Incidental Mutation 'R7660:Trim67'
ID 591517
Institutional Source Beutler Lab
Gene Symbol Trim67
Ensembl Gene ENSMUSG00000036913
Gene Name tripartite motif-containing 67
Synonyms D130049O21Rik
MMRRC Submission 045735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7660 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 125519831-125561452 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125547024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 478 (L478Q)
Ref Sequence ENSEMBL: ENSMUSP00000040601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041106] [ENSMUST00000167588] [ENSMUST00000211867]
AlphaFold Q505D9
Predicted Effect probably damaging
Transcript: ENSMUST00000041106
AA Change: L478Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040601
Gene: ENSMUSG00000036913
AA Change: L478Q

DomainStartEndE-ValueType
RING 7 157 1.41e-4 SMART
BBOX 198 248 4.65e-5 SMART
BBOX 285 327 3.04e-9 SMART
BBC 334 460 1.18e-28 SMART
FN3 498 579 1.75e-6 SMART
Pfam:SPRY 635 755 1.3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167588
AA Change: L478Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130343
Gene: ENSMUSG00000036913
AA Change: L478Q

DomainStartEndE-ValueType
RING 7 157 1.41e-4 SMART
BBOX 198 248 4.65e-5 SMART
BBOX 285 327 3.04e-9 SMART
BBC 334 460 1.18e-28 SMART
FN3 498 579 1.75e-6 SMART
Pfam:SPRY 633 756 3.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211867
AA Change: L478Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,512 (GRCm39) H142L possibly damaging Het
Aadacl2fm3 A G 3: 59,772,689 (GRCm39) I64M probably benign Het
Abca13 A G 11: 9,240,678 (GRCm39) E847G probably benign Het
Abca9 T A 11: 110,006,278 (GRCm39) T1276S probably benign Het
Abcb11 C T 2: 69,117,938 (GRCm39) probably null Het
Alpk1 G C 3: 127,474,616 (GRCm39) H462Q probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atm C T 9: 53,356,807 (GRCm39) V2815M probably benign Het
Braf T C 6: 39,600,575 (GRCm39) I681V possibly damaging Het
Casc3 C G 11: 98,700,699 (GRCm39) R4G unknown Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Crybg1 T C 10: 43,874,831 (GRCm39) D759G probably damaging Het
Csrp2 A G 10: 110,773,624 (GRCm39) N103S probably benign Het
Faf1 A T 4: 109,719,034 (GRCm39) H380L probably damaging Het
Farp1 G A 14: 121,514,334 (GRCm39) A888T probably benign Het
Fat4 A T 3: 39,035,309 (GRCm39) Q2987L probably benign Het
Fkbp15 T A 4: 62,232,578 (GRCm39) T665S probably benign Het
Gigyf1 T C 5: 137,519,231 (GRCm39) S343P probably benign Het
Glrx3 A G 7: 137,060,954 (GRCm39) Y196C probably damaging Het
Gm3278 T G 14: 16,080,387 (GRCm39) L66R probably damaging Het
Ifi205 A G 1: 173,855,814 (GRCm39) V72A probably benign Het
Ift140 T G 17: 25,270,798 (GRCm39) L708R probably damaging Het
Ints13 A T 6: 146,458,836 (GRCm39) L328M probably benign Het
Itfg2 A G 6: 128,401,709 (GRCm39) I23T probably damaging Het
Ldha C T 7: 46,499,681 (GRCm39) P100S unknown Het
Lmtk2 T A 5: 144,085,158 (GRCm39) L210H probably damaging Het
Lrrc4 T A 6: 28,829,816 (GRCm39) I600L probably benign Het
Map2 C A 1: 66,453,536 (GRCm39) P809T probably damaging Het
Matn2 T A 15: 34,423,874 (GRCm39) C577* probably null Het
Matn2 A G 15: 34,403,092 (GRCm39) K439R probably benign Het
Mep1a C T 17: 43,789,868 (GRCm39) G494S probably benign Het
Mtmr4 T C 11: 87,495,406 (GRCm39) F488L probably damaging Het
Mtus1 G T 8: 41,469,248 (GRCm39) T8K probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mybpc1 T C 10: 88,384,716 (GRCm39) T523A possibly damaging Het
Ncoa3 C T 2: 165,911,241 (GRCm39) P1334S probably benign Het
Neb T G 2: 52,139,451 (GRCm39) M119L Het
Nox4 T C 7: 87,019,230 (GRCm39) Y408H probably damaging Het
Nxpe3 C T 16: 55,664,690 (GRCm39) R510Q probably damaging Het
Or4c58 T C 2: 89,674,787 (GRCm39) T177A probably benign Het
Or4f52 C T 2: 111,061,960 (GRCm39) M59I probably damaging Het
Or5p60 A G 7: 107,724,041 (GRCm39) V143A probably benign Het
Or6c214 C A 10: 129,590,432 (GRCm39) E296* probably null Het
Or7g23 T C 9: 19,086,804 (GRCm39) H56R probably benign Het
Or8k31-ps1 A T 2: 86,356,174 (GRCm39) S116T possibly damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pax8 T C 2: 24,326,573 (GRCm39) Y263C probably benign Het
