Incidental Mutation 'R0330:Trim46'
ID 25981
Institutional Source Beutler Lab
Gene Symbol Trim46
Ensembl Gene ENSMUSG00000042766
Gene Name tripartite motif-containing 46
Synonyms TRIFIC
MMRRC Submission 038539-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.695) question?
Stock # R0330 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89141484-89153616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89143820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 536 (P536Q)
Ref Sequence ENSEMBL: ENSMUSP00000103088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041022] [ENSMUST00000041142] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000143637]
AlphaFold Q7TNM2
Predicted Effect probably damaging
Transcript: ENSMUST00000041022
AA Change: P559Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: P559Q

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 271 395 3e-13 BLAST
FN3 430 515 2.03e-2 SMART
low complexity region 561 571 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041142
SMART Domains Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 30 46 N/A INTRINSIC
internal_repeat_2 48 106 4.93e-6 PROSPERO
internal_repeat_1 79 151 3.46e-38 PROSPERO
low complexity region 153 181 N/A INTRINSIC
internal_repeat_1 183 254 3.46e-38 PROSPERO
internal_repeat_2 192 259 4.93e-6 PROSPERO
low complexity region 277 292 N/A INTRINSIC
low complexity region 296 307 N/A INTRINSIC
low complexity region 370 381 N/A INTRINSIC
low complexity region 382 400 N/A INTRINSIC
SEA 412 528 6.2e-43 SMART
low complexity region 537 552 N/A INTRINSIC
Blast:SEA 557 624 2e-36 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000090924
SMART Domains Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 20 120 1.92e-6 SMART
BBOX 209 250 9.59e-7 SMART
Blast:BBC 258 382 8e-13 BLAST
FN3 417 502 2.03e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107464
AA Change: P536Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: P536Q

