Incidental Mutation 'IGL02071:Trim40'
ID 185830
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 # IGL02071
Quality Score
Status
Chromosome 17
Chromosomal Location 37192490-37201015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37200070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 3 (S3P)
Ref Sequence ENSEMBL: ENSMUSP00000133581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087158] [ENSMUST00000172711]
AlphaFold Q3UWA4
Predicted Effect probably benign
Transcript: ENSMUST00000087158
AA Change: S3P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399
AA Change: S3P

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 noncoding transcript
Transcript: ENSMUST00000172640
Predicted Effect probably benign
Transcript: ENSMUST00000172711
AA Change: S3P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399
AA Change: S3P

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,400,676 (GRCm39) R92C probably damaging Het
Adam29 C A 8: 56,324,589 (GRCm39) V622L possibly damaging Het
Bzw2 T C 12: 36,157,502 (GRCm39) H321R probably benign Het
C2cd2 C T 16: 97,671,432 (GRCm39) R489Q probably damaging Het
Cdh23 G A 10: 60,359,339 (GRCm39) T253I possibly damaging Het
Col4a3 T G 1: 82,638,608 (GRCm39) probably null Het
D630039A03Rik T C 4: 57,910,309 (GRCm39) T168A possibly damaging Het
Dnajc19 A G 3: 34,132,914 (GRCm39) L97P possibly damaging Het
Dpep2 A T 8: 106,711,776 (GRCm39) H550Q probably benign Het
Dvl2 C A 11: 69,895,626 (GRCm39) probably null Het
Fam234b A G 6: 135,204,149 (GRCm39) probably null Het
Fxyd5 A G 7: 30,739,613 (GRCm39) V32A possibly damaging Het
Itprid1 C A 6: 55,944,710 (GRCm39) S477* probably null Het
Mak16 A T 8: 31,650,557 (GRCm39) S251T probably benign Het
Med10 T C 13: 69,963,747 (GRCm39) V116A probably benign Het
Mycbp2 G A 14: 103,392,343 (GRCm39) R50* probably null Het
Nckap5 G A 1: 125,909,305 (GRCm39) P272L probably damaging Het
Nf1 T A 11: 79,334,947 (GRCm39) V933E possibly damaging Het
Nrxn2 T A 19: 6,531,783 (GRCm39) V749E probably damaging Het
Or51e2 A C 7: 102,391,355 (GRCm39) V285G probably damaging Het
Or5al1 C A 2: 85,990,219 (GRCm39) R165L probably benign Het
Osbpl9 T C 4: 108,929,176 (GRCm39) Y417C probably damaging Het
Otop1 G A 5: 38,445,327 (GRCm39) A162T probably damaging Het
Patl1 C A 19: 11,917,054 (GRCm39) P634T probably damaging Het
Ppl A T 16: 4,930,936 (GRCm39) S28T probably benign Het
Prkar2b C T 12: 32,013,016 (GRCm39) G367R probably damaging Het
Rbl2 G A 8: 91,828,826 (GRCm39) V576I probably damaging Het
Rgl3 C T 9: 21,899,559 (GRCm39) A53T probably benign Het
Rp1 T A 1: 4,415,533 (GRCm39) I1860F possibly damaging Het
Sbno2 A T 10: 79,896,475 (GRCm39) D877E probably damaging Het
Sectm1b C T 11: 120,946,761 (GRCm39) V45I probably damaging Het
Sfmbt2 G A 2: 10,582,763 (GRCm39) V741I probably benign Het
Sugt1 T A 14: 79,847,723 (GRCm39) L191* probably null Het
Tcf21 A T 10: 22,693,709 (GRCm39) V156E possibly damaging Het
Tep1 T A 14: 51,071,506 (GRCm39) R2046S possibly damaging Het
Tmem181a T C 17: 6,347,531 (GRCm39) F241S probably damaging Het
Traf6 G A 2: 101,527,138 (GRCm39) C296Y probably benign Het
Ttll2 A T 17: 7,619,130 (GRCm39) Y266N probably damaging Het
Vps54 A G 11: 21,225,071 (GRCm39) N177S probably null Het
Other mutations in Trim40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Trim40 APN 17 37,193,289 (GRCm39) makesense probably null
IGL01085:Trim40 APN 17 37,194,133 (GRCm39) missense probably benign 0.01
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 2014-05-07