Incidental Mutation 'R7372:Trim72'
ID 572162
Institutional Source Beutler Lab
Gene Symbol Trim72
Ensembl Gene ENSMUSG00000042828
Gene Name tripartite motif-containing 72
Synonyms MG53, mitsugumin 53
MMRRC Submission 045455-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7372 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127603121-127610205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127603858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 68 (N68S)
Ref Sequence ENSEMBL: ENSMUSP00000079832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081042] [ENSMUST00000106248]
AlphaFold Q1XH17
Predicted Effect possibly damaging
Transcript: ENSMUST00000081042
AA Change: N68S

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: N68S

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: N68S

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: N68S

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
Meta Mutation Damage Score 0.1394 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 G A 1: 156,450,189 (GRCm39) V119M probably damaging Het
Acss2 T C 2: 155,399,100 (GRCm39) V454A probably damaging Het
Adam6b T A 12: 113,453,784 (GRCm39) D200E probably benign Het
Adarb1 T A 10: 77,131,712 (GRCm39) probably null Het
Aqp12 C T 1: 92,934,088 (GRCm39) probably benign Het
Atrnl1 T C 19: 57,924,078 (GRCm39) V1281A possibly damaging Het
Brdt A G 5: 107,518,160 (GRCm39) E761G possibly damaging Het
Bsn A T 9: 107,987,718 (GRCm39) I2678N unknown Het
C2cd2 A T 16: 97,676,580 (GRCm39) C136S Het
Camk4 A G 18: 33,318,178 (GRCm39) D445G probably benign Het
Cckar T C 5: 53,864,624 (GRCm39) T26A probably damaging Het
Cd209a T A 8: 3,798,857 (GRCm39) probably null Het
Cept1 A G 3: 106,411,056 (GRCm39) F379S probably benign Het
Crhr1 A G 11: 104,054,719 (GRCm39) probably null Het
Cryzl1 T C 16: 91,509,085 (GRCm39) E72G probably benign Het
Ctnnal1 T A 4: 56,826,285 (GRCm39) E526V possibly damaging Het
Cyp3a41a T C 5: 145,650,374 (GRCm39) I90V possibly damaging Het
Dek T C 13: 47,259,053 (GRCm39) E51G unknown Het
Dnaaf6rt A T 1: 31,262,432 (GRCm39) D138V probably damaging Het
Evc2 T A 5: 37,544,477 (GRCm39) V742E probably damaging Het
Fat4 G A 3: 38,944,358 (GRCm39) V1084M probably damaging Het
Fscb G A 12: 64,518,598 (GRCm39) T956I unknown Het
Glipr2 T C 4: 43,968,184 (GRCm39) L29P probably damaging Het
Gm19402 A T 10: 77,526,261 (GRCm39) S111T unknown Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gnl3 T C 14: 30,738,843 (GRCm39) K115E probably benign Het
Gpn1 T A 5: 31,658,465 (GRCm39) F147I probably damaging Het
Gsdmd T A 15: 75,737,618 (GRCm39) L232H probably benign Het
Helz2 A G 2: 180,880,216 (GRCm39) V500A possibly damaging Het
Hemk1 T C 9: 107,214,267 (GRCm39) E55G probably benign Het
Hs2st1 A T 3: 144,141,221 (GRCm39) probably null Het
Ighv1-63 A G 12: 115,459,486 (GRCm39) V37A probably damaging Het
Iqsec3 C A 6: 121,360,991 (GRCm39) E956* probably null Het
Kcnh8 T A 17: 53,201,129 (GRCm39) I521K probably damaging Het
Kif3c T A 12: 3,437,592 (GRCm39) M531K probably benign Het
Kif5c T A 2: 49,648,671 (GRCm39) probably null Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lcor T C 19: 41,573,945 (GRCm39) L900P probably damaging Het
Lrrc32 A G 7: 98,149,014 (GRCm39) D598G probably benign Het
Mug2 T C 6: 122,060,425 (GRCm39) V1387A possibly damaging Het
Nin T A 12: 70,102,803 (GRCm39) E275V Het
Or5p68 A G 7: 107,945,703 (GRCm39) F162L probably benign Het
Papolg A G 11: 23,816,439 (GRCm39) I698T probably benign Het
Pcdhb20 A G 18: 37,639,840 (GRCm39) N789D probably benign Het
Pik3cg C T 12: 32,247,196 (GRCm39) M842I probably damaging Het
Pnn T A 12: 59,115,765 (GRCm39) D135E probably damaging Het
Pold1 C A 7: 44,192,847 (GRCm39) R5L possibly damaging Het
Prl8a1 A T 13: 27,758,089 (GRCm39) F207I probably damaging Het
Prr11 A G 11: 86,989,600 (GRCm39) V257A probably benign Het
Prtg C T 9: 72,758,848 (GRCm39) R401* probably null Het
Rasgrp1 A G 2: 117,115,635 (GRCm39) M651T probably benign Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Snx13 A T 12: 35,128,950 (GRCm39) I23L probably benign Het
Snx7 A G 3: 117,576,000 (GRCm39) L429P probably damaging Het
Spta1 C T 1: 174,025,201 (GRCm39) Q689* probably null Het
Spty2d1 T C 7: 46,648,692 (GRCm39) D79G probably damaging Het
Tbc1d9b A G 11: 50,059,515 (GRCm39) probably null Het
Tnxb T C 17: 34,936,228 (GRCm39) F2722L possibly damaging Het
Tppp2 C T 14: 52,156,865 (GRCm39) R81C probably benign Het
Trim6 G T 7: 103,881,843 (GRCm39) A391S probably benign Het
Trim69 A C 2: 122,009,064 (GRCm39) T375P possibly damaging Het
Trrap G A 5: 144,726,208 (GRCm39) V386I probably benign Het
Ttn T C 2: 76,778,275 (GRCm39) I1371V unknown Het
Usp17lb A T 7: 104,490,913 (GRCm39) probably null Het
Vmn2r20 A T 6: 123,362,468 (GRCm39) L772Q probably damaging Het
Ypel3 A G 7: 126,379,200 (GRCm39) E91G probably benign Het
Zbtb21 C T 16: 97,751,569 (GRCm39) E905K possibly damaging Het
Zfp189 T A 4: 49,530,417 (GRCm39) C507S 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
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
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
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'- CTGGAATTCTTGTAATGGGACTCC -3'
(R):5'- TGAAAGTTCAGCAGTCCCACC -3'

Sequencing Primer
(F):5'- TCACCATGTCGGCTGCAC -3'
(R):5'- CACCTTGAGGCGTGCTTG -3'
Posted On 2019-09-13