Incidental Mutation 'IGL01372:Trim37'
ID 76198
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 # IGL01372
Quality Score
Status
Chromosome 11
Chromosomal Location 87017903-87111509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87075772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 459 (H459Q)
Ref Sequence ENSEMBL: ENSMUSP00000049057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041282]
AlphaFold Q6PCX9
Predicted Effect probably benign
Transcript: ENSMUST00000041282
AA Change: H459Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: H459Q

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 noncoding transcript
Transcript: ENSMUST00000152637
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,842,089 (GRCm39) D1049N probably benign Het
Ankdd1a A T 9: 65,411,421 (GRCm39) L362Q probably damaging Het
Ankib1 A T 5: 3,822,594 (GRCm39) N37K probably damaging Het
Ankrd55 T A 13: 112,459,677 (GRCm39) D90E probably damaging Het
Atp1a2 T C 1: 172,106,510 (GRCm39) R831G probably damaging Het
Bcar3 A G 3: 122,316,943 (GRCm39) D638G probably damaging Het
Cabp4 T A 19: 4,189,322 (GRCm39) E78D probably benign Het
Cmtm8 A G 9: 114,619,755 (GRCm39) V130A possibly damaging Het
Cyth3 A G 5: 143,678,393 (GRCm39) T66A possibly damaging Het
Dmbt1 A T 7: 130,705,409 (GRCm39) I1171F possibly damaging Het
Dnah10 G A 5: 124,856,218 (GRCm39) G2060D probably damaging Het
Dnah11 T C 12: 118,156,134 (GRCm39) H172R probably damaging Het
Dnah5 C T 15: 28,230,636 (GRCm39) A178V probably benign Het
Efcab6 T G 15: 83,928,505 (GRCm39) M30L possibly damaging Het
Ehbp1l1 T C 19: 5,765,817 (GRCm39) probably benign Het
Eps15 G A 4: 109,179,303 (GRCm39) E230K probably damaging Het
Fam91a1 A G 15: 58,301,911 (GRCm39) I258M probably damaging Het
Gm5581 G A 6: 131,145,366 (GRCm39) noncoding transcript Het
Hrh1 G A 6: 114,456,958 (GRCm39) V80I probably damaging Het
Ldhd G A 8: 112,355,032 (GRCm39) H290Y probably benign Het
Lepr G A 4: 101,592,774 (GRCm39) E130K possibly damaging Het
Mycbpap T C 11: 94,397,282 (GRCm39) I40V possibly damaging Het
Nrap T A 19: 56,317,534 (GRCm39) probably null Het
Opn5 T A 17: 42,891,435 (GRCm39) probably null Het
Or1j14 T A 2: 36,417,463 (GRCm39) I13N probably benign Het
Or5ac24 A G 16: 59,165,524 (GRCm39) I180T probably damaging Het
Otop3 A T 11: 115,235,930 (GRCm39) T521S possibly damaging Het
Pcsk5 T G 19: 17,595,108 (GRCm39) T409P probably damaging Het
Pde9a T A 17: 31,680,685 (GRCm39) F322Y probably benign Het
Pgm5 T A 19: 24,710,985 (GRCm39) I406F probably damaging Het
Prrc2b T C 2: 32,113,942 (GRCm39) S1998P probably damaging Het
Prune2 T C 19: 17,102,433 (GRCm39) Y2531H probably damaging Het
Ptprk T C 10: 28,445,923 (GRCm39) V932A probably benign Het
Rapgef6 T A 11: 54,559,437 (GRCm39) probably benign Het
Rgsl1 T A 1: 153,701,887 (GRCm39) Y224F probably damaging Het
Rps6kl1 A T 12: 85,193,663 (GRCm39) C143S probably damaging Het
S100a7l2 A G 3: 90,995,616 (GRCm39) probably benign Het
Slc5a5 G A 8: 71,343,020 (GRCm39) probably benign Het
Tfb2m A G 1: 179,369,878 (GRCm39) S182P probably damaging Het
Tmc3 A G 7: 83,261,746 (GRCm39) H608R probably damaging Het
Vmn2r71 A T 7: 85,270,022 (GRCm39) probably benign Het
Xirp2 T C 2: 67,344,334 (GRCm39) S2192P possibly damaging Het
Other mutations in Trim37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Trim37 APN 11 87,077,219 (GRCm39) missense probably damaging 1.00
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
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 2013-10-07