Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Arhgef40'

5879

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef40

Ensembl Gene

ENSMUSG00000004562

Gene Name

Rho guanine nucleotide exchange factor (GEF) 40

Synonyms

E130112L23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

51984719-52006251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51988960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 154 (N154D)

Ref Sequence

ENSEMBL: ENSMUSP00000138354 (fasta)

Gene Model

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

AlphaFold

Q3UPH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000093813
AA Change: N154D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: N154D

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 damaging
Transcript: ENSMUST00000100639
AA Change: N154D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: N154D

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 damaging
Transcript: ENSMUST00000182061
AA Change: N154D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: N154D

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

noncoding transcript
Transcript: ENSMUST00000182480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182609

Predicted Effect

probably benign
Transcript: ENSMUST00000182649

Predicted Effect

probably damaging
Transcript: ENSMUST00000183208
AA Change: N154D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562
AA Change: N154D

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 damaging
Transcript: ENSMUST00000182760
AA Change: N154D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: N154D

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 damaging
Transcript: ENSMUST00000182905
AA Change: N154D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
AA Change: N154D

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 damaging
Transcript: ENSMUST00000182909
AA Change: N154D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: N154D

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: ENSMUST00000182740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182961

Coding Region Coverage

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Arhgef40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
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

Posted On

2012-04-20