Incidental Mutation 'IGL01085:Trim40'
ID 53032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim40
Ensembl Gene ENSMUSG00000073399
Gene Name tripartite motif-containing 40
Synonyms LOC240093, LOC333872, LOC195359
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01085
Quality Score
Status
Chromosome 17
Chromosomal Location 37192490-37201015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37194133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 187 (I187V)
Ref Sequence ENSEMBL: ENSMUSP00000084400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087158] [ENSMUST00000172711]
AlphaFold Q3UWA4
Predicted Effect probably benign
Transcript: ENSMUST00000087158
AA Change: I187V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399
AA Change: I187V

DomainStartEndE-ValueType
RING 12 54 6e-8 SMART
Pfam:zf-B_box 65 105 1.1e-6 PFAM
coiled coil region 106 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172711
SMART Domains Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399

DomainStartEndE-ValueType
RING 12 54 6e-8 SMART
Pfam:zf-B_box 65 105 3.4e-7 PFAM
coiled coil region 106 150 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174107
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 (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,944,763 (GRCm39) probably benign Het
Acp7 T C 7: 28,310,478 (GRCm39) Y453C probably damaging Het
Bop1 T C 15: 76,337,576 (GRCm39) D683G probably damaging Het
Cacna1b G T 2: 24,569,006 (GRCm39) R974S probably damaging Het
Ceacam23 A T 7: 17,649,616 (GRCm39) H729L possibly damaging Het
Cenpt T C 8: 106,573,297 (GRCm39) E350G possibly damaging Het
Cep112 G T 11: 108,377,432 (GRCm39) R270L probably damaging Het
Crem T C 18: 3,299,236 (GRCm39) T26A probably damaging Het
Crot T C 5: 9,023,955 (GRCm39) H387R probably damaging Het
Fdxr A T 11: 115,160,402 (GRCm39) V351E probably benign Het
Fkbpl T C 17: 34,864,718 (GRCm39) L162P probably damaging Het
Fmn2 T A 1: 174,523,220 (GRCm39) N1358K probably damaging Het
Hectd4 G T 5: 121,469,764 (GRCm39) G2553V probably damaging Het
Ifna16 A T 4: 88,594,969 (GRCm39) I42K probably benign Het
Igfals C T 17: 25,100,634 (GRCm39) T575I probably benign Het
Il6 G T 5: 30,218,487 (GRCm39) V28F probably damaging Het
Irx1 A G 13: 72,107,816 (GRCm39) S289P probably benign Het
Ncoa2 T C 1: 13,219,303 (GRCm39) T1245A possibly damaging Het
Nr3c2 G T 8: 77,634,983 (GRCm39) R28L probably benign Het
Nudt5 G A 2: 5,869,238 (GRCm39) V155I probably benign Het
Or9s13 G T 1: 92,547,921 (GRCm39) V98F possibly damaging Het
Pcm1 T C 8: 41,762,640 (GRCm39) S1395P probably damaging Het
Pkhd1l1 G A 15: 44,426,148 (GRCm39) probably null Het
Prodh A T 16: 17,894,208 (GRCm39) V339E probably damaging Het
Rbm48 C T 5: 3,634,762 (GRCm39) V401M probably benign Het
Retreg3 G A 11: 100,991,751 (GRCm39) Q61* probably null Het
Rif1 A G 2: 51,975,152 (GRCm39) M354V possibly damaging Het
Rrn3 G A 16: 13,626,926 (GRCm39) V507M probably damaging Het
Safb2 T A 17: 56,872,242 (GRCm39) R197* probably null Het
Slc22a26 A G 19: 7,767,464 (GRCm39) V314A probably benign Het
Slfnl1 G T 4: 120,390,553 (GRCm39) R68L probably damaging Het
Spata1 G T 3: 146,181,997 (GRCm39) Q10K possibly damaging Het
Swi5 T C 2: 32,170,739 (GRCm39) M95V possibly damaging Het
Thpo T C 16: 20,547,205 (GRCm39) D52G probably damaging Het
Tmem101 A T 11: 102,045,486 (GRCm39) L121Q probably damaging Het
Usp33 A G 3: 152,074,206 (GRCm39) K351E possibly damaging Het
Uvrag T C 7: 98,767,431 (GRCm39) T67A probably damaging Het
Vcan T C 13: 89,828,077 (GRCm39) D2163G probably damaging Het
Wnt7a C T 6: 91,385,771 (GRCm39) V61I probably benign Het
Zfp804b A G 5: 6,820,931 (GRCm39) S675P probably damaging Het
Other mutations in Trim40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Trim40 APN 17 37,193,289 (GRCm39) makesense probably null
IGL02071:Trim40 APN 17 37,200,070 (GRCm39) missense probably benign
IGL02343:Trim40 APN 17 37,200,030 (GRCm39) missense probably benign 0.03
R0116:Trim40 UTSW 17 37,194,039 (GRCm39) critical splice donor site probably null
R1853:Trim40 UTSW 17 37,199,970 (GRCm39) missense probably damaging 1.00
R2216:Trim40 UTSW 17 37,199,875 (GRCm39) missense probably benign 0.10
R4649:Trim40 UTSW 17 37,193,531 (GRCm39) splice site probably null
R4903:Trim40 UTSW 17 37,194,117 (GRCm39) missense possibly damaging 0.95
R5384:Trim40 UTSW 17 37,199,757 (GRCm39) missense probably damaging 0.99
R5680:Trim40 UTSW 17 37,199,874 (GRCm39) missense probably damaging 0.99
R5969:Trim40 UTSW 17 37,193,319 (GRCm39) missense probably benign
R6830:Trim40 UTSW 17 37,199,742 (GRCm39) missense possibly damaging 0.89
R7008:Trim40 UTSW 17 37,194,868 (GRCm39) missense probably damaging 1.00
R7112:Trim40 UTSW 17 37,193,534 (GRCm39) missense probably null 1.00
R7283:Trim40 UTSW 17 37,193,554 (GRCm39) missense probably benign 0.05
R8288:Trim40 UTSW 17 37,194,210 (GRCm39) missense probably benign 0.01
R9742:Trim40 UTSW 17 37,199,902 (GRCm39) missense possibly damaging 0.77
Posted On 2013-06-21