Mutagenetix > Incidental Mutation

Incidental Mutation 'R3034:Rnf5'

264804

Institutional Source

Beutler Lab

Gene Symbol

Rnf5

Ensembl Gene

ENSMUSG00000015478

Gene Name

ring finger protein 5

Synonyms

2410131O05Rik

MMRRC Submission

040550-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R3034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34820073-34822535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34822332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 39 (V39A)

Ref Sequence

ENSEMBL: ENSMUSP00000015622 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000015622
AA Change: V39A

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

SMART Domains

Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478
AA Change: V39A

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: ENSMUST00000174045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173551

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: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174756

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000184846

Meta Mutation Damage Score

0.4219

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (44/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	T	C	11: 70,207,079 (GRCm39)	I576V	probably benign	Het
Apol7a	T	G	15: 77,273,923 (GRCm39)	I180L	probably benign	Het
Aptx	T	C	4: 40,694,994 (GRCm39)	N114S	probably benign	Het
Bltp3a	T	A	17: 28,113,720 (GRCm39)	D1297E	probably damaging	Het
Cd40	T	A	2: 164,904,235 (GRCm39)	S65R	probably benign	Het
Cdh23	C	T	10: 60,244,789 (GRCm39)		probably benign	Het
Coro7	G	A	16: 4,450,155 (GRCm39)	R565W	probably damaging	Het
Cpt1a	C	T	19: 3,428,390 (GRCm39)	T588M	probably damaging	Het
Defb23	A	G	2: 152,301,189 (GRCm39)	S128P	possibly damaging	Het
Dgki	G	A	6: 37,064,605 (GRCm39)	H250Y	probably damaging	Het
Fgr	T	C	4: 132,725,807 (GRCm39)		probably null	Het
Fkbp15	T	C	4: 62,225,129 (GRCm39)		probably null	Het
Gpr137c	C	T	14: 45,457,733 (GRCm39)	S95L	probably damaging	Het
Kirrel1	T	C	3: 86,990,746 (GRCm39)	D692G	possibly damaging	Het
Krt1	C	A	15: 101,759,068 (GRCm39)	R32L	unknown	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Mbl1	C	A	14: 40,880,790 (GRCm39)	S226Y	probably damaging	Het
Mrps28	T	A	3: 8,988,675 (GRCm39)	D61V	probably benign	Het
Mthfd1	A	G	12: 76,336,244 (GRCm39)	K299E	probably benign	Het
Myo1b	A	G	1: 51,812,406 (GRCm39)	Y738H	possibly damaging	Het
Myo5c	A	G	9: 75,193,859 (GRCm39)	T1205A	probably benign	Het
Nfatc2	C	T	2: 168,376,940 (GRCm39)	G317S	probably damaging	Het
Nln	C	T	13: 104,173,947 (GRCm39)	V525I	possibly damaging	Het
Nrap	T	C	19: 56,352,437 (GRCm39)	E549G	probably damaging	Het
Nwd2	T	A	5: 63,957,446 (GRCm39)	Y259N	probably damaging	Het
Oas3	T	C	5: 120,909,121 (GRCm39)	D275G	probably damaging	Het
Or14a256	A	T	7: 86,264,970 (GRCm39)	D294E	possibly damaging	Het
Ovch2	A	G	7: 107,384,699 (GRCm39)	S473P	probably damaging	Het
Pde8b	T	A	13: 95,359,275 (GRCm39)	Y16F	probably damaging	Het
Pmfbp1	A	T	8: 110,247,553 (GRCm39)		probably null	Het
Pmvk	T	C	3: 89,375,824 (GRCm39)	V74A	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rbm26	T	A	14: 105,390,881 (GRCm39)	T202S	unknown	Het
Rheb	C	T	5: 25,008,721 (GRCm39)	E166K	probably damaging	Het
Scn7a	T	C	2: 66,513,152 (GRCm39)	Y1168C	probably damaging	Het
Tas2r114	A	G	6: 131,666,611 (GRCm39)	I139T	probably benign	Het
Tma7	T	C	9: 108,911,274 (GRCm39)		probably benign	Het
Tmem181a	T	A	17: 6,330,901 (GRCm39)	S13T	possibly damaging	Het
Tmem62	C	T	2: 120,809,605 (GRCm39)		probably benign	Het
Trim71	T	C	9: 114,341,912 (GRCm39)	D790G	probably damaging	Het
Trp53tg5	T	C	2: 164,313,219 (GRCm39)	K152R	probably benign	Het
Zdbf2	C	A	1: 63,343,364 (GRCm39)	A581E	probably 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
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

Predicted Primers

PCR Primer
(F):5'- ACACAAGTCCTCACTTTAGGC -3'
(R):5'- AGTTTGCCCAACGATCCTGG -3'

Sequencing Primer
(F):5'- AGGCCTCCCCTACGTGTATG -3'
(R):5'- AACGATCCTGGGCCGAAG -3'

Posted On

2015-02-05