Mutagenetix > Incidental Mutation

Incidental Mutation 'R9362:Arhgef17'

708749

Institutional Source

Beutler Lab

Gene Symbol

Arhgef17

Ensembl Gene

ENSMUSG00000032875

Gene Name

Rho guanine nucleotide exchange factor 17

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9362 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100518959-100581314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100580165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 261 (L261R)

Ref Sequence

ENSEMBL: ENSMUSP00000102647 (fasta)

Gene Model

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

AlphaFold

Q80U35

Predicted Effect

probably benign
Transcript: ENSMUST00000107032
AA Change: L261R

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: L261R

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,236,626 (GRCm39)	N798I	possibly damaging	Het
Ahdc1	G	A	4: 132,790,348 (GRCm39)	V530I	probably benign	Het
Bcr	C	A	10: 74,993,023 (GRCm39)	N839K	probably benign	Het
Bltp1	A	G	3: 37,011,162 (GRCm39)	T1786A	probably benign	Het
Bmpr1a	A	G	14: 34,156,360 (GRCm39)	I169T	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc88a	T	A	11: 29,453,922 (GRCm39)	L1695Q	probably null	Het
Cnr1	T	C	4: 33,944,038 (GRCm39)	I142T	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Elmod1	T	A	9: 53,833,304 (GRCm39)	D167V	possibly damaging	Het
Fam136a	C	T	6: 86,345,855 (GRCm39)	T124I	possibly damaging	Het
Galnt13	A	G	2: 54,623,064 (GRCm39)	D70G	probably benign	Het
Ggcx	T	G	6: 72,405,015 (GRCm39)	N474K	probably damaging	Het
Gm10295	C	A	7: 71,000,755 (GRCm39)		probably benign	Het
Gm5145	A	G	17: 20,791,342 (GRCm39)	H240R	probably damaging	Het
Gsr	A	T	8: 34,179,406 (GRCm39)	D338V	probably damaging	Het
Hcfc2	C	T	10: 82,574,258 (GRCm39)	P144L	probably damaging	Het
Igf2r	A	T	17: 12,941,062 (GRCm39)	I473N	probably benign	Het
Ighv5-8	A	T	12: 113,616,940 (GRCm39)	D107E	probably benign	Het
Il23r	T	A	6: 67,400,384 (GRCm39)	S649C	probably damaging	Het
Ltbp3	A	G	19: 5,803,697 (GRCm39)	D794G	probably benign	Het
Mapk3	A	G	7: 126,363,444 (GRCm39)	I273V		Het
Mycbp2	C	T	14: 103,497,642 (GRCm39)	V977I	probably damaging	Het
Myh7	A	G	14: 55,222,932 (GRCm39)	F758L	probably benign	Het
Myom1	A	T	17: 71,343,288 (GRCm39)	I162F	probably benign	Het
Ncor2	C	T	5: 125,095,265 (GRCm39)	C1541Y		Het
Nwd2	G	T	5: 63,961,747 (GRCm39)	D444Y	probably benign	Het
Obsl1	A	G	1: 75,482,391 (GRCm39)	Y160H	probably benign	Het
Or8u8	C	A	2: 86,011,732 (GRCm39)	C241F	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Sall2	T	A	14: 52,550,601 (GRCm39)	K865*	probably null	Het
Shank2	A	T	7: 143,963,271 (GRCm39)	D293V	probably damaging	Het
Sidt1	T	C	16: 44,078,316 (GRCm39)	Y649C	possibly damaging	Het
Slc11a2	T	C	15: 100,304,236 (GRCm39)	E154G	probably damaging	Het
Slc5a12	C	T	2: 110,447,044 (GRCm39)	T184I	probably damaging	Het
Slfn3	T	C	11: 83,103,807 (GRCm39)	I226T	probably benign	Het
Snapc4	T	A	2: 26,254,865 (GRCm39)	N1220Y	probably damaging	Het
Tars1	A	G	15: 11,387,616 (GRCm39)	C557R	probably damaging	Het
Tead2	A	G	7: 44,881,740 (GRCm39)	E402G	probably damaging	Het
Zfp37	G	A	4: 62,110,299 (GRCm39)	S296F	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
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
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'- TCCATTGAGGTTCTTGGAGAC -3'
(R):5'- AACGTGCTTTCCTCTGGCTG -3'

Sequencing Primer
(F):5'- AGACGTCGGAGGTTCGG -3'
(R):5'- CACCAGCAACAGGAGCGG -3'

Posted On

2022-04-18