Mutagenetix > Incidental Mutation

Incidental Mutation 'R3785:Rnf5'

272236

Institutional Source

Beutler Lab

Gene Symbol

Rnf5

Ensembl Gene

ENSMUSG00000015478

Gene Name

ring finger protein 5

Synonyms

2410131O05Rik

MMRRC Submission

040752-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R3785 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34820073-34822535 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 34820906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000015622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000015622] [ENSMUST00000015622] [ENSMUST00000037489] [ENSMUST00000038149] [ENSMUST00000174228] [ENSMUST00000173992] [ENSMUST00000174069] [ENSMUST00000173973] [ENSMUST00000173242] [ENSMUST00000174041] [ENSMUST00000174496]

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

probably null
Transcript: ENSMUST00000015622

SMART Domains

Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478

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 null
Transcript: ENSMUST00000015622

SMART Domains

Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478

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

probably benign
Transcript: ENSMUST00000038149

SMART Domains

Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
low complexity region	7	49	N/A	INTRINSIC
Pfam:PBC	50	243	1.3e-97	PFAM
HOX	244	309	1.9e-18	SMART
low complexity region	327	353	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000174045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174554

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

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: 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

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: 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: 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

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: 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

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

95% (38/40)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
A2ml1	C	T	6: 128,521,887 (GRCm39)		probably null	Het
Aak1	T	C	6: 86,942,560 (GRCm39)	F701S	unknown	Het
Arid2	T	A	15: 96,270,439 (GRCm39)	D1517E	possibly damaging	Het
Cyp2r1	C	T	7: 114,153,931 (GRCm39)	V88I	possibly damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dnah11	G	T	12: 117,981,337 (GRCm39)	Q2610K	probably damaging	Het
Gm5698	T	C	1: 31,016,560 (GRCm39)	T164A	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Gpx6	A	G	13: 21,497,956 (GRCm39)	T76A	probably benign	Het
Htra3	A	T	5: 35,828,472 (GRCm39)	L136H	probably benign	Het
Ifitm10	G	A	7: 141,882,335 (GRCm39)	T145I	possibly damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Kcnd3	C	A	3: 105,575,541 (GRCm39)	T555K	possibly damaging	Het
Kif13b	C	T	14: 65,037,849 (GRCm39)	T1505I	probably benign	Het
Mcf2l	G	T	8: 12,930,099 (GRCm39)	G40C	probably damaging	Het
Mettl3	A	T	14: 52,537,363 (GRCm39)	I102N	probably benign	Het
Muc5b	C	T	7: 141,418,853 (GRCm39)	T3933I	possibly damaging	Het
Mus81	G	A	19: 5,535,389 (GRCm39)		probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Mypn	C	A	10: 63,028,961 (GRCm39)	R34L	probably benign	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Or4f56	T	C	2: 111,703,831 (GRCm39)	Y123C	probably damaging	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Or9g3	G	A	2: 85,589,797 (GRCm39)	P308S	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Sacs	C	A	14: 61,421,410 (GRCm39)	Q116K	probably damaging	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Senp6	T	G	9: 79,999,568 (GRCm39)	I74S	probably benign	Het
Slc13a4	T	A	6: 35,264,827 (GRCm39)	T131S	probably damaging	Het
Slc9a4	C	A	1: 40,623,130 (GRCm39)	P123Q	probably damaging	Het
Stxbp4	T	A	11: 90,426,441 (GRCm39)		probably null	Het
Swt1	T	C	1: 151,255,155 (GRCm39)	D814G	probably benign	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Ttbk2	A	T	2: 120,604,296 (GRCm39)		probably benign	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het
Zfp26	A	T	9: 20,349,098 (GRCm39)	C489S	probably damaging	Het
Zfp804b	G	A	5: 6,820,153 (GRCm39)	T934M	possibly damaging	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
N/A - 535:Rnf5	UTSW	17	34,822,330 (GRCm39)	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- TACCTGCGCCTCTTCTGAAAG -3'
(R):5'- GAGAAGGTCGTCCCTCTTTATGG -3'

Sequencing Primer
(F):5'- GGTTCATGGGCATTGAACAC -3'
(R):5'- CGTCCCTCTTTATGGGCGAG -3'

Posted On

2015-03-25