Incidental Mutation 'IGL03278:Trim38'
ID415480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim38
Ensembl Gene ENSMUSG00000064140
Gene Nametripartite motif-containing 38
SynonymsLOC214158
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03278
Quality Score
Status
Chromosome13
Chromosomal Location23769913-23791528 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23790996 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 306 (D306G)
Ref Sequence ENSEMBL: ENSMUSP00000153240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074067] [ENSMUST00000223911] [ENSMUST00000226039]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074067
AA Change: D306G

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073709
Gene: ENSMUSG00000064140
AA Change: D306G

DomainStartEndE-ValueType
RING 16 61 8.95e-7 SMART
BBOX 90 131 4.34e-5 SMART
coiled coil region 202 249 N/A INTRINSIC
PRY 293 347 2.31e-9 SMART
SPRY 348 469 6.71e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144770
Predicted Effect probably benign
Transcript: ENSMUST00000223911
Predicted Effect possibly damaging
Transcript: ENSMUST00000226039
AA Change: D306G

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
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) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased poly(I:C) and LPS-induced IFN-beta, TNFalpha and IL6 with increased induced mortality induced by poly(I:C), LPS or S. typhimurium infection, [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in Trim38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Trim38 APN 13 23791032 missense possibly damaging 0.91
IGL01592:Trim38 APN 13 23791427 missense possibly damaging 0.85
IGL02339:Trim38 APN 13 23788230 missense probably damaging 1.00
IGL03062:Trim38 APN 13 23782963 missense probably damaging 1.00
R0630:Trim38 UTSW 13 23791132 nonsense probably null
R1263:Trim38 UTSW 13 23791134 missense probably damaging 1.00
R1560:Trim38 UTSW 13 23782702 missense probably benign 0.02
R1978:Trim38 UTSW 13 23791098 missense probably damaging 1.00
R4407:Trim38 UTSW 13 23791491 missense probably benign 0.04
R4462:Trim38 UTSW 13 23791452 missense probably null 1.00
R4649:Trim38 UTSW 13 23782969 missense probably damaging 1.00
R4651:Trim38 UTSW 13 23782969 missense probably damaging 1.00
R4653:Trim38 UTSW 13 23782969 missense probably damaging 1.00
R4816:Trim38 UTSW 13 23788281 missense probably damaging 1.00
R4970:Trim38 UTSW 13 23791329 missense probably damaging 0.98
R5946:Trim38 UTSW 13 23782734 missense probably benign 0.04
R6538:Trim38 UTSW 13 23785949 missense probably damaging 0.97
R6974:Trim38 UTSW 13 23789519 missense probably benign 0.05
R7227:Trim38 UTSW 13 23785963 missense possibly damaging 0.88
R7319:Trim38 UTSW 13 23791401 missense probably damaging 1.00
R7425:Trim38 UTSW 13 23788382 missense probably benign 0.02
Posted On2016-08-02