Incidental Mutation 'R6450:Trim66'
ID 519350
Institutional Source Beutler Lab
Gene Symbol Trim66
Ensembl Gene ENSMUSG00000031026
Gene Name tripartite motif-containing 66
Synonyms Tif1d, D7H11orf29
MMRRC Submission 044586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6450 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 109048213-109107341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109059945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 814 (R814G)
Ref Sequence ENSEMBL: ENSMUSP00000102352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033339] [ENSMUST00000106739] [ENSMUST00000106741]
AlphaFold Q924W6
Predicted Effect probably benign
Transcript: ENSMUST00000033339
AA Change: R712G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: R712G

DomainStartEndE-ValueType
PHD 4 69 7.77e0 SMART
BBC 108 234 1.61e-39 SMART
low complexity region 318 333 N/A INTRINSIC
low complexity region 452 486 N/A INTRINSIC
low complexity region 517 530 N/A INTRINSIC
low complexity region 568 581 N/A INTRINSIC
PHD 998 1041 4.09e-10 SMART
BROMO 1069 1175 8.22e-27 SMART
low complexity region 1185 1199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106739
AA Change: R712G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: R712G

DomainStartEndE-ValueType
PHD 4 69 7.77e0 SMART
BBC 108 234 1.61e-39 SMART
low complexity region 318 333 N/A INTRINSIC
low complexity region 452 486 N/A INTRINSIC
low complexity region 517 530 N/A INTRINSIC
low complexity region 568 581 N/A INTRINSIC
PHD 998 1041 4.09e-10 SMART
BROMO 1069 1175 8.22e-27 SMART
low complexity region 1185 1199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106741
AA Change: R814G