DomainStartEndE-ValueType
RING 10 110 1.92e-6 SMART
BBOX 199 240 9.59e-7 SMART
Blast:BBC 248 372 2e-13 BLAST
FN3 407 492 2.03e-2 SMART
low complexity region 538 548 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146844
Predicted Effect probably benign
Transcript: ENSMUST00000143637
SMART Domains Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 270 391 4e-11 BLAST
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,038 (GRCm39) N120S probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
AI661453 G A 17: 47,757,571 (GRCm39) R76Q probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arhgap12 T A 18: 6,039,382 (GRCm39) D455V probably damaging Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Arhgef12 A C 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Arhgef2 A G 3: 88,549,808 (GRCm39) H592R probably damaging Het
BC049715 A G 6: 136,817,035 (GRCm39) T92A possibly damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Capn8 T A 1: 182,457,703 (GRCm39) I689N probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cep57 G A 9: 13,728,281 (GRCm39) R148W probably damaging Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Chd3 T G 11: 69,247,159 (GRCm39) D1003A probably damaging Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cldn13 A G 5: 134,944,176 (GRCm39) V3A probably benign Het
Col17a1 T C 19: 47,658,871 (GRCm39) T413A probably benign Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fanca A T 8: 124,000,911 (GRCm39) C1156* probably null Het
Flot2 T A 11: 77,949,784 (GRCm39) I322N possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Gtf2i T C 5: 134,280,740 (GRCm39) E518G probably damaging Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Impg2 A G 16: 56,072,627 (GRCm39) Y353C probably damaging Het
Kank1 A G 19: 25,401,677 (GRCm39) K1095E probably benign Het
Kcnh4 C T 11: 100,648,569 (GRCm39) C45Y probably damaging Het
Kif13b A G 14: 65,040,669 (GRCm39) T1590A probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrp1b A T 2: 40,591,773 (GRCm39) C73* probably null Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Med12l A G 3: 59,135,123 (GRCm39) E757G probably damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myof A C 19: 37,924,326 (GRCm39) I1297S probably damaging Het
Nacad A G 11: 6,550,903 (GRCm39) S763P probably benign Het
Nbea A G 3: 55,550,238 (GRCm39) V2730A probably benign Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Optn A T 2: 5,039,066 (GRCm39) N352K possibly damaging Het
Or10k2 A G 8: 84,268,142 (GRCm39) Y123C probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7g16 A G 9: 18,726,937 (GRCm39) Y218H probably damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Plaat5 T A 19: 7,614,663 (GRCm39) probably null Het
Plb1 T A 5: 32,512,701 (GRCm39) F1353Y probably damaging Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pygo2 T A 3: 89,340,461 (GRCm39) N286K possibly damaging Het
Rttn G A 18: 89,004,204 (GRCm39) probably null Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Sidt2 A G 9: 45,866,200 (GRCm39) I2T probably benign Het
Slc12a3 A T 8: 95,072,974 (GRCm39) N699I possibly damaging Het
Slc25a30 G A 14: 76,000,112 (GRCm39) Q285* probably null Het
Slc4a9 A T 18: 36,668,592 (GRCm39) H724L probably damaging Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stac3 C A 10: 127,343,616 (GRCm39) probably null Het
Stk32a A G 18: 43,446,566 (GRCm39) K339E probably benign Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tbc1d16 A G 11: 119,049,555 (GRCm39) probably null Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Trappc12 A G 12: 28,797,259 (GRCm39) V91A probably benign Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Vps4a A C 8: 107,769,698 (GRCm39) I336L probably benign Het
Xylb T C 9: 119,210,653 (GRCm39) S379P probably damaging Het
Zbtb37 T C 1: 160,860,066 (GRCm39) T80A probably benign Het
Zfhx3 A G 8: 109,675,589 (GRCm39) D2213G probably damaging Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging Het
Zfp804b A T 5: 6,821,029 (GRCm39) I642N possibly damaging Het
Zfp804b A T 5: 6,821,994 (GRCm39) N356K possibly damaging Het
Other mutations in Trim46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Trim46 APN 3 89,151,725 (GRCm39) unclassified probably benign
IGL02082:Trim46 APN 3 89,146,307 (GRCm39) missense probably benign 0.03
IGL02405:Trim46 APN 3 89,149,792 (GRCm39) missense probably benign 0.09
hippocampus UTSW 3 89,153,020 (GRCm39) critical splice donor site probably null
R0107:Trim46 UTSW 3 89,143,640 (GRCm39) missense probably damaging 1.00
R0295:Trim46 UTSW 3 89,152,420 (GRCm39) unclassified probably benign
R1303:Trim46 UTSW 3 89,149,515 (GRCm39) missense probably benign 0.03
R1436:Trim46 UTSW 3 89,150,968 (GRCm39) missense probably damaging 1.00
R1458:Trim46 UTSW 3 89,142,375 (GRCm39) splice site probably null
R1990:Trim46 UTSW 3 89,145,008 (GRCm39) missense probably damaging 1.00
R1991:Trim46 UTSW 3 89,145,008 (GRCm39) missense probably damaging 1.00
R1992:Trim46 UTSW 3 89,145,008 (GRCm39) missense probably damaging 1.00
R2102:Trim46 UTSW 3 89,142,504 (GRCm39) missense probably damaging 1.00
R3729:Trim46 UTSW 3 89,142,256 (GRCm39) missense probably benign
R3730:Trim46 UTSW 3 89,142,256 (GRCm39) missense probably benign
R4603:Trim46 UTSW 3 89,150,958 (GRCm39) missense probably benign 0.11
R6648:Trim46 UTSW 3 89,142,549 (GRCm39) missense possibly damaging 0.88
R6962:Trim46 UTSW 3 89,146,303 (GRCm39) missense probably damaging 1.00
R7761:Trim46 UTSW 3 89,149,565 (GRCm39) missense probably damaging 1.00
R7905:Trim46 UTSW 3 89,151,633 (GRCm39) missense probably damaging 1.00
R8228:Trim46 UTSW 3 89,142,255 (GRCm39) missense probably benign
R8307:Trim46 UTSW 3 89,151,223 (GRCm39) missense probably benign 0.12
R8509:Trim46 UTSW 3 89,153,020 (GRCm39) critical splice donor site probably null
R8958:Trim46 UTSW 3 89,143,760 (GRCm39) missense probably damaging 1.00
R8992:Trim46 UTSW 3 89,143,692 (GRCm39) missense probably damaging 1.00
R9208:Trim46 UTSW 3 89,142,466 (GRCm39) missense possibly damaging 0.73
R9786:Trim46 UTSW 3 89,142,399 (GRCm39) missense probably damaging 1.00
X0021:Trim46 UTSW 3 89,151,016 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCCCACCTACGAAAGTCTGGAG -3'
(R):5'- TCCCAGTGTTTGTGCTGACACC -3'

Sequencing Primer
(F):5'- TCTTGCAGAAGGGCCTGAC -3'
(R):5'- TGTGCTGACACCCCACAG -3'
Posted On 2013-04-16