Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01995:Arhgef17'

183668

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef17

Ensembl Gene

ENSMUSG00000032875

Gene Name

Rho guanine nucleotide exchange factor (GEF) 17

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

100869752-100932107 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100928655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1029 (S1029P)

Ref Sequence

ENSEMBL: ENSMUSP00000102647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107032]

AlphaFold

Q80U35

Predicted Effect

probably benign
Transcript: ENSMUST00000107032
AA Change: S1029P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: S1029P

Domain	Start	End	E-Value	Type
low complexity region	65	74	N/A	INTRINSIC
low complexity region	160	175	N/A	INTRINSIC
low complexity region	196	209	N/A	INTRINSIC
low complexity region	227	255	N/A	INTRINSIC
low complexity region	282	297	N/A	INTRINSIC
low complexity region	314	323	N/A	INTRINSIC
low complexity region	507	526	N/A	INTRINSIC
low complexity region	559	572	N/A	INTRINSIC
low complexity region	828	842	N/A	INTRINSIC
low complexity region	970	984	N/A	INTRINSIC
RhoGEF	1063	1246	9.56e-61	SMART
Blast:PH	1281	1466	4e-88	BLAST
low complexity region	1582	1595	N/A	INTRINSIC
low complexity region	1630	1642	N/A	INTRINSIC
low complexity region	1646	1657	N/A	INTRINSIC
low complexity region	1661	1701	N/A	INTRINSIC
low complexity region	1708	1719	N/A	INTRINSIC
low complexity region	2033	2040	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,163,845		probably benign	Het
AI661453	C	A	17: 47,468,517		probably benign	Het
Arhgap29	G	A	3: 122,014,328	V1052I	probably benign	Het
Arpc5l	T	C	2: 39,008,214	S7P	probably damaging	Het
Asf1b	A	G	8: 83,955,904	I26V	probably benign	Het
Cep95	T	C	11: 106,806,371	L240P	probably damaging	Het
Cnmd	A	G	14: 79,642,068		probably benign	Het
Cntn3	T	A	6: 102,203,885	N783I	probably damaging	Het
Col6a2	C	A	10: 76,604,842		probably benign	Het
Col9a2	T	C	4: 121,050,410		probably null	Het
Cry2	T	C	2: 92,424,632	E126G	probably benign	Het
Cxcl15	T	C	5: 90,794,608	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,583,899	D510G	probably benign	Het
Dct	A	G	14: 118,034,243	F392L	probably damaging	Het
Dgkz	A	G	2: 91,934,050		probably benign	Het
Dhrs7b	A	G	11: 60,830,715	I2V	probably benign	Het
Efnb3	A	T	11: 69,556,904		probably null	Het
Fbf1	T	A	11: 116,151,020	R565S	probably null	Het
Gimap5	T	C	6: 48,752,793	I99T	probably damaging	Het
Gm9912	A	G	3: 149,185,449	L16P	unknown	Het
Gpr17	A	G	18: 31,947,134	L292P	probably damaging	Het
Hdac10	C	T	15: 89,127,598	V129M	probably damaging	Het
Mfap3l	A	G	8: 60,671,464	I247V	possibly damaging	Het
Mtus1	A	T	8: 41,084,420	S86R	probably damaging	Het
Mylk3	A	G	8: 85,359,261	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567	C745S	probably damaging	Het
Nudt13	A	T	14: 20,306,317	E103D	probably damaging	Het
Olfr1129	A	G	2: 87,575,462	Y126C	probably damaging	Het
Olfr395	A	G	11: 73,907,435	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,857,371	A324S	probably benign	Het
Pofut2	T	C	10: 77,260,681	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,636,816	D821G	probably damaging	Het
Rnf10	T	A	5: 115,251,102	K273*	probably null	Het
Slc4a9	A	G	18: 36,539,775	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,444,020	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,143,471	T159S	probably benign	Het
Tom1l1	G	A	11: 90,649,861	P327S	probably damaging	Het
Trim3	A	G	7: 105,618,482		probably benign	Het
Trpm6	A	C	19: 18,830,327		probably benign	Het
Ttc13	A	C	8: 124,688,882	L245R	probably damaging	Het
Txnrd1	T	A	10: 82,877,284	V60E	probably damaging	Het
Ung	T	A	5: 114,136,386	D173E	probably benign	Het
Zbtb5	A	G	4: 44,995,294	V30A	probably damaging	Het

