Mutagenetix > Incidental Mutation

Incidental Mutation 'R5131:Rnf181'

394999

Institutional Source

Beutler Lab

Gene Symbol

Rnf181

Ensembl Gene

ENSMUSG00000055850

Gene Name

ring finger protein 181

Synonyms

6230415N01Rik, 2500002L14Rik, 1700047F16Rik

MMRRC Submission

042719-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5131 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

72336697-72343939 bp(-) (GRCm39)

Type of Mutation

splice site (47 bp from exon)

DNA Base Change (assembly)

G to A at 72337811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069580] [ENSMUST00000069595] [ENSMUST00000069695] [ENSMUST00000114095] [ENSMUST00000114095] [ENSMUST00000130064] [ENSMUST00000130064] [ENSMUST00000149296] [ENSMUST00000151063] [ENSMUST00000154098] [ENSMUST00000206064] [ENSMUST00000206531] [ENSMUST00000132243]

AlphaFold

Q9CY62

Predicted Effect

probably null
Transcript: ENSMUST00000069580

SMART Domains

Protein: ENSMUSP00000066128
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	88	128	5.51e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000069595

SMART Domains

Protein: ENSMUSP00000070370
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	20	60	5.51e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069695

SMART Domains

Protein: ENSMUSP00000063977
Gene: ENSMUSG00000055912

Domain	Start	End	E-Value	Type
Pfam:Frag1	3	232	3.8e-63	PFAM
low complexity region	251	259	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114095

SMART Domains

Protein: ENSMUSP00000109729
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	88	155	2.82e-4	SMART
low complexity region	185	196	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114095

SMART Domains

Protein: ENSMUSP00000109729
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	88	155	2.82e-4	SMART
low complexity region	185	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125554

Predicted Effect

probably benign
Transcript: ENSMUST00000126065

Predicted Effect

probably benign
Transcript: ENSMUST00000129233

Predicted Effect

probably null
Transcript: ENSMUST00000130064

SMART Domains

Protein: ENSMUSP00000115187
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	32	72	5.51e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000130064

SMART Domains

Protein: ENSMUSP00000115187
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	32	72	5.51e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149296

Predicted Effect

probably benign
Transcript: ENSMUST00000151063

Predicted Effect

probably null
Transcript: ENSMUST00000154098

SMART Domains

Protein: ENSMUSP00000138327
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	41	81	5.51e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205399

Predicted Effect

probably benign
Transcript: ENSMUST00000206064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206319

Predicted Effect

probably benign
Transcript: ENSMUST00000206531

Predicted Effect

probably benign
Transcript: ENSMUST00000132243

SMART Domains

Protein: ENSMUSP00000138445
Gene: ENSMUSG00000055912

Domain	Start	End	E-Value	Type
Pfam:Frag1	3	69	7.2e-12	PFAM
low complexity region	139	154	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	T	4: 40,163,797 (GRCm39)	P17S	probably benign	Het
Arhgap35	A	G	7: 16,245,112 (GRCm39)		probably null	Het
Brd3	A	T	2: 27,343,427 (GRCm39)	N480K	probably benign	Het
Ccnk	T	C	12: 108,168,890 (GRCm39)		probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh1	T	C	8: 107,390,430 (GRCm39)	V590A	possibly damaging	Het
Cert1	A	G	13: 96,751,343 (GRCm39)	D331G	probably damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 24,991,095 (GRCm39)		probably benign	Het
Cmklr2	T	A	1: 63,222,840 (GRCm39)	S132C	probably damaging	Het
Cyp4a12a	T	A	4: 115,185,017 (GRCm39)	D399E	possibly damaging	Het
Dnah11	A	C	12: 117,918,486 (GRCm39)	Y3482D	probably damaging	Het
Gtf3c3	A	T	1: 54,458,657 (GRCm39)		probably null	Het
Gzmk	G	T	13: 113,310,482 (GRCm39)	A73E	probably benign	Het
Hnrnpul1	A	G	7: 25,426,219 (GRCm39)	V444A	probably benign	Het
Lgr4	T	C	2: 109,842,678 (GRCm39)	S864P	probably benign	Het
Lrp2	A	T	2: 69,260,686 (GRCm39)	V4515E	possibly damaging	Het
Map3k19	A	T	1: 127,751,427 (GRCm39)	N641K	possibly damaging	Het
Mesp2	A	G	7: 79,461,475 (GRCm39)	T267A	possibly damaging	Het
Mipep	T	C	14: 61,140,823 (GRCm39)	L682P	probably damaging	Het
Nalcn	G	T	14: 123,753,182 (GRCm39)	T268K	probably damaging	Het
Ncam2	T	C	16: 81,234,550 (GRCm39)	V135A	probably benign	Het
Ndufaf6	G	T	4: 11,060,931 (GRCm39)	T215K	probably damaging	Het
Nr1h4	T	C	10: 89,319,317 (GRCm39)	D183G	probably damaging	Het
Pate9	C	T	9: 36,446,242 (GRCm39)	A57T	possibly damaging	Het
Pax2	G	T	19: 44,749,394 (GRCm39)	V41L	probably damaging	Het
Pde4dip	T	A	3: 97,616,830 (GRCm39)	N1804I	probably damaging	Het
Phtf2	A	T	5: 20,979,050 (GRCm39)	V526E	probably damaging	Het
Ppp1ca	G	A	19: 4,244,895 (GRCm39)	C291Y	probably damaging	Het
Prag1	G	T	8: 36,607,123 (GRCm39)	G955C	probably damaging	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rsbn1l	G	A	5: 21,101,243 (GRCm39)	R766C	possibly damaging	Het
Rusc2	C	T	4: 43,414,948 (GRCm39)	P85S	probably benign	Het
Rxfp1	T	C	3: 79,559,471 (GRCm39)		probably null	Het
Serpinb6a	T	A	13: 34,102,855 (GRCm39)	M202L	probably benign	Het
Snd1	T	C	6: 28,885,049 (GRCm39)	F800S	probably damaging	Het
Tbc1d2b	G	A	9: 90,091,812 (GRCm39)	T830I	probably damaging	Het
Tmem209	A	T	6: 30,497,166 (GRCm39)	N183K	probably benign	Het
Tmtc3	T	C	10: 100,284,841 (GRCm39)	D598G	probably damaging	Het
Ube3b	A	G	5: 114,545,607 (GRCm39)	D622G	probably damaging	Het
Zbtb43	A	T	2: 33,344,778 (GRCm39)	M112K	probably damaging	Het

Other mutations in Rnf181

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2253:Rnf181	UTSW	6	72,338,467 (GRCm39)	missense	possibly damaging	0.68
R4754:Rnf181	UTSW	6	72,337,543 (GRCm39)	unclassified	probably benign
R4852:Rnf181	UTSW	6	72,338,499 (GRCm39)	missense	probably damaging	1.00
R5668:Rnf181	UTSW	6	72,338,505 (GRCm39)	start codon destroyed	probably null	1.00
R9447:Rnf181	UTSW	6	72,337,570 (GRCm39)	missense	probably damaging	1.00
R9526:Rnf181	UTSW	6	72,338,302 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGCGAGCCTAGAAGAAAGAC -3'
(R):5'- AGTTCCCGCCAGTTCCTAAG -3'

Sequencing Primer
(F):5'- ACGCCAGGCTTAGGCAAG -3'
(R):5'- TGGTAATGGACTGGGGTGAAATC -3'

Posted On

2016-06-21