Mutagenetix > Incidental Mutation

Incidental Mutation 'R6799:Arhgap18'

533218

Institutional Source

Beutler Lab

Gene Symbol

Arhgap18

Ensembl Gene

ENSMUSG00000039031

Gene Name

Rho GTPase activating protein 18

Synonyms

4833419J07Rik

MMRRC Submission

044912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26648363-26794644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26725917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 47 (N47K)

Ref Sequence

ENSEMBL: ENSMUSP00000135030 (fasta)

Gene Model

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

AlphaFold

Q8K0Q5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039557
AA Change: N119K

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031
AA Change: N119K

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

possibly damaging
Transcript: ENSMUST00000135866
AA Change: N47K

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135783
Gene: ENSMUSG00000039031
AA Change: N47K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176060
AA Change: N47K

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135030
Gene: ENSMUSG00000039031
AA Change: N47K

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

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	T	5: 144,981,624 (GRCm39)	Y153F	probably damaging	Het
Abcb1b	T	A	5: 8,862,656 (GRCm39)	Y113N	probably damaging	Het
Albfm1	A	G	5: 90,727,474 (GRCm39)	H364R	probably damaging	Het
Anapc1	C	G	2: 128,501,657 (GRCm39)	R795T	probably null	Het
Arhgap26	A	G	18: 39,232,660 (GRCm39)	N96D	probably damaging	Het
Asxl3	G	T	18: 22,598,457 (GRCm39)	E191*	probably null	Het
Cc2d2b	A	G	19: 40,779,652 (GRCm39)	E697G	possibly damaging	Het
Chaf1a	A	T	17: 56,354,059 (GRCm39)	I110F	unknown	Het
Clca4b	A	T	3: 144,621,388 (GRCm39)		probably null	Het
Dagla	C	A	19: 10,234,214 (GRCm39)	V366L	probably damaging	Het
Dapk1	A	G	13: 60,900,049 (GRCm39)	N878S	probably benign	Het
Dapk3	A	G	10: 81,026,096 (GRCm39)	Y129C	probably damaging	Het
Dhx38	A	G	8: 110,279,834 (GRCm39)	L952P	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Dtymk	A	G	1: 93,726,214 (GRCm39)	L15P	probably benign	Het
E330034G19Rik	A	G	14: 24,346,178 (GRCm39)	M30V	probably benign	Het
Egfr	G	A	11: 16,846,952 (GRCm39)	C783Y	probably damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw24	T	A	9: 109,453,998 (GRCm39)	R49S	probably damaging	Het
Fcsk	T	C	8: 111,620,050 (GRCm39)	M276V	probably benign	Het
Gm8797	A	T	3: 5,816,027 (GRCm39)	T22S	probably benign	Het
Hao1	T	C	2: 134,372,685 (GRCm39)	S108G	probably damaging	Het
Hdac4	C	A	1: 91,929,935 (GRCm39)	A184S	probably damaging	Het
Hikeshi	T	A	7: 89,579,553 (GRCm39)		probably benign	Het
Hivep2	C	T	10: 14,004,757 (GRCm39)	R452C	probably benign	Het
Hsdl1	T	C	8: 120,293,169 (GRCm39)	S68G	probably benign	Het
Kctd20	T	C	17: 29,182,351 (GRCm39)		probably null	Het
Klf11	T	C	12: 24,705,638 (GRCm39)	V364A	possibly damaging	Het
Kpna6	A	G	4: 129,551,247 (GRCm39)	L86P	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lpin1	T	A	12: 16,611,045 (GRCm39)	N516Y	probably damaging	Het
Lrp2	T	C	2: 69,314,248 (GRCm39)	Y2161C	probably damaging	Het
Lrrtm3	A	T	10: 63,923,630 (GRCm39)	C512*	probably null	Het
Mfsd1	T	C	3: 67,507,314 (GRCm39)	I405T	probably damaging	Het
Msc	T	G	1: 14,825,491 (GRCm39)	D161A	probably damaging	Het
Mttp	T	C	3: 137,800,841 (GRCm39)	I755V	probably benign	Het
Ncam1	T	C	9: 49,419,911 (GRCm39)	T803A	probably damaging	Het
Nlrp14	A	G	7: 106,795,346 (GRCm39)	I210V	probably benign	Het
Npat	A	T	9: 53,462,930 (GRCm39)	H108L	probably benign	Het
Nt5dc1	A	G	10: 34,189,703 (GRCm39)	I329T	possibly damaging	Het
Or10v5	T	A	19: 11,806,178 (GRCm39)	I71F	possibly damaging	Het
Or51q1c	T	A	7: 103,648,006 (GRCm39)		probably null	Het
Or8b35	T	C	9: 37,904,478 (GRCm39)	L230P	possibly damaging	Het
Parm1	C	T	5: 91,742,070 (GRCm39)	T146I	possibly damaging	Het
Parp2	T	C	14: 51,058,553 (GRCm39)	Y528H	probably damaging	Het
Pias1	G	T	9: 62,789,334 (GRCm39)	S624R	probably benign	Het
Ppif	A	G	14: 25,696,488 (GRCm39)	H95R	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Psg20	A	G	7: 18,418,345 (GRCm39)	Y141H	probably benign	Het
Pygm	A	T	19: 6,448,157 (GRCm39)	Y733F	probably damaging	Het
Rcc1l	A	T	5: 134,205,552 (GRCm39)	M1K	probably null	Het
Rfpl4b	T	C	10: 38,697,341 (GRCm39)	K87E	possibly damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Scn5a	A	C	9: 119,324,688 (GRCm39)	I1380S	possibly damaging	Het
Sel1l	A	G	12: 91,781,742 (GRCm39)		probably null	Het
Slc18a1	T	A	8: 69,493,633 (GRCm39)	I400L	probably benign	Het
Slc30a3	A	G	5: 31,246,958 (GRCm39)	S73P	probably damaging	Het
Slc9a5	A	T	8: 106,090,600 (GRCm39)	N685I	possibly damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trdmt1	A	G	2: 13,520,824 (GRCm39)		probably null	Het
Ttyh1	G	T	7: 4,136,221 (GRCm39)		probably null	Het
Tyms	A	T	5: 30,266,069 (GRCm39)	D283E	probably benign	Het
Vmn2r110	T	A	17: 20,803,798 (GRCm39)	Y259F	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r88	C	A	14: 51,651,426 (GRCm39)	Q255K	probably benign	Het
Vmn2r95	C	T	17: 18,659,555 (GRCm39)	P100S	probably damaging	Het
Zfp128	A	T	7: 12,624,826 (GRCm39)	H398L	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
R6572:Arhgap18	UTSW	10	26,722,412 (GRCm39)	splice site	probably null
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'- TATCACTATGGCCAGGGAGAATG -3'
(R):5'- TGTTGAGCAAATATGTCTCTGACG -3'

Sequencing Primer
(F):5'- AGAATGGCAGTTGTCCAAGTTTC -3'
(R):5'- GAGCAAATATGTCTCTGACGTCACG -3'

Posted On

2018-09-12