Mutagenetix > Incidental Mutation

Incidental Mutation 'R8474:Arhgef39'

657155

Institutional Source

Beutler Lab

Gene Symbol

Arhgef39

Ensembl Gene

ENSMUSG00000051517

Gene Name

Rho guanine nucleotide exchange factor 39

Synonyms

E130306D19Rik

MMRRC Submission

067918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R8474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43496142-43499695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43498015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000055293 (fasta)

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
AA Change: V163A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517
AA Change: V163A

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

SMART Domains

Protein: ENSMUSP00000118144
Gene: ENSMUSG00000051517
AA Change: V131A

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,576,638 (GRCm39)	S975T	probably damaging	Het
Adgrg1	C	G	8: 95,729,936 (GRCm39)	T46S	probably damaging	Het
Akip1	T	A	7: 109,306,697 (GRCm39)	D131E	probably benign	Het
Atg2a	T	C	19: 6,301,433 (GRCm39)		probably null	Het
Bcam	A	T	7: 19,494,325 (GRCm39)	L357*	probably null	Het
Bcat2	A	G	7: 45,237,075 (GRCm39)	N194S	probably damaging	Het
Bcl2l14	T	C	6: 134,400,720 (GRCm39)	L47P	probably benign	Het
Cbln1	C	T	8: 88,198,673 (GRCm39)	A66T	possibly damaging	Het
Ccdc191	G	T	16: 43,710,262 (GRCm39)		probably benign	Het
Cd70	C	T	17: 57,456,468 (GRCm39)	S45N	possibly damaging	Het
Cfap43	G	A	19: 47,886,363 (GRCm39)	A84V	probably benign	Het
Clca3a1	T	A	3: 144,710,792 (GRCm39)	N804Y	possibly damaging	Het
Cmah	A	T	13: 24,601,350 (GRCm39)	N52I	probably damaging	Het
Crot	A	G	5: 9,043,518 (GRCm39)	Y35H	probably damaging	Het
Cyp3a59	C	A	5: 146,041,487 (GRCm39)	P344T	probably benign	Het
Dnah5	A	G	15: 28,247,978 (GRCm39)	E705G	probably benign	Het
Dnm2	A	G	9: 21,377,016 (GRCm39)	Y125C	probably damaging	Het
Dst	A	G	1: 34,208,266 (GRCm39)	Y739C	probably damaging	Het
Eif3a	A	T	19: 60,767,929 (GRCm39)	M203K	possibly damaging	Het
Enpep	C	T	3: 129,113,076 (GRCm39)	V283M	probably damaging	Het
Ephx3	A	G	17: 32,407,219 (GRCm39)	S240P	probably damaging	Het
Evi5l	T	C	8: 4,260,784 (GRCm39)	H1011R	possibly damaging	Het
Fig4	A	T	10: 41,108,170 (GRCm39)	F677I	probably benign	Het
Gramd1b	A	G	9: 40,287,207 (GRCm39)		probably null	Het
Gse1	C	T	8: 121,295,123 (GRCm39)		probably benign	Het
Hoxa9	A	G	6: 52,202,506 (GRCm39)		probably null	Het
Ice1	A	T	13: 70,752,566 (GRCm39)	S1173R	probably benign	Het
Ifi207	G	A	1: 173,556,605 (GRCm39)	T718I	possibly damaging	Het
Ifit1bl1	A	G	19: 34,572,262 (GRCm39)	L65P	probably damaging	Het
Impact	T	C	18: 13,107,798 (GRCm39)	I22T	probably damaging	Het
Lrp1	A	G	10: 127,375,572 (GRCm39)	C4409R	probably damaging	Het
Mark1	A	G	1: 184,651,783 (GRCm39)	W131R	probably damaging	Het
Mindy3	T	C	2: 12,404,839 (GRCm39)	T190A	probably damaging	Het
Mybbp1a	A	G	11: 72,338,563 (GRCm39)	D721G	probably benign	Het
Myo1d	A	G	11: 80,561,745 (GRCm39)	V466A	possibly damaging	Het
Myo5b	A	C	18: 74,903,411 (GRCm39)	D1809A	probably damaging	Het
Nudcd2	C	T	11: 40,624,850 (GRCm39)	Q20*	probably null	Het
Or4f62	T	C	2: 111,986,320 (GRCm39)	M8T	probably benign	Het
Or5b101	A	G	19: 13,005,357 (GRCm39)	L112P	probably damaging	Het
Or8g2b	T	A	9: 39,751,048 (GRCm39)	L106H	possibly damaging	Het
Pcif1	A	T	2: 164,730,272 (GRCm39)	D335V	probably damaging	Het
Pebp4	T	A	14: 70,085,136 (GRCm39)	C65S	possibly damaging	Het
Ptger1	C	T	8: 84,395,267 (GRCm39)	A248V	probably benign	Het
Qki	A	T	17: 10,537,747 (GRCm39)	M19K	probably benign	Het
Ralgapa2	C	G	2: 146,266,750 (GRCm39)	A609P	probably damaging	Het
Robo2	C	T	16: 73,745,150 (GRCm39)	G875D	probably damaging	Het
Runx2	A	G	17: 44,919,147 (GRCm39)	V375A	probably damaging	Het
Sis	A	T	3: 72,836,730 (GRCm39)	F841I	probably damaging	Het
Slc5a8	A	G	10: 88,757,552 (GRCm39)	D514G	possibly damaging	Het
Spag17	A	T	3: 99,934,586 (GRCm39)	T623S	probably benign	Het
Sppl2c	A	G	11: 104,078,963 (GRCm39)	S588G	probably benign	Het
Stxbp6	A	C	12: 44,949,704 (GRCm39)	V75G	possibly damaging	Het
Tmc3	G	A	7: 83,259,122 (GRCm39)	R531Q	probably damaging	Het
Tmem258	T	C	19: 10,184,550 (GRCm39)	Y41H	probably damaging	Het
Tsks	A	T	7: 44,600,263 (GRCm39)	T91S	probably damaging	Het
Vmn2r23	T	C	6: 123,681,599 (GRCm39)	V169A	probably benign	Het
Wdr54	T	C	6: 83,129,985 (GRCm39)	N282S	probably benign	Het
Yme1l1	T	A	2: 23,052,584 (GRCm39)	N79K	probably benign	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
R4289:Arhgef39	UTSW	4	43,497,353 (GRCm39)	unclassified	probably benign
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
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'- GCTTCTTGAAGAATGGGCAGG -3'
(R):5'- GCCTCCTGATTCTTCAGTGTAG -3'

Sequencing Primer
(F):5'- GGCAGGGCAGTTAGGGC -3'
(R):5'- GTAATGTGACCCCAGGTTCAGAGTC -3'

Posted On

2021-01-18