Incidental Mutation 'IGL02195:Trim72'
ID284038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim72
Ensembl Gene ENSMUSG00000042828
Gene Nametripartite motif-containing 72
Synonymsmitsugumin 53, MG53
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02195
Quality Score
Status
Chromosome7
Chromosomal Location128003949-128011033 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 128007964 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 222 (M222L)
Ref Sequence ENSEMBL: ENSMUSP00000101855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081042] [ENSMUST00000106248]
Predicted Effect probably damaging
Transcript: ENSMUST00000081042
AA Change: M222L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: M222L

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: M222L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: M222L

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,259,397 L148P probably damaging Het
Anpep G T 7: 79,826,685 A65D probably damaging Het
Birc6 C T 17: 74,697,381 probably benign Het
Car11 G T 7: 45,701,292 V71L probably damaging Het
Cecr2 A G 6: 120,731,406 Y123C probably damaging Het
Dnm2 G A 9: 21,425,249 V52M probably damaging Het
Fbxo21 T A 5: 118,002,154 C560S probably damaging Het
Gatb A T 3: 85,604,448 Y170F probably benign Het
Ighv1-54 A T 12: 115,193,950 S26T possibly damaging Het
Ints8 A T 4: 11,221,222 W718R probably damaging Het
Iqgap2 T A 13: 95,661,734 probably benign Het
Kif4 T C X: 100,726,216 F1154S probably damaging Het
Klhl18 A G 9: 110,438,902 C253R possibly damaging Het
Lilra6 T C 7: 3,914,550 S149G probably benign Het
Lonrf1 G A 8: 36,219,948 R745* probably null Het
Manea A C 4: 26,340,628 Y111* probably null Het
Map2k1 A G 9: 64,193,808 I196T probably benign Het
Matn4 T C 2: 164,401,052 D42G probably damaging Het
Meioc C A 11: 102,674,857 T433K possibly damaging Het
Mtmr7 A G 8: 40,560,905 V204A probably damaging Het
Nus1 A G 10: 52,433,369 D91G probably damaging Het
Olfr160 A G 9: 37,712,121 S53P probably benign Het
Pisd A G 5: 32,737,315 L549P probably damaging Het
Plcg1 T C 2: 160,753,926 Y572H possibly damaging Het
Prdm15 A G 16: 97,835,829 V96A probably damaging Het
Prune2 C A 19: 17,119,557 D808E probably benign Het
Sema5b G A 16: 35,660,479 probably null Het
Shank3 A T 15: 89,548,118 Q947L probably damaging Het
Sned1 A G 1: 93,274,160 E616G probably benign Het
Snx18 T C 13: 113,616,840 H519R probably damaging Het
Syde2 A G 3: 146,002,156 T617A probably damaging Het
Tmem139 G T 6: 42,263,967 R162L probably damaging Het
Other mutations in Trim72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02538:Trim72 APN 7 128004770 missense probably damaging 1.00
IGL02794:Trim72 APN 7 128004532 missense probably damaging 1.00
IGL03077:Trim72 APN 7 128007841 missense probably benign
H8786:Trim72 UTSW 7 128004791 missense probably damaging 0.99
R1101:Trim72 UTSW 7 128010247 missense possibly damaging 0.94
R1711:Trim72 UTSW 7 128004585 missense probably damaging 1.00
R1826:Trim72 UTSW 7 128007844 missense possibly damaging 0.59
R1853:Trim72 UTSW 7 128009082 missense probably benign 0.01
R1854:Trim72 UTSW 7 128009082 missense probably benign 0.01
R2513:Trim72 UTSW 7 128004706 missense possibly damaging 0.93
R4163:Trim72 UTSW 7 128007908 missense probably benign 0.05
R4587:Trim72 UTSW 7 128007992 missense probably benign 0.21
R5027:Trim72 UTSW 7 128007965 missense probably damaging 0.99
R5067:Trim72 UTSW 7 128009967 missense possibly damaging 0.86
R5276:Trim72 UTSW 7 128004542 missense probably damaging 1.00
R5290:Trim72 UTSW 7 128010004 missense probably benign 0.03
R5339:Trim72 UTSW 7 128010333 missense probably benign
R5410:Trim72 UTSW 7 128009923 missense probably damaging 1.00
R6301:Trim72 UTSW 7 128004614 missense possibly damaging 0.93
R6594:Trim72 UTSW 7 128010048 missense probably damaging 1.00
R6774:Trim72 UTSW 7 128010386 missense probably damaging 1.00
R7162:Trim72 UTSW 7 128007649 missense probably benign 0.18
R7372:Trim72 UTSW 7 128004686 missense possibly damaging 0.63
R7937:Trim72 UTSW 7 128010319 missense probably benign 0.03
Posted On2015-04-16