Mutagenetix > Incidental Mutation

Incidental Mutation 'R8876:Arhgef19'

676566

Institutional Source

Beutler Lab

Gene Symbol

Arhgef19

Ensembl Gene

ENSMUSG00000028919

Gene Name

Rho guanine nucleotide exchange factor 19

Synonyms

WGEF, 6430573B13Rik

MMRRC Submission

068688-MU

Accession Numbers

Essential gene?

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

Stock #

R8876 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140966810-140984875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140975193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 304 (A304S)

Ref Sequence

ENSEMBL: ENSMUSP00000006618 (fasta)

Gene Model

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

AlphaFold

Q8BWA8

Predicted Effect

probably benign
Transcript: ENSMUST00000006618
AA Change: A304S

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000006618
Gene: ENSMUSG00000028919
AA Change: A304S

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 damaging
Transcript: ENSMUST00000147903
AA Change: A146S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120088
Gene: ENSMUSG00000028919
AA Change: A146S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	C	2: 93,668,403 (GRCm39)	L356R	probably damaging	Het
Acvr1	A	T	2: 58,338,422 (GRCm39)	D433E	possibly damaging	Het
Aldh3b1	A	G	19: 3,971,502 (GRCm39)	L122P	probably damaging	Het
Ap3b1	T	G	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Apbb2	A	G	5: 66,609,000 (GRCm39)	S216P	probably benign	Het
Arap3	T	A	18: 38,130,077 (GRCm39)	H28L	possibly damaging	Het
Arhgap44	C	T	11: 64,898,896 (GRCm39)	M760I	possibly damaging	Het
Atpaf1	T	C	4: 115,645,548 (GRCm39)	I139T	possibly damaging	Het
BC024139	G	T	15: 76,010,320 (GRCm39)	T62K	possibly damaging	Het
Bmal2	G	A	6: 146,723,492 (GRCm39)	G274D	probably benign	Het
Capn5	T	C	7: 97,780,902 (GRCm39)	T292A	probably benign	Het
Card19	T	C	13: 49,358,814 (GRCm39)	N53S	possibly damaging	Het
Cep97	A	G	16: 55,742,467 (GRCm39)	V232A	possibly damaging	Het
Cfap298	A	G	16: 90,724,281 (GRCm39)	I164T	possibly damaging	Het
Clca3a2	G	T	3: 144,777,360 (GRCm39)	T837K	probably benign	Het
Col8a2	G	C	4: 126,204,647 (GRCm39)	G219A	probably damaging	Het
Ctu2	T	C	8: 123,206,951 (GRCm39)	S365P		Het
Dnah2	T	C	11: 69,382,348 (GRCm39)	D1254G	probably damaging	Het
Dscam	A	G	16: 96,420,828 (GRCm39)	L1686S	probably damaging	Het
Fgr	A	G	4: 132,726,071 (GRCm39)		probably benign	Het
Frmd4a	T	A	2: 4,606,111 (GRCm39)	S612T	probably damaging	Het
Gadd45gip1	T	C	8: 85,560,748 (GRCm39)	I121T	probably damaging	Het
Gapvd1	A	G	2: 34,568,560 (GRCm39)	V1353A	possibly damaging	Het
Gdf3	G	A	6: 122,583,942 (GRCm39)	P142S	probably damaging	Het
Gm19965	G	A	1: 116,749,776 (GRCm39)	G486R	unknown	Het
Gpatch2l	T	C	12: 86,308,405 (GRCm39)	L307P	probably damaging	Het
Grm3	T	C	5: 9,561,580 (GRCm39)	K757E	probably damaging	Het
Inppl1	T	A	7: 101,472,750 (GRCm39)	H1218L	possibly damaging	Het
Jag2	T	C	12: 112,873,257 (GRCm39)	I1055V	probably benign	Het
Krtap9-5	G	T	11: 99,840,340 (GRCm39)	C347F	unknown	Het
Magi2	T	A	5: 20,856,190 (GRCm39)	Y1050*	probably null	Het
Myrf	A	G	19: 10,206,378 (GRCm39)		probably benign	Het
Ntpcr	T	G	8: 126,464,785 (GRCm39)		probably benign	Het
Or13a19	T	C	7: 139,902,716 (GRCm39)	Y35H	probably damaging	Het
Or1p1b	C	T	11: 74,130,846 (GRCm39)	T152I	probably damaging	Het
Or2y1c	T	C	11: 49,361,386 (GRCm39)	M136T	probably damaging	Het
Palmd	T	G	3: 116,720,899 (GRCm39)	D145A	probably damaging	Het
Pdcd1	A	G	1: 93,980,155 (GRCm39)	S21P	probably benign	Het
Pkn1	T	C	8: 84,398,879 (GRCm39)	T696A	possibly damaging	Het
Pnpt1	T	A	11: 29,096,769 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 110,049,146 (GRCm39)	I273F	probably damaging	Het
Skic3	T	G	13: 76,323,403 (GRCm39)	D1382E	probably benign	Het
Slc16a4	A	T	3: 107,208,101 (GRCm39)	N204Y	probably benign	Het
Slc38a1	T	C	15: 96,514,091 (GRCm39)	I44V	possibly damaging	Het
Smpdl3a	T	C	10: 57,685,166 (GRCm39)	V312A	probably damaging	Het
Ston1	A	G	17: 88,942,600 (GRCm39)	Y2C	probably benign	Het
Syde1	A	T	10: 78,425,325 (GRCm39)	Y229N	probably damaging	Het
Ttc6	T	A	12: 57,784,489 (GRCm39)	C1853S	possibly damaging	Het
Ttn	A	G	2: 76,609,249 (GRCm39)	I17650T	possibly damaging	Het
Upf1	T	C	8: 70,796,918 (GRCm39)	E105G	possibly damaging	Het
Wrn	A	G	8: 33,814,422 (GRCm39)	W341R	probably benign	Het
Xndc1	C	T	7: 101,729,754 (GRCm39)	P267L	probably benign	Het
Zbtb26	T	C	2: 37,326,896 (GRCm39)	T47A	probably benign	Het
Zc3h10	A	T	10: 128,380,163 (GRCm39)	V398E	probably damaging	Het
Zfp652	G	T	11: 95,639,921 (GRCm39)		probably benign	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
R8531:Arhgef19	UTSW	4	140,976,903 (GRCm39)	missense	possibly damaging	0.82
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'- ACGTTGGAAACTGGGGATCC -3'
(R):5'- ACGTTGACAGCCCCTTATTC -3'

Sequencing Primer
(F):5'- AGAGAATtgcactcccag -3'
(R):5'- AGCTTGCAGTCGCGCAG -3'

Posted On

2021-07-15