Mutagenetix > Incidental Mutation

Incidental Mutation 'R7113:Triml2'

551627

Institutional Source

Beutler Lab

Gene Symbol

Triml2

Ensembl Gene

ENSMUSG00000091490

Gene Name

tripartite motif family-like 2

Synonyms

EG622117

MMRRC Submission

045205-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43633578-43646918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43636370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 52 (Y52N)

Ref Sequence

ENSEMBL: ENSMUSP00000147371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163869] [ENSMUST00000209200] [ENSMUST00000209872] [ENSMUST00000210136]

AlphaFold

E9PW10

Predicted Effect

probably benign
Transcript: ENSMUST00000163869
AA Change: Y52N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000132971
Gene: ENSMUSG00000091490
AA Change: Y52N

Domain	Start	End	E-Value	Type
Pfam:zf-B_box	13	51	7e-7	PFAM
PRY	242	294	2.86e-14	SMART
Pfam:SPRY	297	414	2.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209200
AA Change: Y52N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000209872
AA Change: Y52N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000210136
AA Change: Y52N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (53/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,449,267 (GRCm39)	S226P	probably benign	Het
Adarb2	T	C	13: 8,781,881 (GRCm39)	Y586H	probably damaging	Het
Ano7	A	T	1: 93,313,342 (GRCm39)	E160V	probably benign	Het
Apob	G	C	12: 8,045,539 (GRCm39)	A895P	probably damaging	Het
Ccdc157	T	C	11: 4,098,889 (GRCm39)	T206A	possibly damaging	Het
Ceacam18	A	G	7: 43,291,400 (GRCm39)	N281D	probably benign	Het
Chil4	T	C	3: 106,110,083 (GRCm39)	D337G	probably damaging	Het
Chil4	T	G	3: 106,121,664 (GRCm39)	K62Q	probably benign	Het
Cic	A	T	7: 24,972,869 (GRCm39)	I867F	probably benign	Het
Cntln	A	G	4: 84,968,064 (GRCm39)	E761G	probably damaging	Het
Cyp2d26	T	A	15: 82,674,403 (GRCm39)	Y493F	probably benign	Het
Dync2h1	A	T	9: 7,075,788 (GRCm39)	F3026L	probably benign	Het
Ehd3	T	A	17: 74,137,179 (GRCm39)	D449E	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Herc2	T	G	7: 55,853,597 (GRCm39)	D3696E	probably damaging	Het
Hivep3	T	A	4: 119,955,566 (GRCm39)	I1294N	probably damaging	Het
Il19	T	C	1: 130,862,732 (GRCm39)	I139V	probably benign	Het
Jmjd1c	T	A	10: 66,993,780 (GRCm39)	I87N	probably damaging	Het
Kcnma1	A	G	14: 23,513,224 (GRCm39)	Y392H	probably damaging	Het
Kcnv2	T	C	19: 27,301,448 (GRCm39)	L433P	probably damaging	Het
Kif9	A	T	9: 110,335,732 (GRCm39)	N378Y	probably damaging	Het
Lonrf1	A	T	8: 36,697,664 (GRCm39)	V440E	probably benign	Het
Lrrc37	A	G	11: 103,509,625 (GRCm39)	I781T	unknown	Het
Manea	A	T	4: 26,336,718 (GRCm39)	L186Q	probably damaging	Het
Mas1	A	G	17: 13,061,324 (GRCm39)	I33T	probably benign	Het
Med13l	A	G	5: 118,864,330 (GRCm39)	S389G	probably benign	Het
Nxph3	T	C	11: 95,401,892 (GRCm39)	N174S	possibly damaging	Het
Or1l4	T	A	2: 37,091,568 (GRCm39)	F105Y	possibly damaging	Het
Or8g52	G	C	9: 39,630,973 (GRCm39)	C150S	probably benign	Het
Pcdha5	A	G	18: 37,094,757 (GRCm39)	D422G	probably benign	Het
Pias4	A	C	10: 80,990,287 (GRCm39)	V416G	possibly damaging	Het
Pik3cg	T	A	12: 32,255,666 (GRCm39)	Y107F	probably damaging	Het
Plcg1	T	A	2: 160,590,203 (GRCm39)	W156R	possibly damaging	Het
Plcl2	A	G	17: 50,913,492 (GRCm39)	D167G	probably damaging	Het
Podxl	T	A	6: 31,501,668 (GRCm39)		probably null	Het
Ppp1r2	T	C	16: 31,073,536 (GRCm39)	D197G	probably benign	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Rad17	A	T	13: 100,766,025 (GRCm39)	S368T	probably benign	Het
Rdh8	G	T	9: 20,736,623 (GRCm39)	R230L	probably benign	Het
Rpl35	A	C	2: 38,894,168 (GRCm39)	L58R	probably damaging	Het
Rtp3	A	C	9: 110,815,767 (GRCm39)	C199W	probably damaging	Het
S100pbp	G	A	4: 129,075,896 (GRCm39)	T143I	probably damaging	Het
Scarf1	A	G	11: 75,416,904 (GRCm39)	E782G	probably damaging	Het
Slc30a9	T	C	5: 67,484,205 (GRCm39)	V114A	probably benign	Het
Speer1c	G	A	5: 10,292,977 (GRCm39)	P189S		Het
Stpg2	G	A	3: 139,407,535 (GRCm39)		probably null	Het
Tdpoz1	T	C	3: 93,578,113 (GRCm39)	S224G	possibly damaging	Het
Trpm2	A	T	10: 77,783,765 (GRCm39)	I236N	probably damaging	Het
Unc5c	A	G	3: 141,507,054 (GRCm39)	D602G	probably benign	Het
Upk1a	A	G	7: 30,309,236 (GRCm39)	S29P	probably damaging	Het
Vmn2r54	A	G	7: 12,350,001 (GRCm39)	L527P	probably damaging	Het
Vmn2r72	A	T	7: 85,399,011 (GRCm39)		probably null	Het
Vstm2l	G	T	2: 157,756,649 (GRCm39)		probably benign	Het
Vwf	G	T	6: 125,632,007 (GRCm39)	G1952V		Het
Zfand6	A	C	7: 84,265,077 (GRCm39)	I208S	probably damaging	Het
Zfp236	A	G	18: 82,638,462 (GRCm39)	I1386T	possibly damaging	Het

