Incidental Mutation 'R1101:Trim72'
ID 98091
Institutional Source Beutler Lab
Gene Symbol Trim72
Ensembl Gene ENSMUSG00000042828
Gene Name tripartite motif-containing 72
Synonyms MG53, mitsugumin 53
MMRRC Submission 039174-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R1101 (G1)
Quality Score 150
Status Not validated
Chromosome 7
Chromosomal Location 127603121-127610205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127609419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 407 (E407G)
Ref Sequence ENSEMBL: ENSMUSP00000101855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081042] [ENSMUST00000106248]
AlphaFold Q1XH17
Predicted Effect possibly damaging
Transcript: ENSMUST00000081042
AA Change: E407G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: E407G

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 possibly damaging
Transcript: ENSMUST00000106248
AA Change: E407G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: E407G

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: ENSMUST00000206996
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
2610021A01Rik C A 7: 41,276,783 (GRCm39) H829N probably damaging Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abi3bp G T 16: 56,426,521 (GRCm39) R512L probably damaging Het
Acot2 T G 12: 84,039,624 (GRCm39) S378A probably benign Het
Akap9 T C 5: 4,096,205 (GRCm39) I2360T probably benign Het
Bank1 T C 3: 135,989,625 (GRCm39) D155G probably benign Het
Bsn A G 9: 107,993,610 (GRCm39) V714A probably damaging Het
Cdh15 G A 8: 123,587,585 (GRCm39) V170I possibly damaging Het
Clcn2 G A 16: 20,522,345 (GRCm39) T787I probably damaging Het
Dapk1 A G 13: 60,864,599 (GRCm39) H131R probably damaging Het
Dct T G 14: 118,274,034 (GRCm39) D291A probably damaging Het
Dhx37 A G 5: 125,492,216 (GRCm39) Y1128H probably damaging Het
Dip2c A T 13: 9,684,780 (GRCm39) I1174F probably damaging Het
Eif3l A G 15: 78,959,467 (GRCm39) Y3C probably damaging Het
Enpp5 A G 17: 44,392,258 (GRCm39) N229S possibly damaging Het
Fam83b A T 9: 76,452,952 (GRCm39) H38Q possibly damaging Het
Fcamr T A 1: 130,742,223 (GRCm39) probably null Het
Hdac2 G A 10: 36,867,805 (GRCm39) V184I probably damaging Het
Igf2bp2 A T 16: 21,981,700 (GRCm39) L5Q probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Ireb2 T A 9: 54,816,986 (GRCm39) H951Q probably benign Het
Lman1 T A 18: 66,120,969 (GRCm39) M418L probably benign Het
Lrrfip2 C T 9: 111,019,293 (GRCm39) R275W probably damaging Het
Mast3 T A 8: 71,239,307 (GRCm39) I424F probably damaging Het
Mep1a T C 17: 43,802,584 (GRCm39) D147G probably benign Het
Mtr C A 13: 12,204,411 (GRCm39) E1128D possibly damaging Het
Ogfod1 C A 8: 94,790,932 (GRCm39) S534R probably benign Het
Or4c107 A T 2: 88,789,328 (GRCm39) I173F possibly damaging Het
Or4k42 T C 2: 111,319,787 (GRCm39) T239A probably damaging Het
Or5k1 A G 16: 58,617,615 (GRCm39) V198A probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcdh18 T A 3: 49,707,828 (GRCm39) D882V probably damaging Het
Pik3cg C T 12: 32,245,645 (GRCm39) G868S probably null Het
Plppr5 T G 3: 117,456,172 (GRCm39) M231R probably damaging Het
Polr2a T C 11: 69,638,897 (GRCm39) T46A probably benign Het
Ppp4r3a C A 12: 101,017,830 (GRCm39) R440L probably damaging Het
Serpinb9e A T 13: 33,444,071 (GRCm39) T364S probably benign Het
Sirt3 A G 7: 140,449,541 (GRCm39) V135A possibly damaging Het
Supt16 T C 14: 52,408,896 (GRCm39) N826S probably null Het
Tbr1 T C 2: 61,635,083 (GRCm39) I11T probably benign Het
Vps72 C A 3: 95,026,487 (GRCm39) T144K probably 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
IGL02794:Trim72 APN 7 127,603,704 (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
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
Predicted Primers PCR Primer
(F):5'- TCAGTTCGACAAGGCAGTAGCG -3'
(R):5'- GACCTAACAAAGGTGGCCTGAGTG -3'

Sequencing Primer
(F):5'- TCACAGGGCGAGCACTATTG -3'
(R):5'- TGGCCTGAGTGATCCCAC -3'
Posted On 2014-01-05