Incidental Mutation 'IGL02251:Trim37'
ID 286412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim37
Ensembl Gene ENSMUSG00000018548
Gene Name tripartite motif-containing 37
Synonyms MUL, TEF3, 1110032A10Rik, 2810004E07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02251
Quality Score
Status
Chromosome 11
Chromosomal Location 87017903-87111509 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 87058256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000049057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041282]
AlphaFold Q6PCX9
Predicted Effect probably benign
Transcript: ENSMUST00000041282
SMART Domains Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548

DomainStartEndE-ValueType
RING 15 54 1.71e-1 SMART
BBOX 90 132 7.32e-12 SMART
BBC 132 254 3.05e-31 SMART
MATH 281 384 1.51e-13 SMART
low complexity region 494 504 N/A INTRINSIC
low complexity region 516 529 N/A INTRINSIC
low complexity region 535 545 N/A INTRINSIC
low complexity region 579 588 N/A INTRINSIC
low complexity region 612 626 N/A INTRINSIC
low complexity region 795 808 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is part of the tripartite-motif containing family (TRIM), which is typified by the RING, B-box type 1, B-box type 2, and coiled-coil region domains. In mouse this protein is proposed to oligomerize through its coiled coil domain and has been reported to be expressed in neural crest-derived tissues as well as in tissues whose development is regulated by mesenchymal-epithelial interactions. In humans, mutations in this gene are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder characterized by prenatal onset growth failure, cardiomyopathy and dysmorphic features. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are infertile due to gonadal degeneration and exhibit late-onset weight loss, smaller skull size, non-compaction cardiomyopathy, hepatomegaly, fatty liver, altered glucose metabolism, splenomegaly, and increased tumor incidence. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Gene trapped(7)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,840 (GRCm39) C1406R probably damaging Het
Acp2 T A 2: 91,038,678 (GRCm39) probably null Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Arhgef11 C T 3: 87,590,854 (GRCm39) R32C probably damaging Het
Armc6 A T 8: 70,677,870 (GRCm39) L153* probably null Het
Btnl2 G T 17: 34,582,213 (GRCm39) G260* probably null Het
Ccnf A G 17: 24,445,513 (GRCm39) S551P probably benign Het
Cdh19 A G 1: 110,882,382 (GRCm39) S37P probably benign Het
Cntnap3 T A 13: 64,909,850 (GRCm39) T752S probably damaging Het
Crispld1 A G 1: 17,799,064 (GRCm39) M62V probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dner G T 1: 84,361,747 (GRCm39) Q621K probably damaging Het
Dph6 A G 2: 114,366,004 (GRCm39) probably null Het
Dpp3 T G 19: 4,968,343 (GRCm39) H243P probably benign Het
Eif3j2 T A 18: 43,610,431 (GRCm39) K127N probably damaging Het
Esrp1 G A 4: 11,361,202 (GRCm39) R315C probably damaging Het
Gm973 A C 1: 59,621,582 (GRCm39) H574P probably benign Het
Gprasp1 G A X: 134,701,288 (GRCm39) V494I probably benign Het
Hbb-bh1 T A 7: 103,492,017 (GRCm39) K66* probably null Het
Hoxb9 T A 11: 96,165,651 (GRCm39) M240K probably damaging Het
Irf2 T C 8: 47,260,788 (GRCm39) probably null Het
Lgi4 A G 7: 30,766,688 (GRCm39) probably null Het
Mylk3 C T 8: 86,081,805 (GRCm39) V328M probably benign Het
Nf2 T C 11: 4,798,873 (GRCm39) E38G probably null Het
Or4k40 A C 2: 111,250,657 (GRCm39) L213R probably damaging Het
Or51l14 A T 7: 103,100,978 (GRCm39) K145* probably null Het
Pdpk1 A G 17: 24,298,612 (GRCm39) F346L probably damaging Het
Prex1 T C 2: 166,419,806 (GRCm39) Y1120C probably damaging Het
Rab3gap1 A G 1: 127,865,237 (GRCm39) T742A probably benign Het
Scai A T 2: 38,989,429 (GRCm39) D401E probably benign Het
Scd1 T C 19: 44,386,533 (GRCm39) H298R probably damaging Het
Shld2 T C 14: 33,990,235 (GRCm39) R224G probably benign Het
