Mutagenetix > Incidental Mutation

Incidental Mutation 'R4995:Arhgef19'

446649

Institutional Source

Beutler Lab

Gene Symbol

Arhgef19

Ensembl Gene

ENSMUSG00000028919

Gene Name

Rho guanine nucleotide exchange factor (GEF) 19

Synonyms

6430573B13Rik, WGEF

MMRRC Submission

042589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R4995 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

141239499-141257564 bp(+) (GRCm38)

Type of Mutation

splice site (1103 bp from exon)

DNA Base Change (assembly)

T to A at 141247515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006618] [ENSMUST00000125392] [ENSMUST00000135623] [ENSMUST00000138096] [ENSMUST00000141834] [ENSMUST00000147903]

AlphaFold

Q8BWA8

Predicted Effect

probably benign
Transcript: ENSMUST00000006618

SMART Domains

Protein: ENSMUSP00000006618
Gene: ENSMUSG00000028919

Domain	Start	End	E-Value	Type
low complexity region	145	160	N/A	INTRINSIC
low complexity region	161	172	N/A	INTRINSIC
low complexity region	305	331	N/A	INTRINSIC
RhoGEF	380	559	5.51e-43	SMART
PH	593	706	8.86e-6	SMART
SH3	718	775	5.16e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000125392

Predicted Effect

probably null
Transcript: ENSMUST00000135623

SMART Domains

Protein: ENSMUSP00000119846
Gene: ENSMUSG00000028919

Domain	Start	End	E-Value	Type
low complexity region	145	160	N/A	INTRINSIC
low complexity region	161	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000138096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140536

SMART Domains

Protein: ENSMUSP00000114784
Gene: ENSMUSG00000028919

Domain	Start	End	E-Value	Type
low complexity region	145	160	N/A	INTRINSIC
low complexity region	161	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000141834

Predicted Effect

probably benign
Transcript: ENSMUST00000147903

SMART Domains

Protein: ENSMUSP00000120088
Gene: ENSMUSG00000028919

Domain	Start	End	E-Value	Type
low complexity region	147	173	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184162

