Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Arhgef15'

373257

Institutional Source

Beutler Lab

Gene Symbol

Arhgef15

Ensembl Gene

ENSMUSG00000052921

Gene Name

Rho guanine nucleotide exchange factor 15

Synonyms

D530030K12Rik

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4836 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

68833981-68848306 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 68840751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065040] [ENSMUST00000108671]

AlphaFold

Q5FWH6

Predicted Effect

probably benign
Transcript: ENSMUST00000065040

SMART Domains

Protein: ENSMUSP00000067684
Gene: ENSMUSG00000052921

Domain	Start	End	E-Value	Type
low complexity region	6	36	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
low complexity region	335	349	N/A	INTRINSIC
RhoGEF	429	608	1.76e-50	SMART
low complexity region	670	680	N/A	INTRINSIC
Blast:RhoGEF	688	746	1e-22	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108670

Predicted Effect

probably benign
Transcript: ENSMUST00000108671

SMART Domains

Protein: ENSMUSP00000104311
Gene: ENSMUSG00000052921

Domain	Start	End	E-Value	Type
low complexity region	6	36	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
low complexity region	335	349	N/A	INTRINSIC
RhoGEF	429	608	1.76e-50	SMART
low complexity region	670	680	N/A	INTRINSIC
Blast:RhoGEF	688	746	1e-22	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151520

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock out allele exhibit increased excitatory synapse formation. Mice homozygous for a knock-out allele exhibit delayed radial growth, sparse vasculature and empty baselment membrane sleeves in the retina. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,066,152 (GRCm39)	S453T	probably benign	Het
Ahnak2	A	T	12: 112,740,550 (GRCm39)	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,745,134 (GRCm39)	Y448F	probably damaging	Het
Atg2b	T	C	12: 105,613,073 (GRCm39)	N1166S	probably benign	Het
Atl3	C	T	19: 7,486,910 (GRCm39)	R77*	probably null	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Ccnt1	C	A	15: 98,465,444 (GRCm39)	R25L	probably damaging	Het
Cct4	A	G	11: 22,952,898 (GRCm39)	T525A	probably benign	Het
Cep350	T	C	1: 155,804,579 (GRCm39)	I835V	probably damaging	Het
Cimap2	T	A	4: 106,467,724 (GRCm39)		probably null	Het
Clcn1	G	T	6: 42,286,898 (GRCm39)	V652L	probably damaging	Het
Cntln	T	A	4: 84,967,957 (GRCm39)	Y725*	probably null	Het
Cog5	T	C	12: 31,969,732 (GRCm39)	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,088,406 (GRCm39)		probably benign	Het
Dnm2	A	T	9: 21,402,626 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,819,854 (GRCm39)	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,927,106 (GRCm39)	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,066,867 (GRCm39)	V129M	probably damaging	Het
Epha3	A	T	16: 63,403,920 (GRCm39)	M726K	probably damaging	Het
Fat3	A	G	9: 16,289,019 (GRCm39)	L168P	probably damaging	Het
Frem3	T	A	8: 81,390,026 (GRCm39)	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,498,153 (GRCm39)	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,122,392 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,864,958 (GRCm39)		probably benign	Het
H1f9	T	A	11: 94,858,843 (GRCm39)	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Isl1	A	G	13: 116,439,619 (GRCm39)	M243T	probably benign	Het
Itpr1	A	T	6: 108,366,498 (GRCm39)	I142F	probably damaging	Het
Jak1	T	C	4: 101,012,263 (GRCm39)	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,069,225 (GRCm39)	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,389,363 (GRCm39)	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,521,053 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,713 (GRCm39)	F171L	possibly damaging	Het
Map1b	A	G	13: 99,567,562 (GRCm39)	S1720P	unknown	Het
Mcpt1	A	T	14: 56,257,017 (GRCm39)	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,027 (GRCm39)	D238E	possibly damaging	Het
Mov10l1	A	T	15: 88,904,472 (GRCm39)	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,933,752 (GRCm39)	P101S	probably damaging	Het
Myh3	G	T	11: 66,987,765 (GRCm39)	A1413S	probably benign	Het
Naa80	A	T	9: 107,460,738 (GRCm39)	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or12j4	A	G	7: 140,046,989 (GRCm39)	R292G	probably damaging	Het
Or2t48	A	C	11: 58,420,308 (GRCm39)	M168R	probably damaging	Het
Or4a66	A	G	2: 88,531,544 (GRCm39)	I43T	probably damaging	Het
Or5g9	A	G	2: 85,551,793 (GRCm39)	I15V	probably benign	Het
Or8k22	A	T	2: 86,163,571 (GRCm39)	M43K	probably benign	Het
Or8k23	G	A	2: 86,186,094 (GRCm39)	L211F	probably benign	Het
Palld	T	A	8: 62,140,415 (GRCm39)	T531S	probably benign	Het
Parp4	A	G	14: 56,823,195 (GRCm39)	E105G	probably benign	Het
Phf11a	A	T	14: 59,525,028 (GRCm39)	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Rad50	A	T	11: 53,541,480 (GRCm39)	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,624,761 (GRCm39)		probably null	Het
Rrbp1	G	A	2: 143,830,337 (GRCm39)	T610I	possibly damaging	Het
Scart2	T	C	7: 139,879,021 (GRCm39)	I1051T	probably benign	Het
Semp2l2a	C	T	8: 13,888,007 (GRCm39)	S28N	probably benign	Het
Slc4a10	A	G	2: 62,098,531 (GRCm39)	Y555C	probably damaging	Het
Slc5a2	A	G	7: 127,866,677 (GRCm39)		probably null	Het
Smoc1	T	A	12: 81,226,322 (GRCm39)	D371E	probably damaging	Het
Stmn1	T	A	4: 134,197,495 (GRCm39)		probably benign	Het
Sulf1	C	T	1: 12,912,910 (GRCm39)	L715F	probably benign	Het
Surf1	T	C	2: 26,804,255 (GRCm39)	T180A	possibly damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	T	3: 93,352,455 (GRCm39)	R632W	unknown	Het
Tchh	A	T	3: 93,354,895 (GRCm39)	D1445V	unknown	Het
Tctn1	A	T	5: 122,383,568 (GRCm39)	M505K	probably benign	Het
Tdrkh	T	A	3: 94,332,897 (GRCm39)	I150N	probably damaging	Het
Tespa1	C	T	10: 130,198,028 (GRCm39)	T350I	probably benign	Het
Thbs1	A	G	2: 117,945,499 (GRCm39)	Y326C	possibly damaging	Het
Tmem208	C	T	8: 106,055,296 (GRCm39)	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,329,588 (GRCm39)	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,259,147 (GRCm39)	R67W	probably damaging	Het
Ttn	A	G	2: 76,541,541 (GRCm39)	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,265,468 (GRCm39)	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137 (GRCm39)	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,272,291 (GRCm39)	I82L	probably benign	Het
Zfp65	A	G	13: 67,856,994 (GRCm39)	V95A	probably benign	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably damaging	Het

