Incidental Mutation 'IGL02339:Trim38'
ID 289001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim38
Ensembl Gene ENSMUSG00000064140
Gene Name tripartite motif-containing 38
Synonyms LOC214158
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02339
Quality Score
Status
Chromosome 13
Chromosomal Location 23769913-23791528 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23788230 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 178 (R178Q)
Ref Sequence ENSEMBL: ENSMUSP00000153540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074067] [ENSMUST00000223911] [ENSMUST00000226039]
AlphaFold Q5SZ99
Predicted Effect probably damaging
Transcript: ENSMUST00000074067
AA Change: R178Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000073709
Gene: ENSMUSG00000064140
AA Change: R178Q

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 probably damaging
Transcript: ENSMUST00000223911
AA Change: R178Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000226039
AA Change: R178Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,739,465 S546P probably damaging Het
Aass C A 6: 23,093,966 V119F probably damaging Het
Abcg5 T C 17: 84,673,604 I186V possibly damaging Het
B4gat1 G A 19: 5,039,418 E148K probably benign Het
Ccr6 A T 17: 8,256,253 T97S probably benign Het
Cd209f A C 8: 4,104,483 probably null Het
Chst1 T A 2: 92,613,577 D131E possibly damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah6 A G 6: 73,101,898 Y2361H probably benign Het
Dpp6 C T 5: 27,652,230 T333I probably damaging Het
Glt8d1 C A 14: 31,008,810 T91K probably damaging Het
Gm4952 G A 19: 12,626,911 R229Q probably damaging Het
Gm5117 T C 8: 31,738,226 noncoding transcript Het
Gp5 T C 16: 30,309,190 E222G probably damaging Het
Herc2 T A 7: 56,121,722 D1077E probably benign Het
Hfe T C 13: 23,704,390 E171G probably damaging Het
Hsp90b1 A G 10: 86,701,814 V209A probably damaging Het
Ktn1 A T 14: 47,683,378 probably benign Het
Med13 T C 11: 86,288,939 I1394M probably benign Het
Meioc T G 11: 102,668,448 S65R probably benign Het
Myof T C 19: 37,972,213 Y460C possibly damaging Het
Olfr1276 A T 2: 111,257,243 T43S probably benign Het
Pms1 A G 1: 53,275,165 Y74H possibly damaging Het
Ptprn2 A C 12: 116,722,104 Q61P probably damaging Het
Rab29 A G 1: 131,872,142 T152A probably benign Het
Rest A G 5: 77,275,288 H313R probably damaging Het
Slc9a5 T C 8: 105,358,459 Y531H probably damaging Het
St3gal3 T C 4: 117,958,562 T148A probably damaging Het
Stxbp5 C T 10: 9,816,297 V368I possibly damaging Het
Taf1c T C 8: 119,604,280 D33G probably damaging Het
Uvssa A T 5: 33,414,849 K704N probably damaging Het
Vmn1r69 G A 7: 10,580,718 Q29* probably null Het
Ypel2 T C 11: 86,940,603 D119G possibly damaging 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
IGL03062:Trim38 APN 13 23782963 missense probably damaging 1.00
IGL03278:Trim38 APN 13 23790996 missense possibly damaging 0.65
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
R8243:Trim38 UTSW 13 23791395 missense probably damaging 1.00
R8965:Trim38 UTSW 13 23791023 missense possibly damaging 0.65
R9354:Trim38 UTSW 13 23785892 missense probably benign 0.09
R9573:Trim38 UTSW 13 23782705 missense probably benign 0.01
Posted On 2015-04-16