Incidental Mutation 'IGL02392:Trim45'
ID294277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim45
Ensembl Gene ENSMUSG00000033233
Gene Nametripartite motif-containing 45
Synonyms4921530N01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02392
Quality Score
Status
Chromosome3
Chromosomal Location100922202-100936920 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100925305 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 285 (I285V)
Ref Sequence ENSEMBL: ENSMUSP00000115669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037409] [ENSMUST00000094048] [ENSMUST00000106980] [ENSMUST00000134993]
Predicted Effect probably benign
Transcript: ENSMUST00000037409
AA Change: I285V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
AA Change: I285V

DomainStartEndE-ValueType
RING 29 97 5.35e-5 SMART
BBOX 130 176 1.03e-1 SMART
BBOX 186 227 4.34e-5 SMART
BBC 234 360 3.55e-9 SMART
IG_FLMN 398 500 7.63e-33 SMART
low complexity region 532 549 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094048
AA Change: I236V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000091590
Gene: ENSMUSG00000033233
AA Change: I236V

DomainStartEndE-ValueType
BBOX 81 127 1.03e-1 SMART
BBOX 137 178 4.34e-5 SMART
BBC 185 311 3.55e-9 SMART
IG_FLMN 349 451 7.63e-33 SMART
low complexity region 483 500 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106980
AA Change: I285V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
AA Change: I285V

DomainStartEndE-ValueType
RING 29 97 5.35e-5 SMART
BBOX 130 176 1.03e-1 SMART
BBOX 186 227 4.34e-5 SMART
BBC 234 360 3.55e-9 SMART
IG_FLMN 398 500 7.63e-33 SMART
low complexity region 532 549 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134993
AA Change: I285V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: I285V

DomainStartEndE-ValueType
RING 29 97 5.35e-5 SMART
BBOX 130 176 1.03e-1 SMART
BBOX 186 227 4.34e-5 SMART
BBC 234 360 3.55e-9 SMART
IG_FLMN 398 500 7.63e-33 SMART
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 tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
C2cd6 T C 1: 59,094,838 N8S probably benign Het
Cdh8 G A 8: 99,030,755 T737M probably damaging Het
Celsr3 T C 9: 108,834,721 probably benign Het
Cenph T A 13: 100,772,761 Q46L probably benign Het
Dlg5 A G 14: 24,150,209 C1395R probably damaging Het
Dnah8 C T 17: 30,818,051 probably benign Het
Dolk T C 2: 30,285,728 N102D probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Farp2 G A 1: 93,577,650 R368Q probably damaging Het
Fermt3 A T 19: 7,018,815 M4K probably benign Het
Fndc8 A C 11: 82,898,603 T196P probably damaging Het
Galc G A 12: 98,207,413 T630I probably damaging Het
Gm21970 T G 16: 91,414,657 S128A possibly damaging Het
Gpr146 T C 5: 139,392,778 S112P probably damaging Het
Grip2 A G 6: 91,787,295 S51P probably damaging Het
Htra2 G T 6: 83,054,299 T43N possibly damaging Het
Lnpep T C 17: 17,579,183 Y70C possibly damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mtdh A T 15: 34,099,577 N158Y probably damaging Het
Neo1 A T 9: 58,925,811 H550Q possibly damaging Het
Olfr480 A C 7: 108,066,503 F68L probably benign Het
Olfr93 C T 17: 37,151,088 V295I probably benign Het
Pex1 C T 5: 3,605,952 Q260* probably null Het
Pex6 T C 17: 46,723,499 V758A probably damaging Het
Ppil2 T C 16: 17,088,838 T500A probably benign Het
Qsox1 T C 1: 155,812,600 E67G probably damaging Het
Rimbp2 C T 5: 128,771,797 S895N probably benign Het
Rnls A G 19: 33,202,612 V28A possibly damaging Het
Spidr T C 16: 15,889,630 *934W probably null Het
Spta1 A T 1: 174,218,814 M1654L probably damaging Het
Srbd1 C A 17: 85,988,373 V870F probably benign Het
Suco A T 1: 161,834,567 M765K probably benign Het
Taok1 A G 11: 77,549,352 Y610H probably benign Het
Thbs1 A G 2: 118,114,660 N238S probably benign Het
Them7 T A 2: 105,378,875 L180* probably null Het
Trim66 T C 7: 109,460,274 K921R probably benign Het
Ttn A G 2: 76,771,543 S10265P probably damaging Het
Vgll3 A T 16: 65,815,670 Y13F probably damaging Het
Ylpm1 T A 12: 85,014,957 M544K unknown Het
Zmym1 T A 4: 127,048,463 S711C probably damaging Het
Other mutations in Trim45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Trim45 APN 3 100931726 intron probably benign
IGL01472:Trim45 APN 3 100928065 missense probably benign 0.00
IGL01996:Trim45 APN 3 100928109 nonsense probably null 0.00
IGL03229:Trim45 APN 3 100923069 missense probably damaging 1.00
IGL02837:Trim45 UTSW 3 100931627 intron probably benign
R0021:Trim45 UTSW 3 100925420 missense probably damaging 1.00
R0243:Trim45 UTSW 3 100929844 missense probably benign 0.05
R0501:Trim45 UTSW 3 100923219 missense probably damaging 1.00
R1222:Trim45 UTSW 3 100927298 missense probably benign 0.14
R1418:Trim45 UTSW 3 100927298 missense probably benign 0.14
R1813:Trim45 UTSW 3 100922967 missense probably benign 0.16
R2148:Trim45 UTSW 3 100932044 nonsense probably null
R2383:Trim45 UTSW 3 100925227 missense probably damaging 0.97
R4368:Trim45 UTSW 3 100923186 missense probably damaging 1.00
R4769:Trim45 UTSW 3 100931734 intron probably benign
R4840:Trim45 UTSW 3 100925488 missense possibly damaging 0.95
R5030:Trim45 UTSW 3 100928072 missense probably damaging 1.00
R5272:Trim45 UTSW 3 100929919 missense probably damaging 1.00
R5298:Trim45 UTSW 3 100925471 missense probably damaging 1.00
R5498:Trim45 UTSW 3 100925141 missense possibly damaging 0.67
R5589:Trim45 UTSW 3 100929941 missense probably damaging 1.00
R6537:Trim45 UTSW 3 100925396 missense probably benign 0.39
R6850:Trim45 UTSW 3 100923225 nonsense probably null
R7009:Trim45 UTSW 3 100931879 intron probably benign
R7122:Trim45 UTSW 3 100932037 missense unknown
R7583:Trim45 UTSW 3 100925023 missense probably damaging 1.00
X0066:Trim45 UTSW 3 100931767 intron probably benign
Z1088:Trim45 UTSW 3 100925640 missense probably benign 0.11
Posted On2015-04-16