Mutagenetix > Incidental Mutation

Incidental Mutation 'R0781:Arhgef39'

76616

Institutional Source

Beutler Lab

Gene Symbol

Arhgef39

Ensembl Gene

ENSMUSG00000051517

Gene Name

Rho guanine nucleotide exchange factor 39

Synonyms

E130306D19Rik

MMRRC Submission

038961-MU

Accession Numbers

Essential gene?

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

Stock #

R0781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43496142-43499695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43496834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 327 (T327A)

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: T327A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517
AA Change: T327A

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

unknown
Transcript: ENSMUST00000136005
AA Change: T252A

SMART Domains

Protein: ENSMUSP00000118144
Gene: ENSMUSG00000051517
AA Change: T252A

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

Predicted Effect

unknown
Transcript: ENSMUST00000152134
AA Change: T75A

SMART Domains

Protein: ENSMUSP00000119911
Gene: ENSMUSG00000051517
AA Change: T75A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226420

Meta Mutation Damage Score

0.0668

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.2%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,935,180 (GRCm39)	A98S	probably benign	Het
Acp2	A	G	2: 91,038,767 (GRCm39)		probably null	Het
Akap13	T	G	7: 75,261,125 (GRCm39)	S447A	possibly damaging	Het
Alk	G	A	17: 72,291,740 (GRCm39)		probably benign	Het
Ankrd55	A	G	13: 112,517,767 (GRCm39)		probably benign	Het
Calhm5	T	G	10: 33,972,013 (GRCm39)	I141L	probably benign	Het
Cdan1	G	A	2: 120,551,083 (GRCm39)	A1103V	probably damaging	Het
Cdk17	T	A	10: 93,074,895 (GRCm39)	Y3*	probably null	Het
Cdon	T	C	9: 35,367,733 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,222,119 (GRCm39)	N460I	probably benign	Het
Cntrl	T	A	2: 35,050,639 (GRCm39)	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,443,574 (GRCm39)	E497G	probably benign	Het
Crybg1	A	G	10: 43,875,089 (GRCm39)	M673T	possibly damaging	Het
Csmd1	A	C	8: 15,971,174 (GRCm39)	I3047S	probably benign	Het
Cyp2u1	A	G	3: 131,087,258 (GRCm39)	I441T	possibly damaging	Het
Disp2	T	C	2: 118,620,920 (GRCm39)	S551P	probably damaging	Het
Dstyk	A	G	1: 132,381,063 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,868,557 (GRCm39)	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838 (GRCm39)	C613Y	probably damaging	Het
Gdf7	C	A	12: 8,351,555 (GRCm39)		probably benign	Het
Hnrnpul2	A	G	19: 8,804,110 (GRCm39)	R570G	probably damaging	Het
Ift70a1	A	T	2: 75,810,320 (GRCm39)	C588S	probably damaging	Het
Iqcf4	T	C	9: 106,445,860 (GRCm39)	I96V	probably benign	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Itpr3	C	T	17: 27,329,529 (GRCm39)	H1518Y	probably benign	Het
Kdm5d	T	A	Y: 910,539 (GRCm39)	L250H	probably damaging	Het
Kntc1	C	T	5: 123,937,965 (GRCm39)		probably benign	Het
Lmtk3	T	A	7: 45,444,427 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,735,999 (GRCm39)	D93G	probably benign	Het
Ncoa6	A	T	2: 155,253,440 (GRCm39)		probably benign	Het
Nudt7	G	A	8: 114,862,111 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,563,563 (GRCm39)		probably benign	Het
Oit3	G	A	10: 59,264,016 (GRCm39)	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,849,765 (GRCm39)	I494L	probably damaging	Het
Opa3	A	G	7: 18,962,524 (GRCm39)		probably benign	Het
Or51e2	A	G	7: 102,392,214 (GRCm39)		probably benign	Het
Or5ac15	A	T	16: 58,940,187 (GRCm39)	V82D	probably damaging	Het
Or9r7	A	G	10: 129,962,522 (GRCm39)	Y135H	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp6	G	T	9: 59,556,847 (GRCm39)	C584F	probably damaging	Het
Pcgf2	A	G	11: 97,582,676 (GRCm39)		probably benign	Het
Pde3a	T	C	6: 141,405,042 (GRCm39)		probably benign	Het
Pitrm1	A	G	13: 6,608,280 (GRCm39)	D335G	probably benign	Het
Pkhd1	A	T	1: 20,187,708 (GRCm39)	N3533K	probably benign	Het
Pkp4	T	C	2: 59,169,109 (GRCm39)	L752P	probably damaging	Het
Plcb3	C	A	19: 6,939,281 (GRCm39)	E566*	probably null	Het
Ppef2	T	C	5: 92,392,689 (GRCm39)	K261R	probably benign	Het
Prdm14	A	G	1: 13,184,585 (GRCm39)	S529P	probably damaging	Het
Prune2	T	C	19: 17,102,586 (GRCm39)	S2582P	probably benign	Het
Sardh	G	A	2: 27,081,931 (GRCm39)	T865I	possibly damaging	Het
Slc26a3	A	T	12: 31,515,812 (GRCm39)	I571F	possibly damaging	Het
Slc5a5	A	T	8: 71,342,864 (GRCm39)	M232K	probably benign	Het
Slc9a1	T	A	4: 133,097,859 (GRCm39)	M2K	probably benign	Het
Spata31e3	A	T	13: 50,402,296 (GRCm39)	D83E	possibly damaging	Het
Ss18l1	G	A	2: 179,697,647 (GRCm39)	S177N	possibly damaging	Het
Svs5	A	T	2: 164,175,507 (GRCm39)	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,126,074 (GRCm39)	V19F	probably damaging	Het
Tmem108	C	T	9: 103,361,889 (GRCm39)	V566M	probably damaging	Het
Trmu	C	A	15: 85,763,604 (GRCm39)	C9*	probably null	Het
Vnn1	A	T	10: 23,775,499 (GRCm39)	I250F	possibly damaging	Het
Vps13c	T	A	9: 67,879,285 (GRCm39)	Y3409N	probably damaging	Het
Xrn1	T	A	9: 95,873,322 (GRCm39)	N695K	probably benign	Het
Zfp84	T	A	7: 29,470,797 (GRCm39)	M1K	probably null	Het
Zfyve26	G	A	12: 79,326,841 (GRCm39)	R761C	probably damaging	Het
Zp3r	A	G	1: 130,505,621 (GRCm39)		probably null	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
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
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'- AAGATTCTTCATAGGCACACCCAGC -3'
(R):5'- TGTAGACCAGCCCATCACTTGAGC -3'

Sequencing Primer
(F):5'- CTGCCATGTGTATCCCAGGATAG -3'
(R):5'- GCCTGACTTGCTCTGAACTA -3'

Posted On

2013-10-16