Incidental Mutation 'IGL02794:Trim72'
ID 359886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim72
Ensembl Gene ENSMUSG00000042828
Gene Name tripartite motif-containing 72
Synonyms MG53, mitsugumin 53
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL02794
Quality Score
Status
Chromosome 7
Chromosomal Location 127603121-127610205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127603704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 17 (C17R)
Ref Sequence ENSEMBL: ENSMUSP00000101855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081042] [ENSMUST00000106248]
AlphaFold Q1XH17
Predicted Effect probably damaging
Transcript: ENSMUST00000081042
AA Change: C17R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: C17R

DomainStartEndE-ValueType
RING 14 56 5.14e-7 SMART
BBOX 81 122 3.89e-7 SMART
coiled coil region 135 169 N/A INTRINSIC
coiled coil region 204 232 N/A INTRINSIC
PRY 288 341 6.48e-13 SMART
Pfam:SPRY 342 472 4.9e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106248
AA Change: C17R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: C17R

DomainStartEndE-ValueType
RING 14 56 5.14e-7 SMART
BBOX 81 122 3.89e-7 SMART
coiled coil region 135 169 N/A INTRINSIC
coiled coil region 204 232 N/A INTRINSIC
PRY 288 341 6.48e-13 SMART
Pfam:SPRY 344 465 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206216
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice with disruption of this gene display muscle pathologies that develop with age. Mice homozygous for a knock-out allele exhibit enhanced myogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,621,385 (GRCm39) C1082S probably benign Het
Akt2 G T 7: 27,328,806 (GRCm39) R176L probably benign Het
Aldh16a1 A G 7: 44,795,018 (GRCm39) Y484H probably damaging Het
Apeh A G 9: 107,969,209 (GRCm39) S280P possibly damaging Het
Atp1a4 T C 1: 172,071,653 (GRCm39) M481V probably benign Het
Atraid G A 5: 31,210,214 (GRCm39) S135N probably damaging Het
Camta2 C T 11: 70,566,484 (GRCm39) G677D possibly damaging Het
Ccdc18 A G 5: 108,319,614 (GRCm39) N545S probably benign Het
Cic A G 7: 24,985,069 (GRCm39) D1105G probably damaging Het
Crisp1 A T 17: 40,623,957 (GRCm39) M4K unknown Het
Crnkl1 C T 2: 145,772,532 (GRCm39) E182K possibly damaging Het
Dnmt1 A T 9: 20,847,847 (GRCm39) C114S probably benign Het
Dsc2 A T 18: 20,174,788 (GRCm39) Y496N probably damaging Het
Dst T C 1: 34,309,910 (GRCm39) V1528A probably damaging Het
Fbxl8 C T 8: 105,994,752 (GRCm39) T88M probably benign Het
Fbxo10 T C 4: 45,041,928 (GRCm39) N767S probably benign Het
Gm1527 A G 3: 28,949,829 (GRCm39) T30A unknown Het
Gorasp2 C A 2: 70,509,838 (GRCm39) Y166* probably null Het
Gucy2c T A 6: 136,690,146 (GRCm39) Q744L probably damaging Het
Heg1 A T 16: 33,546,992 (GRCm39) N593I probably damaging Het
Ice1 T A 13: 70,757,278 (GRCm39) S236C possibly damaging Het
Il12b T C 11: 44,298,808 (GRCm39) Y88H probably damaging Het
Izumo3 C T 4: 92,035,200 (GRCm39) V6I probably benign Het
Kcna6 A G 6: 126,715,515 (GRCm39) V458A probably damaging Het
Kif13b G A 14: 65,040,889 (GRCm39) R1659Q probably benign Het
Klk1b1 A G 7: 43,619,789 (GRCm39) D116G possibly damaging Het
Lama2 T C 10: 26,917,227 (GRCm39) T2233A possibly damaging Het
Lin9 A T 1: 180,479,444 (GRCm39) K59N probably damaging Het
Ltbp2 T C 12: 84,838,709 (GRCm39) E1083G probably damaging Het
Mfsd11 T A 11: 116,750,177 (GRCm39) S105T probably damaging Het
Mga T A 2: 119,776,770 (GRCm39) I1768N possibly damaging Het
