Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Arhgef17'

201618

Institutional Source

Beutler Lab

Gene Symbol

Arhgef17

Ensembl Gene

ENSMUSG00000032875

Gene Name

Rho guanine nucleotide exchange factor 17

Synonyms

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1789 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

100518959-100581314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100579077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 624 (S624P)

Ref Sequence

ENSEMBL: ENSMUSP00000102647 (fasta)

Gene Model

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

AlphaFold

Q80U35

Predicted Effect

probably damaging
Transcript: ENSMUST00000107032
AA Change: S624P

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

SMART Domains

Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: S624P

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

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,184,701 (GRCm39)	P986L	probably damaging	Het
Acad10	A	T	5: 121,769,456 (GRCm39)	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,839,014 (GRCm39)	G121D	probably benign	Het
Ampd1	T	A	3: 103,006,442 (GRCm39)	I690N	possibly damaging	Het
Amy1	C	A	3: 113,351,814 (GRCm39)	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,223,831 (GRCm39)	V823E	probably damaging	Het
Arid5b	T	C	10: 68,021,897 (GRCm39)	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,579,386 (GRCm39)	T78N	probably damaging	Het
Auts2	T	A	5: 131,501,288 (GRCm39)	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,473,045 (GRCm39)	D158G	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap61	T	C	2: 145,781,913 (GRCm39)		probably null	Het
Chrna5	T	C	9: 54,911,935 (GRCm39)	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,320,916 (GRCm39)	G163R	probably damaging	Het
Col5a2	A	G	1: 45,417,465 (GRCm39)		probably null	Het
Col5a2	T	C	1: 45,433,936 (GRCm39)	Q759R	probably damaging	Het
Comp	A	G	8: 70,829,796 (GRCm39)	D340G	probably benign	Het
Cyfip1	T	A	7: 55,576,143 (GRCm39)	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,002,515 (GRCm39)	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,572 (GRCm39)	H958R	probably benign	Het
Elp3	A	G	14: 65,785,368 (GRCm39)	Y478H	probably damaging	Het
Fam237b	A	T	5: 5,625,652 (GRCm39)	Q116L	possibly damaging	Het
Fat3	T	C	9: 16,288,281 (GRCm39)	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389 (GRCm39)	A574S	probably damaging	Het
Fsip2	G	T	2: 82,807,906 (GRCm39)	L1408F	probably benign	Het
Fubp3	T	C	2: 31,501,747 (GRCm39)	V425A	possibly damaging	Het
Gm7168	A	T	17: 14,169,846 (GRCm39)	R404S	probably benign	Het
Gpd1	T	G	15: 99,621,083 (GRCm39)	F299C	probably damaging	Het
Gpr137	C	T	19: 6,919,425 (GRCm39)		probably benign	Het
Grin3b	T	C	10: 79,809,242 (GRCm39)	S331P	probably benign	Het
Grk3	T	A	5: 113,089,584 (GRCm39)	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,177,607 (GRCm39)	S18R	probably damaging	Het
Igf1r	C	T	7: 67,864,681 (GRCm39)	R1160*	probably null	Het
Itfg1	A	G	8: 86,452,141 (GRCm39)		probably null	Het
Itgb8	T	C	12: 119,166,190 (GRCm39)	I114V	probably benign	Het
Kcnk1	A	G	8: 126,752,123 (GRCm39)	E243G	possibly damaging	Het
Kif27	A	G	13: 58,491,822 (GRCm39)	L439P	probably damaging	Het
Kif2c	T	A	4: 117,024,558 (GRCm39)	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,749,955 (GRCm39)		probably benign	Het
L3mbtl1	A	G	2: 162,816,422 (GRCm39)	T821A	probably benign	Het
Lrrc24	A	T	15: 76,606,778 (GRCm39)	M206K	probably benign	Het
Mamdc4	T	G	2: 25,457,634 (GRCm39)	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,608,641 (GRCm39)	L30V	probably damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Myo10	T	G	15: 25,726,611 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,246,066 (GRCm39)	L419Q	probably damaging	Het
