Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03012:Trim54'

407812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim54

Ensembl Gene

ENSMUSG00000062077

Gene Name

tripartite motif-containing 54

Synonyms

Rnf30, 4930486E09Rik, MuRF3, 4930566I02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03012

Quality Score

Status

Chromosome

Chromosomal Location

31274056-31294974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31294489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 339 (D339G)

Ref Sequence

ENSEMBL: ENSMUSP00000144629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013771] [ENSMUST00000043475] [ENSMUST00000154241] [ENSMUST00000200744] [ENSMUST00000200833] [ENSMUST00000200864] [ENSMUST00000202769] [ENSMUST00000201353] [ENSMUST00000202241] [ENSMUST00000201184]

AlphaFold

Q9ERP3

Predicted Effect

probably benign
Transcript: ENSMUST00000013771
AA Change: D339G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000013771
Gene: ENSMUSG00000062077
AA Change: D339G

Domain	Start	End	E-Value	Type
RING	26	81	8.61e-9	SMART
BBOX	121	163	1.23e-4	SMART
Blast:BBC	170	295	1e-27	BLAST
low complexity region	331	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043475

SMART Domains

Protein: ENSMUSP00000035321
Gene: ENSMUSG00000038676

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	56	62	N/A	INTRINSIC
CRF	81	119	4.02e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154241

SMART Domains

Protein: ENSMUSP00000115292
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	108	175	2.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200744

SMART Domains

Protein: ENSMUSP00000143843
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	103	163	5.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200833

SMART Domains

Protein: ENSMUSP00000144324
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200864

SMART Domains

Protein: ENSMUSP00000144331
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	174	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201171

Predicted Effect

probably benign
Transcript: ENSMUST00000202769
AA Change: D339G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144629
Gene: ENSMUSG00000062077
AA Change: D339G

Domain	Start	End	E-Value	Type
RING	26	81	8.61e-9	SMART
BBOX	121	163	1.23e-4	SMART
Blast:BBC	170	295	1e-27	BLAST
low complexity region	331	348	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201750

Predicted Effect

probably benign
Transcript: ENSMUST00000201353

SMART Domains

Protein: ENSMUSP00000144198
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	174	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202241

SMART Domains

Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	176	4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201184

SMART Domains

Protein: ENSMUSP00000144390
Gene: ENSMUSG00000038676

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	56	62	N/A	INTRINSIC
CRF	81	119	4.02e-15	SMART

Coding Region Coverage

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 motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cardiac function but are prone to cardiac rupture after acute myocardial infarction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	C	9: 118,986,014 (GRCm39)	S17A	probably benign	Het
Acp1	T	G	12: 30,945,948 (GRCm39)	N135T	probably benign	Het
Adamts2	A	G	11: 50,667,096 (GRCm39)		probably benign	Het
Arfgef2	C	T	2: 166,710,808 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,085,482 (GRCm39)	I287N	probably damaging	Het
Camta1	T	A	4: 151,537,756 (GRCm39)	K141N	probably damaging	Het
Carmil1	T	C	13: 24,220,355 (GRCm39)	D719G	probably benign	Het
Cntnap5c	T	A	17: 58,666,229 (GRCm39)	H1086Q	probably benign	Het
Dsg3	A	G	18: 20,670,300 (GRCm39)		probably null	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
G6pd2	A	G	5: 61,966,816 (GRCm39)	Y197C	probably damaging	Het
Il13ra1	G	T	X: 35,394,247 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,479,733 (GRCm39)	P111S	probably benign	Het
Kmt2a	T	C	9: 44,722,263 (GRCm39)		probably benign	Het
Lztr1	T	C	16: 17,339,348 (GRCm39)	S57P	possibly damaging	Het
Mtss1	T	G	15: 58,930,249 (GRCm39)	D32A	probably damaging	Het
Mylk	G	A	16: 34,773,151 (GRCm39)	D1250N	probably benign	Het
Ncln	A	G	10: 81,325,799 (GRCm39)	F349L	probably benign	Het
Pgap1	A	G	1: 54,572,572 (GRCm39)		probably benign	Het
Rarres2	T	C	6: 48,547,239 (GRCm39)	D107G	probably benign	Het
Ric3	T	C	7: 108,637,925 (GRCm39)	D276G	probably benign	Het
Trip11	G	A	12: 101,850,195 (GRCm39)	H1005Y	probably damaging	Het
Tulp4	G	T	17: 6,263,654 (GRCm39)		probably benign	Het
Unc93a	C	T	17: 13,328,495 (GRCm39)	E453K	probably benign	Het
Vmn1r181	A	T	7: 23,684,027 (GRCm39)	D164V	probably damaging	Het
Vmn1r78	T	A	7: 11,887,291 (GRCm39)	S301T	probably benign	Het
Vmn1r85	T	C	7: 12,818,692 (GRCm39)	N151D	probably benign	Het
Wnk2	T	C	13: 49,197,865 (GRCm39)	K2008E	probably damaging	Het
Wrap73	A	G	4: 154,229,691 (GRCm39)		probably benign	Het
Zfp408	G	A	2: 91,478,153 (GRCm39)	A41V	probably benign	Het
Zfp472	A	G	17: 33,196,545 (GRCm39)	S207G	probably benign	Het

Other mutations in Trim54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Trim54	APN	5	31,294,302 (GRCm39)	missense	probably benign	0.00
IGL02393:Trim54	APN	5	31,289,324 (GRCm39)	splice site	probably benign
IGL02545:Trim54	APN	5	31,289,509 (GRCm39)	splice site	probably benign
IGL02664:Trim54	APN	5	31,293,391 (GRCm39)	missense	probably damaging	1.00
IGL03160:Trim54	APN	5	31,289,424 (GRCm39)	missense	probably damaging	0.96
R0238:Trim54	UTSW	5	31,291,463 (GRCm39)	missense	probably benign	0.18
R0238:Trim54	UTSW	5	31,291,463 (GRCm39)	missense	probably benign	0.18
R0617:Trim54	UTSW	5	31,293,526 (GRCm39)	splice site	probably null
R3624:Trim54	UTSW	5	31,294,320 (GRCm39)	missense	possibly damaging	0.91
R3753:Trim54	UTSW	5	31,291,488 (GRCm39)	missense	probably damaging	0.99
R6815:Trim54	UTSW	5	31,291,424 (GRCm39)	missense	probably damaging	1.00
R7350:Trim54	UTSW	5	31,294,505 (GRCm39)	missense	probably benign
R7575:Trim54	UTSW	5	31,291,431 (GRCm39)	missense	possibly damaging	0.55
R8358:Trim54	UTSW	5	31,294,338 (GRCm39)	missense	probably benign	0.11
R9345:Trim54	UTSW	5	31,294,478 (GRCm39)	missense	probably benign
X0028:Trim54	UTSW	5	31,274,422 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02