Mutagenetix > Incidental Mutation

Incidental Mutation 'R6572:Arhgap18'

543574

Institutional Source

Beutler Lab

Gene Symbol

Arhgap18

Ensembl Gene

ENSMUSG00000039031

Gene Name

Rho GTPase activating protein 18

Synonyms

4833419J07Rik

MMRRC Submission

044696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6572 (G1)

Quality Score

71.0074

Status

Validated

Chromosome

Chromosomal Location

26648363-26794644 bp(+) (GRCm39)

Type of Mutation

splice site (288 bp from exon)

DNA Base Change (assembly)

A to G at 26722412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039557] [ENSMUST00000135866] [ENSMUST00000176060]

AlphaFold

Q8K0Q5

Predicted Effect

probably null
Transcript: ENSMUST00000039557

SMART Domains

Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031

Domain	Start	End	E-Value	Type
low complexity region	100	114	N/A	INTRINSIC
RhoGAP	340	520	8.99e-42	SMART
coiled coil region	535	557	N/A	INTRINSIC
Blast:RhoGAP	572	613	1e-13	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000135866

SMART Domains

Protein: ENSMUSP00000135783
Gene: ENSMUSG00000039031

Domain	Start	End	E-Value	Type
low complexity region	28	42	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176060

SMART Domains

Protein: ENSMUSP00000135030
Gene: ENSMUSG00000039031

Domain	Start	End	E-Value	Type
low complexity region	28	42	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,425,961 (GRCm39)	Q34*	probably null	Het
Adamts3	T	A	5: 90,009,468 (GRCm39)	H65L	possibly damaging	Het
Ago2	A	G	15: 72,998,826 (GRCm39)	V257A	probably benign	Het
Ahnak	A	G	19: 8,985,340 (GRCm39)	K2208R	probably damaging	Het
Apc2	C	T	10: 80,147,613 (GRCm39)	S860L	probably damaging	Het
Arhgap33	T	C	7: 30,226,635 (GRCm39)	E524G	probably damaging	Het
Ascc3	C	T	10: 50,566,343 (GRCm39)	Q763*	probably null	Het
Atg2a	T	C	19: 6,304,695 (GRCm39)	L1184P	probably damaging	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Btbd17	A	T	11: 114,683,046 (GRCm39)	L222Q	probably damaging	Het
Chst13	G	T	6: 90,286,588 (GRCm39)	R125S	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Cracr2a	T	C	6: 127,585,715 (GRCm39)		probably null	Het
Dchs1	T	A	7: 105,408,013 (GRCm39)	T1940S	possibly damaging	Het
Ddit4l	G	T	3: 137,332,111 (GRCm39)	R159L	probably benign	Het
Dock3	A	G	9: 106,866,674 (GRCm39)	Y679H	probably damaging	Het
Dyrk4	T	G	6: 126,874,201 (GRCm39)	I130L	probably benign	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Ephb1	A	G	9: 101,944,097 (GRCm39)	F312L	probably benign	Het
Fndc9	A	T	11: 46,128,708 (GRCm39)	I76F	probably damaging	Het
Frk	G	A	10: 34,459,963 (GRCm39)	R186K	probably benign	Het
Gpatch3	G	T	4: 133,302,191 (GRCm39)	G41C	probably damaging	Het
Greb1l	T	A	18: 10,522,131 (GRCm39)	H633Q	probably benign	Het
Gstt4	T	A	10: 75,650,954 (GRCm39)	T223S	probably damaging	Het
Hpd	C	T	5: 123,318,739 (GRCm39)	E60K	probably benign	Het
Inpp5d	C	T	1: 87,623,118 (GRCm39)	P403S	probably damaging	Het
Klk1b9	T	A	7: 43,629,159 (GRCm39)	I189K	probably benign	Het
Kmt2e	A	T	5: 23,702,579 (GRCm39)	H239L	possibly damaging	Het
Lrriq3	A	G	3: 154,887,312 (GRCm39)	D344G	probably benign	Het
Neb	A	G	2: 52,168,859 (GRCm39)	I1892T	probably damaging	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nipal3	A	T	4: 135,174,564 (GRCm39)	S396T	probably benign	Het
Or1e35	A	G	11: 73,797,629 (GRCm39)	S230P	possibly damaging	Het
Or51q1c	T	A	7: 103,648,391 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,481,396 (GRCm39)	V264D	probably damaging	Het
Pigs	A	G	11: 78,230,190 (GRCm39)	Y319C	probably damaging	Het
Pkd2l2	T	C	18: 34,571,824 (GRCm39)	Y608H	probably damaging	Het
Ppard	G	T	17: 28,516,093 (GRCm39)	E106*	probably null	Het
Pramel11	C	T	4: 143,621,943 (GRCm39)	V471I	possibly damaging	Het
Pramel16	A	G	4: 143,676,262 (GRCm39)	S281P	probably benign	Het
Psenen	T	C	7: 30,261,773 (GRCm39)	T48A	probably benign	Het
Ralgps2	A	T	1: 156,651,620 (GRCm39)		probably null	Het
Ripk4	T	A	16: 97,547,105 (GRCm39)	R323*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Scgb2b24	T	A	7: 33,437,902 (GRCm39)	E68D	probably damaging	Het
Setx	A	G	2: 29,063,706 (GRCm39)	D2334G	possibly damaging	Het
Sh3bp4	A	G	1: 89,072,643 (GRCm39)	D497G	possibly damaging	Het
Smarca2	A	T	19: 26,656,573 (GRCm39)	I850F	possibly damaging	Het
Smyd1	A	G	6: 71,202,396 (GRCm39)	Y270H	probably damaging	Het
Spidr	T	A	16: 15,730,380 (GRCm39)		probably null	Het
Srms	T	C	2: 180,854,450 (GRCm39)	D39G	probably benign	Het
Trpc2	T	A	7: 101,739,213 (GRCm39)	I528N	probably damaging	Het
Tshr	A	G	12: 91,505,134 (GRCm39)	I691V	probably benign	Het
Urb1	A	C	16: 90,584,302 (GRCm39)	V560G	probably benign	Het
Usp37	A	G	1: 74,534,941 (GRCm39)	S2P	possibly damaging	Het
Vmn1r60	G	A	7: 5,547,599 (GRCm39)	S167F	probably benign	Het
Vmn2r89	G	A	14: 51,693,450 (GRCm39)	V267I	probably damaging	Het
Washc3	T	A	10: 88,049,568 (GRCm39)	D63E	probably benign	Het
Wdr89	A	G	12: 75,680,159 (GRCm39)	S32P	probably damaging	Het
Zfp157	T	C	5: 138,455,313 (GRCm39)	S504P	possibly damaging	Het

