Mutagenetix > Incidental Mutation

Incidental Mutation 'R9283:Trim55'

703729

Institutional Source

Beutler Lab

Gene Symbol

Trim55

Ensembl Gene

ENSMUSG00000060913

Gene Name

tripartite motif-containing 55

Synonyms

Murf2, D830041C10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19698638-19746585 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 19699612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029139]

AlphaFold

G3X8Y1

Predicted Effect

probably null
Transcript: ENSMUST00000029139

SMART Domains

Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913

Domain	Start	End	E-Value	Type
RING	26	81	3.69e-8	SMART
BBOX	119	161	3.58e-6	SMART
Blast:BBC	168	294	2e-33	BLAST
PDB:4M3L\|D	215	272	2e-12	PDB
low complexity region	329	355	N/A	INTRINSIC
low complexity region	384	398	N/A	INTRINSIC
low complexity region	474	485	N/A	INTRINSIC
low complexity region	514	526	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased heart and muscle to body weight ratios and cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,258,499 (GRCm39)	V47A	probably benign	Het
Aamdc	A	G	7: 97,199,842 (GRCm39)	V140A	probably benign	Het
Acsm3	T	A	7: 119,373,115 (GRCm39)	M206K	possibly damaging	Het
Adprhl1	T	C	8: 13,273,540 (GRCm39)	T1073A	probably benign	Het
Aoc1	A	G	6: 48,882,261 (GRCm39)	I46V	probably benign	Het
Ap4b1	A	G	3: 103,722,259 (GRCm39)	S246G	probably damaging	Het
Bach1	A	G	16: 87,516,211 (GRCm39)	T251A	probably benign	Het
Cry2	A	G	2: 92,244,249 (GRCm39)	L308P	probably damaging	Het
Daam1	G	T	12: 72,035,696 (GRCm39)	G964C	probably damaging	Het
Ddx10	T	G	9: 53,146,656 (GRCm39)	N189H	probably benign	Het
Dlg4	T	A	11: 69,922,617 (GRCm39)	C241*	probably null	Het
Dpy19l1	G	T	9: 24,332,412 (GRCm39)	Y489*	probably null	Het
E2f4	C	A	8: 106,024,395 (GRCm39)	A8E	probably benign	Het
Gm3486	T	C	14: 41,210,268 (GRCm39)	N71S	possibly damaging	Het
Ighv1-23	A	G	12: 114,728,225 (GRCm39)	W66R	probably damaging	Het
Kcnh5	A	G	12: 75,023,307 (GRCm39)	L587P	probably damaging	Het
Kctd16	T	C	18: 40,392,233 (GRCm39)	Y274H	possibly damaging	Het
Kif16b	T	A	2: 142,554,900 (GRCm39)	M633L	probably benign	Het
Kif23	T	C	9: 61,852,651 (GRCm39)	N21S	probably benign	Het
Lamtor3	C	T	3: 137,633,123 (GRCm39)	R85C	probably benign	Het
Lin9	A	T	1: 180,493,493 (GRCm39)	T240S	probably damaging	Het
Mtus1	C	A	8: 41,536,519 (GRCm39)	G399V	probably benign	Het
Mup8	C	T	4: 60,221,903 (GRCm39)	V77I	probably benign	Het
Myo5b	C	T	18: 74,777,149 (GRCm39)	A403V	probably benign	Het
Naf1	C	A	8: 67,313,503 (GRCm39)	A162E	unknown	Het
Nat10	G	A	2: 103,556,092 (GRCm39)	Q910*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npas2	A	G	1: 39,326,689 (GRCm39)	K58R	probably damaging	Het
Nsd2	A	T	5: 34,001,058 (GRCm39)	I192F	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Ophn1	G	A	X: 97,622,145 (GRCm39)	T668M	probably benign	Het
Or10a3	C	T	7: 108,480,289 (GRCm39)	A175T	probably benign	Het
Or2d4	G	A	7: 106,543,806 (GRCm39)	T134I	probably benign	Het
Or5b105	C	A	19: 13,079,821 (GRCm39)	M282I	probably damaging	Het
Or5b12b	T	A	19: 12,861,961 (GRCm39)	C239S	probably damaging	Het
Or7e177	A	G	9: 20,212,419 (GRCm39)	K309E	possibly damaging	Het
Pcdh17	C	T	14: 84,685,593 (GRCm39)	P687S	possibly damaging	Het
Pdpr	C	T	8: 111,856,268 (GRCm39)	R664W	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pfas	A	T	11: 68,884,708 (GRCm39)	V498E	probably damaging	Het
Pfpl	A	T	19: 12,406,220 (GRCm39)	Y157F	probably damaging	Het
Piezo2	A	T	18: 63,157,637 (GRCm39)	F2358I	probably damaging	Het
Pip5k1b	T	C	19: 24,337,376 (GRCm39)	Y304C	probably damaging	Het
Pls1	G	A	9: 95,655,642 (GRCm39)	A370V	probably benign	Het
Polm	A	T	11: 5,779,050 (GRCm39)	L490H	probably damaging	Het
Prdm5	T	C	6: 65,858,060 (GRCm39)	C375R	probably damaging	Het
Scmh1	A	T	4: 120,319,337 (GRCm39)	M21L	probably benign	Het
Sec16a	C	A	2: 26,313,904 (GRCm39)	R449S		Het
Sin3a	C	T	9: 57,002,717 (GRCm39)	T203I	probably damaging	Het
Six5	A	G	7: 18,829,148 (GRCm39)	E196G	probably damaging	Het
Skint8	T	C	4: 111,785,644 (GRCm39)	V30A	probably damaging	Het
Slc2a12	G	A	10: 22,540,511 (GRCm39)	G122E	probably damaging	Het
Smim14	A	G	5: 65,625,780 (GRCm39)	C11R	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tanc1	T	C	2: 59,630,174 (GRCm39)	I718T	probably damaging	Het
Tead4	A	G	6: 128,205,592 (GRCm39)	L370P	probably damaging	Het
Tnrc6c	A	G	11: 117,591,630 (GRCm39)	K15E	unknown	Het
Trpm1	A	T	7: 63,873,623 (GRCm39)	N510I	probably benign	Het
Trps1	A	G	15: 50,694,447 (GRCm39)	V616A	probably damaging	Het
Usp42	A	T	5: 143,705,264 (GRCm39)	V405E	probably damaging	Het
Zfp11	A	T	5: 129,734,748 (GRCm39)	S238T	probably damaging	Het
Zfp608	T	C	18: 55,030,913 (GRCm39)	H1009R	possibly damaging	Het

