Mutagenetix > Incidental Mutation

Incidental Mutation 'R4289:Arhgef39'

322320

Institutional Source

Beutler Lab

Gene Symbol

Arhgef39

Ensembl Gene

ENSMUSG00000051517

Gene Name

Rho guanine nucleotide exchange factor 39

Synonyms

E130306D19Rik

MMRRC Submission

041654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4289 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

43496142-43499695 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 43497353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030181] [ENSMUST00000054538] [ENSMUST00000107922]

AlphaFold

Q66JY6

Predicted Effect

probably benign
Transcript: ENSMUST00000030181

SMART Domains

Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
coiled coil region	97	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054538

SMART Domains

Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
RhoGEF	26	196	4.92e-31	SMART
PH	228	333	5.71e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107922

SMART Domains

Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
coiled coil region	97	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157463

Predicted Effect

probably benign
Transcript: ENSMUST00000152134

SMART Domains

Protein: ENSMUSP00000119911
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
Blast:PH	2	82	7e-38	BLAST
SCOP:d1kz7a2	2	88	4e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136005

SMART Domains

Protein: ENSMUSP00000118144
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	53	153	2.5e-18	PFAM
PH	154	256	1.97e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226420

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	C	T	3: 32,766,263 (GRCm39)	T39M	possibly damaging	Het
Arhgdib	T	C	6: 136,901,156 (GRCm39)	N191S	probably benign	Het
Baz1a	G	A	12: 54,947,233 (GRCm39)	R1139C	probably damaging	Het
Cdhr5	A	T	7: 140,852,752 (GRCm39)	I78N	probably damaging	Het
Cfap97	T	A	8: 46,645,698 (GRCm39)	N525K	probably benign	Het
Cntn2	T	A	1: 132,455,481 (GRCm39)	Y252F	probably benign	Het
Cyp3a57	G	A	5: 145,286,207 (GRCm39)	G48S	probably damaging	Het
Cyp4v3	A	C	8: 45,781,260 (GRCm39)	F73V	possibly damaging	Het
Ear10	T	C	14: 44,160,404 (GRCm39)	D141G	probably benign	Het
Fbn2	T	C	18: 58,168,411 (GRCm39)	I2309V	probably damaging	Het
Fcrl5	A	G	3: 87,349,531 (GRCm39)	D102G	probably benign	Het
Fdxacb1	A	T	9: 50,683,879 (GRCm39)	Q614L	probably damaging	Het
Gm10267	T	C	18: 44,290,331 (GRCm39)	T59A	probably damaging	Het
Gm5581	C	T	6: 131,144,519 (GRCm39)		noncoding transcript	Het
Gm5592	G	T	7: 40,808,336 (GRCm39)		probably benign	Het
Gtf2a1l	A	G	17: 89,001,884 (GRCm39)	T200A	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ift122	T	C	6: 115,900,852 (GRCm39)	C1057R	probably damaging	Het
Kirrel3	A	T	9: 34,934,769 (GRCm39)	N73I	probably benign	Het
Kndc1	A	G	7: 139,490,798 (GRCm39)	I433M	probably benign	Het
Mks1	T	C	11: 87,747,530 (GRCm39)		probably benign	Het
Mmp14	A	T	14: 54,673,665 (GRCm39)	K110*	probably null	Het
Mms19	A	G	19: 41,933,992 (GRCm39)	L938P	probably damaging	Het
Mrpl36	A	T	13: 73,479,777 (GRCm39)		probably null	Het
Mypn	T	C	10: 62,966,961 (GRCm39)	E905G	probably damaging	Het
Ncam1	G	T	9: 49,468,472 (GRCm39)	T329N	probably damaging	Het
Nfkbie	T	C	17: 45,869,516 (GRCm39)	L157P	probably damaging	Het
Or14c45	T	A	7: 86,176,262 (GRCm39)	I99N	probably damaging	Het
Or4f47	T	A	2: 111,972,319 (GRCm39)	S10T	probably benign	Het
Pappa	C	T	4: 65,074,100 (GRCm39)	A218V	probably benign	Het
Plekhg5	T	C	4: 152,196,884 (GRCm39)	Y737H	probably benign	Het
Plod2	G	A	9: 92,485,041 (GRCm39)	R514Q	possibly damaging	Het
Plxnb1	C	T	9: 108,943,420 (GRCm39)	R1888W	probably damaging	Het
Prss45	A	G	9: 110,669,997 (GRCm39)	T269A	probably benign	Het
Ptpn13	A	G	5: 103,681,151 (GRCm39)	T784A	probably damaging	Het
Pycr3	T	C	15: 75,790,655 (GRCm39)	N68S	probably benign	Het
Rbis	T	C	3: 14,674,714 (GRCm39)	M1V	probably null	Het
Rdh14	A	T	12: 10,444,949 (GRCm39)	N267Y	probably benign	Het
Rph3a	G	A	5: 121,111,368 (GRCm39)	R71C	probably damaging	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Spata13	T	A	14: 60,928,523 (GRCm39)	V27E	probably damaging	Het
Tbc1d1	T	A	5: 64,417,771 (GRCm39)	S312T	probably damaging	Het
Tcp11l2	T	C	10: 84,440,937 (GRCm39)		probably null	Het
Trdn	C	T	10: 33,340,578 (GRCm39)	S604L	probably benign	Het
Ttn	T	C	2: 76,640,742 (GRCm39)	T13669A	probably benign	Het
Tyw3	A	T	3: 154,302,645 (GRCm39)	F30I	probably damaging	Het
Vmn1r227	G	T	17: 20,956,092 (GRCm39)		noncoding transcript	Het
Vmn2r74	C	T	7: 85,606,562 (GRCm39)	M261I	probably benign	Het
Zfp217	C	T	2: 169,956,707 (GRCm39)	G764S	probably benign	Het
Zfp267	A	G	3: 36,213,747 (GRCm39)	N27S	possibly damaging	Het
Zfp748	T	A	13: 67,689,202 (GRCm39)	H686L	probably damaging	Het

