Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03113:Arhgef17'

419289

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 #

IGL03113

Quality Score

Status

Chromosome

Chromosomal Location

100518959-100581314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100578938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 670 (T670I)

Ref Sequence

ENSEMBL: ENSMUSP00000102647 (fasta)

Gene Model

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

AlphaFold

Q80U35

Predicted Effect

probably benign
Transcript: ENSMUST00000107032
AA Change: T670I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: T670I

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apof	G	A	10: 128,105,568 (GRCm39)	V241M	probably benign	Het
Arhgef10	T	A	8: 15,004,505 (GRCm39)	I91N	probably damaging	Het
Barhl1	T	C	2: 28,805,468 (GRCm39)	D75G	probably benign	Het
Capn13	T	C	17: 73,638,108 (GRCm39)	T432A	probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm39)	Y691N	probably damaging	Het
Ccdc175	C	A	12: 72,191,557 (GRCm39)	V340L	probably benign	Het
Cdc5l	A	T	17: 45,744,348 (GRCm39)	M5K	possibly damaging	Het
Cgn	A	G	3: 94,686,544 (GRCm39)	F253L	probably benign	Het
Csmd1	T	C	8: 16,078,712 (GRCm39)	K2003R	probably benign	Het
Disp2	T	A	2: 118,621,259 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,472,163 (GRCm39)	N3535D	possibly damaging	Het
Exoc3	G	A	13: 74,341,232 (GRCm39)	Q191*	probably null	Het
Fstl5	T	A	3: 76,337,099 (GRCm39)	Y219*	probably null	Het
Gad2	T	A	2: 22,571,367 (GRCm39)	L435Q	probably benign	Het
Gcnt3	A	G	9: 69,941,983 (GRCm39)	V195A	probably damaging	Het
Haus6	G	A	4: 86,501,343 (GRCm39)	Q843*	probably null	Het
Hivep2	T	A	10: 14,006,395 (GRCm39)	F998I	probably damaging	Het
Hsf5	A	T	11: 87,548,190 (GRCm39)	E624D	probably benign	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klhl6	T	A	16: 19,776,001 (GRCm39)	S186C	possibly damaging	Het
Klk15	T	C	7: 43,587,805 (GRCm39)	F78L	probably benign	Het
Ldlr	A	G	9: 21,651,124 (GRCm39)	E514G	possibly damaging	Het
Map9	T	A	3: 82,267,285 (GRCm39)		probably benign	Het
Miga2	A	T	2: 30,274,022 (GRCm39)	I99F	possibly damaging	Het
Morc4	T	C	X: 138,758,605 (GRCm39)	E189G	probably benign	Het
Nhlrc3	A	T	3: 53,365,984 (GRCm39)	Y170N	possibly damaging	Het
Or3a1b	G	A	11: 74,012,529 (GRCm39)	R138Q	probably benign	Het
Or4c111	A	G	2: 88,844,379 (GRCm39)	F10L	probably damaging	Het
Or51b6b	A	T	7: 103,309,851 (GRCm39)	V202D	possibly damaging	Het
Or52u1	A	T	7: 104,237,940 (GRCm39)	R310W	probably benign	Het
Or5o1	T	A	X: 48,815,939 (GRCm39)	N291Y	probably damaging	Het
Or5w15	T	C	2: 87,568,506 (GRCm39)	Q54R	probably benign	Het
Or8g32	A	C	9: 39,305,981 (GRCm39)	K295T	probably damaging	Het
Pkd1l1	G	A	11: 8,784,793 (GRCm39)	T1997I	probably benign	Het
Poln	A	G	5: 34,274,206 (GRCm39)	S377P	probably benign	Het
Rab22a	T	A	2: 173,503,265 (GRCm39)	V26E	probably damaging	Het
Rhbdl3	T	C	11: 80,244,439 (GRCm39)	V382A	possibly damaging	Het
Slitrk3	G	T	3: 72,957,723 (GRCm39)	Q350K	probably benign	Het
Sult1d1	A	T	5: 87,707,738 (GRCm39)	Y127*	probably null	Het
Vmn1r73	A	T	7: 11,490,527 (GRCm39)	Y115F	probably benign	Het
Zfp128	T	A	7: 12,624,314 (GRCm39)	D227E	probably benign	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
IGL01995:Arhgef17	APN	7	100,577,862 (GRCm39)	missense	probably benign	0.02
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
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

2016-08-02