Mutagenetix > Incidental Mutations

Incidental Mutation 'R4676:Arhgef40'

349603

Institutional Source

Beutler Lab

Gene Symbol

Arhgef40

Ensembl Gene

ENSMUSG00000004562

Gene Name

Rho guanine nucleotide exchange factor (GEF) 40

Synonyms

E130112L23Rik

MMRRC Submission

042013-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R4676 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51984719-52006251 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 51990959 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 554 (C554*)

Ref Sequence

ENSEMBL: ENSMUSP00000138635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093813] [ENSMUST00000100639] [ENSMUST00000182061] [ENSMUST00000182193] [ENSMUST00000182338] [ENSMUST00000182649] [ENSMUST00000182760] [ENSMUST00000182905] [ENSMUST00000182909] [ENSMUST00000183208]

Predicted Effect

probably null
Transcript: ENSMUST00000093813
AA Change: C554*

SMART Domains

Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: C554*

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1246	6.1e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1403	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100639
AA Change: C554*

SMART Domains

Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: C554*

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1246	5.9e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1430	1443	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182019

Predicted Effect

probably null
Transcript: ENSMUST00000182061
AA Change: C554*

SMART Domains

Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: C554*

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1247	3.7e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1430	1443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182193

Predicted Effect

probably benign
Transcript: ENSMUST00000182338

SMART Domains

Protein: ENSMUSP00000138482
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	72	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182609

Predicted Effect

probably benign
Transcript: ENSMUST00000182649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182740

Predicted Effect

probably null
Transcript: ENSMUST00000182760
AA Change: C554*

SMART Domains

Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: C554*

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	782	801	N/A	INTRINSIC
low complexity region	894	923	N/A	INTRINSIC
low complexity region	967	1005	N/A	INTRINSIC
Pfam:RhoGEF	1096	1256	5.9e-9	PFAM
PH	1273	1381	3.97e-8	SMART
low complexity region	1412	1433	N/A	INTRINSIC
low complexity region	1487	1500	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000182905
AA Change: C554*

SMART Domains

Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
AA Change: C554*

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
SCOP:d1kz7a1	1073	1162	4e-7	SMART
Blast:RhoGEF	1087	1157	1e-8	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000182909
AA Change: C554*

SMART Domains

Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: C554*

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1247	3.9e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1403	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183167

