Incidental Mutation 'R4730:Trim66'
ID 358760
Institutional Source Beutler Lab
Gene Symbol Trim66
Ensembl Gene ENSMUSG00000031026
Gene Name tripartite motif-containing 66
Synonyms Tif1d, D7H11orf29
MMRRC Submission 041990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R4730 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 109048213-109107341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109082276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 226 (S226P)
Ref Sequence ENSEMBL: ENSMUSP00000102352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033339] [ENSMUST00000106739] [ENSMUST00000106741]
AlphaFold Q924W6
Predicted Effect probably damaging
Transcript: ENSMUST00000033339
AA Change: S124P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: S124P

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 damaging
Transcript: ENSMUST00000106739
AA Change: S124P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: S124P

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 damaging
Transcript: ENSMUST00000106741
AA Change: S226P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: S226P

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 0.0887 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,990,939 (GRCm39) Q963R possibly damaging Het
Arhgef28 C T 13: 98,114,650 (GRCm39) E645K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Col4a2 A G 8: 11,487,590 (GRCm39) N964S probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Duox1 T G 2: 122,164,312 (GRCm39) L924R probably damaging Het
Edem2 T C 2: 155,547,618 (GRCm39) E398G possibly damaging Het
Engase A G 11: 118,373,748 (GRCm39) N297D probably damaging Het
Esp4 A C 17: 40,913,445 (GRCm39) Y104S unknown Het
Esp4 C A 17: 40,913,446 (GRCm39) Y104* probably null Het
Fat1 A T 8: 45,486,514 (GRCm39) N3356I probably damaging Het
Gm3867 T A 9: 36,168,550 (GRCm39) noncoding transcript Het
Gm6818 C T 7: 38,101,918 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,762,693 (GRCm39) *175W probably null Het
Gucy1b2 A G 14: 62,645,208 (GRCm39) V617A probably damaging Het
Gzmc C T 14: 56,469,089 (GRCm39) C210Y probably damaging Het
Hmg20a T A 9: 56,374,703 (GRCm39) S20T possibly damaging Het
Hs3st1 A T 5: 39,772,148 (GRCm39) L165* probably null Het
Ighv1-26 A G 12: 114,752,409 (GRCm39) I6T probably benign Het
Kcnk13 A G 12: 100,027,974 (GRCm39) K350E probably damaging Het
Lin9 T A 1: 180,493,416 (GRCm39) L198* probably null Het
Lrfn5 C T 12: 61,887,505 (GRCm39) A431V probably benign Het
Lta C T 17: 35,423,065 (GRCm39) R86Q probably benign Het
Map3k4 T A 17: 12,467,861 (GRCm39) I1058L probably damaging Het
Mtif2 T A 11: 29,490,834 (GRCm39) S513T probably benign Het
Muc4 C T 16: 32,570,032 (GRCm39) T364I possibly damaging Het
Nav1 C A 1: 135,535,049 (GRCm39) probably benign Het
Nfrkb T C 9: 31,321,547 (GRCm39) V748A probably benign Het
Obox6 A T 7: 15,568,738 (GRCm39) M46K possibly damaging Het
Or5g25 T C 2: 85,478,336 (GRCm39) T110A probably benign Het
Or5k1b T C 16: 58,581,105 (GRCm39) I145V probably benign Het
Or5t17 C T 2: 86,832,510 (GRCm39) R66W possibly damaging Het
Or6c33 G A 10: 129,853,416 (GRCm39) R62Q probably damaging Het
Or9g19 G T 2: 85,600,405 (GRCm39) E87* probably null Het
P4htm A G 9: 108,456,971 (GRCm39) V412A possibly damaging Het
Phb2 T C 6: 124,690,086 (GRCm39) S92P probably damaging Het
Phtf1 G T 3: 103,894,751 (GRCm39) R147L probably damaging Het
Pigk C T 3: 152,448,203 (GRCm39) Q189* probably null Het
Plxnc1 G A 10: 94,703,330 (GRCm39) probably benign Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Ptprg G A 14: 12,213,713 (GRCm38) G252D probably damaging Het
Rnf4 G T 5: 34,508,147 (GRCm39) V134F possibly damaging Het
Scarf2 A G 16: 17,620,877 (GRCm39) T182A probably damaging Het
Setd1a A G 7: 127,396,502 (GRCm39) probably benign Het
Sgpp1 A G 12: 75,781,713 (GRCm39) F209L probably benign Het
Sh3d19 T A 3: 86,024,171 (GRCm39) S567T possibly damaging Het
Slc4a2 C T 5: 24,639,878 (GRCm39) R520W probably damaging Het
Slf1 T C 13: 77,194,751 (GRCm39) Q858R probably damaging Het
Slitrk3 G T 3: 72,956,852 (GRCm39) A640E probably benign Het
Smarca2 A G 19: 26,608,073 (GRCm39) Y44C probably damaging Het
Spon1 A G 7: 113,632,306 (GRCm39) E543G possibly damaging Het
Strn4 A G 7: 16,562,719 (GRCm39) Q286R possibly damaging Het
Suz12 T C 11: 79,892,988 (GRCm39) probably benign Het
Syna T A 5: 134,587,440 (GRCm39) E503V probably damaging Het
Syt14 C T 1: 192,613,094 (GRCm39) D569N probably damaging Het
Sytl2 A G 7: 90,030,457 (GRCm39) probably benign Het
Tmprss11g G T 5: 86,637,091 (GRCm39) S335* probably null Het
Tmprss11g A T 5: 86,637,092 (GRCm39) S335T probably damaging Het
Tubgcp3 T C 8: 12,707,654 (GRCm39) T112A probably benign Het
Ulk4 T C 9: 121,092,791 (GRCm39) S149G probably benign Het
Usp53 T C 3: 122,756,582 (GRCm39) D108G probably null Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly 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
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
R6450:Trim66 UTSW 7 109,059,945 (GRCm39) missense probably benign 0.09
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'- GATCGTCCTGAACTAGCCTG -3'
(R):5'- TCAGCAGTGTCTTTGGCTCAG -3'

Sequencing Primer
(F):5'- TGGCGCCAGTCACTGAGAG -3'
(R):5'- TGGTCCTGGCCTCTGAG -3'
Posted On 2015-11-11