Mutagenetix > Incidental Mutation

Incidental Mutation 'R7971:Triml2'

650614

Institutional Source

Beutler Lab

Gene Symbol

Triml2

Ensembl Gene

ENSMUSG00000091490

Gene Name

tripartite motif family-like 2

Synonyms

EG622117

MMRRC Submission

046014-MU

Accession Numbers

Essential gene?

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

Stock #

R7971 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43633578-43646918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43643313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 212 (S212P)

Ref Sequence

ENSEMBL: ENSMUSP00000147371 (fasta)

Gene Model

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

AlphaFold

E9PW10

Predicted Effect

probably damaging
Transcript: ENSMUST00000163869
AA Change: S212P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132971
Gene: ENSMUSG00000091490
AA Change: S212P

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 damaging
Transcript: ENSMUST00000209200
AA Change: S212P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209872
AA Change: S165P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210136
AA Change: S212P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	G	A	11: 81,754,526 (GRCm39)	A16T	unknown	Het
Abcc1	T	A	16: 14,266,443 (GRCm39)	D880E	probably benign	Het
Adamts2	G	A	11: 50,647,523 (GRCm39)	V299I	probably damaging	Het
Akap6	T	C	12: 53,186,578 (GRCm39)	S1331P	probably damaging	Het
Alms1	T	C	6: 85,605,661 (GRCm39)	L1968S	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Cacnb2	A	T	2: 14,976,409 (GRCm39)	M277L	possibly damaging	Het
Cd80	T	A	16: 38,294,391 (GRCm39)	Y91*	probably null	Het
Cfap46	A	G	7: 139,215,043 (GRCm39)	S1561P	unknown	Het
Clasp1	C	T	1: 118,449,559 (GRCm39)	R647W	probably damaging	Het
Creld1	T	C	6: 113,468,933 (GRCm39)	V299A	probably benign	Het
Csk	C	A	9: 57,535,970 (GRCm39)	G260V	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dgkg	G	A	16: 22,388,966 (GRCm39)	Q403*	probably null	Het
Dnaaf2	T	C	12: 69,244,119 (GRCm39)	D314G	probably damaging	Het
Dsp	T	A	13: 38,376,499 (GRCm39)	L1428Q	probably damaging	Het
Fastkd1	A	G	2: 69,537,703 (GRCm39)	V293A	probably benign	Het
Gm4353	C	A	7: 115,682,747 (GRCm39)	S278I	possibly damaging	Het
Hmgb2	A	G	8: 57,966,168 (GRCm39)	M75V	possibly damaging	Het
Hoxa4	G	A	6: 52,168,711 (GRCm39)		probably benign	Het
Ifi206	A	T	1: 173,298,976 (GRCm39)	W877R	unknown	Het
Ifi44	T	A	3: 151,454,857 (GRCm39)	I123F	possibly damaging	Het
Kcnh6	A	G	11: 105,908,353 (GRCm39)	Y323C	probably damaging	Het
Lars1	T	C	18: 42,351,631 (GRCm39)	T858A	probably benign	Het
Mest	T	A	6: 30,740,734 (GRCm39)	I38N		Het
Npy2r	A	T	3: 82,448,175 (GRCm39)	I200N	probably damaging	Het
Olfm4	T	A	14: 80,259,240 (GRCm39)	M496K	probably damaging	Het
Olfml2a	A	T	2: 38,831,794 (GRCm39)		probably null	Het
Omd	A	T	13: 49,743,730 (GRCm39)	H260L	probably benign	Het
Or8c16	G	T	9: 38,130,843 (GRCm39)	L238F	probably benign	Het
Pigk	C	A	3: 152,450,176 (GRCm39)	Q274K	probably benign	Het
Pmpca	G	A	2: 26,283,164 (GRCm39)	G352R	probably damaging	Het
Prex1	C	T	2: 166,423,859 (GRCm39)	S1181N	probably damaging	Het
Prkg2	A	T	5: 99,079,873 (GRCm39)	F762Y	probably damaging	Het
Rcc1l	A	G	5: 134,194,208 (GRCm39)	S250P	probably damaging	Het
Rufy1	A	T	11: 50,312,498 (GRCm39)	F152Y	probably damaging	Het
Scaf1	T	A	7: 44,652,965 (GRCm39)	T1179S	unknown	Het
Sh3d19	A	G	3: 86,022,103 (GRCm39)	D511G	probably benign	Het
Shroom3	C	T	5: 93,098,933 (GRCm39)	S1471L	probably damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc13a4	A	G	6: 35,248,695 (GRCm39)	L484P	probably damaging	Het
Slc35a1	T	C	4: 34,664,161 (GRCm39)	D319G	probably benign	Het
Synm	T	C	7: 67,384,983 (GRCm39)	E893G	possibly damaging	Het
Tatdn2	A	G	6: 113,687,235 (GRCm39)		probably null	Het
Thada	T	A	17: 84,580,197 (GRCm39)	D1419V	possibly damaging	Het
Tmem87b	A	G	2: 128,692,250 (GRCm39)	D535G	probably null	Het
Tnfrsf25	A	C	4: 152,204,193 (GRCm39)	Q378P	probably damaging	Het
Trim34a	T	C	7: 103,897,025 (GRCm39)	C30R	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	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
R7113:Triml2	UTSW	8	43,636,370 (GRCm39)	missense	probably benign	0.01
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
RF011:Triml2	UTSW	8	43,636,201 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCCTTAGAATGCAAAGTGC -3'
(R):5'- GAACATGAGCAGATGTTTGTGGATG -3'

Sequencing Primer
(F):5'- TGCAAAGTGCTATTTAAAAAGGTGAG -3'
(R):5'- GATGCTGGGATGGCCATG -3'

Posted On

2020-09-15