Mutagenetix > Incidental Mutation

Incidental Mutation 'R7980:Arhgef11'

651119

Institutional Source

Beutler Lab

Gene Symbol

Arhgef11

Ensembl Gene

ENSMUSG00000041977

Gene Name

Rho guanine nucleotide exchange factor 11

Synonyms

PDZ-RhoGEF, Prg

MMRRC Submission

046021-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87524866-87645341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87605297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 251 (R251C)

Ref Sequence

ENSEMBL: ENSMUSP00000039900 (fasta)

Gene Model

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

AlphaFold

Q68FM7

Predicted Effect

probably benign
Transcript: ENSMUST00000039476
AA Change: R251C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: R251C

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 benign
Transcript: ENSMUST00000129113
AA Change: R211C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: R211C

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
AA Change: R251C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977
AA Change: R251C

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,786,315 (GRCm39)	L101P	unknown	Het
Actn3	G	A	19: 4,917,950 (GRCm39)	P339L	probably damaging	Het
Adamts12	G	A	15: 11,263,423 (GRCm39)	C595Y	probably damaging	Het
Adrm1b	T	A	3: 92,336,406 (GRCm39)	K99*	probably null	Het
Agl	A	T	3: 116,585,830 (GRCm39)	N99K	probably benign	Het
Aplp1	A	T	7: 30,134,992 (GRCm39)	M592K	probably benign	Het
Arhgef12	A	T	9: 42,882,595 (GRCm39)	C1416*	probably null	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Asxl2	A	T	12: 3,546,630 (GRCm39)	Q471H	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Btbd16	C	A	7: 130,426,097 (GRCm39)	P520Q	probably damaging	Het
Cacnb2	A	G	2: 14,609,326 (GRCm39)	E22G	probably benign	Het
Catspere2	G	T	1: 177,830,610 (GRCm39)		probably null	Het
Cdc25a	T	A	9: 109,708,949 (GRCm39)	D124E	probably damaging	Het
Cdc42se1	A	T	3: 95,139,166 (GRCm39)		probably benign	Het
Cdcp3	T	A	7: 130,836,506 (GRCm39)	V400E	probably damaging	Het
Cfap54	T	C	10: 92,817,922 (GRCm39)	K1265E	possibly damaging	Het
Chaf1b	A	G	16: 93,681,415 (GRCm39)	H11R	probably damaging	Het
Chil4	T	C	3: 106,110,060 (GRCm39)	K345E	probably damaging	Het
Cntnap1	A	G	11: 101,079,719 (GRCm39)	I1283V	probably benign	Het
Dagla	C	T	19: 10,229,406 (GRCm39)	C618Y	possibly damaging	Het
Ddx19b	C	T	8: 111,738,077 (GRCm39)	V224M	possibly damaging	Het
Dohh	C	T	10: 81,223,726 (GRCm39)	R260*	probably null	Het
Dsg3	A	T	18: 20,664,417 (GRCm39)	N472Y	probably benign	Het
Duox1	T	A	2: 122,177,801 (GRCm39)	N1528K	possibly damaging	Het
Eml6	A	G	11: 29,783,205 (GRCm39)	Y559H	probably damaging	Het
Esp4	A	G	17: 40,913,192 (GRCm39)	T20A	possibly damaging	Het
Fbxw21	T	C	9: 108,985,639 (GRCm39)		probably null	Het
Gcc2	T	A	10: 58,114,574 (GRCm39)		probably null	Het
Grin3b	C	T	10: 79,811,559 (GRCm39)	A715V	possibly damaging	Het
Gxylt2	A	T	6: 100,764,170 (GRCm39)		probably null	Het
Hspa4	A	T	11: 53,171,404 (GRCm39)	S267T	probably benign	Het
Hspd1	A	G	1: 55,117,785 (GRCm39)	V491A	possibly damaging	Het
Idua	A	G	5: 108,828,486 (GRCm39)	E280G	probably benign	Het
Ift172	T	A	5: 31,417,988 (GRCm39)	E1267V	probably benign	Het
Itsn1	T	A	16: 91,702,182 (GRCm39)	V1448E	unknown	Het
Kat6a	A	G	8: 23,416,432 (GRCm39)	M647V	possibly damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif1b	A	T	4: 149,354,378 (GRCm39)	F221I	probably damaging	Het
