Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Rnf5'

724748

Institutional Source

Beutler Lab

Gene Symbol

Rnf5

Ensembl Gene

ENSMUSG00000015478

Gene Name

ring finger protein 5

Synonyms

2410131O05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34820073-34822535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34820721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 147 (G147S)

Ref Sequence

ENSEMBL: ENSMUSP00000015622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000015622] [ENSMUST00000037489] [ENSMUST00000038149] [ENSMUST00000173242] [ENSMUST00000173973] [ENSMUST00000173992] [ENSMUST00000174041] [ENSMUST00000174069] [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: G147S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478
AA Change: G147S

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

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: 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

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	G	T	18: 10,704,605 (GRCm39)	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amer3	C	T	1: 34,628,043 (GRCm39)	P761S	probably benign	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Cyp2a5	T	A	7: 26,536,636 (GRCm39)	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Exoc6b	T	A	6: 84,988,302 (GRCm39)	K92*	probably null	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Slco2a1	G	C	9: 102,962,065 (GRCm39)	C579S	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	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
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
X0028:Rnf5	UTSW	17	34,820,928 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACAGGACTCCCAATACTG -3'
(R):5'- AGACCCAACACGATGCTGAG -3'

Sequencing Primer
(F):5'- AGGACTCCCAATACTGATTCTCC -3'
(R):5'- GGTGAGTCTCCTTGTCCAGC -3'

Posted On

2022-09-12