Mutagenetix > Incidental Mutation

Incidental Mutation 'R8977:Trim55'

683481

Institutional Source

Beutler Lab

Gene Symbol

Trim55

Ensembl Gene

ENSMUSG00000060913

Gene Name

tripartite motif-containing 55

Synonyms

Murf2, D830041C10Rik

MMRRC Submission

068715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19698638-19746585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19713341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 131 (R131S)

Ref Sequence

ENSEMBL: ENSMUSP00000029139 (fasta)

Gene Model

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

AlphaFold

G3X8Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000029139
AA Change: R131S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: R131S

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,184,710 (GRCm39)	E476G	unknown	Het
Aars1	G	A	8: 111,766,849 (GRCm39)	R77Q	probably damaging	Het
Abcc10	C	A	17: 46,624,593 (GRCm39)	V795L	probably benign	Het
Adam30	A	G	3: 98,069,378 (GRCm39)	K276E	probably damaging	Het
Adam6b	A	T	12: 113,453,996 (GRCm39)	N271I	probably benign	Het
Adgrl2	T	C	3: 148,660,223 (GRCm39)	I17V	probably null	Het
Anapc1	C	A	2: 128,483,322 (GRCm39)	G1258C	probably damaging	Het
Ank2	G	T	3: 126,738,575 (GRCm39)	H2436Q	unknown	Het
Ankrd13a	A	T	5: 114,933,806 (GRCm39)	K267*	probably null	Het
Apob	T	C	12: 8,065,990 (GRCm39)	Y4320H	probably damaging	Het
Atp2b2	T	C	6: 113,750,325 (GRCm39)	D678G	probably damaging	Het
Bhlhe41	C	A	6: 145,809,096 (GRCm39)	V239F	possibly damaging	Het
Cbfa2t2	T	G	2: 154,342,410 (GRCm39)	L42R	probably benign	Het
Ccer2	G	A	7: 28,456,113 (GRCm39)	V52M	probably damaging	Het
Ccnj	T	C	19: 40,833,383 (GRCm39)	F187S	probably damaging	Het
Cd109	G	A	9: 78,614,810 (GRCm39)	V1286I	probably benign	Het
Cfap210	T	C	2: 69,617,643 (GRCm39)	H46R	possibly damaging	Het
Cfap46	G	T	7: 139,259,849 (GRCm39)	T148N	probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Cuzd1	A	G	7: 130,923,754 (GRCm39)	F8S	probably benign	Het
Dnmbp	A	T	19: 43,840,751 (GRCm39)	D549E	probably damaging	Het
Dpp4	A	G	2: 62,204,747 (GRCm39)	L240P	probably benign	Het
Dst	A	T	1: 34,286,864 (GRCm39)	R3398S	probably damaging	Het
Eml6	A	G	11: 29,734,182 (GRCm39)	I1186T	possibly damaging	Het
Extl1	T	C	4: 134,086,435 (GRCm39)	E540G	possibly damaging	Het
Gdpd5	A	G	7: 99,103,057 (GRCm39)	I339V	probably benign	Het
Ggcx	T	C	6: 72,406,265 (GRCm39)		probably null	Het
Gm9195	A	G	14: 72,691,338 (GRCm39)	F1637L	unknown	Het
Igkv5-48	G	C	6: 69,703,616 (GRCm39)	N96K	possibly damaging	Het
Itga11	T	C	9: 62,662,922 (GRCm39)	I546T	probably damaging	Het
Map3k5	T	A	10: 19,955,000 (GRCm39)	F624L	possibly damaging	Het
Map7	T	A	10: 20,145,336 (GRCm39)		probably null	Het
Mdga2	A	T	12: 66,844,409 (GRCm39)	D196E	possibly damaging	Het
Mettl2	T	C	11: 105,019,791 (GRCm39)	C143R	probably benign	Het
Mmut	G	T	17: 41,249,481 (GRCm39)	R152L	probably benign	Het
Ncam1	G	T	9: 49,418,825 (GRCm39)	T825K	probably damaging	Het
Nucb2	C	A	7: 116,128,063 (GRCm39)	N257K	probably benign	Het
Or1e19	A	G	11: 73,316,651 (GRCm39)	S53P	probably benign	Het
Or1p1c	A	T	11: 74,160,304 (GRCm39)	I30F	probably benign	Het
Or2b7	T	A	13: 21,740,016 (GRCm39)	M59L	possibly damaging	Het
Or51i1	A	T	7: 103,670,762 (GRCm39)	Y254*	probably null	Het
Or52n1	A	T	7: 104,383,248 (GRCm39)	F108I	probably damaging	Het
Or8k38	C	T	2: 86,488,472 (GRCm39)	C110Y	probably benign	Het
Pamr1	T	A	2: 102,441,963 (GRCm39)	V184D	probably damaging	Het
Paqr9	A	T	9: 95,442,888 (GRCm39)	I293F	possibly damaging	Het
Pi15	G	T	1: 17,690,126 (GRCm39)		probably null	Het
Pkm	T	A	9: 59,578,923 (GRCm39)	I301N	probably damaging	Het
Pramel1	T	A	4: 143,123,961 (GRCm39)	I212N	probably benign	Het
Prdm6	A	T	18: 53,701,373 (GRCm39)	I549F	probably damaging	Het
Prpf8	A	G	11: 75,386,870 (GRCm39)	E1105G	probably benign	Het
Rad51b	T	A	12: 79,704,662 (GRCm39)	V274E	probably damaging	Het
Rd3l	T	A	12: 111,946,593 (GRCm39)	Y61F	probably damaging	Het
Resf1	T	A	6: 149,229,906 (GRCm39)	I984N	probably damaging	Het
Rgs11	T	C	17: 26,427,233 (GRCm39)	V388A	probably damaging	Het
Rictor	A	G	15: 6,812,566 (GRCm39)	I901V	probably benign	Het
Riox2	A	G	16: 59,312,195 (GRCm39)	D444G	probably benign	Het
Scn2a	T	A	2: 65,594,014 (GRCm39)	V1621E	probably damaging	Het
Sec11c	A	G	18: 65,945,818 (GRCm39)	I94V	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc34a1	T	C	13: 55,556,815 (GRCm39)	I337T	probably benign	Het
Slc6a19	T	C	13: 73,830,269 (GRCm39)	K516E	probably benign	Het
Slco1b2	A	T	6: 141,628,980 (GRCm39)	M596L	probably benign	Het
Smarce1	A	G	11: 99,110,511 (GRCm39)	I100T	possibly damaging	Het
Stk32c	A	T	7: 138,705,161 (GRCm39)	M119K	possibly damaging	Het
Tekt2	T	C	4: 126,217,266 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,461,177 (GRCm39)	N908Y	probably damaging	Het
Tex38	A	G	4: 115,637,792 (GRCm39)	S4P	probably benign	Het
Top2b	T	A	14: 16,393,239 (GRCm38)	H299Q	probably benign	Het
Vmn2r109	A	T	17: 20,774,531 (GRCm39)	Y275N	possibly damaging	Het
Vmn2r116	C	T	17: 23,605,916 (GRCm39)	T276I	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
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'- AGCAGATGGAGATTTGTCAGCAC -3'
(R):5'- CTTTGGTCACATGGAGCTAACTC -3'

Sequencing Primer
(F):5'- CAGATGGAGATTTGTCAGCACTTCTC -3'
(R):5'- GTCACATGGAGCTAACTCACTAGTG -3'

Posted On

2021-10-11