Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01012:Trim54'

53563

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 #

IGL01012

Quality Score

Status

Chromosome

Chromosomal Location

31274056-31294974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31294302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 313 (S313A)

Ref Sequence

ENSEMBL: ENSMUSP00000144629 (fasta)

Gene Model

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

AlphaFold

Q9ERP3

Predicted Effect

probably benign
Transcript: ENSMUST00000013771
AA Change: S313A

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

SMART Domains

Protein: ENSMUSP00000013771
Gene: ENSMUSG00000062077
AA Change: S313A

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: S313A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000144629
Gene: ENSMUSG00000062077
AA Change: S313A

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: 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

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,972,772 (GRCm39)	M249K	possibly damaging	Het
Adamtsl1	T	C	4: 86,260,426 (GRCm39)	F879S	possibly damaging	Het
Afap1l2	T	C	19: 56,918,693 (GRCm39)	E30G	probably damaging	Het
Aqp9	A	G	9: 71,037,831 (GRCm39)		probably benign	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Arhgef10	T	C	8: 15,029,977 (GRCm39)	S921P	probably damaging	Het
Atp6v0e2	T	C	6: 48,514,749 (GRCm39)	I22T	probably damaging	Het
AY074887	C	T	9: 54,857,963 (GRCm39)		probably benign	Het
Bcl2l15	T	A	3: 103,740,730 (GRCm39)	D65E	probably damaging	Het
C2cd6	A	T	1: 59,036,507 (GRCm39)		probably benign	Het
Ccdc138	G	A	10: 58,376,737 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,904,838 (GRCm39)	T159A	possibly damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cd300ld2	T	A	11: 114,903,123 (GRCm39)	I241F	probably benign	Het
Cep192	T	A	18: 67,945,477 (GRCm39)	N192K	possibly damaging	Het
Csmd1	T	C	8: 15,967,341 (GRCm39)	K3174R	probably benign	Het
Dpy30	A	T	17: 74,614,749 (GRCm39)	L65I	probably damaging	Het
Eci2	A	T	13: 35,174,312 (GRCm39)	L83*	probably null	Het
F7	A	T	8: 13,083,409 (GRCm39)	E183V	probably damaging	Het
Gabrg1	T	C	5: 70,935,512 (GRCm39)	K214R	probably benign	Het
Galr2	A	T	11: 116,173,996 (GRCm39)	T209S	probably damaging	Het
Gimap9	T	C	6: 48,654,851 (GRCm39)		probably null	Het
Gip	C	A	11: 95,916,285 (GRCm39)	F28L	probably benign	Het
Gpd2	A	G	2: 57,254,542 (GRCm39)	N662S	probably benign	Het
Grik2	T	G	10: 49,149,052 (GRCm39)	D511A	probably damaging	Het
Ift122	T	A	6: 115,876,452 (GRCm39)	Y563N	probably damaging	Het
Ipo8	A	G	6: 148,690,561 (GRCm39)		probably benign	Het
Islr	T	C	9: 58,064,511 (GRCm39)	E332G	probably damaging	Het
Itgb7	G	A	15: 102,136,020 (GRCm39)	S5L	probably benign	Het
Itpr2	G	A	6: 146,246,659 (GRCm39)	R1087W	probably damaging	Het
Katnal2	C	A	18: 77,105,250 (GRCm39)	V66F	probably damaging	Het
Krt81	T	C	15: 101,358,900 (GRCm39)	D284G	probably benign	Het
Krtap4-8	T	A	11: 99,670,831 (GRCm39)		probably benign	Het
Map1s	C	A	8: 71,366,554 (GRCm39)	N486K	probably benign	Het
Med13l	G	A	5: 118,872,093 (GRCm39)	D842N	probably damaging	Het
Mef2c	T	A	13: 83,803,714 (GRCm39)	M306K	probably damaging	Het
Myb	C	T	10: 21,022,159 (GRCm39)	V377I	probably benign	Het
Myocd	C	T	11: 65,075,451 (GRCm39)	G558R	possibly damaging	Het
Nars1	G	T	18: 64,638,039 (GRCm39)	A305E	probably damaging	Het
Neb	A	T	2: 52,086,373 (GRCm39)	N5233K	probably benign	Het
Nipsnap2	T	C	5: 129,823,503 (GRCm39)	I181T	possibly damaging	Het
Or10d4b	A	T	9: 39,534,661 (GRCm39)	M81L	probably benign	Het
Or1s2	T	C	19: 13,758,937 (GRCm39)		probably benign	Het
P3h2	A	C	16: 25,805,998 (GRCm39)	C282G	probably damaging	Het
Pcgf5	T	A	19: 36,420,268 (GRCm39)	C167S	probably damaging	Het
Pck2	T	C	14: 55,781,526 (GRCm39)		probably benign	Het
Peli2	C	T	14: 48,490,187 (GRCm39)	R169*	probably null	Het
Pramel16	T	A	4: 143,676,784 (GRCm39)		probably benign	Het
Psme3ip1	G	A	8: 95,313,990 (GRCm39)	R104W	probably damaging	Het
Ralgapa2	T	A	2: 146,263,659 (GRCm39)	Q686L	possibly damaging	Het
Scap	C	A	9: 110,191,488 (GRCm39)	P50H	probably damaging	Het
Sh3rf2	T	A	18: 42,187,257 (GRCm39)	D125E	possibly damaging	Het
Slc25a38	T	C	9: 119,945,560 (GRCm39)		probably benign	Het
Slc35a5	A	G	16: 44,964,195 (GRCm39)	V346A	probably damaging	Het
Smad4	T	A	18: 73,808,880 (GRCm39)	N129I	probably damaging	Het
Sod2	C	T	17: 13,232,464 (GRCm39)	A163V	possibly damaging	Het
Spred3	T	A	7: 28,860,948 (GRCm39)		probably benign	Het
Stag1	C	A	9: 100,737,912 (GRCm39)	A423E	possibly damaging	Het
Stk17b	A	T	1: 53,800,196 (GRCm39)	S261T	probably benign	Het
Stx3	T	C	19: 11,769,152 (GRCm39)	K58E	probably damaging	Het
Timm10b	C	A	7: 105,290,345 (GRCm39)	Y79*	probably null	Het
Tmem204	T	C	17: 25,289,329 (GRCm39)	D97G	probably damaging	Het
Tnfrsf25	T	C	4: 152,202,885 (GRCm39)	V181A	probably benign	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Vmn2r23	A	G	6: 123,706,555 (GRCm39)	T462A	probably benign	Het
Wdr27	T	A	17: 15,146,509 (GRCm39)	H162L	probably damaging	Het

Other mutations in Trim54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03012:Trim54	APN	5	31,294,489 (GRCm39)	missense	probably benign
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

2013-06-28