Myo6	C	A	9: 80,207,854 (GRCm39)	H1115Q	probably damaging	Het
Myo7a	A	G	7: 97,756,302 (GRCm39)	V10A	probably damaging	Het
Myoz2	C	T	3: 122,819,776 (GRCm39)	R61H	probably damaging	Het
Ncdn	G	A	4: 126,645,796 (GRCm39)	R38C	probably damaging	Het
Nckap1	T	A	2: 80,350,900 (GRCm39)	T736S	probably benign	Het
Ncor2	G	A	5: 125,096,954 (GRCm39)	A2325V	probably damaging	Het
Nid2	T	A	14: 19,802,499 (GRCm39)	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,915 (GRCm39)	D704Y	probably benign	Het
Notch3	T	A	17: 32,377,699 (GRCm39)	S126C	probably damaging	Het
Or2g7	T	C	17: 38,378,839 (GRCm39)	I259T	probably damaging	Het
Or5p60	A	G	7: 107,724,122 (GRCm39)	F116S	probably benign	Het
Or5w10	A	T	2: 87,375,327 (GRCm39)	L187H	probably damaging	Het
Or6c219	A	T	10: 129,781,451 (GRCm39)	L160*	probably null	Het
Or6c6c	T	C	10: 129,541,476 (GRCm39)	M243T	possibly damaging	Het
Or6d15	A	C	6: 116,559,658 (GRCm39)	F83C	probably damaging	Het
Pdzd7	A	G	19: 45,027,667 (GRCm39)	I269T	probably damaging	Het
Phf3	A	T	1: 30,845,287 (GRCm39)	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,012,403 (GRCm39)	Y271N	probably damaging	Het
Polk	T	C	13: 96,633,140 (GRCm39)	E301G	probably damaging	Het
Prkdc	C	A	16: 15,557,388 (GRCm39)	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,622 (GRCm39)	E170G	probably benign	Het
Prss55	A	G	14: 64,313,179 (GRCm39)	I235T	probably damaging	Het
Psd3	T	C	8: 68,413,217 (GRCm39)	I724V	probably benign	Het
Rabep2	A	G	7: 126,037,971 (GRCm39)	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,354,509 (GRCm39)	K949N	probably benign	Het
Rnf213	T	A	11: 119,331,047 (GRCm39)	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,378,003 (GRCm39)	H232L	possibly damaging	Het
Slu7	A	G	11: 43,336,069 (GRCm39)	Q484R	probably benign	Het
Smg1	A	G	7: 117,745,021 (GRCm39)	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,405,336 (GRCm39)	D248G	possibly damaging	Het
Snrpc	C	A	17: 28,064,193 (GRCm39)	P66Q	unknown	Het
Snrpn	T	A	7: 59,633,207 (GRCm39)		probably benign	Het
Spag17	T	A	3: 99,846,672 (GRCm39)	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,776,408 (GRCm39)		probably benign	Het
Stil	T	A	4: 114,898,979 (GRCm39)	M1203K	probably benign	Het
Syt17	T	C	7: 118,036,061 (GRCm39)	T106A	probably benign	Het
Tbx15	C	T	3: 99,259,562 (GRCm39)	Q478*	probably null	Het
Tg	A	T	15: 66,609,397 (GRCm39)	Q319L	probably benign	Het
Thada	A	G	17: 84,755,461 (GRCm39)	L243P	probably damaging	Het
Thada	G	T	17: 84,755,462 (GRCm39)	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,066,101 (GRCm39)	R211G	probably damaging	Het
Togaram1	A	T	12: 65,049,409 (GRCm39)	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,552,379 (GRCm39)	M91R	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll7	T	G	3: 146,621,535 (GRCm39)	L378R	probably damaging	Het
Tyw1	T	G	5: 130,287,834 (GRCm39)	I22R	probably damaging	Het
Ubr3	T	C	2: 69,846,711 (GRCm39)	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,120,364 (GRCm39)	L263P	probably damaging	Het
Unc13c	T	C	9: 73,663,621 (GRCm39)	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,383,122 (GRCm39)	D157E	possibly damaging	Het
Vps16	C	T	2: 130,285,520 (GRCm39)	T821I	probably benign	Het
Washc4	T	C	10: 83,415,389 (GRCm39)	V793A	possibly damaging	Het
Wdr35	G	T	12: 9,027,435 (GRCm39)		probably null	Het
Zfp277	A	G	12: 40,414,084 (GRCm39)	F254L	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
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

Predicted Primers

PCR Primer
(F):5'- GAAGGTGGCACTTTTCGTCTCC -3'
(R):5'- TGAAGCCTAGCTCCTCAGAG -3'

Sequencing Primer
(F):5'- TCTCAGGAGACACAAGGGCC -3'
(R):5'- AGAGCTCCTACTGGCAGGTTC -3'

Posted On

2014-06-23