Mutagenetix > Incidental Mutation

Incidental Mutation 'R6417:Arhgef17'

518113

Institutional Source

Beutler Lab

Gene Symbol

Arhgef17

Ensembl Gene

ENSMUSG00000032875

Gene Name

Rho guanine nucleotide exchange factor 17

Synonyms

MMRRC Submission

044559-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100518959-100581314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100579269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 560 (S560P)

Ref Sequence

ENSEMBL: ENSMUSP00000102647 (fasta)

Gene Model

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

AlphaFold

Q80U35

Predicted Effect

probably damaging
Transcript: ENSMUST00000107032
AA Change: S560P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: S560P

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

Meta Mutation Damage Score

0.1223

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.8%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,996,351 (GRCm39)	K1426E	possibly damaging	Het
Abra	C	T	15: 41,729,452 (GRCm39)	R316H	probably benign	Het
Adam7	T	A	14: 68,742,070 (GRCm39)	T729S	probably benign	Het
Asb13	G	A	13: 3,693,574 (GRCm39)	V111I	probably damaging	Het
Eif2ak2	A	C	17: 79,164,048 (GRCm39)	L439R	probably damaging	Het
Lrrk2	C	T	15: 91,696,549 (GRCm39)	R2446C	probably benign	Het
Map3k10	A	G	7: 27,362,709 (GRCm39)	F459S	probably damaging	Het
Med1	T	C	11: 98,048,054 (GRCm39)	D914G	probably damaging	Het
Or4d10	T	G	19: 12,051,324 (GRCm39)	K224T	probably benign	Het
Or5b24	A	C	19: 12,912,584 (GRCm39)	T161P	probably damaging	Het
Or8b39	T	A	9: 37,996,890 (GRCm39)	S253T	probably benign	Het
Or8b41	T	G	9: 38,054,611 (GRCm39)	L55R	probably damaging	Het
Or8k38	A	T	2: 86,488,510 (GRCm39)	C97*	probably null	Het
Pkd1l2	C	T	8: 117,740,638 (GRCm39)	C2153Y	probably damaging	Het
Plk5	T	C	10: 80,199,906 (GRCm39)	V471A	probably benign	Het
Scn1a	A	G	2: 66,103,542 (GRCm39)	I1906T	probably damaging	Het
Slc16a12	T	C	19: 34,650,097 (GRCm39)		probably null	Het
Slc25a23	T	C	17: 57,359,780 (GRCm39)	I324V	probably damaging	Het
Sord	A	T	2: 122,094,602 (GRCm39)	K330M	possibly damaging	Het
Srp54b	T	A	12: 55,296,855 (GRCm39)	F184L	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tcte1	A	G	17: 45,846,056 (GRCm39)	E220G	probably damaging	Het
Tfrc	C	T	16: 32,449,057 (GRCm39)	T732I	probably damaging	Het
Tnrc6a	A	G	7: 122,770,297 (GRCm39)	T696A	probably benign	Het
Ttn	A	G	2: 76,542,619 (GRCm39)	Y33456H	possibly damaging	Het
Unc45a	C	G	7: 79,989,400 (GRCm39)	E23Q	probably benign	Het
Urb2	C	T	8: 124,773,938 (GRCm39)	R1490W	probably damaging	Het
Wdr64	A	T	1: 175,553,956 (GRCm39)	D162V	probably damaging	Het
Zfp959	G	A	17: 56,205,094 (GRCm39)	G377D	probably damaging	Het
Zswim3	G	A	2: 164,662,653 (GRCm39)	V378M	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCGTCAGGTTGGACTCAG -3'
(R):5'- AGAGACTCACCATCAGCAGG -3'

Sequencing Primer
(F):5'- GACCGATGCCCTTGGGTCATATC -3'
(R):5'- GCAGGTAGCCCAATGGAACAATC -3'

Posted On

2018-05-24