Mutagenetix > Incidental Mutation

Incidental Mutation 'R2293:Arhgef11'

245068

Institutional Source

Beutler Lab

Gene Symbol

Arhgef11

Ensembl Gene

ENSMUSG00000041977

Gene Name

Rho guanine nucleotide exchange factor 11

Synonyms

PDZ-RhoGEF, Prg

MMRRC Submission

040292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2293 (G1)

Quality Score

213

Status

Not validated

Chromosome

Chromosomal Location

87524866-87645341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87635297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 869 (R869C)

Ref Sequence

ENSEMBL: ENSMUSP00000118123 (fasta)

Gene Model

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

AlphaFold

Q68FM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000039476
AA Change: R898C

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

SMART Domains

Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: R898C

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: R869C

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

SMART Domains

Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: R869C

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,428 (GRCm39)	N640S	probably benign	Het
Aox4	T	A	1: 58,261,096 (GRCm39)	I143N	probably damaging	Het
Bcl6	T	C	16: 23,796,359 (GRCm39)	N23D	probably damaging	Het
Brca2	T	A	5: 150,483,999 (GRCm39)	F2939L	possibly damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Cyp2j6	T	A	4: 96,417,670 (GRCm39)	T318S	possibly damaging	Het
Dlg5	A	C	14: 24,208,180 (GRCm39)	S1009A	probably benign	Het
Dlx6	A	G	6: 6,867,246 (GRCm39)	Y283C	probably damaging	Het
Dnah10	T	C	5: 124,896,285 (GRCm39)	Y3550H	probably damaging	Het
Dock7	T	C	4: 98,854,606 (GRCm39)	S1553G	probably damaging	Het
Ice1	C	A	13: 70,763,076 (GRCm39)	D193Y	probably damaging	Het
Mdga2	A	T	12: 66,615,759 (GRCm39)	L547*	probably null	Het
Mgat4a	C	A	1: 37,491,673 (GRCm39)	R215L	probably damaging	Het
Msantd2	A	G	9: 37,401,100 (GRCm39)	T69A	probably damaging	Het
Muc5ac	A	G	7: 141,360,936 (GRCm39)	T1416A	probably damaging	Het
Nup214	T	C	2: 31,916,887 (GRCm39)	S1181P	probably benign	Het
Pip5k1c	A	G	10: 81,149,918 (GRCm39)	E42G	possibly damaging	Het
Slc12a5	A	G	2: 164,834,250 (GRCm39)	E757G	probably benign	Het
Slc16a14	A	T	1: 84,890,564 (GRCm39)	M247K	probably benign	Het
Slc35b2	T	A	17: 45,878,067 (GRCm39)	V398E	probably damaging	Het
Slc44a5	C	A	3: 153,945,934 (GRCm39)	L156I	probably benign	Het
Trmt11	G	C	10: 30,423,744 (GRCm39)	P387R	probably 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
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
R8969:Arhgef11	UTSW	3	87,632,949 (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'- TGTTGAAAGAGAAAACTGCCAC -3'
(R):5'- GCCATGGCCTTGTAGCATTTTG -3'

Sequencing Primer
(F):5'- AACTGCCACCATTTCCAGGGG -3'
(R):5'- TCTGAGACTCAAAATGTACCAGG -3'

Posted On

2014-10-30