Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00576:Arhgap42'

12467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap42

Ensembl Gene

ENSMUSG00000050730

Gene Name

Rho GTPase activating protein 42

Synonyms

9030420J04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

IGL00576

Quality Score

Status

Chromosome

Chromosomal Location

8994330-9239106 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 8997621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 835 (E835*)

Ref Sequence

ENSEMBL: ENSMUSP00000091419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093893]

AlphaFold

B2RQE8

Predicted Effect

probably null
Transcript: ENSMUST00000093893
AA Change: E835*

SMART Domains

Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: E835*

Domain	Start	End	E-Value	Type
Pfam:BAR_3	6	132	4.4e-36	PFAM
Pfam:BAR_3	125	215	8.9e-29	PFAM
PH	232	342	5.5e-8	SMART
RhoGAP	358	535	1.4e-55	SMART
low complexity region	583	596	N/A	INTRINSIC
low complexity region	599	616	N/A	INTRINSIC
Blast:RhoGAP	617	691	2e-37	BLAST
low complexity region	692	711	N/A	INTRINSIC
SH3	786	840	7.4e-12	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak8	T	C	2: 28,632,729 (GRCm39)	L316P	probably damaging	Het
Ampd3	C	T	7: 110,388,028 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,254,639 (GRCm39)	V162M	probably damaging	Het
Atp2a2	C	T	5: 122,596,146 (GRCm39)		probably null	Het
Bmper	A	G	9: 23,317,899 (GRCm39)	D506G	probably damaging	Het
Clca4b	A	G	3: 144,631,108 (GRCm39)	F251L	probably damaging	Het
Col12a1	T	C	9: 79,554,934 (GRCm39)	D2048G	probably damaging	Het
Dnhd1	G	A	7: 105,341,882 (GRCm39)	S1227N	probably damaging	Het
Dpp8	T	A	9: 64,951,111 (GRCm39)	H182Q	probably benign	Het
Drosha	A	G	15: 12,883,280 (GRCm39)	K798E	probably damaging	Het
Gbp8	A	G	5: 105,165,754 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,806,092 (GRCm39)	I1843T	probably damaging	Het
Kansl1l	T	C	1: 66,763,733 (GRCm39)	N772S	possibly damaging	Het
Lrrc37	A	G	11: 103,508,212 (GRCm39)		probably benign	Het
Ndst2	T	C	14: 20,774,552 (GRCm39)	R835G	probably benign	Het
Psme4	T	C	11: 30,773,145 (GRCm39)	V836A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Reln	T	C	5: 22,359,948 (GRCm39)	H192R	probably benign	Het
Tcf20	A	G	15: 82,740,276 (GRCm39)	F392L	probably damaging	Het
Ttc21a	T	C	9: 119,794,885 (GRCm39)	F1024L	probably damaging	Het
Vezf1	T	A	11: 87,964,470 (GRCm39)	C19*	probably null	Het
Wdr47	A	G	3: 108,526,050 (GRCm39)	N191S	probably benign	Het
Zfp7	T	G	15: 76,775,101 (GRCm39)		probably benign	Het
Zfp933	A	T	4: 147,910,778 (GRCm39)	C273S	probably damaging	Het

