Mutagenetix > Incidental Mutation

Incidental Mutation 'R8531:Arhgef19'

659038

Institutional Source

Beutler Lab

Gene Symbol

Arhgef19

Ensembl Gene

ENSMUSG00000028919

Gene Name

Rho guanine nucleotide exchange factor 19

Synonyms

WGEF, 6430573B13Rik

MMRRC Submission

068501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R8531 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140966810-140984875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140976903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 493 (I493T)

Ref Sequence

ENSEMBL: ENSMUSP00000006618 (fasta)

Gene Model

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

AlphaFold

Q8BWA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006618
AA Change: I493T

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006618
Gene: ENSMUSG00000028919
AA Change: I493T

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 benign
Transcript: ENSMUST00000125392

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000138096

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,622 (GRCm39)	R1506S	probably benign	Het
Acox2	T	C	14: 8,247,960 (GRCm38)	T441A	probably damaging	Het
Adam6a	A	G	12: 113,508,917 (GRCm39)	E430G	probably damaging	Het
Afg3l2	T	C	18: 67,540,439 (GRCm39)	E690G	probably damaging	Het
Alb	A	G	5: 90,611,873 (GRCm39)	I101V	probably benign	Het
Btnl2	T	C	17: 34,577,028 (GRCm39)	M61T	probably benign	Het
Cyp2d11	A	G	15: 82,273,429 (GRCm39)	Y481H	probably benign	Het
Dennd4c	T	C	4: 86,744,319 (GRCm39)		probably null	Het
Dhx9	C	A	1: 153,334,182 (GRCm39)	V993F	possibly damaging	Het
Dlk1	A	G	12: 109,424,066 (GRCm39)	Q110R	probably null	Het
Dmp1	A	C	5: 104,360,269 (GRCm39)	D315A	probably damaging	Het
Dnah3	T	C	7: 119,550,591 (GRCm39)	K3243E	probably damaging	Het
Dsc3	T	C	18: 20,101,449 (GRCm39)	N648S	probably benign	Het
Dsc3	C	T	18: 20,114,274 (GRCm39)	D327N	probably damaging	Het
Egr4	T	C	6: 85,489,106 (GRCm39)	D318G	probably damaging	Het
Fiz1	A	T	7: 5,012,163 (GRCm39)	C118*	probably null	Het
Flad1	A	C	3: 89,310,517 (GRCm39)	Y479D	probably damaging	Het
Flnb	T	C	14: 7,929,939 (GRCm38)	F2023S	probably damaging	Het
Glp1r	T	C	17: 31,143,531 (GRCm39)	L189P	probably damaging	Het
Grm5	A	T	7: 87,779,724 (GRCm39)	T1055S	probably benign	Het
Gucy1a1	A	G	3: 82,018,468 (GRCm39)	I123T	probably benign	Het
Ifnar1	T	A	16: 91,292,344 (GRCm39)	C199*	probably null	Het
Lepr	A	T	4: 101,622,612 (GRCm39)	Y464F	probably damaging	Het
Mamdc4	G	T	2: 25,457,730 (GRCm39)	Q452K	possibly damaging	Het
Map2k6	A	G	11: 110,290,175 (GRCm39)		probably benign	Het
Mphosph10	T	C	7: 64,034,076 (GRCm39)	I429V	possibly damaging	Het
Neb	T	A	2: 52,181,074 (GRCm39)	M1178L	possibly damaging	Het
Nherf4	T	C	9: 44,159,670 (GRCm39)	E442G	probably damaging	Het
Npc2	C	A	12: 84,807,612 (GRCm39)	R82L	probably benign	Het
Olfm5	A	T	7: 103,803,029 (GRCm39)	M478K	probably benign	Het
Or5aq6	G	T	2: 86,923,670 (GRCm39)	Q24K	probably benign	Het
Or5k14	A	C	16: 58,693,016 (GRCm39)	L166V	probably damaging	Het
Osbpl9	T	C	4: 109,013,908 (GRCm39)	D62G	probably damaging	Het
Otog	C	T	7: 45,901,473 (GRCm39)	R391C	probably damaging	Het
Plppr4	T	C	3: 117,115,592 (GRCm39)	Y755C	probably damaging	Het
Pnpla8	T	A	12: 44,358,368 (GRCm39)	F708I	possibly damaging	Het
Pom121l12	A	T	11: 14,549,932 (GRCm39)	T213S	probably benign	Het
Pramel27	T	A	4: 143,579,601 (GRCm39)	D395E	probably benign	Het
Rabep1	T	C	11: 70,799,332 (GRCm39)	S278P	probably benign	Het
Rigi	A	G	4: 40,225,596 (GRCm39)		probably null	Het
Rnf213	C	G	11: 119,365,031 (GRCm39)	Q4563E	probably benign	Het
Rttn	C	A	18: 89,131,467 (GRCm39)	R1949S	probably benign	Het
Rwdd3	T	C	3: 120,952,788 (GRCm39)	I140V	probably benign	Het
Serpinb6a	A	T	13: 34,115,462 (GRCm39)	M53K	probably damaging	Het
Serpinb9g	A	T	13: 33,676,896 (GRCm39)	D226V	possibly damaging	Het
Serpind1	A	T	16: 17,160,847 (GRCm39)	Y459F	probably damaging	Het
Skor2	T	C	18: 76,946,569 (GRCm39)	V97A	unknown	Het
Slc26a4	C	T	12: 31,599,911 (GRCm39)		probably null	Het
Slc4a10	T	C	2: 62,097,851 (GRCm39)	Y517H	probably damaging	Het
Sphkap	A	G	1: 83,254,909 (GRCm39)	W947R	probably damaging	Het
Sult3a2	T	C	10: 33,653,239 (GRCm39)	D167G	probably damaging	Het
Supt16	A	T	14: 52,410,020 (GRCm39)	M729K	probably damaging	Het
Tmem176b	A	G	6: 48,811,538 (GRCm39)	I37T	possibly damaging	Het
Tmem259	A	G	10: 79,813,819 (GRCm39)	V423A	probably damaging	Het
Tmem62	G	T	2: 120,837,533 (GRCm39)	L483F	probably damaging	Het
Tnfrsf13b	T	C	11: 61,031,777 (GRCm39)		probably null	Het
Tut7	A	T	13: 59,937,074 (GRCm39)	I1191K	probably damaging	Het
Txk	C	A	5: 72,893,720 (GRCm39)	C20F	possibly damaging	Het
Ube2w	A	C	1: 16,672,542 (GRCm39)	N46K	probably benign	Het
Unc79	A	T	12: 103,013,922 (GRCm39)	H300L	probably damaging	Het
Unc79	T	A	12: 103,049,855 (GRCm39)	H920Q	probably benign	Het
Vmn1r16	A	G	6: 57,299,900 (GRCm39)	Y241H	probably damaging	Het
Vmn2r100	A	T	17: 19,742,459 (GRCm39)	I278F	possibly damaging	Het
Zfp260	T	A	7: 29,804,884 (GRCm39)	H261Q	probably damaging	Het

