Incidental Mutation 'IGL00952:Trim40'
ID 29305
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 # IGL00952
Quality Score
Status
Chromosome 17
Chromosomal Location 36881598-36890123 bp(-) (GRCm38)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 36882397 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 213 (*213W)
Ref Sequence ENSEMBL: ENSMUSP00000133581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060524] [ENSMUST00000087158] [ENSMUST00000172711]
AlphaFold Q3UWA4
Predicted Effect probably benign
Transcript: ENSMUST00000060524
SMART Domains Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400

DomainStartEndE-ValueType
RING 16 60 1.2e-7 SMART
BBOX 94 135 5.38e-10 SMART
coiled coil region 152 175 N/A INTRINSIC
low complexity region 187 207 N/A INTRINSIC
PRY 309 361 1.04e-25 SMART
SPRY 362 485 1.51e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000087158
AA Change: *247W
SMART Domains Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399
AA Change: *247W

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 null
Transcript: ENSMUST00000172711
AA Change: *213W
SMART Domains Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399
AA Change: *213W

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,964,799 I4S probably benign Het
Abca8b A G 11: 109,969,060 probably null Het
Aftph A T 11: 20,727,483 V42E probably damaging Het
AI467606 A G 7: 127,092,702 S150G probably damaging Het
Art4 T C 6: 136,854,820 N108D possibly damaging Het
B9d1 G A 11: 61,512,678 V167I possibly damaging Het
Ccdc47 A T 11: 106,203,532 probably null Het
Ccdc96 T A 5: 36,485,080 probably benign Het
Cfap44 A G 16: 44,421,275 I670V probably benign Het
Col18a1 T G 10: 77,069,979 K909Q possibly damaging Het
Col8a2 A G 4: 126,309,791 Y59C probably damaging Het
Coro6 A T 11: 77,468,465 D288V probably damaging Het
Cul4a C T 8: 13,146,562 L739F probably damaging Het
Dmxl2 C T 9: 54,416,882 V1073I probably damaging Het
Dnah11 T C 12: 118,196,651 T115A possibly damaging Het
Fdx1l A G 9: 21,073,262 probably null Het
Flnc C T 6: 29,459,547 Q2549* probably null Het
Foxn2 T C 17: 88,475,880 C188R probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilf3 T C 9: 21,396,051 L343P probably damaging Het
Itgb2l C T 16: 96,426,750 G518S probably damaging Het
Itpr2 T A 6: 146,158,961 I2486F probably damaging Het
Kat2a A G 11: 100,706,151 V681A probably damaging Het
Kif17 A G 4: 138,262,708 N69S possibly damaging Het
Kif26b G A 1: 178,932,205 D2106N probably damaging Het
Klf6 A G 13: 5,861,681 T15A probably benign Het
Lyst A G 13: 13,678,107 T2231A probably benign Het
Mark4 T C 7: 19,431,824 T515A possibly damaging Het
Mast3 A T 8: 70,780,683 probably benign Het
Nalcn T C 14: 123,348,789 K722R probably benign Het
Ncf2 G A 1: 152,836,106 E524K probably benign Het
Olfr1135 A T 2: 87,671,815 I184N probably damaging Het
Olfr510 A G 7: 108,668,238 N274S possibly damaging Het
Olfr681 A G 7: 105,122,407 probably null Het
Olfr895 A T 9: 38,268,505 probably benign Het
Plcg2 A T 8: 117,607,217 M910L probably benign Het
Pramef17 T C 4: 143,993,324 H157R probably benign Het
Rai1 A T 11: 60,187,992 K961* probably null Het
Rsph14 T C 10: 75,029,769 D112G probably benign Het
Sgo1 T A 17: 53,687,247 D59V probably damaging Het
Slc22a29 A T 19: 8,217,857 V138E probably damaging Het
Slc9a1 T A 4: 133,416,382 V393D probably damaging Het
Smg6 A G 11: 74,929,148 R82G probably benign Het
Sppl3 T C 5: 115,074,876 S55P probably benign Het
Srsf12 A C 4: 33,226,103 Q122P possibly damaging Het
Tas1r2 T C 4: 139,655,252 M67T probably benign Het
Thnsl1 G A 2: 21,211,956 V174I possibly damaging Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Tnxb T G 17: 34,713,128 Y2212D probably damaging Het
Ttc16 T C 2: 32,770,247 D183G probably damaging Het
Other mutations in Trim40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Trim40 APN 17 36883241 missense probably benign 0.01
IGL02071:Trim40 APN 17 36889178 missense probably benign
IGL02343:Trim40 APN 17 36889138 missense probably benign 0.03
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 2013-04-17