Other mutations in Arhgap42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Arhgap42	APN	9	9,006,344 (GRCm39)	missense	probably damaging	1.00
IGL01693:Arhgap42	APN	9	9,006,507 (GRCm39)	missense	probably damaging	1.00
IGL01724:Arhgap42	APN	9	8,998,254 (GRCm39)	splice site	probably benign
IGL02142:Arhgap42	APN	9	9,155,360 (GRCm39)	missense	probably damaging	1.00
IGL02378:Arhgap42	APN	9	9,035,584 (GRCm39)	missense	possibly damaging	0.94
IGL02932:Arhgap42	APN	9	9,115,709 (GRCm39)	missense	probably damaging	0.98
IGL02992:Arhgap42	APN	9	8,998,249 (GRCm39)	splice site	probably benign
IGL03149:Arhgap42	APN	9	9,008,085 (GRCm39)	missense	possibly damaging	0.71
R0096:Arhgap42	UTSW	9	9,009,314 (GRCm39)	missense	probably damaging	1.00
R0096:Arhgap42	UTSW	9	9,009,314 (GRCm39)	missense	probably damaging	1.00
R0417:Arhgap42	UTSW	9	9,180,034 (GRCm39)	missense	possibly damaging	0.55
R0513:Arhgap42	UTSW	9	9,005,766 (GRCm39)	missense	probably benign	0.07
R1212:Arhgap42	UTSW	9	9,015,313 (GRCm39)	missense	probably damaging	1.00
R1493:Arhgap42	UTSW	9	9,030,798 (GRCm39)	missense	probably benign	0.01
R1499:Arhgap42	UTSW	9	9,033,587 (GRCm39)	splice site	probably benign
R1674:Arhgap42	UTSW	9	9,006,585 (GRCm39)	missense	probably damaging	0.99
R1687:Arhgap42	UTSW	9	9,035,538 (GRCm39)	missense	probably benign	0.33
R1808:Arhgap42	UTSW	9	9,180,051 (GRCm39)	missense	probably damaging	0.99
R1983:Arhgap42	UTSW	9	9,017,018 (GRCm39)	missense	probably damaging	1.00
R2069:Arhgap42	UTSW	9	9,035,601 (GRCm39)	missense	probably damaging	1.00
R2276:Arhgap42	UTSW	9	9,035,512 (GRCm39)	missense	probably benign
R2279:Arhgap42	UTSW	9	9,035,512 (GRCm39)	missense	probably benign
R2295:Arhgap42	UTSW	9	9,115,745 (GRCm39)	missense	probably damaging	0.99
R3807:Arhgap42	UTSW	9	9,008,034 (GRCm39)	missense	probably damaging	0.98
R4133:Arhgap42	UTSW	9	9,011,300 (GRCm39)	intron	probably benign
R4304:Arhgap42	UTSW	9	9,006,489 (GRCm39)	missense	probably benign
R4530:Arhgap42	UTSW	9	9,011,433 (GRCm39)	missense	probably damaging	1.00
R4532:Arhgap42	UTSW	9	9,011,433 (GRCm39)	missense	probably damaging	1.00
R4786:Arhgap42	UTSW	9	9,238,703 (GRCm39)	nonsense	probably null
R4807:Arhgap42	UTSW	9	9,046,629 (GRCm39)	missense	possibly damaging	0.70
R4809:Arhgap42	UTSW	9	9,180,118 (GRCm39)	missense	probably damaging	0.99
R4999:Arhgap42	UTSW	9	9,009,435 (GRCm39)	missense	probably damaging	1.00
R5160:Arhgap42	UTSW	9	8,997,656 (GRCm39)	missense	probably damaging	0.97
R5737:Arhgap42	UTSW	9	9,059,069 (GRCm39)	missense	probably damaging	0.98
R5840:Arhgap42	UTSW	9	9,046,518 (GRCm39)	missense	possibly damaging	0.94
R6172:Arhgap42	UTSW	9	9,148,246 (GRCm39)	missense	possibly damaging	0.71
R6456:Arhgap42	UTSW	9	9,005,823 (GRCm39)	missense	probably benign
R6782:Arhgap42	UTSW	9	9,115,721 (GRCm39)	missense	probably damaging	0.99
R6846:Arhgap42	UTSW	9	9,006,446 (GRCm39)	missense	probably damaging	1.00
R7489:Arhgap42	UTSW	9	9,006,359 (GRCm39)	missense	probably benign
R7560:Arhgap42	UTSW	9	9,035,532 (GRCm39)	missense	probably benign	0.00
R8025:Arhgap42	UTSW	9	9,005,823 (GRCm39)	missense	probably benign
R8113:Arhgap42	UTSW	9	9,011,434 (GRCm39)	missense	probably damaging	1.00
R8303:Arhgap42	UTSW	9	9,009,327 (GRCm39)	missense	probably damaging	1.00
R8357:Arhgap42	UTSW	9	9,016,221 (GRCm39)	missense	probably benign	0.40
R8457:Arhgap42	UTSW	9	9,016,221 (GRCm39)	missense	probably benign	0.40
R9131:Arhgap42	UTSW	9	9,011,364 (GRCm39)	missense	probably damaging	1.00
R9132:Arhgap42	UTSW	9	9,011,419 (GRCm39)	missense	probably damaging	1.00
R9266:Arhgap42	UTSW	9	9,006,386 (GRCm39)	missense	probably benign	0.03
R9570:Arhgap42	UTSW	9	9,148,209 (GRCm39)	missense
R9780:Arhgap42	UTSW	9	9,059,102 (GRCm39)	missense	probably benign	0.36
X0066:Arhgap42	UTSW	9	9,115,705 (GRCm39)	missense	probably damaging	1.00
X0066:Arhgap42	UTSW	9	9,115,701 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06