Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:Arhgap18'

433357

Institutional Source

Beutler Lab

Gene Symbol

Arhgap18

Ensembl Gene

ENSMUSG00000039031

Gene Name

Rho GTPase activating protein 18

Synonyms

4833419J07Rik

MMRRC Submission

043029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26648363-26794644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26788667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 593 (I593K)

Ref Sequence

ENSEMBL: ENSMUSP00000044834 (fasta)

Gene Model

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

AlphaFold

Q8K0Q5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039557
AA Change: I593K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031
AA Change: I593K

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

noncoding transcript
Transcript: ENSMUST00000142284

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,009,659 (GRCm39)	R181Q	probably damaging	Het
Abca13	T	A	11: 9,244,062 (GRCm39)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,036,443 (GRCm39)	I180N	probably benign	Het
Adam12	T	C	7: 133,577,202 (GRCm39)	D221G	probably damaging	Het
Adamts4	A	G	1: 171,080,178 (GRCm39)	T244A	probably benign	Het
Adrb2	A	T	18: 62,312,696 (GRCm39)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,355,847 (GRCm39)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,395,510 (GRCm39)	L662P	probably damaging	Het
Arsj	T	C	3: 126,232,037 (GRCm39)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,549,986 (GRCm39)		probably null	Het
C2cd2	C	T	16: 97,669,791 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,384,568 (GRCm39)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,109,290 (GRCm39)	L438V	probably benign	Het
Cfap74	A	T	4: 155,510,498 (GRCm39)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,633 (GRCm39)	I548T	probably damaging	Het
Cracd	A	T	5: 76,988,610 (GRCm39)		probably benign	Het
Dglucy	A	G	12: 100,816,594 (GRCm39)	N382S	probably benign	Het
Dnah10	C	A	5: 124,907,557 (GRCm39)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,282,937 (GRCm39)	M281L	probably benign	Het
Fam186b	A	G	15: 99,176,751 (GRCm39)	I713T	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fry	A	T	5: 150,323,053 (GRCm39)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,493,247 (GRCm39)	I231V	probably benign	Het
Gbf1	A	G	19: 46,272,735 (GRCm39)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,858,130 (GRCm39)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Impg1	T	C	9: 80,347,318 (GRCm39)	I9V	probably benign	Het
Lama4	A	G	10: 38,948,678 (GRCm39)		probably null	Het
Lamc1	A	G	1: 153,109,310 (GRCm39)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,086,954 (GRCm39)		probably null	Het
Lrrc7	G	T	3: 158,024,073 (GRCm39)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,277,586 (GRCm39)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,002,729 (GRCm39)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,964,519 (GRCm39)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,299,778 (GRCm39)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,537,615 (GRCm39)	S34P	probably benign	Het
Myo3b	A	G	2: 70,064,785 (GRCm39)	N406S	probably benign	Het
Nbr1	A	T	11: 101,463,290 (GRCm39)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,693,070 (GRCm39)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,781,899 (GRCm39)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,064,425 (GRCm39)	F968I	probably benign	Het
Onecut1	A	T	9: 74,770,614 (GRCm39)	T346S	probably damaging	Het
Or1j12	A	T	2: 36,343,455 (GRCm39)	N286I	probably damaging	Het
Or8b35	G	A	9: 37,904,307 (GRCm39)	C168Y	probably damaging	Het
Or8g32	A	G	9: 39,305,257 (GRCm39)	N57D	probably benign	Het
Pclo	A	T	5: 14,730,966 (GRCm39)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,809,072 (GRCm39)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,355,411 (GRCm39)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,121,716 (GRCm39)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,361,952 (GRCm39)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,257,287 (GRCm39)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,540,020 (GRCm39)	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,339,191 (GRCm39)	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,678,584 (GRCm39)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,269,471 (GRCm39)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 4,985,004 (GRCm39)		probably null	Het
Sepsecs	A	T	5: 52,801,356 (GRCm39)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,936,226 (GRCm39)	K223E	probably benign	Het
Sh3tc2	G	A	18: 62,106,502 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,476,811 (GRCm39)	F817S	probably damaging	Het
Tril	T	C	6: 53,796,632 (GRCm39)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,040,207 (GRCm39)	T183A	probably benign	Het
Uroc1	A	T	6: 90,315,586 (GRCm39)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,160 (GRCm39)	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,983,950 (GRCm39)	Y592H	probably benign	Het
Zfp553	T	C	7: 126,836,202 (GRCm39)	S586P	probably benign	Het
Zfp619	C	T	7: 39,185,152 (GRCm39)	A394V	unknown	Het
Zfp985	A	G	4: 147,667,702 (GRCm39)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,427,536 (GRCm39)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,352,646 (GRCm39)	L73P	probably 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
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
R6572:Arhgap18	UTSW	10	26,722,412 (GRCm39)	splice 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'- ATGCAGTGGAGTTAACTGAGTG -3'
(R):5'- ACTTGCACACAGTCTACCTCTG -3'

Sequencing Primer
(F):5'- GGTAGTTAAGCACTCTCGCCATAC -3'
(R):5'- CAAGGGTCTAATTGTCAACTCTGC -3'

Posted On

2016-10-06