Mutagenetix > Incidental Mutation

Incidental Mutation 'R4907:Trim55'

379090

Institutional Source

Beutler Lab

Gene Symbol

Trim55

Ensembl Gene

ENSMUSG00000060913

Gene Name

tripartite motif-containing 55

Synonyms

Murf2, D830041C10Rik

MMRRC Submission

042509-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19698638-19746585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19728538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 450 (T450A)

Ref Sequence

ENSEMBL: ENSMUSP00000029139 (fasta)

Gene Model

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

AlphaFold

G3X8Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000029139
AA Change: T450A

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

SMART Domains

Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: T450A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

98% (89/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	G	T	1: 57,422,350 (GRCm39)	G242V	probably damaging	Het
4933412E24Rik	T	C	15: 59,887,957 (GRCm39)	E161G	probably benign	Het
Abcc5	A	G	16: 20,195,296 (GRCm39)	S734P	possibly damaging	Het
Actn1	T	G	12: 80,228,188 (GRCm39)	H394P	probably damaging	Het
Adam8	A	T	7: 139,569,286 (GRCm39)	D144E	probably benign	Het
Ankrd50	A	T	3: 38,510,824 (GRCm39)	N514K	probably damaging	Het
Ankrd50	T	A	3: 38,509,122 (GRCm39)	K1082*	probably null	Het
Atp4a	A	G	7: 30,418,517 (GRCm39)	I602V	possibly damaging	Het
Baz2a	A	G	10: 127,946,677 (GRCm39)	T64A	probably damaging	Het
Btbd19	A	G	4: 116,977,764 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,028,998 (GRCm39)	S1148T	probably damaging	Het
Ccdc18	T	A	5: 108,284,007 (GRCm39)	D103E	probably benign	Het
Cd209d	T	C	8: 3,927,948 (GRCm39)	N52S	probably benign	Het
Cdh20	T	A	1: 110,066,053 (GRCm39)	Y776N	probably damaging	Het
Cdk14	A	G	5: 5,299,140 (GRCm39)	V101A	probably damaging	Het
Cldn22	T	C	8: 48,277,742 (GRCm39)	V60A	probably benign	Het
Clec10a	G	A	11: 70,060,797 (GRCm39)	G183D	probably benign	Het
Cnga3	T	C	1: 37,281,023 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,714,634 (GRCm39)	F224I	probably benign	Het
Dync2i2	A	G	2: 29,922,472 (GRCm39)		probably null	Het
Fbxo40	A	G	16: 36,790,064 (GRCm39)	Y349H	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gm10029	A	T	13: 6,712,592 (GRCm39)		noncoding transcript	Het
Gm14399	T	A	2: 174,973,182 (GRCm39)		probably benign	Het
Gm9932	T	C	5: 100,347,014 (GRCm39)		noncoding transcript	Het
Immp1l	A	G	2: 105,767,462 (GRCm39)	Y107C	probably damaging	Het
Ism1	G	T	2: 139,520,672 (GRCm39)	G28V	probably benign	Het
Klf1	C	A	8: 85,629,814 (GRCm39)	S213*	probably null	Het
Krt12	T	C	11: 99,309,188 (GRCm39)	E329G	probably damaging	Het
Lama2	A	T	10: 27,040,942 (GRCm39)	N1460K	probably benign	Het
Llgl2	T	A	11: 115,744,800 (GRCm39)	Y932*	probably null	Het
Lrrc7	T	C	3: 157,866,877 (GRCm39)	I955V	probably damaging	Het
Ltbp1	A	G	17: 75,312,899 (GRCm39)	R7G	probably benign	Het
Mcm3ap	A	G	10: 76,329,275 (GRCm39)	E1152G	probably damaging	Het
Mgam2-ps	T	C	6: 40,811,677 (GRCm39)		noncoding transcript	Het
