Incidental Mutation 'R5237:Trim69'
ID 398483
Institutional Source Beutler Lab
Gene Symbol Trim69
Ensembl Gene ENSMUSG00000033368
Gene Name tripartite motif-containing 69
Synonyms Rnf36, Trif, 4921519C19Rik
MMRRC Submission 042808-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5237 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 121991189-122009503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122003821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 257 (T257A)
Ref Sequence ENSEMBL: ENSMUSP00000047627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028665] [ENSMUST00000036089]
AlphaFold Q80X56
Predicted Effect probably benign
Transcript: ENSMUST00000028665
SMART Domains Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233

DomainStartEndE-ValueType
low complexity region 33 41 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:PAT1 247 490 6.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036089
AA Change: T257A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: T257A

DomainStartEndE-ValueType
RING 42 82 8.48e-8 SMART
low complexity region 95 111 N/A INTRINSIC
PDB:4NQJ|C 144 322 2e-86 PDB
PRY 323 375 9.37e-19 SMART
SPRY 376 500 4.97e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143088
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 100% (76/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,850 (GRCm39) W369* probably null Het
Adamts3 A T 5: 89,923,236 (GRCm39) M190K probably benign Het
Adamtsl1 T C 4: 86,303,906 (GRCm39) probably null Het
Adcy1 A T 11: 7,099,553 (GRCm39) I678L probably benign Het
Agtrap A G 4: 148,166,817 (GRCm39) S27P probably benign Het
Ankrd24 C A 10: 81,478,379 (GRCm39) probably benign Het
Atg2a G T 19: 6,296,844 (GRCm39) V383L probably benign Het
Ccdc40 T C 11: 119,150,802 (GRCm39) V1105A probably benign Het
Cenpf A T 1: 189,391,730 (GRCm39) S684T probably benign Het
Cog7 A G 7: 121,550,444 (GRCm39) L360P probably damaging Het
Col12a1 T A 9: 79,607,544 (GRCm39) Q428L probably benign Het
Col4a1 G A 8: 11,295,068 (GRCm39) probably benign Het
Cpeb2 G A 5: 43,443,099 (GRCm39) C930Y probably damaging Het
Cul9 T C 17: 46,854,393 (GRCm39) D103G probably benign Het
Cyb5a T G 18: 84,889,689 (GRCm39) F39L probably damaging Het
Cyp2d12 T A 15: 82,442,207 (GRCm39) probably null Het
Dnah7a A C 1: 53,486,690 (GRCm39) probably null Het
Efcab9 A T 11: 32,472,832 (GRCm39) I205K probably benign Het
Ezh1 A G 11: 101,107,819 (GRCm39) probably null Het
Galnt6 C A 15: 100,591,274 (GRCm39) C610F probably damaging Het
Gata4 C T 14: 63,478,075 (GRCm39) A175T probably benign Het
Gcc1 A T 6: 28,420,651 (GRCm39) I222K probably benign Het
Gm5591 T A 7: 38,221,631 (GRCm39) H146L probably benign Het
H2-T23 C T 17: 36,341,258 (GRCm39) probably null Het
Hmcn2 T A 2: 31,304,728 (GRCm39) I3124N probably benign Het
Hsf2 C A 10: 57,382,317 (GRCm39) D364E probably benign Het
Il15ra A G 2: 11,738,016 (GRCm39) T250A possibly damaging Het
Large2 T C 2: 92,197,487 (GRCm39) E372G probably benign Het
Map2 A G 1: 66,478,169 (GRCm39) probably benign Het
Med24 T C 11: 98,601,609 (GRCm39) Y524C probably damaging Het
Mfsd6l C A 11: 68,448,096 (GRCm39) Q316K probably benign Het
Mroh6 T C 15: 75,757,840 (GRCm39) T417A possibly damaging Het
Mymk T C 2: 26,952,200 (GRCm39) *181W probably null Het
Nup210l A G 3: 90,087,505 (GRCm39) T1093A probably benign Het
Or10al4 T A 17: 38,037,268 (GRCm39) C118S probably damaging Het
Or10p1 A G 10: 129,443,732 (GRCm39) V206A probably benign Het
Or52w1 A T 7: 105,018,513 (GRCm39) K327* probably null Het
Or8b54 C T 9: 38,687,252 (GRCm39) R234W probably damaging Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pex26 T A 6: 121,162,806 (GRCm39) L119Q probably damaging Het
Phldb2 T C 16: 45,568,249 (GRCm39) I1219V probably damaging Het
Plch2 A G 4: 155,095,251 (GRCm39) V64A probably benign Het
Plekho1 A G 3: 95,902,937 (GRCm39) V24A probably damaging Het
