Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02489:Rnf182'

295548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf182

Ensembl Gene

ENSMUSG00000044164

Gene Name

ring finger protein 182

Synonyms

C630023L15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02489

Quality Score

Status

Chromosome

Chromosomal Location

43769186-43824421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43821779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 110 (L110P)

Ref Sequence

ENSEMBL: ENSMUSP00000062005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059986] [ENSMUST00000161817]

AlphaFold

Q8C432

Predicted Effect

probably damaging
Transcript: ENSMUST00000059986
AA Change: L110P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062005
Gene: ENSMUSG00000044164
AA Change: L110P

Domain	Start	End	E-Value	Type
RING	20	67	2.17e-5	SMART
low complexity region	101	112	N/A	INTRINSIC
transmembrane domain	184	206	N/A	INTRINSIC
transmembrane domain	211	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161817

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,847 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,480,746 (GRCm39)	T430A	possibly damaging	Het
Ankrd6	T	C	4: 32,810,298 (GRCm39)	D426G	probably damaging	Het
Arhgef37	A	G	18: 61,639,540 (GRCm39)	S280P	possibly damaging	Het
Bicd1	T	C	6: 149,414,535 (GRCm39)	L416P	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cenpp	T	C	13: 49,803,594 (GRCm39)		probably null	Het
Col5a2	T	C	1: 45,431,971 (GRCm39)		probably null	Het
Ctsa	A	G	2: 164,680,565 (GRCm39)	Y402C	probably damaging	Het
Dnah7a	A	G	1: 53,686,481 (GRCm39)	V223A	possibly damaging	Het
Dnajb3	G	T	1: 88,133,032 (GRCm39)	N123K	probably benign	Het
Fhad1	G	T	4: 141,684,931 (GRCm39)	N469K	probably damaging	Het
Fmo3	G	T	1: 162,781,856 (GRCm39)	T499K	possibly damaging	Het
Gm10100	G	A	10: 77,562,645 (GRCm39)	C109Y	probably benign	Het
Lrrc27	G	T	7: 138,805,977 (GRCm39)	R214L	probably benign	Het
Mc5r	T	A	18: 68,472,597 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	C	5: 63,962,570 (GRCm39)	Y718S	probably damaging	Het
Or8h7	T	G	2: 86,721,339 (GRCm39)	Y60S	probably damaging	Het
Ppa1	T	A	10: 61,501,223 (GRCm39)	D163E	probably damaging	Het
Ptprk	G	T	10: 28,259,468 (GRCm39)	G303W	probably damaging	Het
Slc12a2	T	C	18: 58,045,074 (GRCm39)	F659S	probably damaging	Het
Slc5a3	T	A	16: 91,874,593 (GRCm39)	Y217N	possibly damaging	Het
Ttc41	G	T	10: 86,596,778 (GRCm39)	E1008*	probably null	Het
Unc80	T	C	1: 66,564,860 (GRCm39)	M849T	probably benign	Het
Vmn2r76	A	T	7: 85,878,071 (GRCm39)	I442N	probably benign	Het

Other mutations in Rnf182

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01822:Rnf182	APN	13	43,821,508 (GRCm39)	missense	probably damaging	1.00
IGL02131:Rnf182	APN	13	43,821,818 (GRCm39)	missense	probably benign	0.05
PIT4449001:Rnf182	UTSW	13	43,822,153 (GRCm39)	missense	probably benign	0.00
R0507:Rnf182	UTSW	13	43,821,823 (GRCm39)	missense	probably benign	0.02
R1826:Rnf182	UTSW	13	43,822,010 (GRCm39)	nonsense	probably null
R1827:Rnf182	UTSW	13	43,822,010 (GRCm39)	nonsense	probably null
R1828:Rnf182	UTSW	13	43,822,010 (GRCm39)	nonsense	probably null
R1856:Rnf182	UTSW	13	43,821,518 (GRCm39)	missense	probably damaging	1.00
R1909:Rnf182	UTSW	13	43,821,899 (GRCm39)	missense	probably benign	0.03
R2151:Rnf182	UTSW	13	43,821,899 (GRCm39)	missense	probably benign	0.03
R5874:Rnf182	UTSW	13	43,821,563 (GRCm39)	missense	probably benign
R6005:Rnf182	UTSW	13	43,821,511 (GRCm39)	missense	probably damaging	0.99
R6505:Rnf182	UTSW	13	43,822,147 (GRCm39)	nonsense	probably null

Posted On

2015-04-16