251 (GRCm39)	I101S	probably damaging	Het
Or5as1	T	A	2: 86,980,928 (GRCm39)	M26L	probably benign	Het
Or5m10b	A	G	2: 85,699,832 (GRCm39)	N299D	probably benign	Het
Palld	T	A	8: 62,137,883 (GRCm39)	H624L	probably damaging	Het
Pcbp2	T	G	15: 102,399,214 (GRCm39)	L343R	probably damaging	Het
Pclo	T	A	5: 14,572,208 (GRCm39)	I531N	unknown	Het
Phip	T	C	9: 82,809,017 (GRCm39)		probably benign	Het
Phldb2	A	T	16: 45,592,496 (GRCm39)		probably null	Het
Ppp2r5e	G	T	12: 75,500,492 (GRCm39)	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,880,431 (GRCm39)	I97M	probably benign	Het
Ptpn21	T	A	12: 98,655,284 (GRCm39)	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079 (GRCm39)	H121Q	possibly damaging	Het
Sec1	A	G	7: 45,328,897 (GRCm39)	F50S	possibly damaging	Het
Sec62	A	G	3: 30,873,024 (GRCm39)	E369G	unknown	Het
Serpinb2	A	T	1: 107,452,390 (GRCm39)	I323F	probably damaging	Het
Sh3rf1	A	C	8: 61,837,860 (GRCm39)	T802P	probably benign	Het
Srd5a3	A	G	5: 76,301,493 (GRCm39)	R241G	probably benign	Het
Suox	T	C	10: 128,507,542 (GRCm39)	N162S	probably benign	Het
Tenm2	C	T	11: 35,942,688 (GRCm39)	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,738,370 (GRCm39)	D86G	probably damaging	Het
Tmc1	G	A	19: 20,793,593 (GRCm39)	R523C	probably damaging	Het
Tmprss11e	T	A	5: 86,861,758 (GRCm39)	I263L	possibly damaging	Het
Tmtc4	T	C	14: 123,179,224 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,192,173 (GRCm39)	N171I	unknown	Het
Trpm3	A	G	19: 22,903,308 (GRCm39)	S1035G	probably damaging	Het
U2af1	C	T	17: 31,867,854 (GRCm39)	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,233,447 (GRCm39)	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,313,853 (GRCm39)	T154A	probably benign	Het
Xrn2	T	C	2: 146,871,304 (GRCm39)	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,318,677 (GRCm39)	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,775,555 (GRCm39)	S269L	probably benign	Het
Zfp735	T	A	11: 73,602,699 (GRCm39)	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,137,130 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,888,588 (GRCm39)	D832E	possibly damaging	Het

