Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Arhgap9'

543394

Institutional Source

Beutler Lab

Gene Symbol

Arhgap9

Ensembl Gene

ENSMUSG00000040345

Gene Name

Rho GTPase activating protein 9

Synonyms

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R6969 (G1)

Quality Score

95.0077

Status

Not validated

Chromosome

Chromosomal Location

127157833-127165812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127162512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 348 (E348K)

Ref Sequence

ENSEMBL: ENSMUSP00000151690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026474] [ENSMUST00000069548] [ENSMUST00000219026] [ENSMUST00000219511]

AlphaFold

Q1HDU4

Predicted Effect

probably benign
Transcript: ENSMUST00000026474

SMART Domains

Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407

Domain	Start	End	E-Value	Type
low complexity region	222	237	N/A	INTRINSIC
ZnF_C2H2	238	263	1.33e-1	SMART
ZnF_C2H2	271	298	5.72e-1	SMART
ZnF_C2H2	304	328	2.57e-3	SMART
ZnF_C2H2	334	359	1.92e-2	SMART
ZnF_C2H2	365	390	2.61e-4	SMART
low complexity region	419	431	N/A	INTRINSIC
low complexity region	540	562	N/A	INTRINSIC
low complexity region	639	655	N/A	INTRINSIC
low complexity region	748	759	N/A	INTRINSIC
low complexity region	850	873	N/A	INTRINSIC
low complexity region	941	962	N/A	INTRINSIC
low complexity region	985	1002	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069548
AA Change: E173K

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345
AA Change: E173K

Domain	Start	End	E-Value	Type
PH	60	175	8.19e-10	SMART
RhoGAP	276	469	1.94e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219026
AA Change: E173K

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000219511
AA Change: E348K

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,958,317 (GRCm39)	L800H	unknown	Het
Ap2b1	T	A	11: 83,280,552 (GRCm39)	D788E	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
B4galnt2	A	T	11: 95,782,756 (GRCm39)	F19I	probably benign	Het
Bdp1	A	T	13: 100,211,039 (GRCm39)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,586,230 (GRCm39)	*427Q	probably null	Het
Chd9	A	C	8: 91,705,542 (GRCm39)	Q260P	probably benign	Het
Col16a1	A	T	4: 129,986,880 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 17,266,805 (GRCm39)	N40K	possibly damaging	Het
Depdc5	T	G	5: 33,141,204 (GRCm39)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,397,398 (GRCm39)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,076,141 (GRCm39)	Q691R	probably damaging	Het
Dusp10	T	C	1: 183,801,085 (GRCm39)	L284P	probably damaging	Het
Efr3b	A	G	12: 4,018,624 (GRCm39)	V574A	probably benign	Het
Erc2	A	T	14: 27,620,553 (GRCm39)	I60F	probably damaging	Het
Exoc2	A	G	13: 31,095,161 (GRCm39)	V245A	probably benign	Het
Fasl	G	T	1: 161,609,244 (GRCm39)	F37L	probably damaging	Het
Fat3	G	A	9: 15,941,212 (GRCm39)	P1360S	probably benign	Het
Gpsm1	C	T	2: 26,230,555 (GRCm39)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,605,331 (GRCm39)	G124V	probably damaging	Het
Insm2	T	C	12: 55,646,963 (GRCm39)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,929,468 (GRCm39)	Y402H	possibly damaging	Het
Irx6	A	G	8: 93,403,958 (GRCm39)	E175G	probably damaging	Het
Kcnh8	C	T	17: 53,184,971 (GRCm39)	R418*	probably null	Het
Kif3c	G	A	12: 3,416,114 (GRCm39)	R45Q	probably benign	Het
Larp7-ps	A	G	4: 92,079,826 (GRCm39)	I54T	probably damaging	Het
Lpin1	A	G	12: 16,630,862 (GRCm39)	F12S	probably damaging	Het
Lrba	A	T	3: 86,526,897 (GRCm39)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,527,610 (GRCm39)	N200K	probably benign	Het
Lrrc7	G	A	3: 157,862,550 (GRCm39)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,212,578 (GRCm39)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,351,593 (GRCm39)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,148,362 (GRCm39)	A15P	probably damaging	Het
Myh2	T	C	11: 67,088,092 (GRCm39)	F1903L	probably benign	Het
Myom3	T	C	4: 135,528,371 (GRCm39)	L1072P	probably damaging	Het
Or13l2	A	T	3: 97,318,118 (GRCm39)	Y126*	probably null	Het
Or56a41	T	C	7: 104,740,463 (GRCm39)	I128V	probably benign	Het
Or5bw2	G	A	7: 6,573,320 (GRCm39)	C110Y	probably damaging	Het
Or7g35	A	T	9: 19,495,886 (GRCm39)	T18S	possibly damaging	Het
Patl2	A	T	2: 121,959,410 (GRCm39)	V18D	possibly damaging	Het
Pkn1	T	C	8: 84,410,055 (GRCm39)	S395G	probably damaging	Het
Ptprm	A	G	17: 67,219,413 (GRCm39)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 184,968,209 (GRCm39)	L187P	probably damaging	Het
Ric1	A	T	19: 29,563,182 (GRCm39)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,827,657 (GRCm39)	K598R	probably benign	Het
Rnf40	A	G	7: 127,195,495 (GRCm39)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,452,616 (GRCm39)	T544A	probably benign	Het
Scaf1	C	A	7: 44,657,253 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,591,643 (GRCm39)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,695,153 (GRCm39)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,546,275 (GRCm39)	V383F	probably damaging	Het
Slc5a2	A	G	7: 127,871,249 (GRCm39)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,106,601 (GRCm39)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,025,388 (GRCm39)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,700,959 (GRCm39)	A314T	probably damaging	Het
Sptb	A	T	12: 76,654,781 (GRCm39)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm39)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,968,171 (GRCm39)	Y424C	probably damaging	Het
Tgm3	A	G	2: 129,883,949 (GRCm39)	K536E	probably benign	Het
Tti2	A	G	8: 31,644,329 (GRCm39)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,258,251 (GRCm39)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm39)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,060,507 (GRCm39)		probably benign	Het
Zfp59	T	C	7: 27,552,922 (GRCm39)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,188,448 (GRCm39)	M144K	possibly damaging	Het
Zfp93	A	T	7: 23,974,806 (GRCm39)	K264*	probably null	Het