Other mutations in Arhgef15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Arhgef15	APN	11	68,844,928 (GRCm39)	missense	probably damaging	1.00
IGL02382:Arhgef15	APN	11	68,844,856 (GRCm39)	missense	probably damaging	0.98
R0041:Arhgef15	UTSW	11	68,845,342 (GRCm39)	missense	possibly damaging	0.92
R0208:Arhgef15	UTSW	11	68,837,199 (GRCm39)	missense	probably benign	0.09
R0276:Arhgef15	UTSW	11	68,844,298 (GRCm39)	splice site	probably benign
R0368:Arhgef15	UTSW	11	68,845,519 (GRCm39)	missense	probably damaging	0.99
R0706:Arhgef15	UTSW	11	68,845,402 (GRCm39)	missense	probably damaging	1.00
R1628:Arhgef15	UTSW	11	68,835,640 (GRCm39)	missense	possibly damaging	0.86
R1966:Arhgef15	UTSW	11	68,845,501 (GRCm39)	missense	probably damaging	1.00
R2105:Arhgef15	UTSW	11	68,838,507 (GRCm39)	splice site	probably null
R2278:Arhgef15	UTSW	11	68,842,517 (GRCm39)	missense	probably damaging	1.00
R4667:Arhgef15	UTSW	11	68,845,387 (GRCm39)	missense	probably benign	0.00
R4898:Arhgef15	UTSW	11	68,842,171 (GRCm39)	missense	probably benign	0.00
R4966:Arhgef15	UTSW	11	68,838,143 (GRCm39)	missense	probably benign	0.08
R5304:Arhgef15	UTSW	11	68,838,063 (GRCm39)	missense	probably null	0.32
R5333:Arhgef15	UTSW	11	68,838,022 (GRCm39)	intron	probably benign
R5546:Arhgef15	UTSW	11	68,844,877 (GRCm39)	missense	probably benign	0.01
R5632:Arhgef15	UTSW	11	68,844,877 (GRCm39)	missense	probably benign	0.01
R5707:Arhgef15	UTSW	11	68,845,541 (GRCm39)	missense	probably damaging	0.98
R5839:Arhgef15	UTSW	11	68,844,982 (GRCm39)	missense	probably benign	0.00
R5926:Arhgef15	UTSW	11	68,842,781 (GRCm39)	missense	possibly damaging	0.76
R6376:Arhgef15	UTSW	11	68,845,796 (GRCm39)	missense	unknown
R6429:Arhgef15	UTSW	11	68,838,622 (GRCm39)	missense	probably damaging	1.00
R6526:Arhgef15	UTSW	11	68,840,820 (GRCm39)	missense	probably damaging	1.00
R6749:Arhgef15	UTSW	11	68,845,383 (GRCm39)	missense	probably damaging	0.99
R7460:Arhgef15	UTSW	11	68,837,861 (GRCm39)	missense	probably damaging	1.00
R7529:Arhgef15	UTSW	11	68,844,848 (GRCm39)	missense	probably damaging	1.00
R7598:Arhgef15	UTSW	11	68,837,236 (GRCm39)	missense	probably damaging	1.00
R7767:Arhgef15	UTSW	11	68,844,673 (GRCm39)	missense	probably damaging	0.99
R7919:Arhgef15	UTSW	11	68,838,431 (GRCm39)	missense	probably benign	0.00
R8488:Arhgef15	UTSW	11	68,838,496 (GRCm39)	critical splice acceptor site	probably null
R8818:Arhgef15	UTSW	11	68,841,938 (GRCm39)	missense	probably damaging	0.99
R9415:Arhgef15	UTSW	11	68,842,233 (GRCm39)	missense	probably damaging	1.00
R9663:Arhgef15	UTSW	11	68,845,255 (GRCm39)	missense	probably damaging	1.00
X0067:Arhgef15	UTSW	11	68,835,656 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCTCTCAGCCTACTCTACAG -3'
(R):5'- GGATACAAACGTGCGCTTC -3'

Sequencing Primer
(F):5'- TGGCCCTTTAAAGTTCACAAACG -3'
(R):5'- GCTTCTCCGCAGAGCTG -3'

Posted On

2016-03-01