Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00900:Arhgef11'

27068

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef11

Ensembl Gene

ENSMUSG00000041977

Gene Name

Rho guanine nucleotide exchange factor 11

Synonyms

PDZ-RhoGEF, Prg

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00900

Quality Score

Status

Chromosome

Chromosomal Location

87524866-87645341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87590867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 36 (D36G)

Ref Sequence

ENSEMBL: ENSMUSP00000122166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039476] [ENSMUST00000129113] [ENSMUST00000152006] [ENSMUST00000212015]

AlphaFold

Q68FM7

Predicted Effect

probably benign
Transcript: ENSMUST00000039476
AA Change: D36G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: D36G

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

possibly damaging
Transcript: ENSMUST00000129113
AA Change: D36G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: D36G

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

noncoding transcript
Transcript: ENSMUST00000136072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142799

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152006
AA Change: D36G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977
AA Change: D36G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212015
AA Change: D47G

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,361,383 (GRCm39)		probably benign	Het
Agap3	G	A	5: 24,681,366 (GRCm39)		probably benign	Het
Angptl2	A	T	2: 33,133,784 (GRCm39)	M369L	probably benign	Het
Ccnt1	A	G	15: 98,452,514 (GRCm39)	V134A	probably damaging	Het
Ces1e	T	C	8: 93,944,245 (GRCm39)	H191R	probably damaging	Het
Dhh	A	G	15: 98,796,101 (GRCm39)		probably benign	Het
Edil3	C	A	13: 89,437,652 (GRCm39)	H418N	probably benign	Het
Fam161b	T	C	12: 84,402,743 (GRCm39)	I296V	probably benign	Het
Focad	T	A	4: 88,047,260 (GRCm39)	N86K	probably damaging	Het
Foxn1	C	T	11: 78,262,109 (GRCm39)	G87S	probably benign	Het
Glipr1l2	T	C	10: 111,933,887 (GRCm39)	Y220H	probably benign	Het
Hnrnpa1	A	G	15: 103,152,166 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ipo11	T	C	13: 106,983,952 (GRCm39)	M797V	possibly damaging	Het
Itprid2	G	A	2: 79,490,822 (GRCm39)	R980Q	probably damaging	Het
Klhdc2	T	A	12: 69,350,308 (GRCm39)	F118I	probably benign	Het
Mtap	T	A	4: 89,090,594 (GRCm39)	Y221*	probably null	Het
Myh2	T	C	11: 67,070,210 (GRCm39)	V414A	probably damaging	Het
Ncor2	A	T	5: 125,102,848 (GRCm39)	Y1999N	probably damaging	Het
Or5d39	A	G	2: 87,979,604 (GRCm39)	F253S	possibly damaging	Het
Oxsm	A	G	14: 16,242,023 (GRCm38)	S249P	probably damaging	Het
Pabpc4l	T	A	3: 46,401,507 (GRCm39)	I46F	possibly damaging	Het
Pcnx2	A	G	8: 126,589,975 (GRCm39)		probably benign	Het
Rasal2	A	G	1: 157,239,499 (GRCm39)	S4P	possibly damaging	Het
Reln	A	G	5: 22,185,115 (GRCm39)	V1534A	probably damaging	Het
Rnf138	T	A	18: 21,154,017 (GRCm39)	D174E	possibly damaging	Het
Sh3pxd2a	T	A	19: 47,302,594 (GRCm39)	N162Y	probably benign	Het
Slc6a4	A	T	11: 76,914,006 (GRCm39)	T519S	probably benign	Het
Slfn9	A	T	11: 82,872,197 (GRCm39)	C846*	probably null	Het
Trip12	A	G	1: 84,702,485 (GRCm39)	S1945P	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,394 (GRCm39)	F69L	probably benign	Het
Zeb2	T	C	2: 44,887,287 (GRCm39)	D545G	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
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
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

Posted On

2013-04-17