Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01534:Triml2'

89903

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Triml2

Ensembl Gene

ENSMUSG00000091490

Gene Name

tripartite motif family-like 2

Synonyms

EG622117

Accession Numbers

Essential gene?

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

Stock #

IGL01534

Quality Score

Status

Chromosome

Chromosomal Location

43633578-43646918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43640660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

Ref Sequence

ENSEMBL: ENSMUSP00000148196 (fasta)

Gene Model

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

AlphaFold

E9PW10

Predicted Effect

probably benign
Transcript: ENSMUST00000163869
AA Change: V172A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132971
Gene: ENSMUSG00000091490
AA Change: V172A

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: V172A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000209872

Predicted Effect

probably benign
Transcript: ENSMUST00000210136
AA Change: V172A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211228

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,197,146 (GRCm39)	L111P	possibly damaging	Het
Adck5	C	A	15: 76,478,926 (GRCm39)	H383Q	probably damaging	Het
Arb2a	T	A	13: 78,147,830 (GRCm39)		probably benign	Het
Asns	T	A	6: 7,675,397 (GRCm39)	H535L	probably benign	Het
Atf5	A	G	7: 44,462,462 (GRCm39)	S221P	probably damaging	Het
Atr	T	C	9: 95,747,599 (GRCm39)	Y294H	probably damaging	Het
B230307C23Rik	A	G	16: 97,809,961 (GRCm39)		probably benign	Het
C1qtnf6	C	T	15: 78,409,416 (GRCm39)	E144K	probably benign	Het
Casp8ap2	C	T	4: 32,648,134 (GRCm39)		probably benign	Het
Cd48	C	A	1: 171,523,307 (GRCm39)	P50Q	possibly damaging	Het
Cnnm4	T	C	1: 36,538,596 (GRCm39)	Y593H	probably benign	Het
Col27a1	G	A	4: 63,144,019 (GRCm39)	R569Q	probably benign	Het
Cubn	A	T	2: 13,470,744 (GRCm39)	C549*	probably null	Het
Dsg1a	T	A	18: 20,474,053 (GRCm39)	M1042K	probably benign	Het
Dzip1	T	A	14: 119,114,651 (GRCm39)	T835S	probably damaging	Het
Eif3c	T	C	7: 126,156,867 (GRCm39)	T389A	probably benign	Het
Erlin2	G	T	8: 27,521,985 (GRCm39)	E177*	probably null	Het
Gabrb1	T	A	5: 72,026,772 (GRCm39)	S91T	possibly damaging	Het
Grik3	T	C	4: 125,579,983 (GRCm39)	V576A	probably damaging	Het
Gtpbp2	T	A	17: 46,474,430 (GRCm39)	Y70N	probably damaging	Het
Idh3a	T	A	9: 54,508,506 (GRCm39)		probably benign	Het
Ift74	G	A	4: 94,568,181 (GRCm39)	R406H	probably benign	Het
Kcna7	C	A	7: 45,055,935 (GRCm39)	N50K	probably damaging	Het
Kcnd2	T	C	6: 21,726,144 (GRCm39)	S546P	probably benign	Het
Lrp4	G	A	2: 91,303,986 (GRCm39)	D134N	probably damaging	Het
Mcm2	A	G	6: 88,864,700 (GRCm39)		probably null	Het
Nlrp12	T	C	7: 3,288,463 (GRCm39)	Y683C	probably benign	Het
Or14j3	A	T	17: 37,900,963 (GRCm39)	Y94N	possibly damaging	Het
Or2d4	T	A	7: 106,543,546 (GRCm39)	I221F	probably damaging	Het
Or8i2	A	G	2: 86,852,228 (GRCm39)	I220T	probably damaging	Het
Or9i1	A	T	19: 13,839,283 (GRCm39)	N42I	probably damaging	Het
Or9i14	T	A	19: 13,792,666 (GRCm39)	H96L	probably benign	Het
P2rx7	A	C	5: 122,814,761 (GRCm39)	I409L	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Rabggtb	A	G	3: 153,615,896 (GRCm39)		probably null	Het
Rgs4	A	T	1: 169,572,085 (GRCm39)	C71*	probably null	Het
Rnase10	T	C	14: 51,245,436 (GRCm39)	F5L	probably benign	Het
Scn11a	T	A	9: 119,609,888 (GRCm39)	T987S	probably benign	Het
Shox2	A	C	3: 66,885,696 (GRCm39)	D126E	probably benign	Het
Slc12a1	A	G	2: 125,059,830 (GRCm39)	D910G	probably damaging	Het
Slc15a1	C	T	14: 121,702,364 (GRCm39)	C594Y	possibly damaging	Het
Spock2	C	T	10: 59,962,883 (GRCm39)		probably benign	Het
Togaram1	G	T	12: 65,013,321 (GRCm39)	D191Y	probably damaging	Het
Tubb3	C	T	8: 124,147,705 (GRCm39)	R213C	probably benign	Het
Vmn2r4	A	T	3: 64,313,844 (GRCm39)	V379E	probably damaging	Het
Zfp446	C	T	7: 12,713,493 (GRCm39)	P153L	probably damaging	Het
Zfp608	A	T	18: 55,032,004 (GRCm39)	N645K	probably damaging	Het

Other mutations in Triml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-03