Other mutations in Triml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Triml2	APN	8	43,640,660 (GRCm39)	missense	probably benign	0.00
IGL01919:Triml2	APN	8	43,643,349 (GRCm39)	missense	probably damaging	1.00
IGL03382:Triml2	APN	8	43,646,776 (GRCm39)	missense	probably benign	0.00
R0025:Triml2	UTSW	8	43,638,469 (GRCm39)	missense	probably benign	0.00
R0058:Triml2	UTSW	8	43,638,306 (GRCm39)	splice site	probably benign
R0058:Triml2	UTSW	8	43,638,306 (GRCm39)	splice site	probably benign
R0180:Triml2	UTSW	8	43,643,346 (GRCm39)	missense	probably benign	0.14
R1671:Triml2	UTSW	8	43,636,780 (GRCm39)	missense	possibly damaging	0.88
R2143:Triml2	UTSW	8	43,646,548 (GRCm39)	missense	probably damaging	1.00
R2210:Triml2	UTSW	8	43,636,397 (GRCm39)	missense	probably damaging	1.00
R3156:Triml2	UTSW	8	43,640,716 (GRCm39)	missense	probably benign	0.10
R3902:Triml2	UTSW	8	43,643,397 (GRCm39)	missense	probably benign	0.03
R4981:Triml2	UTSW	8	43,640,717 (GRCm39)	missense	probably benign	0.10
R6125:Triml2	UTSW	8	43,640,659 (GRCm39)	missense	probably benign	0.02
R6478:Triml2	UTSW	8	43,638,165 (GRCm39)	splice site	probably null
R6994:Triml2	UTSW	8	43,643,115 (GRCm39)	missense	possibly damaging	0.57
R7037:Triml2	UTSW	8	43,646,573 (GRCm39)	missense	probably damaging	1.00
R7660:Triml2	UTSW	8	43,646,357 (GRCm39)	missense	probably damaging	1.00
R7683:Triml2	UTSW	8	43,638,325 (GRCm39)	missense	probably damaging	0.99
R7971:Triml2	UTSW	8	43,643,313 (GRCm39)	missense	probably damaging	0.99
RF011:Triml2	UTSW	8	43,636,201 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTGCCACTGACTAGAATGTC -3'
(R):5'- AGGGTTCCCTATCTCAGCTC -3'

Sequencing Primer
(F):5'- TGACTAGAATGTCCCAAGCG -3'
(R):5'- CAAACTTGGAGATTCGCCTG -3'

Posted On

2019-05-15