Other mutations in Trim55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02948:Trim55	APN	3	19,725,116 (GRCm39)	missense	probably damaging	1.00
IGL03095:Trim55	APN	3	19,728,629 (GRCm39)	missense	probably benign	0.00
IGL03411:Trim55	APN	3	19,713,354 (GRCm39)	missense	probably damaging	0.99
R0011:Trim55	UTSW	3	19,725,163 (GRCm39)	missense	probably benign	0.00
R0021:Trim55	UTSW	3	19,698,866 (GRCm39)	missense	probably benign	0.04
R0021:Trim55	UTSW	3	19,698,866 (GRCm39)	missense	probably benign	0.04
R0194:Trim55	UTSW	3	19,716,025 (GRCm39)	missense	probably benign	0.00
R0437:Trim55	UTSW	3	19,725,142 (GRCm39)	missense	probably benign
R0450:Trim55	UTSW	3	19,725,256 (GRCm39)	missense	possibly damaging	0.55
R0469:Trim55	UTSW	3	19,725,256 (GRCm39)	missense	possibly damaging	0.55
R1029:Trim55	UTSW	3	19,698,906 (GRCm39)	missense	probably damaging	1.00
R1397:Trim55	UTSW	3	19,698,801 (GRCm39)	missense	probably benign	0.01
R1928:Trim55	UTSW	3	19,716,046 (GRCm39)	critical splice donor site	probably null
R2079:Trim55	UTSW	3	19,698,830 (GRCm39)	missense	probably damaging	0.98
R3856:Trim55	UTSW	3	19,727,120 (GRCm39)	missense	probably benign
R4646:Trim55	UTSW	3	19,725,286 (GRCm39)	missense	probably benign	0.03
R4907:Trim55	UTSW	3	19,728,538 (GRCm39)	missense	probably benign
R5090:Trim55	UTSW	3	19,725,771 (GRCm39)	missense	probably benign	0.08
R5562:Trim55	UTSW	3	19,713,317 (GRCm39)	missense	probably benign	0.04
R6370:Trim55	UTSW	3	19,745,650 (GRCm39)	missense	possibly damaging	0.87
R6658:Trim55	UTSW	3	19,745,719 (GRCm39)	missense	probably damaging	1.00
R6786:Trim55	UTSW	3	19,726,938 (GRCm39)	missense	probably benign
R8147:Trim55	UTSW	3	19,727,011 (GRCm39)	missense	probably benign	0.28
R8524:Trim55	UTSW	3	19,725,113 (GRCm39)	missense	probably benign	0.00
R8824:Trim55	UTSW	3	19,727,126 (GRCm39)	missense	probably benign
R8974:Trim55	UTSW	3	19,699,603 (GRCm39)	missense	probably damaging	0.96
R8977:Trim55	UTSW	3	19,713,341 (GRCm39)	missense	probably benign	0.17
R9302:Trim55	UTSW	3	19,727,153 (GRCm39)	missense	probably benign	0.04
R9380:Trim55	UTSW	3	19,728,559 (GRCm39)	missense	probably benign	0.00
R9657:Trim55	UTSW	3	19,728,671 (GRCm39)	missense	possibly damaging	0.46
R9732:Trim55	UTSW	3	19,716,039 (GRCm39)	missense	probably damaging	0.97
R9758:Trim55	UTSW	3	19,699,498 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTCTAACCCGTACTTAC -3'
(R):5'- TACAAGGCTGTGAGGTGGATC -3'

Sequencing Primer
(F):5'- GTACTTACCCACAAGAGGAGGC -3'
(R):5'- AACATGACTCTCTTTGATGGCAC -3'

Posted On

2022-03-25