Mutagenetix > Incidental Mutation

Incidental Mutation 'R7392:Arhgef11'

573491

Institutional Source

Beutler Lab

Gene Symbol

Arhgef11

Ensembl Gene

ENSMUSG00000041977

Gene Name

Rho guanine nucleotide exchange factor 11

Synonyms

PDZ-RhoGEF, Prg

MMRRC Submission

045474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87524866-87645341 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 87624482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039900 (fasta)

Gene Model

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

AlphaFold

Q68FM7

Predicted Effect

probably null
Transcript: ENSMUST00000039476

SMART Domains

Protein: ENSMUSP00000039900
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
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 null
Transcript: ENSMUST00000129113

SMART Domains

Protein: ENSMUSP00000118123
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
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: 99.7%
20x: 98.8%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,990 (GRCm39)	F564L	probably damaging	Het
Abcc2	T	C	19: 43,797,126 (GRCm39)	I499T	probably damaging	Het
Adamts13	C	T	2: 26,879,336 (GRCm39)	R630C	probably damaging	Het
Adgrv1	A	T	13: 81,708,808 (GRCm39)	F1199I	probably damaging	Het
Agbl5	G	A	5: 31,048,115 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,516,648 (GRCm39)	D881G	possibly damaging	Het
Arap2	A	T	5: 62,855,728 (GRCm39)	S569R	possibly damaging	Het
Arhgap15	T	C	2: 43,953,786 (GRCm39)	S171P	possibly damaging	Het
Baz1a	C	A	12: 54,945,550 (GRCm39)	L1271F	probably damaging	Het
Bdnf	A	C	2: 109,554,275 (GRCm39)	K216N	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bnip5	A	T	17: 29,127,351 (GRCm39)	D219E	probably benign	Het
Cacna1c	T	A	6: 118,718,881 (GRCm39)	I390F		Het
Chd8	A	G	14: 52,470,312 (GRCm39)	S433P	probably benign	Het
Clrn2	A	G	5: 45,621,251 (GRCm39)	E215G	possibly damaging	Het
Col19a1	T	G	1: 24,573,115 (GRCm39)	D219A	unknown	Het
Col2a1	G	A	15: 97,878,032 (GRCm39)	R1036*	probably null	Het
Copg1	T	A	6: 87,867,257 (GRCm39)	V110D	probably benign	Het
Cpd	C	T	11: 76,692,605 (GRCm39)	G744D	probably damaging	Het
Crygs	G	A	16: 22,625,252 (GRCm39)	P63L	probably benign	Het
Dcn	A	G	10: 97,345,860 (GRCm39)	D224G	probably damaging	Het
Dnah7a	T	C	1: 53,540,820 (GRCm39)	E2518G	probably benign	Het
Efcab6	C	A	15: 83,873,152 (GRCm39)	R197L	probably benign	Het
Efr3b	T	A	12: 4,019,588 (GRCm39)	Y723F	probably benign	Het
Enam	A	G	5: 88,649,523 (GRCm39)	N344S	probably damaging	Het
Erich4	A	G	7: 25,315,101 (GRCm39)	I58T	possibly damaging	Het
Esrp1	A	G	4: 11,338,809 (GRCm39)	V665A	probably benign	Het
Etf1	G	A	18: 35,039,103 (GRCm39)	T388I	probably benign	Het
Faf1	A	G	4: 109,652,040 (GRCm39)	T244A	probably benign	Het
Fbn1	T	C	2: 125,185,844 (GRCm39)	D1610G	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Frem1	G	T	4: 82,932,064 (GRCm39)	F212L	probably benign	Het
Fuom	T	A	7: 139,681,073 (GRCm39)	D85V	probably damaging	Het
Gcfc2	T	C	6: 81,919,993 (GRCm39)		probably null	Het
Gpr37	C	T	6: 25,688,786 (GRCm39)	A104T	probably benign	Het
