Incidental Mutation 'IGL02343:Trim40'
ID 289198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim40
Ensembl Gene ENSMUSG00000073399
Gene Name tripartite motif-containing 40
Synonyms LOC195359, LOC240093, LOC333872
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02343
Quality Score
Chromosome 17
Chromosomal Location 36881598-36890123 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36889138 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 16 (L16Q)
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: L16Q

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399
AA Change: L16Q

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: L16Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399
AA Change: L16Q

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
5830473C10Rik C A 5: 90,579,614 H364N probably damaging Het
Acbd5 T A 2: 23,087,495 N168K possibly damaging Het
Aig1 T C 10: 13,868,674 M29V probably damaging Het
Apba2 A G 7: 64,695,146 E28G probably damaging Het
Bglap3 T C 3: 88,369,116 N45S possibly damaging Het
Cables2 A G 2: 180,260,279 probably null Het
Cd109 A G 9: 78,688,955 probably benign Het
Cdk1 T C 10: 69,340,501 N259D probably benign Het
Ces1h A G 8: 93,352,026 *563R probably null Het
Cfap46 C T 7: 139,682,509 A115T probably damaging Het
Cry2 A T 2: 92,426,921 V101E possibly damaging Het
Cyp4a31 A G 4: 115,563,829 Y38C probably damaging Het
Dip2a T C 10: 76,319,478 Y130C probably benign Het
Eps8l1 A G 7: 4,472,124 T366A probably benign Het
Esr2 C T 12: 76,145,345 R303H probably benign Het
Fbxo41 T G 6: 85,478,171 L617F possibly damaging Het
Fbxw15 A T 9: 109,552,655 probably benign Het
Lrriq1 T A 10: 103,234,163 probably benign Het
Me1 A T 9: 86,654,641 probably null Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Muc19 T G 15: 91,894,234 noncoding transcript Het
Myo15b A G 11: 115,873,400 probably benign Het
Nav1 A T 1: 135,454,752 L1264* probably null Het
Nhlrc4 T C 17: 25,943,361 *137W probably null Het
Nrxn3 A G 12: 88,795,353 T57A probably damaging Het
Olfr1512 T A 14: 52,372,477 D192V probably damaging Het
Orc2 A T 1: 58,469,666 probably null Het
Rpap2 G A 5: 107,618,181 probably null Het
S100a9 T C 3: 90,695,224 H21R probably damaging Het
Spz1 T A 13: 92,575,546 M141L probably benign Het
Stk40 A G 4: 126,136,902 Y305C probably damaging Het
Stra6l A G 4: 45,869,588 Q218R probably damaging Het
T C A 17: 8,439,900 probably benign Het
Tep1 T C 14: 50,829,247 D2298G probably damaging Het
Tubb4a T C 17: 57,081,538 I163V probably benign Het
Vwc2 T A 11: 11,116,532 C207S probably damaging Het
Zfp407 A G 18: 84,209,724 I1920T possibly damaging Het
Zfp429 T C 13: 67,390,725 E200G probably damaging Het
Zfp451 C T 1: 33,776,493 C792Y probably damaging Het
Other mutations in Trim40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Trim40 APN 17 36882397 makesense probably null
IGL01085:Trim40 APN 17 36883241 missense probably benign 0.01
IGL02071:Trim40 APN 17 36889178 missense probably benign
R0116:Trim40 UTSW 17 36883147 critical splice donor site probably null
R1853:Trim40 UTSW 17 36889078 missense probably damaging 1.00
R2216:Trim40 UTSW 17 36888983 missense probably benign 0.10
R4649:Trim40 UTSW 17 36882639 splice site probably null
R4903:Trim40 UTSW 17 36883225 missense possibly damaging 0.95
R5384:Trim40 UTSW 17 36888865 missense probably damaging 0.99
R5680:Trim40 UTSW 17 36888982 missense probably damaging 0.99
R5969:Trim40 UTSW 17 36882427 missense probably benign
R6830:Trim40 UTSW 17 36888850 missense possibly damaging 0.89
R7008:Trim40 UTSW 17 36883976 missense probably damaging 1.00
R7112:Trim40 UTSW 17 36882642 missense probably null 1.00
R7283:Trim40 UTSW 17 36882662 missense probably benign 0.05
R8288:Trim40 UTSW 17 36883318 missense probably benign 0.01
Posted On 2015-04-16