Other mutations in Arhgef19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Arhgef19	APN	4	140,976,294 (GRCm39)	unclassified	probably benign
IGL02037:Arhgef19	APN	4	140,973,707 (GRCm39)	missense	probably damaging	0.99
IGL03049:Arhgef19	APN	4	140,981,627 (GRCm39)	missense	probably damaging	0.98
IGL03071:Arhgef19	APN	4	140,976,313 (GRCm39)	missense	possibly damaging	0.88
IGL03098:Arhgef19	UTSW	4	140,974,879 (GRCm39)	missense	possibly damaging	0.85
R0271:Arhgef19	UTSW	4	140,977,918 (GRCm39)	missense	probably benign	0.00
R0319:Arhgef19	UTSW	4	140,983,710 (GRCm39)	missense	possibly damaging	0.63
R1572:Arhgef19	UTSW	4	140,982,065 (GRCm39)	missense	probably benign	0.10
R1633:Arhgef19	UTSW	4	140,965,871 (GRCm39)	unclassified	probably benign
R1735:Arhgef19	UTSW	4	140,976,929 (GRCm39)	missense	possibly damaging	0.55
R1752:Arhgef19	UTSW	4	140,978,354 (GRCm39)	missense	probably benign	0.27
R1823:Arhgef19	UTSW	4	140,976,457 (GRCm39)	missense	probably benign	0.01
R1889:Arhgef19	UTSW	4	140,976,624 (GRCm39)	missense	probably damaging	1.00
R2138:Arhgef19	UTSW	4	140,978,111 (GRCm39)	missense	probably damaging	1.00
R2280:Arhgef19	UTSW	4	140,973,827 (GRCm39)	missense	probably benign	0.14
R3430:Arhgef19	UTSW	4	140,984,111 (GRCm39)	missense	probably benign	0.03
R3954:Arhgef19	UTSW	4	140,983,645 (GRCm39)	missense	probably damaging	1.00
R4158:Arhgef19	UTSW	4	140,973,660 (GRCm39)	missense	possibly damaging	0.50
R4160:Arhgef19	UTSW	4	140,973,660 (GRCm39)	missense	possibly damaging	0.50
R4995:Arhgef19	UTSW	4	140,974,826 (GRCm39)	splice site	probably null
R5031:Arhgef19	UTSW	4	140,978,121 (GRCm39)	missense	probably damaging	0.98
R5782:Arhgef19	UTSW	4	140,983,623 (GRCm39)	missense	probably damaging	1.00
R5913:Arhgef19	UTSW	4	140,976,609 (GRCm39)	missense	probably benign	0.03
R7614:Arhgef19	UTSW	4	140,984,090 (GRCm39)	missense	possibly damaging	0.52
R8356:Arhgef19	UTSW	4	140,977,926 (GRCm39)	missense	probably benign	0.25
R8456:Arhgef19	UTSW	4	140,977,926 (GRCm39)	missense	probably benign	0.25
R8876:Arhgef19	UTSW	4	140,975,193 (GRCm39)	missense	probably benign	0.28
R8931:Arhgef19	UTSW	4	140,976,603 (GRCm39)	missense	probably damaging	0.98
R8947:Arhgef19	UTSW	4	140,973,618 (GRCm39)	missense	possibly damaging	0.48
R9019:Arhgef19	UTSW	4	140,973,738 (GRCm39)	missense	probably benign	0.29
R9036:Arhgef19	UTSW	4	140,976,549 (GRCm39)	missense	probably damaging	1.00
R9718:Arhgef19	UTSW	4	140,976,603 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAGTCTACCTGCCTTACGTCAC -3'
(R):5'- ACATGCTCGAAAGGCCACAG -3'

Sequencing Primer
(F):5'- CTGCTGTAGGAGGGGCTCTAC -3'
(R):5'- GGCCACAGACCATAGATTGCAG -3'

Posted On

2021-01-18