Mical3	T	A	6: 120,984,259 (GRCm39)	M206L	probably benign	Het
Mndal	T	G	1: 173,690,256 (GRCm39)	N358T	probably damaging	Het
Nckap5	A	G	1: 125,953,889 (GRCm39)	S824P	possibly damaging	Het
Ndufb2	T	C	6: 39,573,554 (GRCm39)		probably benign	Het
Nfatc3	C	A	8: 106,806,359 (GRCm39)	H401Q	probably damaging	Het
Npas2	T	C	1: 39,401,066 (GRCm39)	V810A	unknown	Het
Nt5c2	A	G	19: 46,884,978 (GRCm39)	V245A	possibly damaging	Het
Or1j4	A	T	2: 36,740,270 (GRCm39)	I71F	probably benign	Het
Or4d5	A	T	9: 40,011,955 (GRCm39)	M277K	probably benign	Het
Or51ah3	A	G	7: 103,210,241 (GRCm39)	M186V	possibly damaging	Het
Or52h9	A	G	7: 104,202,518 (GRCm39)	R131G	probably damaging	Het
Or5b109	A	G	19: 13,212,157 (GRCm39)	D181G	probably damaging	Het
Otof	A	T	5: 30,536,005 (GRCm39)		probably null	Het
Pck1	C	T	2: 172,998,816 (GRCm39)	T358I	probably damaging	Het
Pclo	T	C	5: 14,730,065 (GRCm39)		probably benign	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pgr	G	A	9: 8,947,044 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,367,475 (GRCm39)	V1224E	probably damaging	Het
Pkd2l1	A	G	19: 44,142,581 (GRCm39)	V487A	possibly damaging	Het
Pkhd1	T	C	1: 20,279,450 (GRCm39)	D2956G	probably damaging	Het
Rexo2	A	T	9: 48,390,703 (GRCm39)		probably null	Het
Rgs22	T	A	15: 36,087,570 (GRCm39)	L573F	possibly damaging	Het
Rufy3	T	G	5: 88,732,051 (GRCm39)	I18S	possibly damaging	Het
Slc30a9	T	C	5: 67,503,505 (GRCm39)	L393P	probably damaging	Het
Snw1	T	C	12: 87,506,259 (GRCm39)	I214V	probably benign	Het
Sorbs1	G	A	19: 40,328,491 (GRCm39)	Q595*	probably null	Het
Spata21	T	A	4: 140,824,432 (GRCm39)		probably null	Het
Ss18l1	G	T	2: 179,705,192 (GRCm39)		probably null	Het
Tmem163	A	T	1: 127,447,107 (GRCm39)	L176H	probably damaging	Het
Tpd52	T	C	3: 9,009,668 (GRCm39)		probably null	Het
Tpsab1	T	A	17: 25,562,436 (GRCm39)	Y297F	possibly damaging	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Txndc11	A	T	16: 10,906,398 (GRCm39)	H377Q	probably benign	Het
Usp17la	A	G	7: 104,510,355 (GRCm39)	Y320C	probably damaging	Het
Vmn2r109	T	C	17: 20,770,348 (GRCm39)	N547D	probably damaging	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Wdr33	T	C	18: 32,040,046 (GRCm39)	*1331Q	probably null	Het
Wdr90	T	A	17: 26,079,624 (GRCm39)		probably benign	Het
Xpo7	T	C	14: 70,908,069 (GRCm39)	M903V	probably benign	Het
Zfhx3	T	A	8: 109,519,986 (GRCm39)	S369R	probably damaging	Het
Zfp808	T	C	13: 62,319,287 (GRCm39)	F172S	possibly damaging	Het
Zfp821	A	G	8: 110,450,625 (GRCm39)	E55G	probably benign	Het
Zfp964	T	C	8: 70,115,972 (GRCm39)	Y191H	possibly damaging	Het
Zfyve1	T	C	12: 83,621,646 (GRCm39)	T250A	probably 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
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
R9283:Trim55	UTSW	3	19,699,612 (GRCm39)	critical splice donor site	probably null
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'- GAGCTCAGGGTGTTCAAACC -3'
(R):5'- GCGTCAACACTAACCTGAGAG -3'

Sequencing Primer
(F):5'- GGGAAATGACACCAACTGCTCTTTC -3'
(R):5'- GGTAGCTGCAGTTGAACTAGACTCC -3'

Posted On

2016-04-15