Incidental Mutation 'IGL02493:Trim6'
ID295730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim6
Ensembl Gene ENSMUSG00000072244
Gene Nametripartite motif-containing 6
SynonymsC430046K18Rik, D7Ertd684e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.194) question?
Stock #IGL02493
Quality Score
Status
Chromosome7
Chromosomal Location104218793-104235152 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104232640 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 366 (Y366C)
Ref Sequence ENSEMBL: ENSMUSP00000149805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098180] [ENSMUST00000214578]
Predicted Effect probably benign
Transcript: ENSMUST00000098180
AA Change: Y392C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000095782
Gene: ENSMUSG00000072244
AA Change: Y392C

DomainStartEndE-ValueType
RING 15 59 8.16e-10 SMART
BBOX 92 133 8.87e-11 SMART
low complexity region 194 211 N/A INTRINSIC
PRY 300 351 5.31e-9 SMART
Pfam:SPRY 354 482 9.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144538
Predicted Effect probably benign
Transcript: ENSMUST00000214578
AA Change: Y366C

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 60,016,463 S43R probably benign Het
Afap1l1 G T 18: 61,737,523 Q595K possibly damaging Het
Alpk2 T C 18: 65,350,331 E202G probably benign Het
Ap3b1 T C 13: 94,404,020 V150A probably damaging Het
BC037034 T C 5: 138,263,170 probably null Het
Bcas3 T C 11: 85,495,882 I381T probably damaging Het
Best3 A T 10: 117,024,601 R589W possibly damaging Het
Birc6 A G 17: 74,652,059 probably benign Het
Clcn4 A C 7: 7,284,244 D728E probably damaging Het
Commd2 C A 3: 57,651,659 probably benign Het
Csrp1 T A 1: 135,751,063 F175L probably damaging Het
Eif3c A T 7: 126,558,901 N294K probably damaging Het
Fam184a A G 10: 53,694,693 probably null Het
Fndc1 G T 17: 7,775,545 P297Q unknown Het
Galnt13 A G 2: 54,880,137 I314V probably benign Het
Gimap6 T A 6: 48,702,669 K144N probably damaging Het
Gm10188 A T 1: 132,229,405 C74* probably null Het
Gpatch2 C T 1: 187,233,128 probably benign Het
Hace1 T A 10: 45,588,419 M39K probably damaging Het
Has2 G T 15: 56,667,924 T465K probably damaging Het
Homer3 T A 8: 70,290,071 V144D probably benign Het
Ift140 A T 17: 25,087,924 K878* probably null Het
Ikbip A G 10: 91,096,594 N367D probably damaging Het
Immt T C 6: 71,844,716 probably benign Het
Isca1 A G 13: 59,762,782 V32A possibly damaging Het
Kcnu1 T A 8: 25,937,520 N288K possibly damaging Het
Kmt2b C T 7: 30,569,511 probably benign Het
Lrguk T A 6: 34,129,192 D717E probably benign Het
Lrp1 C T 10: 127,581,778 G1037E probably damaging Het
Man2a2 T A 7: 80,369,615 Q37L possibly damaging Het
Msh4 C T 3: 153,877,908 probably null Het
Mtf1 C T 4: 124,821,319 R246W probably damaging Het
Mvb12b A G 2: 33,840,209 S57P probably benign Het
Nat8f5 A G 6: 85,817,562 F139L probably benign Het
Npepps A G 11: 97,238,159 F400L probably damaging Het
Ntsr2 T A 12: 16,658,389 S248T possibly damaging Het
Olfr1450 T C 19: 12,953,774 F62L probably benign Het
Olfr480 A T 7: 108,065,805 M331K possibly damaging Het
Oplah G A 15: 76,300,955 R853* probably null Het
Plekhh2 G A 17: 84,606,963 probably null Het
Pskh1 G A 8: 105,929,756 V355I probably benign Het
Rab31 A T 17: 65,717,552 M44K possibly damaging Het
Slc5a4b A G 10: 76,075,015 V329A probably damaging Het
Slc5a7 A G 17: 54,293,880 Y76H probably damaging Het
Treh A T 9: 44,682,949 D164V possibly damaging Het
Ubr7 T C 12: 102,768,220 V251A probably benign Het
Vmn1r35 T A 6: 66,679,479 N69I possibly damaging Het
Zan A G 5: 137,435,706 L2255P unknown Het
Other mutations in Trim6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00828:Trim6 APN 7 104230743 missense probably benign 0.00
IGL02517:Trim6 APN 7 104232357 splice site probably benign
R0026:Trim6 UTSW 7 104225809 synonymous probably null
R1505:Trim6 UTSW 7 104232564 missense probably damaging 1.00
R1711:Trim6 UTSW 7 104232837 missense probably damaging 1.00
R2507:Trim6 UTSW 7 104228185 missense probably damaging 1.00
R3919:Trim6 UTSW 7 104232850 missense probably damaging 1.00
R4731:Trim6 UTSW 7 104232648 missense probably damaging 1.00
R4732:Trim6 UTSW 7 104232648 missense probably damaging 1.00
R4733:Trim6 UTSW 7 104232648 missense probably damaging 1.00
R4858:Trim6 UTSW 7 104232485 nonsense probably null
R5120:Trim6 UTSW 7 104228240 missense probably damaging 1.00
R7147:Trim6 UTSW 7 104225570 missense probably benign 0.00
R7372:Trim6 UTSW 7 104232636 missense probably benign 0.04
R7407:Trim6 UTSW 7 104225901 missense probably damaging 1.00
R7526:Trim6 UTSW 7 104232832 missense probably damaging 1.00
Posted On2015-04-16