Other mutations in Arhgef17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Arhgef17	APN	7	100929449	missense	probably benign
IGL01071:Arhgef17	APN	7	100885700	missense	probably damaging	0.99
IGL01882:Arhgef17	APN	7	100878580	nonsense	probably null
IGL02213:Arhgef17	APN	7	100890426	missense	probably benign
IGL02380:Arhgef17	APN	7	100929443	missense	possibly damaging	0.60
IGL02551:Arhgef17	APN	7	100930346	missense	probably damaging	1.00
IGL02613:Arhgef17	APN	7	100928896	missense	probably damaging	1.00
IGL02643:Arhgef17	APN	7	100883882	missense	possibly damaging	0.95
IGL02798:Arhgef17	APN	7	100929626	missense	probably benign	0.00
IGL03113:Arhgef17	APN	7	100929731	missense	probably benign	0.00
IGL03264:Arhgef17	APN	7	100880013	missense	probably benign	0.00
G1Funyon:Arhgef17	UTSW	7	100879659	missense	probably benign	0.00
R0064:Arhgef17	UTSW	7	100881354	missense	probably benign	0.00
R0189:Arhgef17	UTSW	7	100928850	missense	probably damaging	1.00
R0482:Arhgef17	UTSW	7	100880621	missense	probably damaging	1.00
R0826:Arhgef17	UTSW	7	100930743	missense	probably benign	0.01
R1295:Arhgef17	UTSW	7	100881269	nonsense	probably null
R1296:Arhgef17	UTSW	7	100881269	nonsense	probably null
R1389:Arhgef17	UTSW	7	100931037	small deletion	probably benign
R1466:Arhgef17	UTSW	7	100929659	missense	possibly damaging	0.48
R1466:Arhgef17	UTSW	7	100929659	missense	possibly damaging	0.48
R1513:Arhgef17	UTSW	7	100930862	missense	probably benign
R1539:Arhgef17	UTSW	7	100890473	missense	probably damaging	1.00
R1644:Arhgef17	UTSW	7	100929504	missense	probably damaging	1.00
R1789:Arhgef17	UTSW	7	100929870	missense	probably damaging	1.00
R1861:Arhgef17	UTSW	7	100882268	missense	probably damaging	1.00
R1868:Arhgef17	UTSW	7	100878977	missense	probably benign
R2009:Arhgef17	UTSW	7	100881781	missense	probably damaging	0.98
R2095:Arhgef17	UTSW	7	100881263	missense	probably damaging	1.00
R2311:Arhgef17	UTSW	7	100928904	missense	probably benign	0.35
R3607:Arhgef17	UTSW	7	100931172	missense	probably damaging	1.00
R3882:Arhgef17	UTSW	7	100876454	missense	possibly damaging	0.70
R4089:Arhgef17	UTSW	7	100883799	missense	probably damaging	1.00
R4420:Arhgef17	UTSW	7	100882308	splice site	probably benign
R4536:Arhgef17	UTSW	7	100929854	missense	probably damaging	1.00
R4548:Arhgef17	UTSW	7	100931129	missense	possibly damaging	0.60
R4616:Arhgef17	UTSW	7	100882485	missense	probably damaging	1.00
R5040:Arhgef17	UTSW	7	100876825	missense	probably benign	0.17
R5100:Arhgef17	UTSW	7	100881756	missense	possibly damaging	0.90
R5233:Arhgef17	UTSW	7	100881369	missense	possibly damaging	0.61
R5307:Arhgef17	UTSW	7	100929428	missense	probably benign	0.00
R5313:Arhgef17	UTSW	7	100928924	missense	probably damaging	0.99
R5643:Arhgef17	UTSW	7	100880011	missense	probably damaging	1.00
R5704:Arhgef17	UTSW	7	100881341	missense	probably damaging	1.00
R6166:Arhgef17	UTSW	7	100876492	missense	probably damaging	1.00
R6417:Arhgef17	UTSW	7	100930062	missense	probably damaging	1.00
R6420:Arhgef17	UTSW	7	100930062	missense	probably damaging	1.00
R6510:Arhgef17	UTSW	7	100878536	missense	probably damaging	0.97
R6877:Arhgef17	UTSW	7	100881341	missense	probably damaging	1.00
R6888:Arhgef17	UTSW	7	100930820	missense	possibly damaging	0.74
R7016:Arhgef17	UTSW	7	100878977	missense	probably benign
R7073:Arhgef17	UTSW	7	100929991	nonsense	probably null
R7322:Arhgef17	UTSW	7	100877797	missense	probably benign	0.01
R7691:Arhgef17	UTSW	7	100929642	missense	probably damaging	1.00
R7724:Arhgef17	UTSW	7	100880609	missense	probably damaging	1.00
R7728:Arhgef17	UTSW	7	100930068	missense	probably benign	0.00
R7829:Arhgef17	UTSW	7	100876845	missense	probably benign	0.03
R8036:Arhgef17	UTSW	7	100929855	missense	probably damaging	1.00
R8072:Arhgef17	UTSW	7	100881797	missense	probably benign	0.04
R8301:Arhgef17	UTSW	7	100879659	missense	probably benign	0.00
R8935:Arhgef17	UTSW	7	100878117	missense	probably benign	0.03
R8958:Arhgef17	UTSW	7	100929812	missense	probably damaging	0.98
R9221:Arhgef17	UTSW	7	100879611	missense	possibly damaging	0.78
R9362:Arhgef17	UTSW	7	100930958	missense	probably benign	0.12
R9499:Arhgef17	UTSW	7	100876895	missense	possibly damaging	0.52
R9593:Arhgef17	UTSW	7	100882802	missense	probably damaging	1.00
X0012:Arhgef17	UTSW	7	100928904	missense	probably benign	0.35

Posted On

2014-05-07