Slc45a1 A G 4: 150,723,176 (GRCm39) probably benign Het
Smim10l1 G T 6: 133,082,471 (GRCm39) R6L probably damaging Het
Spag5 T G 11: 78,210,860 (GRCm39) F921C probably damaging Het
Sun1 T C 5: 139,227,186 (GRCm39) S667P probably damaging Het
Tas2r124 A G 6: 132,732,524 (GRCm39) I278V probably benign Het
Thbs1 G A 2: 117,943,999 (GRCm39) D206N probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn2r103 A G 17: 20,014,231 (GRCm39) N341S possibly damaging Het
Zmat3 A G 3: 32,399,732 (GRCm39) probably benign Het
Other mutations in Trim37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Trim37 APN 11 87,077,219 (GRCm39) missense probably damaging 1.00
IGL01372:Trim37 APN 11 87,075,772 (GRCm39) missense probably benign 0.00
IGL01510:Trim37 APN 11 87,068,686 (GRCm39) missense probably damaging 1.00
IGL02055:Trim37 APN 11 87,057,475 (GRCm39) missense probably benign 0.44
IGL02106:Trim37 APN 11 87,092,230 (GRCm39) nonsense probably null
IGL02498:Trim37 APN 11 87,075,876 (GRCm39) missense probably benign
IGL02836:Trim37 APN 11 87,087,785 (GRCm39) missense probably benign 0.01
IGL03089:Trim37 APN 11 87,080,963 (GRCm39) missense probably damaging 1.00
IGL03302:Trim37 APN 11 87,037,827 (GRCm39) missense possibly damaging 0.89
IGL03347:Trim37 APN 11 87,092,447 (GRCm39) missense possibly damaging 0.80
G5030:Trim37 UTSW 11 87,033,967 (GRCm39) missense probably damaging 0.96
R0396:Trim37 UTSW 11 87,037,794 (GRCm39) missense probably damaging 1.00
R0544:Trim37 UTSW 11 87,036,328 (GRCm39) nonsense probably null
R0946:Trim37 UTSW 11 87,037,781 (GRCm39) missense probably damaging 0.99
R1481:Trim37 UTSW 11 87,020,585 (GRCm39) nonsense probably null
R1799:Trim37 UTSW 11 87,068,845 (GRCm39) missense probably damaging 1.00
R1851:Trim37 UTSW 11 87,109,132 (GRCm39) missense probably damaging 1.00
R2107:Trim37 UTSW 11 87,050,651 (GRCm39) missense probably benign 0.04
R3878:Trim37 UTSW 11 87,096,828 (GRCm39) missense probably benign 0.10
R4049:Trim37 UTSW 11 87,031,429 (GRCm39) critical splice donor site probably null
R4224:Trim37 UTSW 11 87,107,289 (GRCm39) missense probably damaging 1.00
R4486:Trim37 UTSW 11 87,087,651 (GRCm39) missense probably benign 0.31
R5244:Trim37 UTSW 11 87,109,083 (GRCm39) missense probably benign 0.10
R5343:Trim37 UTSW 11 87,028,429 (GRCm39) missense probably damaging 0.98
R5417:Trim37 UTSW 11 87,057,505 (GRCm39) missense probably damaging 1.00
R5894:Trim37 UTSW 11 87,092,266 (GRCm39) missense probably damaging 0.99
R5911:Trim37 UTSW 11 87,087,663 (GRCm39) nonsense probably null
R5957:Trim37 UTSW 11 87,036,377 (GRCm39) missense probably damaging 1.00
R6159:Trim37 UTSW 11 87,107,374 (GRCm39) critical splice donor site probably null
R6479:Trim37 UTSW 11 87,107,313 (GRCm39) nonsense probably null
R6527:Trim37 UTSW 11 87,080,910 (GRCm39) missense probably damaging 1.00
R7021:Trim37 UTSW 11 87,058,335 (GRCm39) missense probably benign 0.01
R7734:Trim37 UTSW 11 87,068,821 (GRCm39) missense probably damaging 1.00
R7849:Trim37 UTSW 11 87,092,270 (GRCm39) missense possibly damaging 0.87
R7938:Trim37 UTSW 11 87,037,863 (GRCm39) missense probably benign 0.05
R7968:Trim37 UTSW 11 87,040,179 (GRCm39) missense possibly damaging 0.47
R8046:Trim37 UTSW 11 87,037,794 (GRCm39) missense possibly damaging 0.89
R8112:Trim37 UTSW 11 87,109,093 (GRCm39) missense possibly damaging 0.80
R8735:Trim37 UTSW 11 87,037,885 (GRCm39) critical splice donor site probably null
R8770:Trim37 UTSW 11 87,050,675 (GRCm39) missense probably damaging 1.00
R8911:Trim37 UTSW 11 87,097,629 (GRCm39) missense possibly damaging 0.89
R9234:Trim37 UTSW 11 87,036,393 (GRCm39) missense possibly damaging 0.95
R9332:Trim37 UTSW 11 87,058,328 (GRCm39) missense possibly damaging 0.94
R9346:Trim37 UTSW 11 87,057,426 (GRCm39) critical splice acceptor site probably null
R9431:Trim37 UTSW 11 87,077,257 (GRCm39) missense probably benign 0.34
Z1177:Trim37 UTSW 11 87,075,869 (GRCm39) missense probably benign
Posted On 2015-04-16