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 17

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

100518959-100581314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100577862 bp (GRCm39)

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: 44,401,302 (GRCm39)		probably benign	Het
AI661453	C	A	17: 47,779,442 (GRCm39)		probably benign	Het
Arhgap29	G	A	3: 121,807,977 (GRCm39)	V1052I	probably benign	Het
Arpc5l	T	C	2: 38,898,226 (GRCm39)	S7P	probably damaging	Het
Asf1b	A	G	8: 84,682,533 (GRCm39)	I26V	probably benign	Het
Cep95	T	C	11: 106,697,197 (GRCm39)	L240P	probably damaging	Het
Cnmd	A	G	14: 79,879,508 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,180,846 (GRCm39)	N783I	probably damaging	Het
Col6a2	C	A	10: 76,440,676 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,907,607 (GRCm39)		probably null	Het
Cry2	T	C	2: 92,254,977 (GRCm39)	E126G	probably benign	Het
Cxcl15	T	C	5: 90,942,467 (GRCm39)	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,465,952 (GRCm39)	D510G	probably benign	Het
Dct	A	G	14: 118,271,655 (GRCm39)	F392L	probably damaging	Het
Dgkz	A	G	2: 91,764,395 (GRCm39)		probably benign	Het
Dhrs7b	A	G	11: 60,721,541 (GRCm39)	I2V	probably benign	Het
Efnb3	A	T	11: 69,447,730 (GRCm39)		probably null	Het
Fbf1	T	A	11: 116,041,846 (GRCm39)	R565S	probably null	Het
Gimap5	T	C	6: 48,729,727 (GRCm39)	I99T	probably damaging	Het
Gm9912	A	G	3: 148,891,085 (GRCm39)	L16P	unknown	Het
Gpr17	A	G	18: 32,080,187 (GRCm39)	L292P	probably damaging	Het
Hdac10	C	T	15: 89,011,801 (GRCm39)	V129M	probably damaging	Het
Mfap3l	A	G	8: 61,124,498 (GRCm39)	I247V	possibly damaging	Het
Mtus1	A	T	8: 41,537,457 (GRCm39)	S86R	probably damaging	Het
Mylk3	A	G	8: 86,085,890 (GRCm39)	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567 (GRCm39)	C745S	probably damaging	Het
Nudt13	A	T	14: 20,356,385 (GRCm39)	E103D	probably damaging	Het
Or10ag59	A	G	2: 87,405,806 (GRCm39)	Y126C	probably damaging	Het
Or1e35	A	G	11: 73,798,261 (GRCm39)	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,764,687 (GRCm39)	A324S	probably benign	Het
Pofut2	T	C	10: 77,096,515 (GRCm39)	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,286,240 (GRCm39)	D821G	probably damaging	Het
Rnf10	T	A	5: 115,389,161 (GRCm39)	K273*	probably null	Het
Slc4a9	A	G	18: 36,672,828 (GRCm39)	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,751,015 (GRCm39)	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,380,883 (GRCm39)	T159S	probably benign	Het
Tom1l1	G	A	11: 90,540,687 (GRCm39)	P327S	probably damaging	Het
Trim3	A	G	7: 105,267,689 (GRCm39)		probably benign	Het
Trpm6	A	C	19: 18,807,691 (GRCm39)		probably benign	Het
Ttc13	A	C	8: 125,415,621 (GRCm39)	L245R	probably damaging	Het
Txnrd1	T	A	10: 82,713,118 (GRCm39)	V60E	probably damaging	Het
Ung	T	A	5: 114,274,447 (GRCm39)	D173E	probably benign	Het
Zbtb5	A	G	4: 44,995,294 (GRCm39)	V30A	probably damaging	Het

