Mutagenetix > Incidental Mutation

Incidental Mutation 'R5594:Arhgef40'

437729

Institutional Source

Beutler Lab

Gene Symbol

Arhgef40

Ensembl Gene

ENSMUSG00000004562

Gene Name

Rho guanine nucleotide exchange factor (GEF) 40

Synonyms

E130112L23Rik

MMRRC Submission

043146-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R5594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51984719-52006251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51996157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 820 (L820H)

Ref Sequence

ENSEMBL: ENSMUSP00000138635 (fasta)

Gene Model

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

AlphaFold

Q3UPH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000093813
AA Change: L820H

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

SMART Domains

Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: L820H

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: L820H

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

SMART Domains

Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: L820H

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: ENSMUST00000182019

Predicted Effect

probably damaging
Transcript: ENSMUST00000182061
AA Change: L820H

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

SMART Domains

Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: L820H

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: ENSMUST00000182412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182644

Predicted Effect

probably damaging
Transcript: ENSMUST00000182760
AA Change: L829H

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

SMART Domains

Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: L829H

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: L820H

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

SMART Domains

Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
AA Change: L820H

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: L820H

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

SMART Domains

Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: L820H

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

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,938,027	V120I	unknown	Het
4931414P19Rik	A	G	14: 54,584,984	Y399H	probably damaging	Het
5430419D17Rik	T	A	7: 131,239,523	D647E	probably benign	Het
6430573F11Rik	A	G	8: 36,512,298	T352A	probably benign	Het
Abca9	G	T	11: 110,144,862	P644Q	probably damaging	Het
Acly	T	C	11: 100,522,120		probably null	Het
Adamts14	A	T	10: 61,227,101		probably null	Het
Ankdd1a	T	C	9: 65,502,241	N471S	probably damaging	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Arhgef28	T	C	13: 97,939,492	T1345A	probably benign	Het
Atp2b4	A	G	1: 133,730,510	V554A	probably damaging	Het
Birc7	G	A	2: 180,933,336		probably null	Het
Ccdc80	C	T	16: 45,116,263	R684C	probably benign	Het
Cdc25b	C	A	2: 131,191,618	P159Q	probably damaging	Het
Chek2	G	T	5: 110,855,834		probably null	Het
Chil6	C	T	3: 106,394,429		probably null	Het
Cr2	A	G	1: 195,157,190	I643T	probably damaging	Het
Cwf19l2	C	A	9: 3,418,773	Q187K	probably benign	Het
Cyth4	A	G	15: 78,607,075		probably null	Het
Depdc5	A	G	5: 32,901,490	T268A	possibly damaging	Het
Dnah17	G	T	11: 118,043,229		probably null	Het
Dnah3	T	C	7: 119,971,621	Y2210C	possibly damaging	Het
Elmod3	G	A	6: 72,594,816		probably benign	Het
Eogt	T	A	6: 97,116,035	T394S	probably benign	Het
Evi5	A	G	5: 107,820,451	V182A	possibly damaging	Het
Fbxo30	T	C	10: 11,290,479	I315T	probably benign	Het
Fibcd1	T	C	2: 31,838,617	N76S	probably damaging	Het
Gcc2	G	T	10: 58,287,242	R1190M	probably damaging	Het
Gfm2	T	C	13: 97,165,038	S450P	probably damaging	Het
Glg1	G	A	8: 111,187,881	R424C	probably damaging	Het
Gm11543	T	A	11: 94,828,554		noncoding transcript	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Hhip	G	T	8: 79,996,863	D387E	probably damaging	Het
Hif1a	T	A	12: 73,937,792	Y46*	probably null	Het
Hivep3	G	T	4: 120,123,048		probably null	Het
Kif13a	T	A	13: 46,752,862	E535V	probably damaging	Het
Lrch3	T	C	16: 32,914,184	Y15H	probably damaging	Het
Lyst	T	G	13: 13,743,333	I3326S	probably damaging	Het
Lyst	T	A	13: 13,759,397	V3560E	probably benign	Het
Megf11	T	C	9: 64,686,473	F613L	probably damaging	Het
Misp	G	A	10: 79,827,143	V465M	probably damaging	Het
Ms4a6c	T	A	19: 11,478,173	D115E	probably benign	Het
Msh6	A	G	17: 87,986,069	T751A	probably benign	Het
Ntrk3	T	A	7: 78,451,899	T429S	probably benign	Het
Olfr128	T	A	17: 37,923,611	M15K	probably benign	Het
Olfr857	T	C	9: 19,713,006	Y60H	probably damaging	Het
Oplah	A	C	15: 76,296,637	*1289G	probably null	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhga6	A	T	18: 37,708,528	T434S	probably benign	Het
Pign	A	G	1: 105,646,869		probably benign	Het
Poteg	A	T	8: 27,447,968	I51F	probably benign	Het
Prrc2c	C	A	1: 162,699,031	V204F	unknown	Het
Rhbdd3	T	C	11: 5,105,710	S325P	probably damaging	Het
Rit1	T	A	3: 88,729,137	L116Q	probably damaging	Het
Rpl22	T	A	4: 152,325,802		probably benign	Het
Rttn	A	G	18: 89,090,436	E1588G	possibly damaging	Het
Sardh	A	G	2: 27,220,723	F577S	probably damaging	Het
Slc12a7	T	A	13: 73,785,139	D105E	probably benign	Het
Slc22a23	T	A	13: 34,305,257	D215V	probably damaging	Het
Slc4a8	C	A	15: 100,795,887	P438T	probably damaging	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Stk19	C	T	17: 34,820,562		probably benign	Het
Stx5a	T	C	19: 8,748,465	I143T	probably damaging	Het
Tep1	T	C	14: 50,829,882	H2232R	possibly damaging	Het
Ttc21b	A	G	2: 66,236,235	I358T	probably benign	Het
Tuba8	A	G	6: 121,225,904	D392G	possibly damaging	Het
Vmn1r1	G	A	1: 182,157,407	P231L	probably damaging	Het
Zfp330	A	G	8: 82,767,312	W107R	probably damaging	Het
Zfp715	T	A	7: 43,299,692	Q281H	possibly damaging	Het
Zfp9	T	C	6: 118,465,039	T221A	probably damaging	Het
Zgpat	T	C	2: 181,365,627		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTCACTGTATCAATCCCACAGC -3'
(R):5'- ACTTTCTGGGAGGTAAGGTCC -3'

Sequencing Primer
(F):5'- TGTATCAATCCCACAGCACCAGTG -3'
(R):5'- AGGTAAGGTCCTCCTCCAGAG -3'

Posted On

2016-10-26