Other mutations in Arhgap18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Arhgap18	APN	10	26,756,744 (GRCm39)	missense	possibly damaging	0.75
IGL02393:Arhgap18	APN	10	26,753,179 (GRCm39)	missense	probably benign	0.07
IGL03368:Arhgap18	APN	10	26,648,689 (GRCm39)	missense	possibly damaging	0.60
Half_pint	UTSW	10	26,648,694 (GRCm39)	critical splice donor site	probably null
R0698:Arhgap18	UTSW	10	26,788,625 (GRCm39)	missense	probably damaging	1.00
R1456:Arhgap18	UTSW	10	26,792,436 (GRCm39)	missense	probably benign	0.29
R1532:Arhgap18	UTSW	10	26,736,718 (GRCm39)	missense	possibly damaging	0.69
R1768:Arhgap18	UTSW	10	26,763,858 (GRCm39)	missense	probably damaging	1.00
R1768:Arhgap18	UTSW	10	26,763,857 (GRCm39)	missense	probably damaging	1.00
R1793:Arhgap18	UTSW	10	26,736,732 (GRCm39)	unclassified	probably benign
R1867:Arhgap18	UTSW	10	26,722,026 (GRCm39)	missense	probably damaging	0.99
R2020:Arhgap18	UTSW	10	26,730,900 (GRCm39)	missense	probably benign
R2049:Arhgap18	UTSW	10	26,725,938 (GRCm39)	missense	probably benign	0.00
R2056:Arhgap18	UTSW	10	26,730,904 (GRCm39)	missense	probably benign	0.03
R2058:Arhgap18	UTSW	10	26,730,904 (GRCm39)	missense	probably benign	0.03
R2986:Arhgap18	UTSW	10	26,730,903 (GRCm39)	missense	probably benign	0.00
R3027:Arhgap18	UTSW	10	26,722,092 (GRCm39)	missense	probably benign
R5103:Arhgap18	UTSW	10	26,745,978 (GRCm39)	missense	probably damaging	1.00
R5468:Arhgap18	UTSW	10	26,788,667 (GRCm39)	missense	probably damaging	0.99
R5532:Arhgap18	UTSW	10	26,722,104 (GRCm39)	missense	possibly damaging	0.56
R5710:Arhgap18	UTSW	10	26,736,729 (GRCm39)	splice site	probably null
R6019:Arhgap18	UTSW	10	26,736,646 (GRCm39)	missense	probably damaging	0.98
R6190:Arhgap18	UTSW	10	26,722,031 (GRCm39)	start codon destroyed	probably null	0.22
R6346:Arhgap18	UTSW	10	26,722,061 (GRCm39)	missense	probably damaging	1.00
R6438:Arhgap18	UTSW	10	26,648,694 (GRCm39)	critical splice donor site	probably null
R6799:Arhgap18	UTSW	10	26,725,917 (GRCm39)	missense	possibly damaging	0.57
R6844:Arhgap18	UTSW	10	26,648,682 (GRCm39)	missense	probably benign	0.04
R7051:Arhgap18	UTSW	10	26,725,917 (GRCm39)	missense	possibly damaging	0.57
R7084:Arhgap18	UTSW	10	26,748,734 (GRCm39)	missense	possibly damaging	0.77
R7727:Arhgap18	UTSW	10	26,746,007 (GRCm39)	missense	possibly damaging	0.83
R8046:Arhgap18	UTSW	10	26,763,853 (GRCm39)	missense	probably damaging	0.98
R8252:Arhgap18	UTSW	10	26,730,932 (GRCm39)	missense	probably benign	0.00
R8392:Arhgap18	UTSW	10	26,721,936 (GRCm39)	missense	probably benign	0.38
R8485:Arhgap18	UTSW	10	26,722,104 (GRCm39)	missense	probably benign	0.05
R9132:Arhgap18	UTSW	10	26,730,886 (GRCm39)	missense	probably benign
R9159:Arhgap18	UTSW	10	26,730,886 (GRCm39)	missense	probably benign
R9245:Arhgap18	UTSW	10	26,722,107 (GRCm39)	missense	possibly damaging	0.71
R9375:Arhgap18	UTSW	10	26,648,610 (GRCm39)	missense	probably damaging	1.00
R9597:Arhgap18	UTSW	10	26,788,655 (GRCm39)	missense	probably damaging	1.00
Z1088:Arhgap18	UTSW	10	26,726,000 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CACTGCTGGTTGCCTTTGAAC -3'
(R):5'- CCCTCGAATGTTGAAAAGACTAC -3'

Sequencing Primer
(F):5'- ACTGCTGGTTGCCTTTGAACTTAAAG -3'
(R):5'- AACGTATTGGCTCTCCCT -3'

Posted On

2019-03-08