Incidental Mutation 'IGL03077:Trim72'
ID417739
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 #IGL03077
Quality Score
Status
Chromosome7
Chromosomal Location128003949-128011033 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 128007841 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 181 (M181L)
Ref Sequence ENSEMBL: ENSMUSP00000101855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081042] [ENSMUST00000106248]
Predicted Effect probably benign
Transcript: ENSMUST00000081042
AA Change: M181L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: M181L

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 benign
Transcript: ENSMUST00000106248
AA Change: M181L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: M181L

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,212,795 probably benign Het
Abcg8 A G 17: 84,691,880 N135D probably damaging Het
Ak4 T C 4: 101,419,951 L44P probably damaging Het
Angpt1 C A 15: 42,476,422 G298* probably null Het
Appl2 C T 10: 83,621,759 probably benign Het
Arhgap19 T A 19: 41,781,321 H341L probably benign Het
Chmp5 T C 4: 40,952,438 S98P probably benign Het
Chp1 A T 2: 119,584,600 Q161L probably benign Het
Clgn T C 8: 83,424,140 V478A probably benign Het
Cyp2b19 A T 7: 26,762,384 M210L probably benign Het
Eif4g3 T A 4: 138,125,855 V244D probably damaging Het
Ftcd T C 10: 76,581,627 I300T probably damaging Het
Gm12886 C T 4: 121,415,500 probably benign Het
Klrb1f A T 6: 129,053,802 E92V probably null Het
Krt23 A G 11: 99,483,874 probably benign Het
Mib2 T G 4: 155,659,443 R47S probably benign Het
Mindy4 A G 6: 55,309,330 T728A probably damaging Het
Myh15 A G 16: 49,096,538 N407S probably benign Het
Nlrp4f A G 13: 65,194,598 V411A probably benign Het
Olfr1118 T C 2: 87,309,712 *328Q probably null Het
Olfr1255 A C 2: 89,817,142 D266A probably damaging Het
Otud4 T G 8: 79,673,458 S934A probably damaging Het
P3h1 C T 4: 119,236,786 R213W probably damaging Het
Phrf1 A T 7: 141,254,968 K19* probably null Het
Prl3b1 A T 13: 27,245,776 M66L probably benign Het
Psmd7 T C 8: 107,582,467 T149A probably benign Het
Samd4b T C 7: 28,406,443 D450G probably damaging Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Snrpa G A 7: 27,191,761 T95I probably benign Het
Traip A G 9: 107,962,926 probably benign Het
Trbc1 T A 6: 41,538,449 probably benign Het
Ttc41 T C 10: 86,758,348 Y882H probably damaging Het
Vmn1r191 A C 13: 22,179,146 I146S probably benign Het
Vmn2r9 G T 5: 108,848,307 probably benign Het
Vps13a A G 19: 16,710,882 S854P probably benign Het
Wdfy1 T C 1: 79,714,905 K232E possibly damaging Het
Xpr1 A T 1: 155,281,028 D625E possibly damaging Het
Zbbx T A 3: 75,081,846 T317S possibly damaging Het
Other mutations in Trim72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Trim72 APN 7 128007964 missense probably damaging 0.97
IGL02538:Trim72 APN 7 128004770 missense probably damaging 1.00
IGL02794:Trim72 APN 7 128004532 missense probably damaging 1.00
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 On2016-08-02