Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03005:Arhgap19'

407531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap19

Ensembl Gene

ENSMUSG00000025154

Gene Name

Rho GTPase activating protein 19

Synonyms

4933411B03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03005

Quality Score

Status

Chromosome

Chromosomal Location

41755027-41790486 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 41772856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026150] [ENSMUST00000163265] [ENSMUST00000177495]

AlphaFold

Q8BRH3

Predicted Effect

probably benign
Transcript: ENSMUST00000026150

SMART Domains

Protein: ENSMUSP00000026150
Gene: ENSMUSG00000025154

Domain	Start	End	E-Value	Type
low complexity region	88	96	N/A	INTRINSIC
RhoGAP	119	305	8.26e-41	SMART
low complexity region	361	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163265

SMART Domains

Protein: ENSMUSP00000129586
Gene: ENSMUSG00000025154

Domain	Start	End	E-Value	Type
low complexity region	88	96	N/A	INTRINSIC
RhoGAP	119	305	8.26e-41	SMART
low complexity region	361	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176266

SMART Domains

Protein: ENSMUSP00000134829
Gene: ENSMUSG00000025154

Domain	Start	End	E-Value	Type
Blast:RhoGAP	2	120	2e-50	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177495

SMART Domains

Protein: ENSMUSP00000135293
Gene: ENSMUSG00000025154

Domain	Start	End	E-Value	Type
low complexity region	88	96	N/A	INTRINSIC
RhoGAP	119	305	8.26e-41	SMART
low complexity region	346	356	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele are viable with no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	A	T	1: 176,894,793 (GRCm39)	V268E	probably damaging	Het
Aoc1l1	T	A	6: 48,953,480 (GRCm39)	Y468*	probably null	Het
Apob	A	G	12: 8,043,059 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,660,632 (GRCm39)	L672P	probably damaging	Het
Cars1	A	G	7: 143,112,906 (GRCm39)	F774L	probably damaging	Het
Cd200r3	T	A	16: 44,773,973 (GRCm39)	S128R	probably damaging	Het
Chd9	A	G	8: 91,738,075 (GRCm39)	N1569S	probably damaging	Het
Chmp7	G	A	14: 69,957,277 (GRCm39)	R294C	probably damaging	Het
Col10a1	A	T	10: 34,271,734 (GRCm39)	I569F	probably damaging	Het
Cspg4	T	A	9: 56,795,772 (GRCm39)	V1169D	probably damaging	Het
Emg1	G	A	6: 124,681,557 (GRCm39)	T229I	probably damaging	Het
Fmo9	C	T	1: 166,502,088 (GRCm39)	S179N	probably benign	Het
Frem1	T	C	4: 82,912,371 (GRCm39)	Y667C	probably damaging	Het
Gpsm2	A	G	3: 108,594,322 (GRCm39)		probably benign	Het
Gsdma	A	T	11: 98,567,085 (GRCm39)	E395V	probably damaging	Het
Gsdmd	C	T	15: 75,739,015 (GRCm39)	T464M	possibly damaging	Het
Iqschfp	C	A	3: 68,526,010 (GRCm39)	Q395K	possibly damaging	Het
Lipo3	T	C	19: 33,763,136 (GRCm39)	I36V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,139 (GRCm39)	S199G	probably damaging	Het
Lypla1	C	T	1: 4,902,613 (GRCm39)		probably benign	Het
Mst1r	C	T	9: 107,791,748 (GRCm39)	Q809*	probably null	Het
Mtr	T	A	13: 12,250,335 (GRCm39)		probably benign	Het
Or4a39	G	A	2: 89,237,315 (GRCm39)	T36I	possibly damaging	Het
Pax7	T	A	4: 139,556,007 (GRCm39)	I156F	probably damaging	Het
Pcdhb8	T	A	18: 37,490,587 (GRCm39)	L755Q	probably damaging	Het
Pdzd2	G	A	15: 12,385,351 (GRCm39)	P1140S	probably damaging	Het
Pdzrn4	T	C	15: 92,668,272 (GRCm39)	L808P	probably damaging	Het
Pex1	G	T	5: 3,680,292 (GRCm39)	Q971H	probably null	Het
Pgap6	C	T	17: 26,337,911 (GRCm39)	L432F	probably benign	Het
Pld1	T	A	3: 28,141,402 (GRCm39)	V655E	possibly damaging	Het
Pnpla3	C	T	15: 84,058,469 (GRCm39)	R163W	probably damaging	Het
Rabgef1	T	C	5: 130,237,638 (GRCm39)	L237P	probably damaging	Het
Setbp1	A	T	18: 78,902,340 (GRCm39)	N442K	possibly damaging	Het
Sorl1	T	G	9: 41,968,621 (GRCm39)	D544A	probably damaging	Het
Spire2	C	A	8: 124,090,107 (GRCm39)	P490T	probably benign	Het
Zeb1	T	A	18: 5,767,150 (GRCm39)	S554T	probably benign	Het

Other mutations in Arhgap19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:Arhgap19	APN	19	41,775,016 (GRCm39)	missense	probably benign	0.09
IGL03077:Arhgap19	APN	19	41,769,760 (GRCm39)	missense	probably benign	0.01
R0367:Arhgap19	UTSW	19	41,790,417 (GRCm39)	missense	probably benign	0.00
R0380:Arhgap19	UTSW	19	41,761,576 (GRCm39)	splice site	probably benign
R0755:Arhgap19	UTSW	19	41,769,614 (GRCm39)	missense	probably damaging	1.00
R1622:Arhgap19	UTSW	19	41,790,412 (GRCm39)	missense	probably benign	0.01
R1738:Arhgap19	UTSW	19	41,772,820 (GRCm39)	missense	probably benign
R1858:Arhgap19	UTSW	19	41,767,592 (GRCm39)	missense	probably benign	0.10
R1980:Arhgap19	UTSW	19	41,776,784 (GRCm39)	missense	possibly damaging	0.65
R3749:Arhgap19	UTSW	19	41,762,518 (GRCm39)	missense	probably damaging	1.00
R4951:Arhgap19	UTSW	19	41,762,545 (GRCm39)	missense	probably benign	0.00
R5552:Arhgap19	UTSW	19	41,772,819 (GRCm39)	missense	probably benign	0.06
R5711:Arhgap19	UTSW	19	41,773,227 (GRCm39)	missense	possibly damaging	0.91
R6500:Arhgap19	UTSW	19	41,775,077 (GRCm39)	missense	probably damaging	1.00
R7476:Arhgap19	UTSW	19	41,770,802 (GRCm39)	missense	probably benign	0.09
R8356:Arhgap19	UTSW	19	41,762,615 (GRCm39)	missense	probably damaging	1.00
R9350:Arhgap19	UTSW	19	41,761,566 (GRCm39)	missense	probably benign	0.12

Posted On

2016-08-02