Mical3 C A 6: 120,984,270 (GRCm39) G202V probably damaging Het
Mylk A T 16: 34,806,911 (GRCm39) I1719F probably benign Het
Nusap1 T A 2: 119,460,867 (GRCm39) F120Y possibly damaging Het
Or52e8 T A 7: 104,624,596 (GRCm39) M203L probably benign Het
Or8b56 T A 9: 38,739,511 (GRCm39) C175S probably damaging Het
Or8k32 T C 2: 86,368,492 (GRCm39) T256A possibly damaging Het
Pidd1 T C 7: 141,023,021 (GRCm39) Y57C probably benign Het
Pik3cd T A 4: 149,739,028 (GRCm39) M671L probably benign Het
Ppp5c A G 7: 16,740,885 (GRCm39) V361A probably benign Het
Prune2 T C 19: 17,096,725 (GRCm39) V743A probably benign Het
Siglec1 C A 2: 130,917,889 (GRCm39) S996I possibly damaging Het
Slc12a7 A G 13: 73,957,206 (GRCm39) R948G possibly damaging Het
Slc40a1 A T 1: 45,948,668 (GRCm39) Y537* probably null Het
Smarca4 T A 9: 21,584,638 (GRCm39) probably benign Het
Smg6 C T 11: 74,944,760 (GRCm39) P1109S probably damaging Het
Sorl1 T A 9: 41,975,070 (GRCm39) N513Y probably damaging Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Ttc3 T C 16: 94,268,785 (GRCm39) C1956R probably damaging Het
Vmn1r211 G T 13: 23,036,379 (GRCm39) T96N possibly damaging Het
Vmn1r211 C A 13: 23,036,376 (GRCm39) S97I probably damaging Het
Vmn1r211 T A 13: 23,036,377 (GRCm39) S97C probably damaging Het
Vmn2r66 A T 7: 84,644,623 (GRCm39) S596T probably benign Het
Zfp609 A G 9: 65,611,602 (GRCm39) S454P possibly damaging Het
Other mutations in Trim72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Trim72 APN 7 127,607,136 (GRCm39) missense probably damaging 0.97
IGL02538:Trim72 APN 7 127,603,942 (GRCm39) missense probably damaging 1.00
IGL03077:Trim72 APN 7 127,607,013 (GRCm39) missense probably benign
H8786:Trim72 UTSW 7 127,603,963 (GRCm39) missense probably damaging 0.99
R1101:Trim72 UTSW 7 127,609,419 (GRCm39) missense possibly damaging 0.94
R1711:Trim72 UTSW 7 127,603,757 (GRCm39) missense probably damaging 1.00
R1826:Trim72 UTSW 7 127,607,016 (GRCm39) missense possibly damaging 0.59
R1853:Trim72 UTSW 7 127,608,254 (GRCm39) missense probably benign 0.01
R1854:Trim72 UTSW 7 127,608,254 (GRCm39) missense probably benign 0.01
R2513:Trim72 UTSW 7 127,603,878 (GRCm39) missense possibly damaging 0.93
R4163:Trim72 UTSW 7 127,607,080 (GRCm39) missense probably benign 0.05
R4587:Trim72 UTSW 7 127,607,164 (GRCm39) missense probably benign 0.21
R5027:Trim72 UTSW 7 127,607,137 (GRCm39) missense probably damaging 0.99
R5067:Trim72 UTSW 7 127,609,139 (GRCm39) missense possibly damaging 0.86
R5276:Trim72 UTSW 7 127,603,714 (GRCm39) missense probably damaging 1.00
R5290:Trim72 UTSW 7 127,609,176 (GRCm39) missense probably benign 0.03
R5339:Trim72 UTSW 7 127,609,505 (GRCm39) missense probably benign
R5410:Trim72 UTSW 7 127,609,095 (GRCm39) missense probably damaging 1.00
R6301:Trim72 UTSW 7 127,603,786 (GRCm39) missense possibly damaging 0.93
R6594:Trim72 UTSW 7 127,609,220 (GRCm39) missense probably damaging 1.00
R6774:Trim72 UTSW 7 127,609,558 (GRCm39) missense probably damaging 1.00
R7162:Trim72 UTSW 7 127,606,821 (GRCm39) missense probably benign 0.18
R7372:Trim72 UTSW 7 127,603,858 (GRCm39) missense possibly damaging 0.63
R7937:Trim72 UTSW 7 127,609,491 (GRCm39) missense probably benign 0.03
R9228:Trim72 UTSW 7 127,608,315 (GRCm39) missense possibly damaging 0.91
R9364:Trim72 UTSW 7 127,609,173 (GRCm39) missense possibly damaging 0.60
R9668:Trim72 UTSW 7 127,609,092 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18