Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02798:Arhgef17'

360032

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 #

IGL02798

Quality Score

Status

Chromosome

Chromosomal Location

100518959-100581314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100578833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 705 (V705A)

Ref Sequence

ENSEMBL: ENSMUSP00000102647 (fasta)

Gene Model

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

AlphaFold

Q80U35

Predicted Effect

probably benign
Transcript: ENSMUST00000107032
AA Change: V705A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: V705A

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,277,724 (GRCm39)	C514S	probably damaging	Het
Alcam	A	G	16: 52,126,002 (GRCm39)	I105T	probably damaging	Het
Arhgef10l	A	T	4: 140,292,441 (GRCm39)		probably null	Het
C87436	T	A	6: 86,423,184 (GRCm39)	C253S	probably benign	Het
Cbx7	T	C	15: 79,802,600 (GRCm39)	T226A	probably damaging	Het
Cdh20	T	C	1: 104,875,190 (GRCm39)	I324T	probably damaging	Het
Celsr3	A	T	9: 108,720,774 (GRCm39)	H2608L	probably damaging	Het
Cramp1	A	G	17: 25,187,894 (GRCm39)		probably benign	Het
Ddx25	A	G	9: 35,462,693 (GRCm39)	C231R	probably damaging	Het
Emilin2	A	G	17: 71,563,690 (GRCm39)		probably benign	Het
Hip1r	T	C	5: 124,132,775 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,717,824 (GRCm39)	P842S	probably damaging	Het
Lama1	G	T	17: 68,102,186 (GRCm39)		probably benign	Het
Lig3	T	C	11: 82,686,531 (GRCm39)		probably benign	Het
Lrp4	C	A	2: 91,307,055 (GRCm39)	T392K	probably benign	Het
Msl2	G	T	9: 100,957,430 (GRCm39)	R33S	probably benign	Het
Nrde2	T	A	12: 100,110,081 (GRCm39)	K317*	probably null	Het
Nub1	C	A	5: 24,897,812 (GRCm39)	A42D	probably damaging	Het
Obox2	T	C	7: 15,130,807 (GRCm39)	V13A	possibly damaging	Het
Or13p3	T	C	4: 118,566,696 (GRCm39)	F31L	probably damaging	Het
Or4k5	T	A	14: 50,385,835 (GRCm39)	K165N	probably benign	Het
Or5ac20	A	T	16: 59,104,478 (GRCm39)	C127*	probably null	Het
Phkb	T	C	8: 86,770,406 (GRCm39)	Y892H	probably benign	Het
Ptdss1	A	G	13: 67,124,824 (GRCm39)	Y341C	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Scn7a	T	C	2: 66,544,219 (GRCm39)	D424G	probably benign	Het
Scn9a	C	T	2: 66,370,903 (GRCm39)	R559Q	possibly damaging	Het
Sctr	G	A	1: 119,949,910 (GRCm39)	C33Y	probably damaging	Het
Sh2b2	G	T	5: 136,250,817 (GRCm39)	A419E	probably damaging	Het
Slc22a30	A	T	19: 8,347,449 (GRCm39)	M317K	probably damaging	Het
Slc39a4	T	C	15: 76,499,382 (GRCm39)	S178G	probably benign	Het
Slc7a12	T	A	3: 14,546,217 (GRCm39)	C121S	probably damaging	Het
Slmap	T	C	14: 26,191,533 (GRCm39)	S148G	possibly damaging	Het
Tent5a	A	T	9: 85,206,937 (GRCm39)	V287E	probably damaging	Het
Tktl2	A	G	8: 66,965,963 (GRCm39)	K507R	probably benign	Het
Ttn	T	G	2: 76,586,207 (GRCm39)	K21841N	probably damaging	Het
Ugcg	T	C	4: 59,220,346 (GRCm39)	Y380H	probably damaging	Het
Zfp106	T	C	2: 120,340,991 (GRCm39)	T1840A	probably damaging	Het
Zmynd8	T	C	2: 165,694,070 (GRCm39)		probably null	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
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

2015-12-18