Predicted Effect

unknown
Transcript: ENSMUST00000183208
AA Change: P499T

SMART Domains

Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562
AA Change: P499T

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,150,652	I13N	probably damaging	Het
Abcd3	T	A	3: 121,774,166	T409S	possibly damaging	Het
Acad12	C	A	5: 121,607,171	W317L	probably damaging	Het
Acap1	T	A	11: 69,889,468	M50L	probably benign	Het
Acvr1b	T	A	15: 101,202,986	V343E	probably damaging	Het
Adgb	C	A	10: 10,426,710	G371W	probably damaging	Het
AF529169	A	G	9: 89,601,553	V597A	probably damaging	Het
Akap9	A	G	5: 4,032,774	K1966R	probably damaging	Het
Akap9	C	T	5: 4,064,515	Q48*	probably null	Het
Ano10	T	C	9: 122,263,787	R159G	probably damaging	Het
Anxa7	T	C	14: 20,467,915	M128V	probably benign	Het
Asna1	C	T	8: 85,018,873	A219T	probably benign	Het
Atf6	T	C	1: 170,787,410	Y538C	probably damaging	Het
Atp8b1	A	C	18: 64,538,678	D1091E	probably benign	Het
BC034090	A	G	1: 155,226,264	Y85H	possibly damaging	Het
BC067074	C	A	13: 113,368,807	L2157I	probably damaging	Het
BC067074	T	G	13: 113,368,808	L2157R	probably damaging	Het
Bcas2	A	G	3: 103,175,701		probably benign	Het
Bnc2	T	C	4: 84,292,819	N463D	probably damaging	Het
Capn7	A	T	14: 31,359,259	H411L	possibly damaging	Het
Cavin3	T	C	7: 105,481,113	E164G	probably damaging	Het
Ccdc191	T	C	16: 43,939,173		probably benign	Het
Ccdc88b	A	G	19: 6,853,000	V858A	probably benign	Het
Clcn3	A	G	8: 60,930,651		probably benign	Het
Commd6	T	C	14: 101,640,284		probably benign	Het
Cul3	G	A	1: 80,271,674	L561F	probably damaging	Het
Cyfip1	T	A	7: 55,875,013	I131N	probably damaging	Het
Dlgap3	T	A	4: 127,233,761	Y741N	probably damaging	Het
Dnah5	A	T	15: 28,295,260	I1380F	possibly damaging	Het
Dync1h1	G	T	12: 110,662,541	L4177F	probably damaging	Het
Ethe1	G	A	7: 24,607,894	V178M	probably damaging	Het
Flnc	A	T	6: 29,445,154		probably null	Het
Glt8d1	T	C	14: 31,006,692	F26L	probably benign	Het
Gm5493	T	A	17: 22,748,081	D63E	probably benign	Het
Gm9996	T	A	10: 29,143,838		probably benign	Het
Gnl2	T	G	4: 125,053,473	S629R	possibly damaging	Het
Gpbp1l1	T	C	4: 116,590,265	S381P	probably damaging	Het
Igsf10	A	C	3: 59,325,949	F1788V	probably benign	Het
Inpp5d	C	A	1: 87,715,142	P935Q	probably damaging	Het
Itch	A	C	2: 155,199,435	I468L	probably benign	Het
Itga5	A	T	15: 103,357,210	Y192N	probably damaging	Het
Itih3	T	A	14: 30,918,949	Q302L	probably null	Het
Itih3	T	A	14: 30,921,686	Q121L	possibly damaging	Het
Kctd17	T	A	15: 78,435,759		probably benign	Het
Lsm1	T	C	8: 25,793,689	L43P	probably damaging	Het
Magi3	A	T	3: 104,015,825	M1192K	probably benign	Het
Mecom	A	G	3: 30,268,668		probably benign	Het
Mtmr3	A	T	11: 4,527,855	F63Y	probably benign	Het
Naa16	A	G	14: 79,336,348		probably benign	Het
Neto1	A	T	18: 86,398,302	T45S	possibly damaging	Het
Nlrp4a	A	T	7: 26,450,229	R420S	probably damaging	Het
Nr1h4	T	C	10: 89,473,874	D317G	probably damaging	Het
Olfr1497	T	A	19: 13,795,474	I46F	possibly damaging	Het
Olfr1504	C	T	19: 13,887,401	D270N	probably damaging	Het
Olfr920	A	G	9: 38,755,659		probably benign	Het
Pde5a	A	T	3: 122,747,893	M11L	possibly damaging	Het
Plxnb1	G	A	9: 109,110,435	R1416Q	possibly damaging	Het
Polm	A	T	11: 5,835,749	Y141*	probably null	Het
Rxfp1	A	G	3: 79,705,668	F32L	probably damaging	Het
Scrt1	T	A	15: 76,521,668	D13V	possibly damaging	Het
Slc1a7	T	A	4: 107,977,674	V79E	possibly damaging	Het
Snurf	T	C	7: 59,995,522	Q48R	probably benign	Het
Srek1	T	C	13: 103,758,187		probably benign	Het
Stxbp5l	T	C	16: 37,255,884	S267G	probably damaging	Het
Taf5	C	T	19: 47,074,970	R320W	probably damaging	Het
Tars2	A	T	3: 95,753,091	N106K	probably damaging	Het
Tatdn3	A	T	1: 191,049,334	L207Q	probably damaging	Het
Tdrd6	T	C	17: 43,627,610	E849G	probably damaging	Het
Tedc2	T	C	17: 24,220,011	T111A	probably benign	Het
Tfg	T	A	16: 56,694,491		probably null	Het
Tgds	A	T	14: 118,116,231	S225T	probably benign	Het
Tnks2	T	A	19: 36,875,271	Y134*	probably null	Het
Trappc1	T	A	11: 69,325,530	V134D	probably damaging	Het
Ttc3	C	A	16: 94,442,761	P853Q	probably damaging	Het
Ttc7	C	A	17: 87,370,735		probably benign	Het
Ttf1	A	G	2: 29,074,594	S643G	probably damaging	Het
Tubgcp3	A	T	8: 12,650,171	S338T	probably damaging	Het
Ugt1a6a	T	C	1: 88,139,285	I271T	possibly damaging	Het
Vipas39	T	A	12: 87,241,301	Y445F	probably damaging	Het
Vmn1r31	A	C	6: 58,472,013	I289S	probably damaging	Het
Wdr92	T	C	11: 17,229,794	V265A	probably benign	Het
Zfp112	A	G	7: 24,126,260	E551G	probably damaging	Het
Zfp397	T	A	18: 23,960,797	Y446*	probably null	Het
Zfp442	A	T	2: 150,409,606	H124Q	probably damaging	Het