Other mutations in Arhgef11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Arhgef11	APN	3	87,636,810 (GRCm39)	missense	probably damaging	1.00
IGL00900:Arhgef11	APN	3	87,590,867 (GRCm39)	missense	possibly damaging	0.71
IGL01291:Arhgef11	APN	3	87,640,481 (GRCm39)	missense	probably benign	0.00
IGL01475:Arhgef11	APN	3	87,634,433 (GRCm39)	splice site	probably benign
IGL01599:Arhgef11	APN	3	87,644,353 (GRCm39)	missense	probably benign
IGL02251:Arhgef11	APN	3	87,590,854 (GRCm39)	missense	probably damaging	1.00
IGL02651:Arhgef11	APN	3	87,606,171 (GRCm39)	missense	probably damaging	0.99
IGL02884:Arhgef11	APN	3	87,635,313 (GRCm39)	missense	probably damaging	1.00
IGL02900:Arhgef11	APN	3	87,640,467 (GRCm39)	missense	probably benign	0.07
IGL03017:Arhgef11	APN	3	87,624,367 (GRCm39)	nonsense	probably null
ANU05:Arhgef11	UTSW	3	87,640,481 (GRCm39)	missense	probably benign	0.00
R0049:Arhgef11	UTSW	3	87,636,500 (GRCm39)	splice site	probably null
R0049:Arhgef11	UTSW	3	87,636,500 (GRCm39)	splice site	probably null
R0129:Arhgef11	UTSW	3	87,635,370 (GRCm39)	missense	probably damaging	1.00
R0486:Arhgef11	UTSW	3	87,596,159 (GRCm39)	splice site	probably null
R0698:Arhgef11	UTSW	3	87,640,766 (GRCm39)	missense	probably benign	0.24
R0701:Arhgef11	UTSW	3	87,640,766 (GRCm39)	missense	probably benign	0.24
R0849:Arhgef11	UTSW	3	87,643,203 (GRCm39)	missense	probably benign	0.24
R1055:Arhgef11	UTSW	3	87,624,425 (GRCm39)	missense	probably benign	0.19
R1256:Arhgef11	UTSW	3	87,634,442 (GRCm39)	missense	possibly damaging	0.81
R1401:Arhgef11	UTSW	3	87,640,776 (GRCm39)	nonsense	probably null
R1543:Arhgef11	UTSW	3	87,620,324 (GRCm39)	missense	probably benign	0.10
R1547:Arhgef11	UTSW	3	87,602,709 (GRCm39)	missense	possibly damaging	0.87
R1564:Arhgef11	UTSW	3	87,609,817 (GRCm39)	missense	probably benign
R1675:Arhgef11	UTSW	3	87,638,518 (GRCm39)	missense	possibly damaging	0.84
R2082:Arhgef11	UTSW	3	87,633,303 (GRCm39)	missense	possibly damaging	0.47
R2293:Arhgef11	UTSW	3	87,635,297 (GRCm39)	missense	probably damaging	1.00
R4739:Arhgef11	UTSW	3	87,605,306 (GRCm39)	missense	possibly damaging	0.47
R4930:Arhgef11	UTSW	3	87,635,901 (GRCm39)	missense	probably damaging	1.00
R5130:Arhgef11	UTSW	3	87,633,321 (GRCm39)	missense	possibly damaging	0.71
R5151:Arhgef11	UTSW	3	87,642,667 (GRCm39)	missense	probably damaging	1.00
R5157:Arhgef11	UTSW	3	87,635,817 (GRCm39)	splice site	probably null
R5203:Arhgef11	UTSW	3	87,642,664 (GRCm39)	missense	probably damaging	1.00
R5329:Arhgef11	UTSW	3	87,587,059 (GRCm39)	intron	probably benign
R5615:Arhgef11	UTSW	3	87,629,792 (GRCm39)	critical splice donor site	probably null
R5646:Arhgef11	UTSW	3	87,591,793 (GRCm39)	missense	possibly damaging	0.94
R6125:Arhgef11	UTSW	3	87,636,909 (GRCm39)	missense	probably damaging	1.00
R6242:Arhgef11	UTSW	3	87,635,385 (GRCm39)	missense	probably benign
R6543:Arhgef11	UTSW	3	87,640,715 (GRCm39)	missense	probably benign	0.09
R6801:Arhgef11	UTSW	3	87,643,159 (GRCm39)	missense	possibly damaging	0.53
R6939:Arhgef11	UTSW	3	87,594,227 (GRCm39)	missense	probably damaging	1.00
R7008:Arhgef11	UTSW	3	87,636,525 (GRCm39)	missense	possibly damaging	0.92
R7155:Arhgef11	UTSW	3	87,616,879 (GRCm39)	nonsense	probably null
R7169:Arhgef11	UTSW	3	87,634,755 (GRCm39)	missense	possibly damaging	0.79
R7325:Arhgef11	UTSW	3	87,620,599 (GRCm39)	missense	possibly damaging	0.62
R7392:Arhgef11	UTSW	3	87,624,482 (GRCm39)	critical splice donor site	probably null
R7683:Arhgef11	UTSW	3	87,629,690 (GRCm39)	missense	probably damaging	0.98
R7875:Arhgef11	UTSW	3	87,591,808 (GRCm39)	missense	probably damaging	1.00
R7912:Arhgef11	UTSW	3	87,640,529 (GRCm39)	missense	probably damaging	1.00
R7980:Arhgef11	UTSW	3	87,605,297 (GRCm39)	missense	probably benign	0.01
R8028:Arhgef11	UTSW	3	87,642,859 (GRCm39)	missense	probably benign
R8081:Arhgef11	UTSW	3	87,632,949 (GRCm39)	missense	probably damaging	1.00
R8118:Arhgef11	UTSW	3	87,643,164 (GRCm39)	missense	probably damaging	1.00
R8207:Arhgef11	UTSW	3	87,606,082 (GRCm39)	missense	possibly damaging	0.71
R8290:Arhgef11	UTSW	3	87,633,275 (GRCm39)	missense	probably damaging	1.00
R8443:Arhgef11	UTSW	3	87,620,406 (GRCm39)	missense	probably benign	0.17
R8543:Arhgef11	UTSW	3	87,589,181 (GRCm39)	missense	probably damaging	1.00
R8808:Arhgef11	UTSW	3	87,593,336 (GRCm39)	missense	probably damaging	1.00
R8976:Arhgef11	UTSW	3	87,635,321 (GRCm39)	missense	probably benign
R8983:Arhgef11	UTSW	3	87,640,508 (GRCm39)	missense
R8987:Arhgef11	UTSW	3	87,637,788 (GRCm39)	missense	probably damaging	1.00
R9168:Arhgef11	UTSW	3	87,633,790 (GRCm39)	missense	probably damaging	1.00
R9498:Arhgef11	UTSW	3	87,640,484 (GRCm39)	missense	probably benign
R9741:Arhgef11	UTSW	3	87,595,156 (GRCm39)	missense	probably benign	0.03
X0011:Arhgef11	UTSW	3	87,629,713 (GRCm39)	missense	probably benign
Z1176:Arhgef11	UTSW	3	87,642,769 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- CTCTCTGACAGTTCACGCTCAG -3'
(R):5'- CCAGCTCTAGATGTGGGAAG -3'

Sequencing Primer
(F):5'- AGTTCACGCTCAGAGATTCG -3'
(R):5'- CAGGTGTGCCACAGAGATATC -3'

Posted On

2021-10-11