Incidental Mutation 'IGL03302:Trim37'
ID416247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim37
Ensembl Gene ENSMUSG00000018548
Gene Nametripartite motif-containing 37
SynonymsMUL, 1110032A10Rik, 2810004E07Rik, TEF3
Accession Numbers

Genbank: NM_197987

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03302
Quality Score
Status
Chromosome11
Chromosomal Location87127077-87220683 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87147001 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 187 (E187G)
Ref Sequence ENSEMBL: ENSMUSP00000049057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041282] [ENSMUST00000139532]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041282
AA Change: E187G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: E187G

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 benign
Transcript: ENSMUST00000139532
AA Change: E172G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119269
Gene: ENSMUSG00000018548
AA Change: E172G

DomainStartEndE-ValueType
BBOX 75 117 7.32e-12 SMART
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,967,750 Y542F possibly damaging Het
Ankrd34b A T 13: 92,439,643 N461I possibly damaging Het
Ccl24 T C 5: 135,570,878 K93E probably benign Het
Ccr9 T A 9: 123,779,536 D94E probably damaging Het
Cd79a G A 7: 24,899,334 V103M probably damaging Het
Ces1e A G 8: 93,223,893 probably null Het
Cul9 T C 17: 46,526,640 E993G probably damaging Het
Cyp4a14 T C 4: 115,491,378 I330V probably benign Het
Cyp7a1 T C 4: 6,273,801 D35G probably benign Het
Dmpk C A 7: 19,086,486 probably benign Het
Gcnt1 G T 19: 17,329,183 R393S probably benign Het
Lctl C T 9: 64,134,848 probably benign Het
Mttp A T 3: 138,104,707 I664N possibly damaging Het
Myh1 C T 11: 67,211,502 A873V probably benign Het
Nedd9 A G 13: 41,338,854 V54A probably damaging Het
Olfr1306 A T 2: 111,912,822 V36E possibly damaging Het
Olfr401 T G 11: 74,121,633 C115G possibly damaging Het
Olfr449 G T 6: 42,838,003 E41* probably null Het
Pak6 A T 2: 118,693,303 E313V probably benign Het
Pla2g4a A G 1: 149,864,947 S402P probably benign Het
Polq T C 16: 37,071,772 M2012T probably damaging Het
Ppp1r12b A T 1: 134,838,050 probably benign Het
Rbp3 A G 14: 33,954,659 H188R probably damaging Het
Rps6ka2 C A 17: 7,299,388 Q682K possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Spag4 A G 2: 156,068,420 Q322R probably damaging Het
Spef2 T C 15: 9,676,380 T702A probably benign Het
Taf3 G T 2: 9,952,131 F408L probably damaging Het
Tead2 T G 7: 45,232,899 Y121D possibly damaging Het
Thegl T G 5: 77,054,576 S281R probably benign Het
Tmco5 A T 2: 116,892,279 T294S probably damaging Het
Ubb T A 11: 62,552,417 L91Q probably damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Zan T C 5: 137,468,390 S402G possibly damaging Het
Zc3h7a T A 16: 11,141,710 H793L probably damaging Het
Zfhx4 C T 3: 5,403,713 T2977I possibly damaging Het
Other mutations in Trim37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Trim37 APN 11 87186393 missense probably damaging 1.00
IGL01372:Trim37 APN 11 87184946 missense probably benign 0.00
IGL01510:Trim37 APN 11 87177860 missense probably damaging 1.00
IGL02055:Trim37 APN 11 87166649 missense probably benign 0.44
IGL02106:Trim37 APN 11 87201404 nonsense probably null
IGL02251:Trim37 APN 11 87167430 splice site probably benign
IGL02498:Trim37 APN 11 87185050 missense probably benign
IGL02836:Trim37 APN 11 87196959 missense probably benign 0.01
IGL03089:Trim37 APN 11 87190137 missense probably damaging 1.00
IGL03347:Trim37 APN 11 87201621 missense possibly damaging 0.80
G5030:Trim37 UTSW 11 87143141 missense probably damaging 0.96
R0396:Trim37 UTSW 11 87146968 missense probably damaging 1.00
R0544:Trim37 UTSW 11 87145502 nonsense probably null
R0946:Trim37 UTSW 11 87146955 missense probably damaging 0.99
R1481:Trim37 UTSW 11 87129759 nonsense probably null
R1799:Trim37 UTSW 11 87178019 missense probably damaging 1.00
R1851:Trim37 UTSW 11 87218306 missense probably damaging 1.00
R2107:Trim37 UTSW 11 87159825 missense probably benign 0.04
R3878:Trim37 UTSW 11 87206002 missense probably benign 0.10
R4049:Trim37 UTSW 11 87140603 critical splice donor site probably null
R4224:Trim37 UTSW 11 87216463 missense probably damaging 1.00
R4486:Trim37 UTSW 11 87196825 missense probably benign 0.31
R5244:Trim37 UTSW 11 87218257 missense probably benign 0.10
R5343:Trim37 UTSW 11 87137603 missense probably damaging 0.98
R5417:Trim37 UTSW 11 87166679 missense probably damaging 1.00
R5894:Trim37 UTSW 11 87201440 missense probably damaging 0.99
R5911:Trim37 UTSW 11 87196837 nonsense probably null
R5957:Trim37 UTSW 11 87145551 missense probably damaging 1.00
R6159:Trim37 UTSW 11 87216548 critical splice donor site probably null
R6479:Trim37 UTSW 11 87216487 nonsense probably null
R6527:Trim37 UTSW 11 87190084 missense probably damaging 1.00
R7021:Trim37 UTSW 11 87167509 missense probably benign 0.01
R7734:Trim37 UTSW 11 87177995 missense probably damaging 1.00
R7849:Trim37 UTSW 11 87201444 missense possibly damaging 0.87
R7938:Trim37 UTSW 11 87147037 missense probably benign 0.05
R7968:Trim37 UTSW 11 87149353 missense possibly damaging 0.47
R8046:Trim37 UTSW 11 87146968 missense possibly damaging 0.89
R8112:Trim37 UTSW 11 87218267 missense possibly damaging 0.80
Z1177:Trim37 UTSW 11 87185043 missense probably benign
Posted On2016-08-02