Other mutations in Arhgef40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Arhgef40	APN	14	51988960	missense	probably damaging	1.00
IGL00848:Arhgef40	APN	14	51987427	missense	probably damaging	1.00
IGL00966:Arhgef40	APN	14	51991698	critical splice donor site	probably null
IGL01123:Arhgef40	APN	14	51994346	missense	probably damaging	0.99
IGL02110:Arhgef40	APN	14	51989405	missense	probably damaging	1.00
IGL02490:Arhgef40	APN	14	51989195	missense	probably damaging	0.99
IGL02505:Arhgef40	APN	14	52000863	missense	probably damaging	1.00
IGL02636:Arhgef40	APN	14	51997408	missense	probably damaging	1.00
R0200:Arhgef40	UTSW	14	51996974	missense	probably damaging	0.99
R0496:Arhgef40	UTSW	14	52004907	unclassified	probably benign
R0608:Arhgef40	UTSW	14	51996974	missense	probably damaging	0.99
R0826:Arhgef40	UTSW	14	52000993	missense	probably benign	0.05
R1126:Arhgef40	UTSW	14	51997126	missense	probably damaging	0.96
R1330:Arhgef40	UTSW	14	51990156	missense	probably benign	0.42
R1612:Arhgef40	UTSW	14	52004081	missense	probably damaging	1.00
R1794:Arhgef40	UTSW	14	51989930	missense	possibly damaging	0.94
R1844:Arhgef40	UTSW	14	51997623	missense	probably damaging	0.99
R2018:Arhgef40	UTSW	14	52003705	missense	probably damaging	1.00
R2064:Arhgef40	UTSW	14	51996183	missense	probably damaging	1.00
R2321:Arhgef40	UTSW	14	51994276	splice site	probably benign
R3877:Arhgef40	UTSW	14	52002285	missense	probably damaging	1.00
R4233:Arhgef40	UTSW	14	51990171	missense	possibly damaging	0.50
R4596:Arhgef40	UTSW	14	51987224	critical splice donor site	probably null
R4703:Arhgef40	UTSW	14	52002310	missense	probably damaging	1.00
R4704:Arhgef40	UTSW	14	52002310	missense	probably damaging	1.00
R4719:Arhgef40	UTSW	14	52004938	unclassified	probably benign
R4915:Arhgef40	UTSW	14	51990099	missense	probably damaging	1.00
R4917:Arhgef40	UTSW	14	51990099	missense	probably damaging	1.00
R4918:Arhgef40	UTSW	14	51990099	missense	probably damaging	1.00
R5097:Arhgef40	UTSW	14	51989689	missense	probably damaging	1.00
R5183:Arhgef40	UTSW	14	52004099	missense	probably damaging	0.98
R5195:Arhgef40	UTSW	14	51989812	missense	possibly damaging	0.68
R5367:Arhgef40	UTSW	14	51989699	missense	probably damaging	0.99
R5381:Arhgef40	UTSW	14	51991849	missense	probably damaging	0.99
R5594:Arhgef40	UTSW	14	51996157	missense	probably damaging	1.00
R5632:Arhgef40	UTSW	14	51994338	missense	probably damaging	1.00
R5665:Arhgef40	UTSW	14	52000900	missense	possibly damaging	0.80
R5798:Arhgef40	UTSW	14	51997032	missense	probably damaging	1.00
R5820:Arhgef40	UTSW	14	51987496	missense	possibly damaging	0.76
R6229:Arhgef40	UTSW	14	51990090	missense	probably benign	0.06
R6451:Arhgef40	UTSW	14	52000999	missense	probably damaging	1.00
R6633:Arhgef40	UTSW	14	51997431	missense	probably damaging	1.00
R6642:Arhgef40	UTSW	14	51990962	unclassified	probably benign
R6675:Arhgef40	UTSW	14	51991641	missense	probably damaging	0.99
R6781:Arhgef40	UTSW	14	51997897	intron	probably benign
R6901:Arhgef40	UTSW	14	51997368	missense	probably damaging	1.00
R7852:Arhgef40	UTSW	14	51991797	missense	unknown
R7857:Arhgef40	UTSW	14	51988755	missense	probably damaging	0.97
R7935:Arhgef40	UTSW	14	51991797	missense	unknown
R7940:Arhgef40	UTSW	14	51988755	missense	probably damaging	0.97
U24488:Arhgef40	UTSW	14	51998216	missense	probably benign	0.07
X0023:Arhgef40	UTSW	14	52003684	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCACAAACAAGGACATGTTAG -3'
(R):5'- CAACAGCTTGAAAACCTGAGGG -3'

Sequencing Primer
(F):5'- CATGTTAGACACACACAGGGTAG -3'
(R):5'- CTTGAAAACCTGAGGGCTGAAATAG -3'

Posted On

2015-10-08