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: R814G

DomainStartEndE-ValueType
RING 28 78 2.38e-2 SMART
BBOX 102 140 1.48e0 SMART
PHD 106 171 7.77e0 SMART
RING 107 170 4.38e0 SMART
BBOX 162 203 4.21e-3 SMART
BBC 210 336 1.61e-39 SMART
low complexity region 420 435 N/A INTRINSIC
low complexity region 554 588 N/A INTRINSIC
low complexity region 619 632 N/A INTRINSIC
low complexity region 670 683 N/A INTRINSIC
PHD 1100 1143 4.09e-10 SMART
BROMO 1171 1277 8.22e-27 SMART
low complexity region 1287 1301 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.1%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C G 7: 119,815,449 (GRCm39) N232K probably benign Het
Acaca T A 11: 84,171,294 (GRCm39) V5E probably damaging Het
Adam18 A T 8: 25,119,691 (GRCm39) D529E probably benign Het
Adgrb3 T C 1: 25,459,683 (GRCm39) T798A probably benign Het
Alyref T C 11: 120,486,872 (GRCm39) T130A probably benign Het
Arhgap24 A G 5: 103,044,990 (GRCm39) S591G probably benign Het
Carmil1 C T 13: 24,220,547 (GRCm39) G655E probably damaging Het
Cdc42bpg T A 19: 6,364,518 (GRCm39) probably null Het
Clec12a T A 6: 129,330,366 (GRCm39) L48H probably damaging Het
Coq2 C A 5: 100,809,770 (GRCm39) probably benign Het
Crb2 C A 2: 37,683,838 (GRCm39) F1113L possibly damaging Het
Ctla4 A T 1: 60,951,872 (GRCm39) M134L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dync2i1 A T 12: 116,210,347 (GRCm39) Y314* probably null Het
Efhb A G 17: 53,759,632 (GRCm39) V290A possibly damaging Het
Epha8 T C 4: 136,659,210 (GRCm39) N843S probably damaging Het
Eva1a A T 6: 82,069,086 (GRCm39) I138F probably damaging Het
Fat2 T A 11: 55,180,136 (GRCm39) I1402F probably damaging Het
Fat3 A T 9: 15,910,466 (GRCm39) H1845Q possibly damaging Het
Gimap8 T A 6: 48,633,385 (GRCm39) F401L probably benign Het
Gpr162 C T 6: 124,838,152 (GRCm39) R166Q possibly damaging Het
H2ac8 A G 13: 23,755,119 (GRCm39) V55A probably damaging Het
Hdac4 G A 1: 91,912,433 (GRCm39) P348S possibly damaging Het
Hmcn2 T C 2: 31,251,812 (GRCm39) V849A probably benign Het
Inpp5b T A 4: 124,686,045 (GRCm39) N696K probably damaging Het
Kdm5d G T Y: 927,056 (GRCm39) R598L probably damaging Homo
Kidins220 T C 12: 25,107,190 (GRCm39) S1548P probably benign Het
Kif2b C A 11: 91,467,192 (GRCm39) V364L probably damaging Het
Kitl A G 10: 99,923,256 (GRCm39) M1V probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Map6 T C 7: 98,917,245 (GRCm39) I6T probably damaging Het
Mastl T C 2: 23,010,941 (GRCm39) T768A probably damaging Het
Mettl16 T C 11: 74,696,164 (GRCm39) V335A probably benign Het
Mpl T C 4: 118,305,897 (GRCm39) probably null Het
Myo5c C T 9: 75,193,860 (GRCm39) T1205I probably benign Het
Nav2 C A 7: 49,244,114 (GRCm39) L2114I probably damaging Het
Neb T A 2: 52,084,481 (GRCm39) K5330* probably null Het
Nfe2l1 C T 11: 96,718,161 (GRCm39) E125K possibly damaging Het
Onecut3 A G 10: 80,331,922 (GRCm39) K361E probably damaging Het
Or4f47 T A 2: 111,972,725 (GRCm39) L145* probably null Het
Osbpl6 A G 2: 76,395,174 (GRCm39) N370S possibly damaging Het
Otud4 T A 8: 80,399,626 (GRCm39) M780K probably benign Het
P2rx4 A G 5: 122,865,304 (GRCm39) T310A possibly damaging Het
Pcdha11 G T 18: 37,146,215 (GRCm39) D769Y probably damaging Het
Pcgf6 C T 19: 47,037,527 (GRCm39) R124H probably benign Het
Pibf1 T A 14: 99,374,646 (GRCm39) Y362N probably damaging Het
Ppm1g T C 5: 31,360,468 (GRCm39) E422G probably benign Het
Prmt8 T C 6: 127,709,606 (GRCm39) I85V possibly damaging Het
Prss27 A T 17: 24,263,988 (GRCm39) K225* probably null Het
Rai1 A T 11: 60,077,429 (GRCm39) T498S probably benign Het
Sbf2 C A 7: 110,062,070 (GRCm39) G23V probably damaging Het
Sdha C T 13: 74,482,412 (GRCm39) probably null Het
Sgo2a C T 1: 58,042,092 (GRCm39) Q140* probably null Het
Sh3rf3 A G 10: 58,819,966 (GRCm39) D259G probably damaging Het
Slc27a3 C A 3: 90,292,777 (GRCm39) D631Y probably damaging Het
Slc7a10 T C 7: 34,886,015 (GRCm39) S37P possibly damaging Het
Slco6d1 A G 1: 98,349,192 (GRCm39) T88A probably benign Het
Smad4 A T 18: 73,810,817 (GRCm39) S56T possibly damaging Het
Smarcd1 A G 15: 99,605,766 (GRCm39) I346V possibly damaging Het
Spast C T 17: 74,675,835 (GRCm39) P260S probably benign Het
Spata31f1e C A 4: 42,792,489 (GRCm39) G548W probably damaging Het
Sprr2i A T 3: 92,316,017 (GRCm39) probably benign Het
Sptbn5 A G 2: 119,877,616 (GRCm39) probably benign Het
Taar9 A T 10: 23,985,138 (GRCm39) Y99N probably damaging Het
Trappc10 A T 10: 78,045,284 (GRCm39) M468K possibly damaging Het
Tspan31 A G 10: 126,904,227 (GRCm39) C157R probably damaging Het
Vmn2r90 A G 17: 17,953,498 (GRCm39) D554G possibly damaging Het
Vmn2r91 A T 17: 18,305,527 (GRCm39) D70V probably damaging Het
