Incidental Mutation 'IGL00092:Trim47'
ID306520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim47
Ensembl Gene ENSMUSG00000020773
Gene Nametripartite motif-containing 47
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00092
Quality Score
Status
Chromosome11
Chromosomal Location116105752-116127210 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116106194 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 578 (L578P)
Ref Sequence ENSEMBL: ENSMUSP00000102049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021120] [ENSMUST00000106441]
Predicted Effect probably damaging
Transcript: ENSMUST00000021120
AA Change: L579P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021120
Gene: ENSMUSG00000020773
AA Change: L579P

DomainStartEndE-ValueType
RING 9 57 3.14e-11 SMART
low complexity region 101 122 N/A INTRINSIC
BBOX 128 177 8.32e0 SMART
BBOX 181 221 1.76e-5 SMART
low complexity region 337 349 N/A INTRINSIC
low complexity region 350 358 N/A INTRINSIC
PRY 431 482 1.4e-2 SMART
Blast:SPRY 483 632 1e-11 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000106441
AA Change: L578P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102049
Gene: ENSMUSG00000020773
AA Change: L578P

DomainStartEndE-ValueType
RING 9 57 3.14e-11 SMART
low complexity region 101 122 N/A INTRINSIC
BBOX 128 177 8.32e0 SMART
BBOX 181 221 1.76e-5 SMART
low complexity region 337 349 N/A INTRINSIC
low complexity region 350 358 N/A INTRINSIC
PRY 430 481 1.4e-2 SMART
Pfam:SPRY 482 579 1.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149957
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,928,695 D443G probably benign Het
Atg16l1 T C 1: 87,765,397 I28T possibly damaging Het
Bpi T A 2: 158,274,796 V371E probably damaging Het
Cd109 T G 9: 78,616,969 V55G probably damaging Het
Cd300c2 T C 11: 115,001,549 probably benign Het
Cic C T 7: 25,292,124 R1280C probably damaging Het
Cngb1 G A 8: 95,242,184 probably benign Het
Cntn4 G T 6: 106,506,225 C247F probably damaging Het
Disp3 C T 4: 148,241,534 V1256I probably benign Het
Farsb A T 1: 78,462,993 S338T probably benign Het
Fcnb T C 2: 28,076,801 N240S probably benign Het
Flg2 A G 3: 93,219,855 S5G possibly damaging Het
Git1 T C 11: 77,505,957 L635P probably benign Het
Gm21985 T G 2: 112,351,334 W685G probably damaging Het
Gpt2 T C 8: 85,512,324 V262A probably benign Het
Hecw2 A G 1: 53,830,737 V1444A probably damaging Het
Herc1 T C 9: 66,483,966 V4017A probably benign Het
Klhl17 T C 4: 156,233,690 T129A possibly damaging Het
Krt84 T G 15: 101,528,735 D331A probably damaging Het
Lrrc9 C T 12: 72,486,243 T963M possibly damaging Het
Mtcl1 C T 17: 66,344,319 V935I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myocd T C 11: 65,180,944 probably null Het
Nid1 A G 13: 13,476,392 N505D probably damaging Het
Ninj1 A T 13: 49,193,734 probably null Het
Olfr1375 C A 11: 51,048,400 Q98K probably benign Het
Olfr1426 A T 19: 12,087,993 D266E probably benign Het
Olfr307 C T 7: 86,336,061 V112I probably benign Het
Plscr2 T A 9: 92,290,632 probably benign Het
Ppfia2 A G 10: 106,819,492 T307A probably benign Het
Sart3 T C 5: 113,746,669 R625G probably benign Het
Sohlh2 T A 3: 55,207,815 L407H probably damaging Het
Sorcs1 A G 19: 50,190,054 S877P probably damaging Het
Stat1 T C 1: 52,122,595 M1T probably null Het
Szt2 C T 4: 118,384,250 probably benign Het
Tarsl2 G T 7: 65,652,259 probably null Het
Terb2 T A 2: 122,198,386 S141R probably benign Het
Tgfbrap1 T C 1: 43,060,123 Y177C probably damaging Het
Trappc9 A T 15: 73,026,026 I169N possibly damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn2r90 T C 17: 17,733,496 S641P probably benign Het
Vwa5a T A 9: 38,737,814 probably null Het
Zzef1 T A 11: 72,875,126 I1493N probably benign Het
Other mutations in Trim47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Trim47 APN 11 116107908 missense probably damaging 1.00
IGL02419:Trim47 APN 11 116106201 missense probably damaging 1.00
IGL03329:Trim47 APN 11 116106428 missense probably damaging 1.00
trix UTSW 11 116107957 missense probably benign
R0190:Trim47 UTSW 11 116106227 missense probably damaging 1.00
R0379:Trim47 UTSW 11 116106518 missense probably damaging 1.00
R0523:Trim47 UTSW 11 116107890 missense probably damaging 1.00
R0671:Trim47 UTSW 11 116108352 missense probably benign
R1730:Trim47 UTSW 11 116106038 missense probably damaging 1.00
R1778:Trim47 UTSW 11 116109820 missense probably damaging 1.00
R1862:Trim47 UTSW 11 116106137 missense probably damaging 1.00
R1901:Trim47 UTSW 11 116107779 missense probably damaging 1.00
R2054:Trim47 UTSW 11 116108283 missense probably benign 0.43
R2081:Trim47 UTSW 11 116106413 missense probably damaging 1.00
R2099:Trim47 UTSW 11 116106344 missense probably damaging 1.00
R3832:Trim47 UTSW 11 116107957 missense probably benign
R4948:Trim47 UTSW 11 116106092 missense probably damaging 1.00
R5097:Trim47 UTSW 11 116106434 missense probably benign 0.38
R5148:Trim47 UTSW 11 116107852 missense possibly damaging 0.89
R7585:Trim47 UTSW 11 116107557 missense probably damaging 1.00
Posted On2015-04-16