Other mutations in Arhgef17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Arhgef17	APN	7	100,578,656 (GRCm39)	missense	probably benign
IGL01071:Arhgef17	APN	7	100,534,907 (GRCm39)	missense	probably damaging	0.99
IGL01882:Arhgef17	APN	7	100,527,787 (GRCm39)	nonsense	probably null
IGL02213:Arhgef17	APN	7	100,539,633 (GRCm39)	missense	probably benign
IGL02380:Arhgef17	APN	7	100,578,650 (GRCm39)	missense	possibly damaging	0.60
IGL02551:Arhgef17	APN	7	100,579,553 (GRCm39)	missense	probably damaging	1.00
IGL02613:Arhgef17	APN	7	100,578,103 (GRCm39)	missense	probably damaging	1.00
IGL02643:Arhgef17	APN	7	100,533,089 (GRCm39)	missense	possibly damaging	0.95
IGL02798:Arhgef17	APN	7	100,578,833 (GRCm39)	missense	probably benign	0.00
IGL03113:Arhgef17	APN	7	100,578,938 (GRCm39)	missense	probably benign	0.00
IGL03264:Arhgef17	APN	7	100,529,220 (GRCm39)	missense	probably benign	0.00
G1Funyon:Arhgef17	UTSW	7	100,528,866 (GRCm39)	missense	probably benign	0.00
R0064:Arhgef17	UTSW	7	100,530,561 (GRCm39)	missense	probably benign	0.00
R0189:Arhgef17	UTSW	7	100,578,057 (GRCm39)	missense	probably damaging	1.00
R0482:Arhgef17	UTSW	7	100,529,828 (GRCm39)	missense	probably damaging	1.00
R0826:Arhgef17	UTSW	7	100,579,950 (GRCm39)	missense	probably benign	0.01
R1295:Arhgef17	UTSW	7	100,530,476 (GRCm39)	nonsense	probably null
R1296:Arhgef17	UTSW	7	100,530,476 (GRCm39)	nonsense	probably null
R1389:Arhgef17	UTSW	7	100,580,244 (GRCm39)	small deletion	probably benign
R1466:Arhgef17	UTSW	7	100,578,866 (GRCm39)	missense	possibly damaging	0.48
R1466:Arhgef17	UTSW	7	100,578,866 (GRCm39)	missense	possibly damaging	0.48
R1513:Arhgef17	UTSW	7	100,580,069 (GRCm39)	missense	probably benign
R1539:Arhgef17	UTSW	7	100,539,680 (GRCm39)	missense	probably damaging	1.00
R1644:Arhgef17	UTSW	7	100,578,711 (GRCm39)	missense	probably damaging	1.00
R1789:Arhgef17	UTSW	7	100,579,077 (GRCm39)	missense	probably damaging	1.00
R1861:Arhgef17	UTSW	7	100,531,475 (GRCm39)	missense	probably damaging	1.00
R1868:Arhgef17	UTSW	7	100,528,184 (GRCm39)	missense	probably benign
R2009:Arhgef17	UTSW	7	100,530,988 (GRCm39)	missense	probably damaging	0.98
R2095:Arhgef17	UTSW	7	100,530,470 (GRCm39)	missense	probably damaging	1.00
R2311:Arhgef17	UTSW	7	100,578,111 (GRCm39)	missense	probably benign	0.35
R3607:Arhgef17	UTSW	7	100,580,379 (GRCm39)	missense	probably damaging	1.00
R3882:Arhgef17	UTSW	7	100,525,661 (GRCm39)	missense	possibly damaging	0.70
R4089:Arhgef17	UTSW	7	100,533,006 (GRCm39)	missense	probably damaging	1.00
R4420:Arhgef17	UTSW	7	100,531,515 (GRCm39)	splice site	probably benign
R4536:Arhgef17	UTSW	7	100,579,061 (GRCm39)	missense	probably damaging	1.00
R4548:Arhgef17	UTSW	7	100,580,336 (GRCm39)	missense	possibly damaging	0.60
R4616:Arhgef17	UTSW	7	100,531,692 (GRCm39)	missense	probably damaging	1.00
R5040:Arhgef17	UTSW	7	100,526,032 (GRCm39)	missense	probably benign	0.17
R5100:Arhgef17	UTSW	7	100,530,963 (GRCm39)	missense	possibly damaging	0.90
R5233:Arhgef17	UTSW	7	100,530,576 (GRCm39)	missense	possibly damaging	0.61
R5307:Arhgef17	UTSW	7	100,578,635 (GRCm39)	missense	probably benign	0.00
R5313:Arhgef17	UTSW	7	100,578,131 (GRCm39)	missense	probably damaging	0.99
R5643:Arhgef17	UTSW	7	100,529,218 (GRCm39)	missense	probably damaging	1.00
R5704:Arhgef17	UTSW	7	100,530,548 (GRCm39)	missense	probably damaging	1.00
R6166:Arhgef17	UTSW	7	100,525,699 (GRCm39)	missense	probably damaging	1.00
R6417:Arhgef17	UTSW	7	100,579,269 (GRCm39)	missense	probably damaging	1.00
R6420:Arhgef17	UTSW	7	100,579,269 (GRCm39)	missense	probably damaging	1.00
R6510:Arhgef17	UTSW	7	100,527,743 (GRCm39)	missense	probably damaging	0.97
R6877:Arhgef17	UTSW	7	100,530,548 (GRCm39)	missense	probably damaging	1.00
R6888:Arhgef17	UTSW	7	100,580,027 (GRCm39)	missense	possibly damaging	0.74
R7016:Arhgef17	UTSW	7	100,528,184 (GRCm39)	missense	probably benign
R7073:Arhgef17	UTSW	7	100,579,198 (GRCm39)	nonsense	probably null
R7322:Arhgef17	UTSW	7	100,527,004 (GRCm39)	missense	probably benign	0.01
R7691:Arhgef17	UTSW	7	100,578,849 (GRCm39)	missense	probably damaging	1.00
R7724:Arhgef17	UTSW	7	100,529,816 (GRCm39)	missense	probably damaging	1.00
R7728:Arhgef17	UTSW	7	100,579,275 (GRCm39)	missense	probably benign	0.00
R7829:Arhgef17	UTSW	7	100,526,052 (GRCm39)	missense	probably benign	0.03
R8036:Arhgef17	UTSW	7	100,579,062 (GRCm39)	missense	probably damaging	1.00
R8072:Arhgef17	UTSW	7	100,531,004 (GRCm39)	missense	probably benign	0.04
R8301:Arhgef17	UTSW	7	100,528,866 (GRCm39)	missense	probably benign	0.00
R8935:Arhgef17	UTSW	7	100,527,324 (GRCm39)	missense	probably benign	0.03
R8958:Arhgef17	UTSW	7	100,579,019 (GRCm39)	missense	probably damaging	0.98
R9221:Arhgef17	UTSW	7	100,528,818 (GRCm39)	missense	possibly damaging	0.78
R9362:Arhgef17	UTSW	7	100,580,165 (GRCm39)	missense	probably benign	0.12
R9499:Arhgef17	UTSW	7	100,526,102 (GRCm39)	missense	possibly damaging	0.52
R9593:Arhgef17	UTSW	7	100,532,009 (GRCm39)	missense	probably damaging	1.00
X0012:Arhgef17	UTSW	7	100,578,111 (GRCm39)	missense	probably benign	0.35

Posted On

2014-05-07