Incidental Mutation 'R6444:Trim56'
ID 519123
Institutional Source Beutler Lab
Gene Symbol Trim56
Ensembl Gene ENSMUSG00000043279
Gene Name tripartite motif-containing 56
Synonyms A130009K11Rik, RNF109, LOC384309
MMRRC Submission 044582-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6444 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137140140-137145313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137141470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 682 (V682A)
Ref Sequence ENSEMBL: ENSMUSP00000058109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054384] [ENSMUST00000152207]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000054384
AA Change: V682A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058109
Gene: ENSMUSG00000043279
AA Change: V682A

DomainStartEndE-ValueType
RING 21 59 9.09e-8 SMART
low complexity region 118 133 N/A INTRINSIC
Pfam:zf-B_box 164 205 1.9e-7 PFAM
coiled coil region 257 291 N/A INTRINSIC
low complexity region 302 309 N/A INTRINSIC
low complexity region 381 399 N/A INTRINSIC
low complexity region 432 447 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152207
SMART Domains Protein: ENSMUSP00000117874
Gene: ENSMUSG00000043279

DomainStartEndE-ValueType
RING 21 59 9.09e-8 SMART
low complexity region 118 133 N/A INTRINSIC
Pfam:zf-B_box 164 205 2.4e-9 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik ACAGAGCAGTGCCTACCAG ACAG 5: 138,637,831 (GRCm39) probably benign Het
Bcas2 T A 3: 103,079,362 (GRCm39) probably null Het
Camk1d A T 2: 5,317,956 (GRCm39) I233N probably damaging Het
Chd2 T C 7: 73,150,785 (GRCm39) probably null Het
Cnot2 T C 10: 116,335,260 (GRCm39) D246G probably benign Het
Cped1 A C 6: 21,986,930 (GRCm39) I41L probably benign Het
Dcdc2c A G 12: 28,585,475 (GRCm39) V174A probably damaging Het
Dscam G A 16: 96,420,844 (GRCm39) R1681C probably damaging Het
Dysf G A 6: 84,167,822 (GRCm39) V1755M probably benign Het
Eif5b G A 1: 38,075,292 (GRCm39) D590N probably damaging Het
Fntb A G 12: 76,963,214 (GRCm39) Y399C probably damaging Het
Galns T C 8: 123,338,077 (GRCm39) M1V probably null Het
Galnt15 T C 14: 31,762,368 (GRCm39) F199L probably damaging Het
Gm8229 A T 14: 44,602,928 (GRCm39) H38L unknown Het
Magel2 T C 7: 62,029,747 (GRCm39) Y884H unknown Het
Miga1 A T 3: 151,989,468 (GRCm39) V473E probably damaging Het
Mrgprx1 C T 7: 47,671,562 (GRCm39) V62I possibly damaging Het
Mybl1 G A 1: 9,755,917 (GRCm39) P211S possibly damaging Het
Myo19 A G 11: 84,786,134 (GRCm39) H254R probably benign Het
Myo1h A G 5: 114,453,017 (GRCm39) T6A possibly damaging Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Or5b119 A T 19: 13,456,794 (GRCm39) M256K possibly damaging Het
Or8g20 T C 9: 39,395,614 (GRCm39) T309A probably benign Het
Psmd12 A G 11: 107,377,280 (GRCm39) E113G possibly damaging Het
Ptpn3 T C 4: 57,195,730 (GRCm39) D879G possibly damaging Het
Rufy3 A G 5: 88,785,166 (GRCm39) Q414R probably damaging Het
Slc14a2 A G 18: 78,197,317 (GRCm39) I813T probably damaging Het
Smok2a G T 17: 13,444,500 (GRCm39) A26S probably benign Het
Spsb3 T A 17: 25,110,550 (GRCm39) L459Q probably damaging Het
Tacc2 T C 7: 130,225,142 (GRCm39) V609A possibly damaging Het
Tmem185b C A 1: 119,454,365 (GRCm39) A42E probably damaging Het
Trim75 T C 8: 65,435,488 (GRCm39) K321E possibly damaging Het
Ttc17 A C 2: 94,133,891 (GRCm39) M1098R possibly damaging Het
Ydjc C A 16: 16,965,545 (GRCm39) H136Q probably damaging Het
Zfp568 A T 7: 29,716,682 (GRCm39) H193L probably benign Het
Znhit1 A G 5: 137,011,254 (GRCm39) V153A probably benign Het
Other mutations in Trim56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Trim56 APN 5 137,143,354 (GRCm39) missense possibly damaging 0.95
IGL02604:Trim56 APN 5 137,141,930 (GRCm39) missense probably damaging 0.98
IGL02653:Trim56 APN 5 137,141,760 (GRCm39) missense probably damaging 1.00
IGL03069:Trim56 APN 5 137,142,616 (GRCm39) missense probably damaging 0.99
R0711:Trim56 UTSW 5 137,141,846 (GRCm39) missense probably benign 0.00
R1167:Trim56 UTSW 5 137,141,374 (GRCm39) missense probably damaging 0.98
R1470:Trim56 UTSW 5 137,142,017 (GRCm39) missense probably damaging 0.99
R1470:Trim56 UTSW 5 137,142,017 (GRCm39) missense probably damaging 0.99
R1508:Trim56 UTSW 5 137,142,791 (GRCm39) missense probably benign 0.00
R1791:Trim56 UTSW 5 137,143,252 (GRCm39) missense probably damaging 1.00
R2484:Trim56 UTSW 5 137,141,528 (GRCm39) missense possibly damaging 0.95
R4274:Trim56 UTSW 5 137,142,541 (GRCm39) missense probably damaging 1.00
R4579:Trim56 UTSW 5 137,142,918 (GRCm39) missense possibly damaging 0.60
R4766:Trim56 UTSW 5 137,141,579 (GRCm39) missense probably benign 0.07
R4932:Trim56 UTSW 5 137,143,343 (GRCm39) missense probably damaging 1.00
R5117:Trim56 UTSW 5 137,142,832 (GRCm39) missense probably benign 0.13
R6747:Trim56 UTSW 5 137,143,375 (GRCm39) missense probably damaging 1.00
R6962:Trim56 UTSW 5 137,141,501 (GRCm39) missense probably damaging 0.97
R7115:Trim56 UTSW 5 137,142,514 (GRCm39) missense probably damaging 0.98
R7266:Trim56 UTSW 5 137,143,097 (GRCm39) missense probably damaging 0.98
R7706:Trim56 UTSW 5 137,143,510 (GRCm39) missense probably benign 0.00
R8347:Trim56 UTSW 5 137,141,446 (GRCm39) missense probably damaging 1.00
R8492:Trim56 UTSW 5 137,141,783 (GRCm39) missense probably benign
R8695:Trim56 UTSW 5 137,143,429 (GRCm39) missense probably benign 0.15
R9152:Trim56 UTSW 5 137,143,387 (GRCm39) missense probably benign 0.06
R9166:Trim56 UTSW 5 137,142,751 (GRCm39) missense probably damaging 1.00
R9232:Trim56 UTSW 5 137,141,632 (GRCm39) missense probably damaging 1.00
X0019:Trim56 UTSW 5 137,143,064 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAAAGCCGCTTTAGCTGTC -3'
(R):5'- TTATCCCTGGAGGCAAGGCTAG -3'

Sequencing Primer
(F):5'- CGCTTTAGCTGTCAGGAAAC -3'
(R):5'- GGCACTGGTGTTCCTAACCAC -3'
Posted On 2018-05-24