Incidental Mutation 'IGL02948:Trim80'
ID364847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim80
Ensembl Gene ENSMUSG00000070332
Gene Nametripartite motif-containing 80
Synonyms4933422H20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02948
Quality Score
Status
Chromosome11
Chromosomal Location115440545-115448270 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115441593 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 204 (W204R)
Ref Sequence ENSEMBL: ENSMUSP00000091442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093914]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093914
AA Change: W204R

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: W204R

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
RING 71 114 4.48e-7 SMART
Blast:BBOX 154 202 7e-22 BLAST
Pfam:zf-B_box 207 246 2.2e-10 PFAM
Blast:PRY 441 496 2e-18 BLAST
Pfam:SPRY 499 621 3.9e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,319 probably benign Het
Ano3 A T 2: 110,697,018 probably benign Het
Arpp21 T C 9: 112,176,200 Y193C probably damaging Het
Atm G A 9: 53,453,440 probably benign Het
Ceacam13 C T 7: 18,011,063 probably benign Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Clec7a A C 6: 129,465,478 D195E possibly damaging Het
Cnksr1 T C 4: 134,235,106 probably null Het
Cntn1 A G 15: 92,246,010 T285A probably benign Het
Dusp4 G T 8: 34,818,572 G329V probably damaging Het
Emb C A 13: 117,273,066 probably benign Het
Esyt1 A T 10: 128,519,171 S496T probably damaging Het
Evpl T C 11: 116,221,822 T1681A probably damaging Het
Fam131b A C 6: 42,320,992 probably benign Het
Fam162b T C 10: 51,587,296 M92V probably damaging Het
Fbxw2 T C 2: 34,805,711 *455W probably null Het
Gm12886 A G 4: 121,423,037 L14P unknown Het
Gpc4 A T X: 52,074,301 V235E probably damaging Het
Gss A G 2: 155,577,621 L170P probably damaging Het
Hbs1l C T 10: 21,341,711 probably benign Het
Hhatl T C 9: 121,789,791 M92V probably benign Het
Hhla1 A T 15: 65,942,693 L194H probably damaging Het
Hivep2 C A 10: 14,129,013 R452S probably benign Het
Homer2 C A 7: 81,649,645 W24L probably damaging Het
Lhcgr A T 17: 88,742,622 L492H probably damaging Het
Lrba C A 3: 86,310,384 probably null Het
Lrp2 G T 2: 69,487,837 P2090Q probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Madd T A 2: 91,142,827 M1497L probably benign Het
Naprt C T 15: 75,892,357 R336Q probably damaging Het
Nars A G 18: 64,505,195 C266R possibly damaging Het
Olfr1420 T A 19: 11,896,781 Y253* probably null Het
Olfr175-ps1 T A 16: 58,824,088 Q207L probably benign Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pstpip2 A G 18: 77,854,807 N86S probably benign Het
Ptgfrn T C 3: 101,072,819 T402A probably benign Het
Rnf130 T C 11: 50,052,771 probably benign Het
Ropn1l T C 15: 31,451,179 D53G possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Rtn2 T C 7: 19,293,111 S17P probably damaging Het
Shank2 T C 7: 144,409,636 V327A probably benign Het
Slc22a16 T G 10: 40,573,962 Y131* probably null Het
Slc28a2 T A 2: 122,457,977 M583K possibly damaging Het
Slco1a6 G T 6: 142,133,235 probably null Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Strip1 T C 3: 107,613,266 R823G probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tmem104 G T 11: 115,197,296 A36S probably damaging Het
Trim55 T A 3: 19,670,952 L211Q probably damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Unc13a C T 8: 71,650,549 R931H possibly damaging Het
Utp4 T A 8: 106,894,641 S17T probably benign Het
Other mutations in Trim80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Trim80 APN 11 115447665 missense probably benign 0.21
IGL00921:Trim80 APN 11 115447664 missense probably benign 0.00
IGL03037:Trim80 APN 11 115441593 missense possibly damaging 0.81
R0019:Trim80 UTSW 11 115447942 missense probably damaging 1.00
R0019:Trim80 UTSW 11 115447942 missense probably damaging 1.00
R0409:Trim80 UTSW 11 115441213 missense probably damaging 1.00
R1069:Trim80 UTSW 11 115448083 missense probably damaging 1.00
R1832:Trim80 UTSW 11 115446793 missense probably benign
R1952:Trim80 UTSW 11 115441329 nonsense probably null
R2892:Trim80 UTSW 11 115448023 missense possibly damaging 0.81
R4301:Trim80 UTSW 11 115445113 critical splice donor site probably null
R4748:Trim80 UTSW 11 115448138 missense possibly damaging 0.84
R4795:Trim80 UTSW 11 115447943 missense probably damaging 1.00
R4819:Trim80 UTSW 11 115447943 missense probably damaging 1.00
R4910:Trim80 UTSW 11 115446455 missense probably damaging 0.99
R5245:Trim80 UTSW 11 115441572 missense probably damaging 1.00
R5288:Trim80 UTSW 11 115448017 missense probably benign 0.07
R5384:Trim80 UTSW 11 115448017 missense probably benign 0.07
R5386:Trim80 UTSW 11 115448017 missense probably benign 0.07
R5508:Trim80 UTSW 11 115445078 missense probably benign 0.06
R5645:Trim80 UTSW 11 115446785 missense probably damaging 1.00
R5785:Trim80 UTSW 11 115446475 nonsense probably null
R5822:Trim80 UTSW 11 115447921 missense probably damaging 0.99
R6754:Trim80 UTSW 11 115448174 missense probably damaging 1.00
R6785:Trim80 UTSW 11 115441201 missense probably damaging 0.99
R6788:Trim80 UTSW 11 115448017 missense probably benign 0.07
R7336:Trim80 UTSW 11 115441216 missense probably damaging 1.00
Posted On2015-12-18