Incidental Mutation 'IGL02082:Trim46'
ID283399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim46
Ensembl Gene ENSMUSG00000042766
Gene Nametripartite motif-containing 46
SynonymsTRIFIC
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.840) question?
Stock #IGL02082
Quality Score
Status
Chromosome3
Chromosomal Location89234177-89246309 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 89239000 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 395 (A395S)
Ref Sequence ENSEMBL: ENSMUSP00000119270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041022] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000143637]
Predicted Effect probably benign
Transcript: ENSMUST00000041022
AA Change: A395S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: A395S

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 271 395 3e-13 BLAST
FN3 430 515 2.03e-2 SMART
low complexity region 561 571 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090924
AA Change: A382S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766
AA Change: A382S

DomainStartEndE-ValueType
RING 20 120 1.92e-6 SMART
BBOX 209 250 9.59e-7 SMART
Blast:BBC 258 382 8e-13 BLAST
FN3 417 502 2.03e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107464
AA Change: A372S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: A372S

DomainStartEndE-ValueType
RING 10 110 1.92e-6 SMART
BBOX 199 240 9.59e-7 SMART
Blast:BBC 248 372 2e-13 BLAST
FN3 407 492 2.03e-2 SMART
low complexity region 538 548 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139419
Predicted Effect probably benign
Transcript: ENSMUST00000143637
AA Change: A395S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766
AA Change: A395S

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 270 391 4e-11 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,970,198 T2A probably benign Het
Atp9b A C 18: 80,891,930 probably benign Het
Brinp3 T C 1: 146,751,862 C278R probably damaging Het
Cfap54 T C 10: 93,081,458 S47G unknown Het
Clec16a T C 16: 10,614,568 L484P probably damaging Het
Cnksr1 C A 4: 134,236,052 G71C probably damaging Het
Dnah12 A T 14: 26,707,162 N246I possibly damaging Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Focad C T 4: 88,230,578 Q511* probably null Het
Gpr63 A G 4: 25,008,564 probably benign Het
Iah1 C A 12: 21,317,404 S37* probably null Het
Inpp4a T A 1: 37,366,627 probably benign Het
Mcm2 A T 6: 88,888,236 Y486* probably null Het
Mtmr10 A G 7: 64,333,490 probably benign Het
Nbea A G 3: 55,968,167 L1694S possibly damaging Het
Pafah1b1 A G 11: 74,699,333 S4P probably benign Het
Rnase10 A T 14: 51,009,399 E41V probably damaging Het
Slc17a6 G T 7: 51,669,029 R473L probably benign Het
Tbc1d9b A G 11: 50,163,882 D951G probably benign Het
Tk1 C A 11: 117,825,727 probably null Het
Vmn1r113 C T 7: 20,787,747 H155Y probably benign Het
Vmn1r222 A G 13: 23,232,329 M238T probably damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Other mutations in Trim46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Trim46 APN 3 89244418 unclassified probably benign
IGL02405:Trim46 APN 3 89242485 missense probably benign 0.09
R0107:Trim46 UTSW 3 89236333 missense probably damaging 1.00
R0295:Trim46 UTSW 3 89245113 unclassified probably benign
R0330:Trim46 UTSW 3 89236513 missense probably damaging 1.00
R1303:Trim46 UTSW 3 89242208 missense probably benign 0.03
R1436:Trim46 UTSW 3 89243661 missense probably damaging 1.00
R1458:Trim46 UTSW 3 89235068 unclassified probably null
R1990:Trim46 UTSW 3 89237701 missense probably damaging 1.00
R1991:Trim46 UTSW 3 89237701 missense probably damaging 1.00
R1992:Trim46 UTSW 3 89237701 missense probably damaging 1.00
R2102:Trim46 UTSW 3 89235197 missense probably damaging 1.00
R3729:Trim46 UTSW 3 89234949 missense probably benign
R3730:Trim46 UTSW 3 89234949 missense probably benign
R4603:Trim46 UTSW 3 89243651 missense probably benign 0.11
R6648:Trim46 UTSW 3 89235242 missense possibly damaging 0.88
R6962:Trim46 UTSW 3 89238996 missense probably damaging 1.00
R7761:Trim46 UTSW 3 89242258 missense probably damaging 1.00
R7905:Trim46 UTSW 3 89244326 missense probably damaging 1.00
R7988:Trim46 UTSW 3 89244326 missense probably damaging 1.00
X0021:Trim46 UTSW 3 89243709 missense probably damaging 1.00
Posted On2015-04-16