Incidental Mutation 'R0180:Triml2'
ID 23822
Institutional Source Beutler Lab
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 # R0180 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 43633578-43646918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43643346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 223 (I223L)
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: I223L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132971
Gene: ENSMUSG00000091490
AA Change: I223L

DomainStartEndE-ValueType
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: I223L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000209872
AA Change: I176L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000210136
AA Change: I223L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211228
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 89.5%
Validation Efficiency 77% (53/69)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T A 19: 21,630,003 (GRCm39) N24Y probably damaging Het
2810408A11Rik A T 11: 69,789,702 (GRCm39) M311K probably benign Het
Ackr2 T C 9: 121,737,982 (GRCm39) I119T probably benign Het
Adamtsl3 A G 7: 82,225,198 (GRCm39) M336V probably benign Het
Adhfe1 T A 1: 9,634,082 (GRCm39) F374I probably benign Het
Apob C T 12: 8,058,285 (GRCm39) Q2256* probably null Het
Arg1 T C 10: 24,792,728 (GRCm39) I169V probably benign Het
Atxn1 A G 13: 45,711,024 (GRCm39) V636A probably damaging Het
B3gnt5 T A 16: 19,587,850 (GRCm39) I23K possibly damaging Het
Catsperg1 A T 7: 28,889,856 (GRCm39) probably null Het
Celf3 T A 3: 94,392,647 (GRCm39) F115L probably damaging Het
Cep192 T A 18: 67,968,559 (GRCm39) H984Q probably damaging Het
Col18a1 A G 10: 76,932,351 (GRCm39) V493A probably benign Het
Col5a2 C T 1: 45,450,620 (GRCm39) G376S probably damaging Het
Colec12 A G 18: 9,848,890 (GRCm39) H356R probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cracr2a T C 6: 127,581,037 (GRCm39) probably null Het
Ctsr T C 13: 61,310,559 (GRCm39) H62R probably damaging Het
Cyp4f40 G T 17: 32,878,641 (GRCm39) W61L probably benign Het
Dnah9 T G 11: 66,038,116 (GRCm39) H140P probably damaging Het
Dnai7 A G 6: 145,128,944 (GRCm39) probably benign Het
Dnm1 T G 2: 32,218,005 (GRCm39) I464L probably damaging Het
Dnmt1 G A 9: 20,819,916 (GRCm39) T1409I probably damaging Het
Dock1 G A 7: 134,700,566 (GRCm39) D1109N probably damaging Het
Efhc1 A G 1: 21,037,713 (GRCm39) M297V probably benign Het
Emcn A T 3: 137,124,755 (GRCm39) probably null Het
Ephb1 A T 9: 101,804,703 (GRCm39) M905K probably damaging Het
Fbxw10 A G 11: 62,743,922 (GRCm39) Y276C probably benign Het
Fermt3 C A 19: 6,979,711 (GRCm39) S474I possibly damaging Het
Frg1 T A 8: 41,852,105 (GRCm39) probably null Het
Gbf1 T C 19: 46,274,161 (GRCm39) S1732P probably benign Het
Gbp8 A C 5: 105,179,142 (GRCm39) L119R probably damaging Het
Gldc C T 19: 30,078,217 (GRCm39) A927T possibly damaging Het
Gm8836 T A 6: 70,237,389 (GRCm39) probably benign Het
Grhl3 C T 4: 135,281,841 (GRCm39) V344I probably benign Het
Hhipl1 T A 12: 108,294,329 (GRCm39) L745H probably damaging Het
Ido1 T C 8: 25,083,156 (GRCm39) I90V possibly damaging Het
Itpr2 T A 6: 146,403,407 (GRCm39) probably benign Het
Kif1b T G 4: 149,298,116 (GRCm39) S1029R probably damaging Het
Kmt2a G A 9: 44,738,148 (GRCm39) probably benign Het
Limk1 T C 5: 134,698,115 (GRCm39) N215D probably damaging Het
Lims2 A G 18: 32,089,368 (GRCm39) K144E probably benign Het
Mfsd6l A T 11: 68,447,371 (GRCm39) Q74L possibly damaging Het
Mroh1 T A 15: 76,312,450 (GRCm39) S546T probably damaging Het
Ncbp3 T A 11: 72,955,804 (GRCm39) probably null Het
Nlrx1 G A 9: 44,166,756 (GRCm39) H776Y possibly damaging Het
Nptxr T C 15: 79,678,604 (GRCm39) M228V probably benign Het
Nsf T A 11: 103,821,606 (GRCm39) L13F probably damaging Het
Nyap1 T C 5: 137,736,283 (GRCm39) E68G probably damaging Het
Or10p22 A T 10: 128,826,703 (GRCm39) R307S possibly damaging Het
Or51r1 A G 7: 102,228,239 (GRCm39) Y179C probably damaging Het
Pcdhb9 A G 18: 37,535,307 (GRCm39) N434D probably damaging Het
Pgm5 T C 19: 24,793,127 (GRCm39) D313G probably damaging Het
Pkdcc G A 17: 83,529,299 (GRCm39) probably null Het
Pkp1 T C 1: 135,814,538 (GRCm39) K261R probably benign Het
Pnpla6 A G 8: 3,574,250 (GRCm39) probably null Het
Polr3b A G 10: 84,458,379 (GRCm39) T17A probably benign Het
Ppt2 A T 17: 34,845,477 (GRCm39) M98K probably damaging Het
Rasal3 T C 17: 32,618,379 (GRCm39) D142G probably benign Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Rhbdf1 A T 11: 32,160,042 (GRCm39) V153D possibly damaging Het
Slc6a3 C T 13: 73,710,455 (GRCm39) T355M probably damaging Het
Snrnp35 A T 5: 124,628,883 (GRCm39) probably benign Het
Sorcs2 A T 5: 36,311,189 (GRCm39) I37N probably damaging Het
Tecta G T 9: 42,278,109 (GRCm39) P1133Q probably benign Het
Tmem145 A G 7: 25,014,124 (GRCm39) I413V probably benign Het
Trappc11 G T 8: 47,981,009 (GRCm39) T144K possibly damaging Het
Ube2g2 T A 10: 77,466,573 (GRCm39) N19K possibly damaging Het
Ubqln3 A G 7: 103,791,047 (GRCm39) Y348H probably damaging Het
Wfs1 A G 5: 37,124,372 (GRCm39) F840L probably damaging Het
Zc3h11a T C 1: 133,549,349 (GRCm39) I771V probably benign Het
Zdhhc23 G A 16: 43,794,066 (GRCm39) P203S probably benign Het
Zfp106 T G 2: 120,364,356 (GRCm39) T684P probably damaging Het
Zfp217 A T 2: 169,962,057 (GRCm39) L90Q probably damaging Het
Other mutations in Triml2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GCACGTCTTTCTCCCTCAGTAACAG -3'
(R):5'- CCTTGCCTCATACCATAGAAGTGCC -3'

Sequencing Primer
(F):5'- TTTCTCCCTCAGTAACAGAAAGG -3'
(R):5'- GTGCCTACAGTATCTAGACAGCTTG -3'
Posted On 2013-04-16