Other mutations in Arhgef39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Arhgef39	APN	4	43,499,502 (GRCm39)	missense	probably damaging	1.00
IGL01674:Arhgef39	APN	4	43,497,590 (GRCm39)	missense	probably damaging	0.98
IGL02134:Arhgef39	APN	4	43,497,578 (GRCm39)	splice site	probably null
kidd	UTSW	4	43,498,913 (GRCm39)	missense	possibly damaging	0.55
teach	UTSW	4	43,498,999 (GRCm39)	missense	probably damaging	1.00
R0384:Arhgef39	UTSW	4	43,498,613 (GRCm39)	missense	probably damaging	1.00
R0781:Arhgef39	UTSW	4	43,496,834 (GRCm39)	missense	probably benign	0.00
R1110:Arhgef39	UTSW	4	43,496,834 (GRCm39)	missense	probably benign	0.00
R1957:Arhgef39	UTSW	4	43,499,309 (GRCm39)	missense	probably damaging	1.00
R1966:Arhgef39	UTSW	4	43,496,710 (GRCm39)	missense	probably benign	0.00
R3087:Arhgef39	UTSW	4	43,497,581 (GRCm39)	critical splice donor site	probably null
R4426:Arhgef39	UTSW	4	43,497,112 (GRCm39)	missense	possibly damaging	0.53
R6481:Arhgef39	UTSW	4	43,498,580 (GRCm39)	splice site	probably null
R7105:Arhgef39	UTSW	4	43,498,913 (GRCm39)	missense	possibly damaging	0.55
R7394:Arhgef39	UTSW	4	43,499,532 (GRCm39)	missense	possibly damaging	0.90
R8187:Arhgef39	UTSW	4	43,498,999 (GRCm39)	missense	probably damaging	1.00
R8474:Arhgef39	UTSW	4	43,498,015 (GRCm39)	missense	probably benign	0.00
R8700:Arhgef39	UTSW	4	43,496,715 (GRCm39)	missense	probably benign
R8972:Arhgef39	UTSW	4	43,497,185 (GRCm39)	missense	probably benign
R9623:Arhgef39	UTSW	4	43,496,819 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCTTCAGCAGGTGCAGTG -3'
(R):5'- TTCAGGTAGACCGTGGACTC -3'

Sequencing Primer
(F):5'- CAGGTGCAGTGGGGGCC -3'
(R):5'- TGCTTATGCCAGCATGCTG -3'

Posted On

2015-06-20