Mutagenetix > Incidental Mutation

Incidental Mutation 'R7105:Arhgef39'

551091

Institutional Source

Beutler Lab

Gene Symbol

Arhgef39

Ensembl Gene

ENSMUSG00000051517

Gene Name

Rho guanine nucleotide exchange factor 39

Synonyms

E130306D19Rik

MMRRC Submission

045197-MU

Accession Numbers

Essential gene?

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

Stock #

R7105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43496142-43499695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43498913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 113 (S113P)

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

possibly damaging
Transcript: ENSMUST00000054538
AA Change: S113P

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517
AA Change: S113P

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: S81P

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

Meta Mutation Damage Score

0.5430

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,347,842 (GRCm39)	I3565N	probably damaging	Het
Adam8	T	C	7: 139,569,968 (GRCm39)	E99G	probably benign	Het
Adnp2	A	C	18: 80,171,366 (GRCm39)	H1014Q	possibly damaging	Het
Agbl4	T	A	4: 111,423,920 (GRCm39)	N315K	probably benign	Het
Ankrd33b	G	T	15: 31,305,214 (GRCm39)	N183K	probably damaging	Het
Bdp1	G	A	13: 100,206,689 (GRCm39)	P618S	probably damaging	Het
Bhlhe40	C	T	6: 108,641,997 (GRCm39)	P314S	possibly damaging	Het
Birc2	A	C	9: 7,819,442 (GRCm39)	I490S	probably damaging	Het
Blm	T	C	7: 80,149,516 (GRCm39)	I698V	probably benign	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
Car12	A	G	9: 66,659,688 (GRCm39)	T238A	probably damaging	Het
Cend1	G	A	7: 141,007,565 (GRCm39)	P85L	probably benign	Het
Cftr	A	T	6: 18,318,971 (GRCm39)	D1337V	probably damaging	Het
Chsy3	T	A	18: 59,309,491 (GRCm39)	M248K	probably damaging	Het
Chtf8	A	G	8: 107,611,883 (GRCm39)	F352S	probably damaging	Het
Cimip4	T	A	15: 78,270,318 (GRCm39)	D150V	possibly damaging	Het
Csf2ra	T	C	19: 61,213,458 (GRCm39)	D384G	possibly damaging	Het
Ctnnbip1	T	C	4: 149,630,937 (GRCm39)	S59P	probably benign	Het
Cyth3	A	G	5: 143,693,027 (GRCm39)	N312D	probably benign	Het
Dtnb	T	C	12: 3,698,391 (GRCm39)		probably null	Het
Duox2	A	G	2: 122,120,033 (GRCm39)	S826P	possibly damaging	Het
Enthd1	C	T	15: 80,393,410 (GRCm39)	A273T	probably benign	Het
Gm3138	T	C	14: 15,632,304 (GRCm39)	V159A	possibly damaging	Het
Hhip	T	C	8: 80,701,638 (GRCm39)	D632G	probably benign	Het
Igfn1	A	T	1: 135,911,956 (GRCm39)	C114S	probably benign	Het
Islr2	T	C	9: 58,105,097 (GRCm39)	D765G	probably damaging	Het
Klf14	TCCCC	TCCC	6: 30,935,476 (GRCm39)		probably null	Het
Mapk12	G	A	15: 89,015,361 (GRCm39)	P362L	probably benign	Het
Msi1	T	G	5: 115,571,929 (GRCm39)	F96V	probably damaging	Het
Mthfd1l	T	C	10: 4,053,261 (GRCm39)	V870A	probably benign	Het
Nfat5	T	C	8: 108,095,823 (GRCm39)	S1355P	possibly damaging	Het
Oplah	T	C	15: 76,181,887 (GRCm39)	N1079D	probably damaging	Het
Or2ah1	G	T	2: 85,654,224 (GRCm39)	R303M	probably benign	Het
Osbpl1a	T	A	18: 12,900,020 (GRCm39)	I645F	probably benign	Het
Pank4	T	C	4: 155,064,624 (GRCm39)	S728P	probably benign	Het
Parp2	TTGCCATAAGTGCTAAATGAAGCC	T	14: 51,047,521 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,208,857 (GRCm39)	I2503T	unknown	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhs1	T	A	19: 56,465,647 (GRCm39)	F204Y	probably damaging	Het
Pramel26	T	C	4: 143,537,341 (GRCm39)	N330S	probably benign	Het
Pramel32	G	A	4: 88,548,339 (GRCm39)	S22F	probably damaging	Het
Prep	T	A	10: 45,002,159 (GRCm39)	I438N	probably benign	Het
Prss58	T	C	6: 40,874,700 (GRCm39)	H47R	probably damaging	Het
Rad51ap2	T	G	12: 11,508,278 (GRCm39)	D733E	possibly damaging	Het
Robo1	A	T	16: 72,539,049 (GRCm39)	I31F	probably damaging	Het
Setd2	A	G	9: 110,377,328 (GRCm39)	Y381C	probably damaging	Het
Slc47a2	A	G	11: 61,233,269 (GRCm39)	V87A	probably benign	Het
Slc5a9	T	C	4: 111,755,892 (GRCm39)	N2S	probably benign	Het
Spata13	A	G	14: 60,991,319 (GRCm39)	D1024G	probably damaging	Het
Stat1	T	G	1: 52,190,408 (GRCm39)	N554K	probably benign	Het
Suclg2	T	C	6: 95,572,635 (GRCm39)	D110G	possibly damaging	Het
Sult1c2	T	A	17: 54,280,917 (GRCm39)		probably null	Het
Taf5l	A	G	8: 124,729,951 (GRCm39)	I246T	probably damaging	Het
Tcof1	A	T	18: 60,976,368 (GRCm39)	D80E	probably damaging	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tshz3	A	G	7: 36,469,181 (GRCm39)	E390G	probably damaging	Het
Ttn	T	C	2: 76,560,610 (GRCm39)	T29264A	possibly damaging	Het
Ubr5	T	C	15: 38,009,019 (GRCm39)	T1065A		Het
Vcp	A	G	4: 42,985,991 (GRCm39)	V341A	probably damaging	Het
Vmn1r176	A	T	7: 23,534,748 (GRCm39)	L135*	probably null	Het
Vmn1r57	T	A	7: 5,223,499 (GRCm39)	I8N	probably damaging	Het
Ythdc2	C	T	18: 44,967,630 (GRCm39)	P209S	probably damaging	Het
Zfp213	A	T	17: 23,777,178 (GRCm39)	V288D	probably benign	Het
Zfp362	T	C	4: 128,668,319 (GRCm39)	I418V	probably damaging	Het
Zfp707	C	A	15: 75,846,595 (GRCm39)	T215K		Het
Zfp957	G	C	14: 79,450,402 (GRCm39)	R466G	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
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'- TCACTCCTCATACTGCAAGC -3'
(R):5'- ACCTGGGAGCTCATCTATGC -3'

Sequencing Primer
(F):5'- GCAACTCATGAGTTCAGG -3'
(R):5'- GCGTCTCCAGCTGTAAAATG -3'

Posted On

2019-05-15