Pcdha11 T A 18: 37,138,904 (GRCm39) Y178N probably benign Het
Pcdhga11 C T 18: 37,890,183 (GRCm39) T397M possibly damaging Het
Pdlim5 G T 3: 141,964,946 (GRCm39) H428N probably damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Rgs3 A G 4: 62,619,349 (GRCm39) D478G possibly damaging Het
Scgb2b11 C T 7: 31,909,883 (GRCm39) E68K probably damaging Het
Sema4b C A 7: 79,869,995 (GRCm39) Q428K probably benign Het
Semp2l2a A T 8: 13,887,995 (GRCm39) I32K probably benign Het
Serpine2 T C 1: 79,780,622 (GRCm39) T276A probably benign Het
Sgo2b G A 8: 64,393,108 (GRCm39) H110Y probably benign Het
Slc12a7 T C 13: 73,954,208 (GRCm39) L833S probably benign Het
Slc6a15 T A 10: 103,229,241 (GRCm39) probably null Het
Srfbp1 G A 18: 52,608,671 (GRCm39) V24I probably damaging Het
Stpg2 A T 3: 139,407,458 (GRCm39) N537Y probably damaging Het
Svep1 A T 4: 58,087,782 (GRCm39) S1766T probably benign Het
Tiam2 T A 17: 3,532,880 (GRCm39) M1K probably null Het
Tmem245 A T 4: 56,899,170 (GRCm39) I661K possibly damaging Het
Trim5 T C 7: 103,928,569 (GRCm39) H124R probably damaging Het
Triml2 A G 8: 43,646,357 (GRCm39) D282G probably damaging Het
Txndc11 T C 16: 10,905,793 (GRCm39) Y579C probably damaging Het
Ube3c T A 5: 29,824,629 (GRCm39) D551E probably damaging Het
Vmn1r194 T C 13: 22,428,767 (GRCm39) V128A not run Het
Vmn2r130 T A 17: 23,296,006 (GRCm39) D725E probably damaging Het
Vmn2r70 T G 7: 85,218,130 (GRCm39) N56T probably damaging Het
Wdr95 T C 5: 149,517,945 (GRCm39) V501A possibly damaging Het
Zc3h8 T C 2: 128,772,742 (GRCm39) T249A probably damaging Het
Zfp54 T C 17: 21,654,501 (GRCm39) C332R probably damaging Het
Other mutations in Trim67
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Trim67 APN 8 125,541,799 (GRCm39) splice site probably benign
IGL01676:Trim67 APN 8 125,541,899 (GRCm39) missense possibly damaging 0.51
IGL01779:Trim67 APN 8 125,554,860 (GRCm39) missense probably damaging 1.00
IGL02057:Trim67 APN 8 125,549,869 (GRCm39) missense probably benign 0.00
IGL02201:Trim67 APN 8 125,520,797 (GRCm39) missense probably benign 0.26
IGL02304:Trim67 APN 8 125,552,691 (GRCm39) missense probably damaging 1.00
R0068:Trim67 UTSW 8 125,521,307 (GRCm39) missense probably damaging 0.97
R0241:Trim67 UTSW 8 125,549,929 (GRCm39) missense probably damaging 0.99
R0319:Trim67 UTSW 8 125,549,966 (GRCm39) missense probably damaging 0.98
R0471:Trim67 UTSW 8 125,521,397 (GRCm39) missense probably benign 0.01
R1171:Trim67 UTSW 8 125,555,820 (GRCm39) missense probably damaging 0.97
R1175:Trim67 UTSW 8 125,543,774 (GRCm39) missense probably damaging 0.99
R1444:Trim67 UTSW 8 125,549,932 (GRCm39) missense probably benign 0.01
R1596:Trim67 UTSW 8 125,552,878 (GRCm39) missense probably damaging 0.97
R1706:Trim67 UTSW 8 125,521,160 (GRCm39) missense probably damaging 1.00
R4951:Trim67 UTSW 8 125,521,406 (GRCm39) missense probably benign
R5200:Trim67 UTSW 8 125,551,589 (GRCm39) missense probably damaging 0.99
R5787:Trim67 UTSW 8 125,521,051 (GRCm39) nonsense probably null
R6023:Trim67 UTSW 8 125,541,843 (GRCm39) missense probably damaging 0.99
R6290:Trim67 UTSW 8 125,549,918 (GRCm39) missense probably benign 0.00
R6536:Trim67 UTSW 8 125,521,081 (GRCm39) missense possibly damaging 0.51
R7315:Trim67 UTSW 8 125,521,069 (GRCm39) missense probably benign 0.18
R8432:Trim67 UTSW 8 125,520,801 (GRCm39) small deletion probably benign
R8446:Trim67 UTSW 8 125,520,730 (GRCm39) missense probably damaging 0.99
R8713:Trim67 UTSW 8 125,547,074 (GRCm39) missense probably null 0.06
R8897:Trim67 UTSW 8 125,552,718 (GRCm39) missense probably benign
R9322:Trim67 UTSW 8 125,549,967 (GRCm39) nonsense probably null
R9430:Trim67 UTSW 8 125,552,956 (GRCm39) missense probably damaging 0.98
R9542:Trim67 UTSW 8 125,521,497 (GRCm39) missense possibly damaging 0.84
Z1088:Trim67 UTSW 8 125,543,780 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGACAAAGCTGAGCCCTTC -3'
(R):5'- AAAGGCAGCTCAAGTTCAGC -3'

Sequencing Primer
(F):5'- TTCCCCAAAAAGGCTGGCAG -3'
(R):5'- GGTTAGGACCTAGGATCCTTATCC -3'
Posted On 2019-11-12