Pon2 A C 6: 5,265,455 (GRCm39) S311A probably benign Het
Pramel31 G T 4: 144,089,041 (GRCm39) E120* probably null Het
Rsrc2 T C 5: 123,877,645 (GRCm39) probably benign Het
Selenov T C 7: 27,987,572 (GRCm39) D295G probably damaging Het
Serpina10 T A 12: 103,595,075 (GRCm39) Y48F probably benign Het
Setbp1 T A 18: 78,900,190 (GRCm39) D1159V possibly damaging Het
Setx C T 2: 29,036,995 (GRCm39) T1160I probably benign Het
Sin3b A C 8: 73,459,971 (GRCm39) probably null Het
Skint11 A G 4: 114,102,042 (GRCm39) K352E possibly damaging Het
Slitrk5 T A 14: 111,919,118 (GRCm39) V914E possibly damaging Het
Srgap1 A G 10: 121,643,788 (GRCm39) Y633H probably damaging Het
Stard9 A G 2: 120,529,839 (GRCm39) D2032G probably damaging Het
Sv2c G A 13: 96,118,391 (GRCm39) T486I possibly damaging Het
Tesk1 T C 4: 43,447,100 (GRCm39) F496S probably damaging Het
Tfg T A 16: 56,533,071 (GRCm39) E29D possibly damaging Het
Tnc G A 4: 63,880,333 (GRCm39) T2038I probably damaging Het
Tor4a T G 2: 25,084,976 (GRCm39) N309T probably damaging Het
Trpm6 C T 19: 18,790,828 (GRCm39) A621V probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r6 A C 6: 56,980,179 (GRCm39) Q258H probably damaging Het
Vmn2r84 A G 10: 130,221,863 (GRCm39) C786R probably damaging Het
Xylt2 T C 11: 94,557,953 (GRCm39) D638G probably benign Het
Zfp934 A G 13: 62,665,652 (GRCm39) C330R probably damaging Het
Other mutations in Trim69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Trim69 APN 2 121,998,195 (GRCm39) missense probably benign 0.00
IGL01321:Trim69 APN 2 122,003,765 (GRCm39) missense possibly damaging 0.84
IGL01478:Trim69 APN 2 122,008,924 (GRCm39) missense probably damaging 0.98
IGL01907:Trim69 APN 2 121,998,142 (GRCm39) missense probably benign 0.00
IGL01925:Trim69 APN 2 121,998,397 (GRCm39) missense probably damaging 1.00
IGL03065:Trim69 APN 2 122,009,115 (GRCm39) missense probably damaging 0.98
IGL03121:Trim69 APN 2 121,998,128 (GRCm39) missense probably benign 0.22
IGL03206:Trim69 APN 2 122,003,636 (GRCm39) missense probably benign 0.00
R0019:Trim69 UTSW 2 122,004,958 (GRCm39) splice site probably null
R0019:Trim69 UTSW 2 122,004,958 (GRCm39) splice site probably null
R1956:Trim69 UTSW 2 122,004,956 (GRCm39) critical splice donor site probably null
R1960:Trim69 UTSW 2 121,998,165 (GRCm39) missense probably benign 0.00
R2212:Trim69 UTSW 2 122,009,125 (GRCm39) missense probably benign 0.05
R3412:Trim69 UTSW 2 122,009,125 (GRCm39) missense probably benign 0.05
R3414:Trim69 UTSW 2 122,009,125 (GRCm39) missense probably benign 0.05
R3900:Trim69 UTSW 2 122,009,322 (GRCm39) missense probably benign 0.03
R4470:Trim69 UTSW 2 122,009,080 (GRCm39) missense probably damaging 1.00
R4950:Trim69 UTSW 2 122,009,227 (GRCm39) missense probably damaging 1.00
R5045:Trim69 UTSW 2 122,004,727 (GRCm39) missense probably benign 0.08
R5931:Trim69 UTSW 2 122,009,075 (GRCm39) missense probably damaging 0.98
R6483:Trim69 UTSW 2 121,998,081 (GRCm39) nonsense probably null
R6872:Trim69 UTSW 2 121,998,391 (GRCm39) missense probably damaging 1.00
R7372:Trim69 UTSW 2 122,009,064 (GRCm39) missense possibly damaging 0.94
R7451:Trim69 UTSW 2 121,998,508 (GRCm39) missense probably benign 0.19
R7591:Trim69 UTSW 2 121,998,454 (GRCm39) missense probably benign 0.17
R8353:Trim69 UTSW 2 121,998,490 (GRCm39) missense possibly damaging 0.73
R8551:Trim69 UTSW 2 122,003,810 (GRCm39) missense probably benign 0.00
R9025:Trim69 UTSW 2 122,003,771 (GRCm39) missense probably benign 0.03
R9075:Trim69 UTSW 2 122,009,264 (GRCm39) missense probably benign 0.02
R9413:Trim69 UTSW 2 122,009,083 (GRCm39) nonsense probably null
Z1176:Trim69 UTSW 2 121,998,035 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCAACAAAACCTTTCCTTGGAG -3'
(R):5'- TTTTCTCCCCAAGGACCTACAAG -3'

Sequencing Primer
(F):5'- CCTTGGAGTTTCTAAAGCTACATCAG -3'
(R):5'- TACAAGCGCTCCAGTTAGTCG -3'
Posted On 2016-07-06