Incidental Mutation 'IGL01925:Trim69'
ID 180258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim69
Ensembl Gene ENSMUSG00000033368
Gene Name tripartite motif-containing 69
Synonyms Rnf36, Trif, 4921519C19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01925
Quality Score
Status
Chromosome 2
Chromosomal Location 121991189-122009503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121998397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 123 (L123Q)
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 damaging
Transcript: ENSMUST00000036089
AA Change: L123Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: L123Q

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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,019,459 (GRCm39) D124G probably damaging Het
Arap3 C T 18: 38,117,299 (GRCm39) V926I probably benign Het
Catspere2 T A 1: 177,842,687 (GRCm39) probably benign Het
Col6a3 C T 1: 90,729,958 (GRCm39) V1176M possibly damaging Het
D5Ertd579e A T 5: 36,771,628 (GRCm39) D922E possibly damaging Het
Dipk2a A C 9: 94,402,509 (GRCm39) D384E probably damaging Het
Epm2a T A 10: 11,324,502 (GRCm39) I197N possibly damaging Het
Faim T G 9: 98,872,972 (GRCm39) probably benign Het
Fkbp15 A G 4: 62,241,450 (GRCm39) I565T probably damaging Het
Fli1 G A 9: 32,377,127 (GRCm39) P47L probably damaging Het
Gli2 T C 1: 118,781,106 (GRCm39) K187R probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hspa5 G A 2: 34,664,730 (GRCm39) V395I probably benign Het
Ide T C 19: 37,255,296 (GRCm39) T836A unknown Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Ints8 C T 4: 11,235,617 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,389,245 (GRCm39) H2060L probably benign Het
Mok T C 12: 110,774,646 (GRCm39) N208S probably benign Het
Morn3 T C 5: 123,184,825 (GRCm39) K5R probably damaging Het
Nalcn C T 14: 123,529,260 (GRCm39) C1405Y possibly damaging Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Ninl A T 2: 150,812,979 (GRCm39) C226S probably damaging Het
Onecut2 T C 18: 64,474,585 (GRCm39) W360R probably damaging Het
Or10al4 A G 17: 38,037,002 (GRCm39) E29G probably benign Het
Or13f5 A G 4: 52,825,910 (GRCm39) N171S probably benign Het
Or1af1 A G 2: 37,110,058 (GRCm39) T186A probably benign Het
Or2d3b T A 7: 106,514,235 (GRCm39) F277I probably damaging Het
Or2w2 T C 13: 21,758,341 (GRCm39) D95G possibly damaging Het
Or51e1 T C 7: 102,359,410 (GRCm39) S315P probably damaging Het
Rai14 A G 15: 10,595,948 (GRCm39) S118P possibly damaging Het
Serpinb7 T C 1: 107,379,399 (GRCm39) S269P probably benign Het
Sesn3 C T 9: 14,231,696 (GRCm39) T209I probably damaging Het
Slit1 T A 19: 41,596,817 (GRCm39) N1094I probably damaging Het
Tep1 C T 14: 51,061,955 (GRCm39) probably benign Het
Top1mt A G 15: 75,528,992 (GRCm39) F584S possibly damaging Het
Trim44 A T 2: 102,230,362 (GRCm39) L223Q probably benign Het
Ubr2 A T 17: 47,265,875 (GRCm39) L1153I possibly damaging Het
Unc13a G A 8: 72,087,187 (GRCm39) T1520I possibly damaging Het
Vmn2r105 A C 17: 20,428,973 (GRCm39) I701S possibly damaging Het
Wrn T C 8: 33,809,208 (GRCm39) T263A probably benign Het
Yeats2 T G 16: 19,998,430 (GRCm39) probably benign Het
Ythdf2 T C 4: 131,938,085 (GRCm39) Y37C probably damaging Het
Zfp169 T C 13: 48,644,239 (GRCm39) probably benign 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
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
R5237:Trim69 UTSW 2 122,003,821 (GRCm39) missense probably benign
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
Posted On 2014-05-07