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	A	2: 19,494,184 (GRCm38)	Q333*	probably null	Het
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Acvrl1	G	A	15: 101,135,860 (GRCm38)	R141H	probably benign	Het
Adprm	A	G	11: 67,041,610 (GRCm38)	F158L	possibly damaging	Het
Aldoart2	C	T	12: 55,566,253 (GRCm38)	T321M	probably benign	Het
Ap3m2	A	G	8: 22,803,776 (GRCm38)	V86A	probably benign	Het
Bcl2l12	T	G	7: 44,994,191 (GRCm38)		probably null	Het
Bptf	T	C	11: 107,054,565 (GRCm38)	Q2501R	probably damaging	Het
C230029F24Rik	A	T	1: 49,338,136 (GRCm38)		noncoding transcript	Het
C7	C	T	15: 5,049,592 (GRCm38)	G78D	probably damaging	Het
Caly	T	C	7: 140,070,625 (GRCm38)	T135A	probably benign	Het
Cbl	A	G	9: 44,153,811 (GRCm38)	M740T	possibly damaging	Het
Cbx4	A	G	11: 119,081,211 (GRCm38)	V446A	probably benign	Het
Celsr1	C	A	15: 85,937,911 (GRCm38)	R1735L	probably damaging	Het
Cep250	A	G	2: 155,988,316 (GRCm38)	D135G	probably damaging	Het
Cgn	T	C	3: 94,779,936 (GRCm38)	T19A	probably damaging	Het
Chic2	A	T	5: 75,044,204 (GRCm38)	V32D	probably damaging	Het
Cntln	A	G	4: 85,049,883 (GRCm38)	K780E	probably benign	Het
Col8a2	A	T	4: 126,310,788 (GRCm38)	D197V	probably damaging	Het
Crot	A	T	5: 8,974,000 (GRCm38)	V372E	probably damaging	Het
Cyb561d2	C	T	9: 107,541,548 (GRCm38)	V26M	probably damaging	Het
Ddx5	G	A	11: 106,785,236 (GRCm38)	T237I	probably damaging	Het
Dmxl2	G	T	9: 54,501,441 (GRCm38)		probably benign	Het
Dock8	T	A	19: 25,158,383 (GRCm38)	S1188R	probably benign	Het
Ehbp1	T	A	11: 22,101,073 (GRCm38)	H493L	probably damaging	Het
Eif5b	T	A	1: 38,051,711 (GRCm38)	*1217K	probably null	Het
Eprs1	A	G	1: 185,410,139 (GRCm38)		probably benign	Het
Etfdh	T	C	3: 79,605,788 (GRCm38)	D376G	probably benign	Het
Fam186a	T	C	15: 99,945,099 (GRCm38)	Q1088R	probably benign	Het
Fbxw16	G	T	9: 109,441,250 (GRCm38)	T141N	probably damaging	Het
Fgf11	G	A	11: 69,798,759 (GRCm38)	H138Y	probably damaging	Het
Htra3	T	C	5: 35,671,074 (GRCm38)	E154G	probably damaging	Het
Hydin	T	A	8: 110,569,642 (GRCm38)	V3601D	probably damaging	Het
Jup	G	T	11: 100,379,541 (GRCm38)	S380*	probably null	Het
Klrg1	T	A	6: 122,278,275 (GRCm38)	D66V	probably benign	Het
Llgl1	C	T	11: 60,709,724 (GRCm38)	A633V	probably benign	Het
Lmln	T	A	16: 33,074,097 (GRCm38)	Y203*	probably null	Het
Lrrc58	T	G	16: 37,877,056 (GRCm38)	C165G	probably benign	Het
Lss	T	C	10: 76,547,537 (GRCm38)	V557A	probably benign	Het
Mast4	T	C	13: 102,905,754 (GRCm38)		probably benign	Het
Med13l	C	A	5: 118,730,949 (GRCm38)	P754Q	possibly damaging	Het
Mga	C	T	2: 119,932,582 (GRCm38)	R1240*	probably null	Het
Mgat5b	T	A	11: 116,974,199 (GRCm38)		probably null	Het
Mtor	A	G	4: 148,525,752 (GRCm38)	D1572G	probably damaging	Het
Muc4	T	A	16: 32,754,214 (GRCm38)	S1363T	probably benign	Het
Muc4	T	A	16: 32,754,041 (GRCm38)	S1306T	probably benign	Het
Myo18b	A	G	5: 112,760,392 (GRCm38)	V2005A	probably damaging	Het
Myo1e	G	A	9: 70,353,272 (GRCm38)	D571N	probably benign	Het
Mypn	T	C	10: 63,119,968 (GRCm38)		probably null	Het
Ndufb10	T	C	17: 24,722,757 (GRCm38)		probably null	Het
Nelfb	G	T	2: 25,206,196 (GRCm38)	D300E	probably benign	Het
Nicol1	G	A	5: 33,984,926 (GRCm38)	R79H	probably damaging	Het
Odad2	G	A	18: 7,223,663 (GRCm38)	T460M	probably damaging	Het
Olfr625-ps1	T	A	7: 103,683,367 (GRCm38)	D206E	probably damaging	Het
Or2y1d	T	A	11: 49,430,655 (GRCm38)	Y60N	probably damaging	Het
Or4e5	A	T	14: 52,490,531 (GRCm38)	C61*	probably null	Het
Or52n2c	T	A	7: 104,925,735 (GRCm38)	T10S	probably benign	Het
Pcdha11	C	T	18: 37,011,027 (GRCm38)	T57M	probably benign	Het
Pkp1	A	T	1: 135,880,855 (GRCm38)	I458N	possibly damaging	Het
Prr12	T	A	7: 45,051,229 (GRCm38)		probably benign	Het
Prrc2c	A	T	1: 162,705,310 (GRCm38)		probably benign	Het
Psd4	T	C	2: 24,397,247 (GRCm38)	F397S	probably benign	Het
Pygm	T	C	19: 6,398,139 (GRCm38)	I737T	probably damaging	Het
Rfx1	T	A	8: 84,080,114 (GRCm38)		probably null	Het
Rsl1	A	G	13: 67,182,249 (GRCm38)	T254A	possibly damaging	Het
Sh3rf3	A	G	10: 59,086,824 (GRCm38)	Q574R	probably benign	Het
Spire1	T	C	18: 67,552,779 (GRCm38)		probably null	Het
St6galnac4	G	A	2: 32,594,063 (GRCm38)	G91D	probably damaging	Het
Sytl2	T	C	7: 90,382,257 (GRCm38)		probably benign	Het
Tbpl2	T	A	2: 24,093,860 (GRCm38)	K188N	possibly damaging	Het
Tenm3	A	T	8: 48,229,137 (GRCm38)	M2486K	possibly damaging	Het
Tgoln1	A	C	6: 72,616,140 (GRCm38)	V119G	possibly damaging	Het
Tpgs1	A	T	10: 79,669,491 (GRCm38)	N28Y	probably benign	Het
U2surp	A	C	9: 95,462,794 (GRCm38)		probably benign	Het
Vmn2r103	A	G	17: 19,773,511 (GRCm38)	H50R	probably benign	Het
Vmn2r19	A	G	6: 123,329,910 (GRCm38)	N459S	probably benign	Het
Vmn2r72	T	C	7: 85,738,485 (GRCm38)	S624G	probably damaging	Het
Vps13c	A	G	9: 67,919,321 (GRCm38)	T1415A	probably benign	Het
Vwa5b1	G	A	4: 138,608,843 (GRCm38)	P147S	probably damaging	Het

