Incidental Mutation 'IGL01907:Trim69'
ID 179709
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 # IGL01907
Quality Score
Status
Chromosome 2
Chromosomal Location 121991189-122009503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121998142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 38 (T38M)
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: T38M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: T38M

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1g1 T C 8: 110,569,975 (GRCm39) probably benign Het
Asph A T 4: 9,514,643 (GRCm39) D491E possibly damaging Het
Cyrib A G 15: 63,803,535 (GRCm39) probably benign Het
D930020B18Rik A G 10: 121,477,915 (GRCm39) N47D probably damaging Het
Gad1 T C 2: 70,404,470 (GRCm39) V120A possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Grin2b T G 6: 135,710,738 (GRCm39) E936A probably damaging Het
Iars1 T C 13: 49,863,131 (GRCm39) F528L probably damaging Het
Iyd C T 10: 3,490,407 (GRCm39) P38S probably damaging Het
Krt24 A G 11: 99,176,030 (GRCm39) F2L unknown Het
Mnat1 T A 12: 73,319,213 (GRCm39) S279T probably benign Het
Mptx1 A T 1: 174,160,212 (GRCm39) I173L probably benign Het
Or9g20 T A 2: 85,629,946 (GRCm39) T223S probably benign Het
Per1 T C 11: 68,996,425 (GRCm39) S810P probably benign Het
Racgap1 T A 15: 99,524,214 (GRCm39) K398* probably null Het
Rnf133 T C 6: 23,649,303 (GRCm39) N209D probably benign Het
Rp1 T C 1: 4,418,730 (GRCm39) E794G possibly damaging Het
Ryr3 A T 2: 112,699,346 (GRCm39) probably benign Het
Slc27a2 A G 2: 126,429,794 (GRCm39) T465A probably benign Het
Smarca2 T C 19: 26,675,865 (GRCm39) M1035T possibly damaging Het
Spink5 A G 18: 44,129,743 (GRCm39) N445D probably damaging Het
Stard3nl G A 13: 19,556,759 (GRCm39) A127V probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp438 G A 18: 5,213,815 (GRCm39) A381V 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
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
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