Hsp90ab1	G	C	17: 45,879,974 (GRCm39)	T514S	probably benign	Het
Ifnl2	A	G	7: 28,209,094 (GRCm39)	F74L	probably benign	Het
Ipo11	G	A	13: 107,028,199 (GRCm39)	R367*	probably null	Het
Itpr2	T	C	6: 146,260,838 (GRCm39)	D963G	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrch3	T	A	16: 32,807,125 (GRCm39)	L466*	probably null	Het
Lrfn5	A	T	12: 61,887,090 (GRCm39)	T293S	probably benign	Het
Lrp5	A	G	19: 3,660,199 (GRCm39)	I955T	probably damaging	Het
Lrrc4b	C	T	7: 44,111,439 (GRCm39)	T437M	probably damaging	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Mapkap1	G	T	2: 34,325,166 (GRCm39)	R94L	probably damaging	Het
Mtmr4	T	A	11: 87,495,383 (GRCm39)	L480Q	probably damaging	Het
Mycbp2	T	C	14: 103,389,627 (GRCm39)	I3504M	probably damaging	Het
Mycbp2	A	T	14: 103,480,564 (GRCm39)	C1169S	probably damaging	Het
Myo15a	T	C	11: 60,396,802 (GRCm39)	S1455P		Het
Niban1	A	G	1: 151,571,975 (GRCm39)	T307A	probably damaging	Het
Nid2	A	G	14: 19,818,724 (GRCm39)	D406G	probably benign	Het
Nrip2	A	G	6: 128,381,913 (GRCm39)	I69V	probably benign	Het
Nthl1	G	A	17: 24,857,598 (GRCm39)	V266I	probably benign	Het
Or2ag16	T	C	7: 106,352,589 (GRCm39)	E2G	possibly damaging	Het
Or5an6	G	T	19: 12,371,829 (GRCm39)	L67F	probably damaging	Het
Or5b21	A	G	19: 12,839,951 (GRCm39)	T271A	probably benign	Het
Or5g23	A	C	2: 85,438,832 (GRCm39)	C141G	possibly damaging	Het
Or5p75-ps1	C	A	7: 108,107,291 (GRCm39)	H9Q	possibly damaging	Het
Or8k25	A	G	2: 86,243,496 (GRCm39)	V300A	probably benign	Het
Or8s5	A	G	15: 98,238,192 (GRCm39)	V226A	probably benign	Het
Pcdhb1	A	C	18: 37,398,171 (GRCm39)	S41R	possibly damaging	Het
Pdcd11	T	A	19: 47,116,436 (GRCm39)	F1529I	probably damaging	Het
Plcd3	C	A	11: 102,992,383 (GRCm39)		probably benign	Het
Qdpr	T	C	5: 45,596,718 (GRCm39)	M149V	probably benign	Het
R3hcc1	T	A	14: 69,943,329 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,041,856 (GRCm39)	Y392C		Het
Slc8a3	A	C	12: 81,361,577 (GRCm39)	V414G	probably damaging	Het
Slco1a6	A	G	6: 142,103,003 (GRCm39)	S54P	probably benign	Het
Sos1	C	A	17: 80,731,629 (GRCm39)	V624F	probably damaging	Het
Spdef	T	C	17: 27,936,262 (GRCm39)	D227G	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Srsf12	A	T	4: 33,209,265 (GRCm39)	R62W	unknown	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Sult2b1	T	C	7: 45,391,862 (GRCm39)		probably benign	Het
Taf1a	A	G	1: 183,190,095 (GRCm39)	T66A		Het
Tfg	A	T	16: 56,532,972 (GRCm39)		probably null	Het
Trim34b	A	G	7: 103,985,604 (GRCm39)	N413S	probably benign	Het
Txndc15	T	A	13: 55,869,399 (GRCm39)	M184K	probably damaging	Het
Umodl1	A	C	17: 31,201,306 (GRCm39)	S412R	probably damaging	Het
Zbtb8b	T	A	4: 129,326,683 (GRCm39)	M161L	probably benign	Het
Zfp597	A	T	16: 3,684,369 (GRCm39)	V129E	probably benign	Het
Zfp790	T	C	7: 29,528,050 (GRCm39)	I245T	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
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'- GTACGGAGATTGTCTGCAGAC -3'
(R):5'- GACTGGCCCTAGCAAATCAC -3'

Sequencing Primer
(F):5'- TCTGCAGACAGTGTCCCTCAG -3'
(R):5'- CTAGAGAGCTGACTCAGGCTTATAGC -3'

Posted On

2019-09-13