Mutagenetix > Incidental Mutation

Incidental Mutation 'R8700:Arhgef39'

668986

Institutional Source

Beutler Lab

Gene Symbol

Arhgef39

Ensembl Gene

ENSMUSG00000051517

Gene Name

Rho guanine nucleotide exchange factor 39

Synonyms

E130306D19Rik

MMRRC Submission

068554-MU

Accession Numbers

Essential gene?

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

Stock #

R8700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43496142-43499695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43496715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 333 (Q333L)

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: Q333L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517
AA Change: Q333L

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

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

SMART Domains

Protein: ENSMUSP00000119911
Gene: ENSMUSG00000051517
AA Change: Q80L

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	T	A	11: 50,833,344 (GRCm39)	D86V	unknown	Het
Abtb2	C	A	2: 103,397,289 (GRCm39)	T73K	probably damaging	Het
Akr1c14	T	C	13: 4,131,157 (GRCm39)		probably benign	Het
Anapc7	T	A	5: 122,560,669 (GRCm39)	M10K	probably damaging	Het
Ano7	T	G	1: 93,316,329 (GRCm39)	I204S	probably damaging	Het
Art5	T	C	7: 101,748,862 (GRCm39)		probably benign	Het
Asah1	T	C	8: 41,813,312 (GRCm39)	T34A	probably benign	Het
Atp9b	T	C	18: 80,796,361 (GRCm39)	E894G		Het
Atxn7l3	A	T	11: 102,184,747 (GRCm39)	M126K	possibly damaging	Het
Cacna2d4	A	G	6: 119,258,654 (GRCm39)	D580G	probably damaging	Het
Calcoco2	T	A	11: 95,994,330 (GRCm39)	K74N	probably benign	Het
Ccdc163	T	C	4: 116,571,348 (GRCm39)		probably null	Het
Cep164	T	C	9: 45,686,667 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,833,892 (GRCm39)	N1215K	probably damaging	Het
Chsy3	T	C	18: 59,309,487 (GRCm39)	Y247H	probably damaging	Het
Clec16a	A	G	16: 10,506,422 (GRCm39)	Y714C	probably damaging	Het
Col12a1	A	G	9: 79,527,371 (GRCm39)	V2653A	probably benign	Het
Daam2	T	A	17: 49,803,180 (GRCm39)	K77N	probably damaging	Het
Dhx35	T	A	2: 158,682,552 (GRCm39)	M495K	possibly damaging	Het
Disp2	T	A	2: 118,620,340 (GRCm39)	C357*	probably null	Het
Dnah6	T	A	6: 73,052,873 (GRCm39)		probably benign	Het
Dnah7a	T	G	1: 53,535,088 (GRCm39)	D2724A	possibly damaging	Het
Entpd5	A	T	12: 84,443,508 (GRCm39)	D53E	probably damaging	Het
Fto	T	A	8: 92,249,461 (GRCm39)	I431N	probably damaging	Het
Gabrr2	T	C	4: 33,095,488 (GRCm39)	I459T	probably damaging	Het
Gm5565	T	A	5: 146,097,236 (GRCm39)	I29F	probably damaging	Het
Gm9195	C	T	14: 72,720,171 (GRCm39)	G87R	probably damaging	Het
Grin2a	T	C	16: 9,397,412 (GRCm39)	S892G	probably benign	Het
Katnip	A	G	7: 125,429,042 (GRCm39)		probably benign	Het
Mki67	T	C	7: 135,307,436 (GRCm39)	N106S		Het
Myo16	T	C	8: 10,463,172 (GRCm39)	S580P	unknown	Het
Neo1	A	G	9: 58,825,913 (GRCm39)	S672P	probably benign	Het
Nxph3	A	T	11: 95,401,706 (GRCm39)	V236E	probably damaging	Het
Or10j7	G	T	1: 173,011,429 (GRCm39)	P191T	probably benign	Het
Or7e171-ps1	A	C	9: 19,852,996 (GRCm39)	L247V	unknown	Het
Pcdhb14	T	C	18: 37,582,652 (GRCm39)	V586A	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pja2	C	T	17: 64,599,949 (GRCm39)	D512N	probably damaging	Het
Ppfibp2	A	G	7: 107,345,602 (GRCm39)	T875A	possibly damaging	Het
Ppp3cc	C	A	14: 70,474,001 (GRCm39)	C332F	probably damaging	Het
Pramel16	T	A	4: 143,675,701 (GRCm39)	H375L	possibly damaging	Het
Psg18	A	T	7: 18,087,550 (GRCm39)	V36D	probably damaging	Het
Ptprh	A	G	7: 4,567,190 (GRCm39)	S561P	probably damaging	Het
Rhbdf2	G	A	11: 116,498,230 (GRCm39)		probably benign	Het
Ripk2	T	A	4: 16,158,422 (GRCm39)	N61I	possibly damaging	Het
Setdb2	T	C	14: 59,654,888 (GRCm39)	Y318C	probably damaging	Het
Shc1	A	G	3: 89,334,740 (GRCm39)	D533G	possibly damaging	Het
Sirpb1a	T	C	3: 15,476,419 (GRCm39)	E193G	probably damaging	Het
Slc41a2	T	C	10: 83,152,097 (GRCm39)	E126G	probably damaging	Het
Spata31h1	A	T	10: 82,127,859 (GRCm39)	I1717N	possibly damaging	Het
Srms	C	A	2: 180,848,521 (GRCm39)	A413S	probably damaging	Het
Tob2	G	T	15: 81,735,802 (GRCm39)	R56S	probably damaging	Het
Unc119	T	C	11: 78,238,137 (GRCm39)	I105T	probably benign	Het
Unc13c	T	C	9: 73,479,679 (GRCm39)	I1742V	probably benign	Het
Vmn1r46	C	T	6: 89,953,325 (GRCm39)	T58I	probably benign	Het
Vmn2r81	G	T	10: 79,129,517 (GRCm39)	V803F	probably damaging	Het
Zfp365	T	C	10: 67,745,535 (GRCm39)	K81R	possibly damaging	Het
Zfp974	G	T	7: 27,609,472 (GRCm39)	T751K	possibly damaging	Het
Zfpl1	T	C	19: 6,132,464 (GRCm39)	N149S	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
R8474:Arhgef39	UTSW	4	43,498,015 (GRCm39)	missense	probably benign	0.00
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'- GTTCCACTGAGGCTCAATCG -3'
(R):5'- GCTGTCCTTTCCCCATGAGAAG -3'

Sequencing Primer
(F):5'- CTGAGGCTCAATCGAAGTACATTC -3'
(R):5'- TTCCCCATGAGAAGCTACTGC -3'

Posted On

2021-04-30