Lama2	G	T	10: 27,239,609 (GRCm39)	D315E	probably damaging	Het
Lrrn4	G	A	2: 132,720,096 (GRCm39)	L235F	probably damaging	Het
Map2k6	T	A	11: 110,390,210 (GRCm39)	I248N		Het
Mgat5	A	G	1: 127,407,248 (GRCm39)	Q638R	probably benign	Het
Mia2	A	G	12: 59,155,651 (GRCm39)	K455E	probably damaging	Het
Mrs2	A	G	13: 25,204,221 (GRCm39)	C3R	possibly damaging	Het
Nprl3	A	G	11: 32,187,357 (GRCm39)	I325T	probably damaging	Het
Nr1h3	T	A	2: 91,021,229 (GRCm39)	Q186L	probably benign	Het
Oas1f	A	G	5: 120,989,538 (GRCm39)	E159G	probably benign	Het
Or2g7	A	T	17: 38,378,412 (GRCm39)	M117L	possibly damaging	Het
Or4k15b	T	A	14: 50,272,252 (GRCm39)	S203C	probably damaging	Het
Or52ae7	T	A	7: 103,119,504 (GRCm39)	F86Y	probably damaging	Het
Or52e19b	T	A	7: 103,032,970 (GRCm39)	I80F	probably damaging	Het
Or52s1b	T	A	7: 102,822,242 (GRCm39)	S201C	probably damaging	Het
Or5m12	A	G	2: 85,734,942 (GRCm39)	F152S	probably benign	Het
Or8g4	T	C	9: 39,662,417 (GRCm39)	I245T	probably damaging	Het
Or9a4	T	A	6: 40,549,154 (GRCm39)	I278N	probably benign	Het
Pbxip1	G	C	3: 89,353,648 (GRCm39)	S267T	probably benign	Het
Pcdhga10	A	T	18: 37,881,645 (GRCm39)	I469F	possibly damaging	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Plcd4	A	C	1: 74,604,464 (GRCm39)	N788T	probably benign	Het
Pms2	T	A	5: 143,867,909 (GRCm39)	W838R	probably damaging	Het
Pnpla6	T	A	8: 3,586,562 (GRCm39)	V926D	probably damaging	Het
Pros1	A	T	16: 62,748,516 (GRCm39)	H663L	possibly damaging	Het
Prss55	T	C	14: 64,316,138 (GRCm39)		probably null	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad21	A	G	15: 51,828,422 (GRCm39)	S549P	probably benign	Het
Sap130	T	A	18: 31,781,182 (GRCm39)		probably null	Het
Sertad4	C	T	1: 192,529,189 (GRCm39)	S209N	probably benign	Het
Sez6	A	G	11: 77,844,668 (GRCm39)	T164A	probably benign	Het
Slc22a28	C	T	19: 8,078,837 (GRCm39)	R284Q	probably damaging	Het
Slco4c1	T	C	1: 96,764,650 (GRCm39)	K474R	probably benign	Het
Stx5a	T	C	19: 8,719,802 (GRCm39)	S56P	probably damaging	Het
Svopl	T	C	6: 37,991,744 (GRCm39)	T379A	probably damaging	Het
Sypl2	A	G	3: 108,125,008 (GRCm39)	F118L	probably damaging	Het
Tfrc	G	A	16: 32,435,967 (GRCm39)	V215M	probably benign	Het
Thnsl2	T	C	6: 71,115,652 (GRCm39)	N185S	probably damaging	Het
Tmem104	T	C	11: 115,134,580 (GRCm39)	I372T	probably damaging	Het
Tnfaip6	G	A	2: 51,941,070 (GRCm39)	G204S	probably damaging	Het
Trim12a	C	T	7: 103,953,335 (GRCm39)	E259K	probably benign	Het
Tubgcp6	G	A	15: 88,986,232 (GRCm39)	R1436C	probably benign	Het
Tyrp1	C	T	4: 80,758,864 (GRCm39)	L246F	probably damaging	Het
Ubr4	G	T	4: 139,145,717 (GRCm39)	V216F		Het
Unc5a	A	G	13: 55,147,319 (GRCm39)	I409V	possibly damaging	Het
Vmn1r15	T	C	6: 57,235,399 (GRCm39)	L89P	probably damaging	Het
Vmn1r32	A	T	6: 66,530,305 (GRCm39)	L157*	probably null	Het
Zcchc24	A	G	14: 25,720,185 (GRCm39)	Y160H	probably damaging	Het
Zfp184	A	T	13: 22,144,376 (GRCm39)	H694L	probably damaging	Het
Zfp345	A	C	2: 150,314,723 (GRCm39)	Y271*	probably null	Het
Zranb3	T	C	1: 128,030,671 (GRCm39)		probably benign	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
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'- TTGCAAAAGCTGGGTATGGG -3'
(R):5'- CCCTGGAGCTAGAATTGTGG -3'

Sequencing Primer
(F):5'- GGAAGAGCAAAAGACCAGTGTGTC -3'
(R):5'- TTGTGGAGAAGGTACCCCG -3'

Posted On

2020-09-15