Mutagenetix > Incidental Mutation

Incidental Mutation 'N/A - 535:Rnf5'

209

Institutional Source

Beutler Lab

Gene Symbol

Rnf5

Ensembl Gene

ENSMUSG00000015478

Gene Name

ring finger protein 5

Synonyms

2410131O05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

N/A - 535 of strain bumble

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34820073-34822535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34822330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 40 (S40G)

Ref Sequence

ENSEMBL: ENSMUSP00000015622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000015622] [ENSMUST00000037489] [ENSMUST00000173242] [ENSMUST00000174069] [ENSMUST00000174228] [ENSMUST00000174496] [ENSMUST00000174041] [ENSMUST00000173973] [ENSMUST00000173992]

AlphaFold

O35445

Predicted Effect

probably benign
Transcript: ENSMUST00000015596

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	4.3e-24	PFAM
IGc2	248	306	7.63e-18	SMART
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015622
AA Change: S40G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478
AA Change: S40G

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
RING	27	67	1.5e-8	SMART
transmembrane domain	118	140	N/A	INTRINSIC
transmembrane domain	160	179	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037489

SMART Domains

Protein: ENSMUSP00000048573
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	210	4.64e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172932

SMART Domains

Protein: ENSMUSP00000133660
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173242

SMART Domains

Protein: ENSMUSP00000134242
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
Pfam:Acyltransferase	80	149	1.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173589

SMART Domains

Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173551

Predicted Effect

probably benign
Transcript: ENSMUST00000174069

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	2.5e-24	PFAM
IGc2	248	306	7.63e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174228

SMART Domains

Protein: ENSMUSP00000133876
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174496

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	3.4e-24	PFAM
IGc2	248	306	7.63e-18	SMART
transmembrane domain	330	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174041

SMART Domains

Protein: ENSMUSP00000133441
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	198	6.63e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173973

SMART Domains

Protein: ENSMUSP00000133947
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173992

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	108	3.23e-7	SMART
Pfam:C2-set_2	114	208	3.3e-24	PFAM
IGc2	239	297	7.63e-18	SMART
transmembrane domain	321	343	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Meta Mutation Damage Score

0.3413

Coding Region Coverage

1x: 83.1%
3x: 57.4%

Validation Efficiency

88% (80/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]
PHENOTYPE: When subjected to muscle damage by cardiotoxin treatment, mice homozygous for a targeted null mutation display attenuated muscle regeneration associated with a delayed ER stress response. [provided by MGI curators]

Allele List at MGI

All alleles(14) : Targeted, knock-out(2) Gene trapped(12)

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	A	T	1: 154,341,510 (GRCm39)	L1166Q	probably damaging	Het
Cd44	T	C	2: 102,644,534 (GRCm39)	M481V	possibly damaging	Het
Eif4g3	T	A	4: 137,847,739 (GRCm39)	V220D	probably damaging	Het
Gm12778	T	A	7: 33,875,347 (GRCm39)		noncoding transcript	Homo
Klhl29	C	T	12: 5,134,019 (GRCm39)	A773T	probably damaging	Homo
Lifr	A	T	15: 7,216,434 (GRCm39)	H803L	possibly damaging	Het
Macf1	T	C	4: 123,367,601 (GRCm39)	T822A	possibly damaging	Het
Obscn	A	T	11: 58,891,134 (GRCm39)	C1653S	possibly damaging	Het
Ogdh	T	C	11: 6,274,911 (GRCm39)	L180P	possibly damaging	Het
Sbf2	T	C	7: 109,911,959 (GRCm39)	T1696A	probably benign	Het
Ska2	C	T	11: 87,008,680 (GRCm39)		probably benign	Het

Other mutations in Rnf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Rnf5	APN	17	34,821,083 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Rnf5	UTSW	17	34,822,341 (GRCm39)	missense	probably damaging	0.98
R3034:Rnf5	UTSW	17	34,822,332 (GRCm39)	missense	possibly damaging	0.92
R3785:Rnf5	UTSW	17	34,820,906 (GRCm39)	critical splice donor site	probably null
R4842:Rnf5	UTSW	17	34,820,977 (GRCm39)	unclassified	probably benign
R5309:Rnf5	UTSW	17	34,820,562 (GRCm39)	missense	probably benign	0.23
R5312:Rnf5	UTSW	17	34,820,562 (GRCm39)	missense	probably benign	0.23
R5610:Rnf5	UTSW	17	34,820,712 (GRCm39)	unclassified	probably benign
R6432:Rnf5	UTSW	17	34,821,101 (GRCm39)	missense	possibly damaging	0.85
R6454:Rnf5	UTSW	17	34,821,283 (GRCm39)	missense	probably damaging	0.99
R7604:Rnf5	UTSW	17	34,820,638 (GRCm39)	missense	probably benign
R9233:Rnf5	UTSW	17	34,822,326 (GRCm39)	missense	possibly damaging	0.59
R9620:Rnf5	UTSW	17	34,820,721 (GRCm39)	missense	possibly damaging	0.83
X0028:Rnf5	UTSW	17	34,820,928 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 206 of the Rnf5 transcript in exon 1 of 6 total exons. The mutated nucleotide causes a serine to glycine substitution at amino acid 40 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Rnf5 gene encodes a 180 amino acid multi-pass membrane protein that has E3 ubiquitin-protein ligase activity and contains a RING-type zinc finger at residues 27-68 (Uniprot O35445).

The S40G change occurs in the RING-type zinc finger, and is predicted to be possibly damaging by the PolyPhen program.

Posted On

2010-05-04