Other mutations in Arhgef19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Arhgef19	APN	4	141,248,983 (GRCm38)	unclassified	probably benign
IGL02037:Arhgef19	APN	4	141,246,396 (GRCm38)	missense	probably damaging	0.99
IGL03049:Arhgef19	APN	4	141,254,316 (GRCm38)	missense	probably damaging	0.98
IGL03071:Arhgef19	APN	4	141,249,002 (GRCm38)	missense	possibly damaging	0.88
IGL03098:Arhgef19	UTSW	4	141,247,568 (GRCm38)	missense	possibly damaging	0.85
R0271:Arhgef19	UTSW	4	141,250,607 (GRCm38)	missense	probably benign	0.00
R0319:Arhgef19	UTSW	4	141,256,399 (GRCm38)	missense	possibly damaging	0.63
R1572:Arhgef19	UTSW	4	141,254,754 (GRCm38)	missense	probably benign	0.10
R1633:Arhgef19	UTSW	4	141,238,560 (GRCm38)	unclassified	probably benign
R1735:Arhgef19	UTSW	4	141,249,618 (GRCm38)	missense	possibly damaging	0.55
R1752:Arhgef19	UTSW	4	141,251,043 (GRCm38)	missense	probably benign	0.27
R1823:Arhgef19	UTSW	4	141,249,146 (GRCm38)	missense	probably benign	0.01
R1889:Arhgef19	UTSW	4	141,249,313 (GRCm38)	missense	probably damaging	1.00
R2138:Arhgef19	UTSW	4	141,250,800 (GRCm38)	missense	probably damaging	1.00
R2280:Arhgef19	UTSW	4	141,246,516 (GRCm38)	missense	probably benign	0.14
R3430:Arhgef19	UTSW	4	141,256,800 (GRCm38)	missense	probably benign	0.03
R3954:Arhgef19	UTSW	4	141,256,334 (GRCm38)	missense	probably damaging	1.00
R4158:Arhgef19	UTSW	4	141,246,349 (GRCm38)	missense	possibly damaging	0.50
R4160:Arhgef19	UTSW	4	141,246,349 (GRCm38)	missense	possibly damaging	0.50
R5031:Arhgef19	UTSW	4	141,250,810 (GRCm38)	missense	probably damaging	0.98
R5782:Arhgef19	UTSW	4	141,256,312 (GRCm38)	missense	probably damaging	1.00
R5913:Arhgef19	UTSW	4	141,249,298 (GRCm38)	missense	probably benign	0.03
R7614:Arhgef19	UTSW	4	141,256,779 (GRCm38)	missense	possibly damaging	0.52
R8356:Arhgef19	UTSW	4	141,250,615 (GRCm38)	missense	probably benign	0.25
R8456:Arhgef19	UTSW	4	141,250,615 (GRCm38)	missense	probably benign	0.25
R8531:Arhgef19	UTSW	4	141,249,592 (GRCm38)	missense	possibly damaging	0.82
R8876:Arhgef19	UTSW	4	141,247,882 (GRCm38)	missense	probably benign	0.28
R8931:Arhgef19	UTSW	4	141,249,292 (GRCm38)	missense	probably damaging	0.98
R8947:Arhgef19	UTSW	4	141,246,307 (GRCm38)	missense	possibly damaging	0.48
R9019:Arhgef19	UTSW	4	141,246,427 (GRCm38)	missense	probably benign	0.29
R9036:Arhgef19	UTSW	4	141,249,238 (GRCm38)	missense	probably damaging	1.00
R9718:Arhgef19	UTSW	4	141,249,292 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGGTCTTCGGGTGATCAGC -3'
(R):5'- AAAGCGGGATCCCCAGTTTC -3'

Sequencing Primer
(F):5'- GGTGATCAGCCAGGTGC -3'
(R):5'- GGATCCCCAGTTTCCAACG -3'

Posted On

2016-12-08