Wdfy4 C T 14: 32,830,649 (GRCm39) G928R probably damaging Het
Zfp346 G T 13: 55,261,517 (GRCm39) K102N probably damaging Het
Zmym4 G A 4: 126,789,099 (GRCm39) P1002S probably damaging Het
Other mutations in Trim66
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Trim66 APN 7 109,054,273 (GRCm39) missense probably benign 0.02
IGL01758:Trim66 APN 7 109,085,252 (GRCm39) critical splice donor site probably null
IGL01982:Trim66 APN 7 109,057,970 (GRCm39) missense probably benign 0.00
IGL01983:Trim66 APN 7 109,057,458 (GRCm39) nonsense probably null
IGL02149:Trim66 APN 7 109,060,109 (GRCm39) missense possibly damaging 0.66
IGL02392:Trim66 APN 7 109,059,481 (GRCm39) missense probably benign 0.01
IGL02483:Trim66 APN 7 109,076,837 (GRCm39) splice site probably benign
IGL02832:Trim66 APN 7 109,059,704 (GRCm39) missense probably damaging 1.00
IGL02945:Trim66 APN 7 109,059,383 (GRCm39) nonsense probably null
IGL03085:Trim66 APN 7 109,057,952 (GRCm39) missense probably benign 0.17
PIT1430001:Trim66 UTSW 7 109,074,454 (GRCm39) missense probably damaging 0.99
R0326:Trim66 UTSW 7 109,059,379 (GRCm39) missense probably benign 0.00
R0358:Trim66 UTSW 7 109,059,383 (GRCm39) nonsense probably null
R0401:Trim66 UTSW 7 109,074,471 (GRCm39) missense probably damaging 0.98
R0470:Trim66 UTSW 7 109,056,749 (GRCm39) splice site probably benign
R0568:Trim66 UTSW 7 109,059,902 (GRCm39) missense probably benign 0.00
R0669:Trim66 UTSW 7 109,054,199 (GRCm39) intron probably benign
R0980:Trim66 UTSW 7 109,054,877 (GRCm39) missense probably damaging 1.00
R1015:Trim66 UTSW 7 109,054,440 (GRCm39) missense probably damaging 1.00
R1078:Trim66 UTSW 7 109,071,526 (GRCm39) missense probably damaging 1.00
R1099:Trim66 UTSW 7 109,074,661 (GRCm39) missense probably benign 0.34
R1181:Trim66 UTSW 7 109,083,784 (GRCm39) critical splice donor site probably null
R1497:Trim66 UTSW 7 109,083,826 (GRCm39) missense probably benign 0.00
R1583:Trim66 UTSW 7 109,054,287 (GRCm39) missense probably damaging 1.00
R1843:Trim66 UTSW 7 109,075,046 (GRCm39) missense probably damaging 0.99
R1998:Trim66 UTSW 7 109,083,784 (GRCm39) critical splice donor site probably null
R2016:Trim66 UTSW 7 109,071,439 (GRCm39) critical splice donor site probably null
R2143:Trim66 UTSW 7 109,074,320 (GRCm39) missense probably damaging 0.98
R2144:Trim66 UTSW 7 109,074,320 (GRCm39) missense probably damaging 0.98
R2145:Trim66 UTSW 7 109,074,320 (GRCm39) missense probably damaging 0.98
R3945:Trim66 UTSW 7 109,071,475 (GRCm39) missense possibly damaging 0.94
R4012:Trim66 UTSW 7 109,057,338 (GRCm39) missense probably damaging 0.98
R4464:Trim66 UTSW 7 109,076,897 (GRCm39) missense possibly damaging 0.51
R4473:Trim66 UTSW 7 109,081,202 (GRCm39) missense probably damaging 1.00
R4729:Trim66 UTSW 7 109,055,267 (GRCm39) critical splice donor site probably null
R4730:Trim66 UTSW 7 109,082,276 (GRCm39) missense probably damaging 1.00
R4775:Trim66 UTSW 7 109,056,796 (GRCm39) nonsense probably null
R4819:Trim66 UTSW 7 109,056,793 (GRCm39) missense probably damaging 1.00
R5269:Trim66 UTSW 7 109,056,797 (GRCm39) missense probably benign 0.00
R5557:Trim66 UTSW 7 109,082,944 (GRCm39) missense probably benign 0.06
R5832:Trim66 UTSW 7 109,054,409 (GRCm39) missense probably damaging 1.00
R6220:Trim66 UTSW 7 109,082,300 (GRCm39) missense probably damaging 0.97
R6243:Trim66 UTSW 7 109,059,481 (GRCm39) missense probably benign 0.01
R6374:Trim66 UTSW 7 109,085,269 (GRCm39) missense probably benign
R6543:Trim66 UTSW 7 109,075,086 (GRCm39) missense probably benign 0.01
R6788:Trim66 UTSW 7 109,076,961 (GRCm39) missense probably damaging 1.00
R6842:Trim66 UTSW 7 109,059,983 (GRCm39) missense probably benign 0.00
R7169:Trim66 UTSW 7 109,054,328 (GRCm39) missense probably benign 0.25
R7257:Trim66 UTSW 7 109,059,451 (GRCm39) missense probably damaging 1.00
R7328:Trim66 UTSW 7 109,056,958 (GRCm39) missense probably damaging 0.99
R7616:Trim66 UTSW 7 109,082,956 (GRCm39) missense probably damaging 0.99
R8423:Trim66 UTSW 7 109,074,599 (GRCm39) missense possibly damaging 0.77
R8855:Trim66 UTSW 7 109,081,188 (GRCm39) missense probably damaging 1.00
R9130:Trim66 UTSW 7 109,076,896 (GRCm39) missense possibly damaging 0.90
R9137:Trim66 UTSW 7 109,074,330 (GRCm39) missense probably damaging 0.99
R9640:Trim66 UTSW 7 109,074,825 (GRCm39) missense probably damaging 1.00
RF013:Trim66 UTSW 7 109,059,960 (GRCm39) missense probably damaging 0.99
RF024:Trim66 UTSW 7 109,059,947 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- TACACAAGGCATTCCCCAGG -3'
(R):5'- CACAGATACACAGGGTGAGC -3'

Sequencing Primer
(F):5'- TGGTACCCAGGCTTTCTGCAG -3'
(R):5'- GGTGAGCAGCCTGACAG -3'
Posted On 2018-05-24