Incidental Mutation 'R1960:Trim69'
ID 318009
Institutional Source Beutler Lab
Gene Symbol Trim69
Ensembl Gene ENSMUSG00000033368
Gene Name tripartite motif-containing 69
Synonyms Rnf36, Trif, 4921519C19Rik
MMRRC Submission 039974-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1960 (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 121998165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 46 (N46D)
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: N46D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: N46D

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 0.1085 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (95/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik C T 3: 145,643,976 (GRCm39) P55S probably damaging Het
Adgre4 T C 17: 56,098,497 (GRCm39) S136P probably benign Het
Aoc1l1 C T 6: 48,952,687 (GRCm39) T204I probably damaging Het
Arap1 C A 7: 101,022,222 (GRCm39) A8E probably damaging Het
Arid1a A T 4: 133,480,401 (GRCm39) H174Q possibly damaging Het
Btbd2 A G 10: 80,480,539 (GRCm39) I358T probably benign Het
Camkk2 G A 5: 122,875,575 (GRCm39) R492* probably null Het
Capn3 T C 2: 120,294,421 (GRCm39) V23A probably benign Het
Carm1 T G 9: 21,491,606 (GRCm39) V225G probably benign Het
Ccdc113 T A 8: 96,267,459 (GRCm39) N141K probably benign Het
Ccdc60 C A 5: 116,284,243 (GRCm39) M298I probably benign Het
Celsr3 C T 9: 108,723,016 (GRCm39) P2801L probably benign Het
Clec4n T A 6: 123,207,505 (GRCm39) V23E probably damaging Het
Cmtr2 T G 8: 110,948,382 (GRCm39) L231V probably damaging Het
Csrnp3 T G 2: 65,853,363 (GRCm39) V585G probably null Het
Ctnnd2 T C 15: 30,647,257 (GRCm39) S318P probably damaging Het
Cubn A T 2: 13,344,828 (GRCm39) probably null Het
Dgkd C A 1: 87,857,549 (GRCm39) P754T possibly damaging Het
Dnah7a A G 1: 53,724,142 (GRCm39) S108P probably benign Het
Dnajc24 A G 2: 105,832,268 (GRCm39) probably benign Het
Dner A T 1: 84,423,177 (GRCm39) S475R probably damaging Het
Dtnb T C 12: 3,831,190 (GRCm39) L630P probably benign Het
Dysf T C 6: 84,050,885 (GRCm39) F411L probably benign Het
Fbh1 G A 2: 11,762,339 (GRCm39) A566V probably damaging Het
Fbxw19 G T 9: 109,315,004 (GRCm39) T186K probably benign Het
Flacc1 A T 1: 58,698,437 (GRCm39) V327D possibly damaging Het
Gm4825 A G 15: 85,395,245 (GRCm39) noncoding transcript Het
Grhl2 T A 15: 37,336,558 (GRCm39) V54D probably damaging Het
Hmcn1 T C 1: 150,551,742 (GRCm39) I2621V probably benign Het
Hmcn1 T A 1: 150,553,127 (GRCm39) E2521V possibly damaging Het
Kcng1 A G 2: 168,104,904 (GRCm39) V314A probably benign Het
Kif13a G A 13: 47,018,314 (GRCm39) probably benign Het
Kif21a G A 15: 90,855,051 (GRCm39) A703V probably damaging Het
Kifc1 A G 17: 34,103,561 (GRCm39) probably null Het
Klk13 T A 7: 43,370,431 (GRCm39) N31K possibly damaging Het
Klri1 T A 6: 129,674,347 (GRCm39) H221L probably benign Het
Ltbp4 G A 7: 27,028,443 (GRCm39) P273L unknown Het
Med16 T C 10: 79,742,929 (GRCm39) H14R possibly damaging Het
Mpeg1 G A 19: 12,440,275 (GRCm39) V578M probably damaging Het
Mrgpra2a T A 7: 47,076,983 (GRCm39) I92F probably benign Het
Muc5b T C 7: 141,416,374 (GRCm39) C3107R possibly damaging Het
Myo5a T A 9: 75,055,139 (GRCm39) F441I probably damaging Het
Ndst4 T A 3: 125,232,331 (GRCm39) L300* probably null Het