Other mutations in Arhgap9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Arhgap9	APN	10	127,163,762 (GRCm39)	splice site	probably benign
IGL01069:Arhgap9	APN	10	127,164,821 (GRCm39)	missense	probably damaging	1.00
IGL02444:Arhgap9	APN	10	127,163,816 (GRCm39)	missense	probably damaging	1.00
IGL02707:Arhgap9	APN	10	127,165,476 (GRCm39)	missense	probably damaging	0.98
R0242:Arhgap9	UTSW	10	127,165,407 (GRCm39)	missense	probably benign	0.13
R0242:Arhgap9	UTSW	10	127,165,407 (GRCm39)	missense	probably benign	0.13
R0841:Arhgap9	UTSW	10	127,165,508 (GRCm39)	missense	probably damaging	0.98
R1084:Arhgap9	UTSW	10	127,163,797 (GRCm39)	missense	probably damaging	1.00
R1707:Arhgap9	UTSW	10	127,164,758 (GRCm39)	missense	probably benign	0.00
R1799:Arhgap9	UTSW	10	127,163,593 (GRCm39)	missense	probably damaging	1.00
R2423:Arhgap9	UTSW	10	127,162,993 (GRCm39)	splice site	probably null
R2511:Arhgap9	UTSW	10	127,164,854 (GRCm39)	critical splice donor site	probably null
R3721:Arhgap9	UTSW	10	127,164,840 (GRCm39)	missense	possibly damaging	0.84
R3803:Arhgap9	UTSW	10	127,165,386 (GRCm39)	missense	possibly damaging	0.64
R4261:Arhgap9	UTSW	10	127,164,334 (GRCm39)	missense	probably damaging	1.00
R4968:Arhgap9	UTSW	10	127,162,875 (GRCm39)	missense	possibly damaging	0.80
R5423:Arhgap9	UTSW	10	127,165,418 (GRCm39)	missense	probably damaging	1.00
R5425:Arhgap9	UTSW	10	127,162,287 (GRCm39)	missense	probably damaging	1.00
R6697:Arhgap9	UTSW	10	127,157,989 (GRCm39)	missense	probably benign	0.34
R8840:Arhgap9	UTSW	10	127,161,009 (GRCm39)	missense	possibly damaging	0.94
R8844:Arhgap9	UTSW	10	127,161,015 (GRCm39)	missense	probably benign	0.03
R9084:Arhgap9	UTSW	10	127,158,114 (GRCm39)	missense	possibly damaging	0.95
R9325:Arhgap9	UTSW	10	127,161,722 (GRCm39)	missense	probably damaging	1.00
X0067:Arhgap9	UTSW	10	127,164,301 (GRCm39)	missense	probably damaging	1.00
Z1176:Arhgap9	UTSW	10	127,163,558 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTCCTCGCAGCGTTTTAG -3'
(R):5'- ACACCGGTTCCGATTCCAATTC -3'

Sequencing Primer
(F):5'- GCAGCGTTTTAGGCACTCCTAG -3'
(R):5'- TTGGACAGGAGAACATCTGCACC -3'

Posted On

2018-11-28