Incidental Mutation 'R0946:Trim37'
ID 82118
Institutional Source Beutler Lab
Gene Symbol Trim37
Ensembl Gene ENSMUSG00000018548
Gene Name tripartite motif-containing 37
Synonyms MUL, TEF3, 1110032A10Rik, 2810004E07Rik
MMRRC Submission 039085-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0946 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 87017903-87111509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87037781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 172 (R172G)
Ref Sequence ENSEMBL: ENSMUSP00000049057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041282] [ENSMUST00000139532]
AlphaFold Q6PCX9
Predicted Effect probably damaging
Transcript: ENSMUST00000041282
AA Change: R172G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: R172G

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
Predicted Effect probably damaging
Transcript: ENSMUST00000139532
AA Change: R157G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119269
Gene: ENSMUSG00000018548
AA Change: R157G

DomainStartEndE-ValueType
BBOX 75 117 7.32e-12 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik A G 14: 34,234,099 (GRCm39) M64T unknown Het
Adamts15 C T 9: 30,813,493 (GRCm39) G891R probably damaging Het
Adck5 G A 15: 76,477,486 (GRCm39) V107I possibly damaging Het
Aoc3 G A 11: 101,223,131 (GRCm39) V456M possibly damaging Het
Apbb1 A T 7: 105,223,062 (GRCm39) L183Q probably benign Het
Camsap3 A G 8: 3,654,442 (GRCm39) H693R probably benign Het
Ccdc88a A G 11: 29,406,509 (GRCm39) T414A probably benign Het
Cdh17 T C 4: 11,795,581 (GRCm39) V387A probably benign Het
Coasy G T 11: 100,976,696 (GRCm39) V489F probably damaging Het
Ercc6 A T 14: 32,274,578 (GRCm39) M574L probably benign Het
Esrrb T C 12: 86,552,598 (GRCm39) L180P probably damaging Het
Fam83b A T 9: 76,398,679 (GRCm39) V808D probably damaging Het
Fat3 C T 9: 15,909,100 (GRCm39) V2301I possibly damaging Het
Ftdc1 C A 16: 58,435,075 (GRCm39) R83S probably damaging Het
Hyal4 T A 6: 24,755,912 (GRCm39) Y43* probably null Het
Hydin C A 8: 111,257,685 (GRCm39) L2372M probably benign Het
Lrrc4c T C 2: 97,459,809 (GRCm39) V145A probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Muc21 A C 17: 35,929,105 (GRCm39) S1581A probably benign Het
Myh4 A G 11: 67,142,577 (GRCm39) I913V possibly damaging Het
Nat10 C T 2: 103,561,719 (GRCm39) G654D probably damaging Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Nup50l A T 6: 96,142,677 (GRCm39) N122K possibly damaging Het
Oas3 T C 5: 120,907,128 (GRCm39) Y503C unknown Het
Or11g7 C A 14: 50,691,130 (GRCm39) T207K probably benign Het
Pappa G T 4: 65,233,029 (GRCm39) probably null Het
Pfas A G 11: 68,884,121 (GRCm39) probably null Het
Pfas G T 11: 68,881,573 (GRCm39) probably null Het
Pign A T 1: 105,519,422 (GRCm39) M500K probably benign Het
Pkhd1 T C 1: 20,269,605 (GRCm39) K3313R probably benign Het
Ptk2b A G 14: 66,396,047 (GRCm39) V807A probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Rfpl4b A T 10: 38,696,833 (GRCm39) I256N probably benign Het
Skap1 C G 11: 96,432,295 (GRCm39) S88* probably null Het
Slc4a2 T C 5: 24,640,884 (GRCm39) S742P probably damaging Het
Supv3l1 T C 10: 62,265,599 (GRCm39) D647G probably damaging Het
Tmem184c A C 8: 78,331,386 (GRCm39) V121G probably damaging Het
Tonsl T C 15: 76,507,421 (GRCm39) I118V probably benign Het
Top1 T A 2: 160,554,588 (GRCm39) Y446* probably null Het
Vgll4 C A 6: 114,867,768 (GRCm39) probably null Het
Vgll4 T A 6: 114,867,769 (GRCm39) probably null Het
Vmn1r5 T G 6: 56,963,150 (GRCm39) I275S possibly damaging Het
Vwde A T 6: 13,187,874 (GRCm39) H584Q probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp282 T A 6: 47,856,943 (GRCm39) W59R probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zswim2 T A 2: 83,754,103 (GRCm39) T186S 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
IGL02251:Trim37 APN 11 87,058,256 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GGCTTGTGCTATCAGTGAGTGAACTATT -3'
(R):5'- AGCCAGACTTGTGGTCAGATTAAACAAC -3'

Sequencing Primer
(F):5'- tggcaaacatctttcaccttac -3'
(R):5'- TGTGGTCAGATTAAACAACATAGAG -3'
Posted On 2013-11-08