Nlgn2 G T 11: 69,718,136 (GRCm39) D356E probably damaging Het
Nlrp2 T C 7: 5,330,737 (GRCm39) E553G probably damaging Het
Oas1f G A 5: 120,994,502 (GRCm39) C341Y possibly damaging Het
Olfm5 A T 7: 103,809,619 (GRCm39) C111S possibly damaging Het
Oplah G A 15: 76,181,664 (GRCm39) T1119I probably damaging Het
Or2ag15 T C 7: 106,340,601 (GRCm39) E180G probably damaging Het
Or5d46 T C 2: 88,170,545 (GRCm39) L212P probably damaging Het
Or6c74 C T 10: 129,870,187 (GRCm39) Q231* probably null Het
Or6f2 A T 7: 139,756,596 (GRCm39) I188L probably benign Het
Or8b12c A G 9: 37,715,242 (GRCm39) I12V probably benign Het
Or8g51 T A 9: 38,609,500 (GRCm39) H58L probably benign Het
Pde10a T C 17: 9,161,750 (GRCm39) I477T possibly damaging Het
Pde4b A G 4: 102,454,657 (GRCm39) E108G probably damaging Het
Pdgfrb A T 18: 61,198,855 (GRCm39) T338S probably benign Het
Pgghg A G 7: 140,523,260 (GRCm39) M180V probably benign Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pot1b A T 17: 55,969,531 (GRCm39) Y546N probably damaging Het
Rangap1 T C 15: 81,590,704 (GRCm39) T463A probably benign Het
Rap1gds1 T C 3: 138,756,317 (GRCm39) I13V probably null Het
Rbak A T 5: 143,160,437 (GRCm39) Y205* probably null Het
Reg3b A T 6: 78,348,797 (GRCm39) K31M probably damaging Het
Rfpl4 A T 7: 5,118,533 (GRCm39) Y12* probably null Het
Rnase6 A G 14: 51,367,889 (GRCm39) N94D possibly damaging Het
Rtn4 T C 11: 29,686,464 (GRCm39) L273P probably damaging Het
Ryr3 A C 2: 112,624,812 (GRCm39) F2203V probably damaging Het
Sae1 A T 7: 16,102,490 (GRCm39) D161E possibly damaging Het
Sema5a T C 15: 32,562,877 (GRCm39) F296S possibly damaging Het
Sh3rf1 C A 8: 61,837,897 (GRCm39) P814Q probably damaging Het
Slc22a29 C A 19: 8,146,557 (GRCm39) R415M probably benign Het
Slc25a25 C T 2: 32,310,663 (GRCm39) probably null Het
Slco4c1 T A 1: 96,795,654 (GRCm39) M135L probably benign Het
Slfn1 A G 11: 83,012,579 (GRCm39) I232V possibly damaging Het
Slitrk1 T A 14: 109,149,622 (GRCm39) N363I probably damaging Het
Srr A G 11: 74,799,542 (GRCm39) V311A probably damaging Het
Tasor T C 14: 27,160,621 (GRCm39) S128P probably damaging Het
Tasor C T 14: 27,201,746 (GRCm39) H1419Y possibly damaging Het
Tenm1 T C X: 41,916,078 (GRCm39) D402G probably benign Het
Topors T C 4: 40,261,044 (GRCm39) R747G unknown Het
Trank1 A T 9: 111,220,696 (GRCm39) I2478F probably damaging Het
Trpm1 T A 7: 63,879,978 (GRCm39) L661Q probably damaging Het
Ttbk1 A C 17: 46,791,150 (GRCm39) F45V probably damaging Het
Ttn T C 2: 76,644,649 (GRCm39) K4708R probably damaging Het
Unkl A G 17: 25,428,619 (GRCm39) probably benign Het
Uros A T 7: 133,288,735 (GRCm39) N257K probably benign Het
Usp25 A G 16: 76,873,259 (GRCm39) Y439C probably damaging Het
Vgf A G 5: 137,061,029 (GRCm39) probably benign Het
Vmn2r8 A T 5: 108,947,152 (GRCm39) D533E probably damaging Het
Vps13a A T 19: 16,702,995 (GRCm39) Y653N probably damaging Het
Zfp358 T C 8: 3,545,742 (GRCm39) V135A possibly 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
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
Predicted Primers PCR Primer
(F):5'- TGGGAATGGACTCTATATCCTTGTG -3'
(R):5'- CCTTGAGCAGGGGTAACTTC -3'

Sequencing Primer
(F):5'- ATCCTTGTGTACTGAAATGTGCAG -3'
(R):5'- CCTTGAGCAGGGGTAACTTCTTAATC -3'
Posted On 2015-05-19