Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Arhgef40'

444375

Institutional Source

Beutler Lab

Gene Symbol

Arhgef40

Ensembl Gene

ENSMUSG00000004562

Gene Name

Rho guanine nucleotide exchange factor (GEF) 40

Synonyms

E130112L23Rik

MMRRC Submission

043308-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51984719-52006251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52000900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1279 (I1279V)

Ref Sequence

ENSEMBL: ENSMUSP00000138635 (fasta)

Gene Model

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

AlphaFold

Q3UPH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093813
AA Change: I1279V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: I1279V

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

possibly damaging
Transcript: ENSMUST00000100639
AA Change: I1279V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: I1279V

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

possibly damaging
Transcript: ENSMUST00000182061
AA Change: I1279V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: I1279V

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: ENSMUST00000182217

Predicted Effect

probably benign
Transcript: ENSMUST00000182412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182644

Predicted Effect

probably benign
Transcript: ENSMUST00000182667

Predicted Effect

probably benign
Transcript: ENSMUST00000182760
AA Change: I1288V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: I1288V

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

noncoding transcript
Transcript: ENSMUST00000182777

Predicted Effect

probably benign
Transcript: ENSMUST00000182828

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182909
AA Change: I1279V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: I1279V

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: ENSMUST00000183213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183022

Predicted Effect

probably benign
Transcript: ENSMUST00000183208

SMART Domains

Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182905

SMART Domains

Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294	E492*	probably null	Het
Acp7	T	A	7: 28,616,543	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arl14	A	C	3: 69,223,038	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931		probably null	Het
Capn7	T	C	14: 31,369,802	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181		probably null	Het
Myrip	A	G	9: 120,461,433	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544		probably null	Het
Olfr1113	T	A	2: 87,213,728	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769		probably null	Het
Pkhd1	T	A	1: 20,588,531	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081		probably null	Het
Pygb	T	C	2: 150,820,888		probably null	Het
Rnf114	T	C	2: 167,510,934	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217		probably null	Het
Uso1	A	T	5: 92,198,337	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513	D151G	probably null	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
R4676:Arhgef40	UTSW	14	51990959	nonsense	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
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
R7914:Arhgef40	UTSW	14	51987575	missense	probably damaging	1.00
R8060:Arhgef40	UTSW	14	51984995	splice site	probably benign
R8144:Arhgef40	UTSW	14	51998175	missense	probably damaging	1.00
R8195:Arhgef40	UTSW	14	51988769	missense	probably damaging	1.00
R8432:Arhgef40	UTSW	14	51989400	missense	probably benign	0.00
R8738:Arhgef40	UTSW	14	52000957	missense	probably damaging	1.00
R8830:Arhgef40	UTSW	14	52003708	missense	probably damaging	1.00
R9038:Arhgef40	UTSW	14	51997615	missense	probably damaging	0.96
R9712:Arhgef40	UTSW	14	51988958	missense	probably damaging	0.99
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'- CCAACTCTGCAGTGCATCTC -3'
(R):5'- AGCACTCCTAGTTCTCAGGAAG -3'

Sequencing Primer
(F):5'- CTAGACATGTGTGTGTGAGAGAC -3'
(R):5'- TTCTCAGGAAGAACATAGCTCAG -3'

Posted On

2016-11-09