Incidental Mutation 'R1436:Trim46'
ID 160627
Institutional Source Beutler Lab
Gene Symbol Trim46
Ensembl Gene ENSMUSG00000042766
Gene Name tripartite motif-containing 46
Synonyms TRIFIC
MMRRC Submission 039491-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.695) question?
Stock # R1436 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89141484-89153616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89150968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 198 (F198L)
Ref Sequence ENSEMBL: ENSMUSP00000119270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040888] [ENSMUST00000041022] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000125952] [ENSMUST00000143637] [ENSMUST00000168900]
AlphaFold Q7TNM2
Predicted Effect probably benign
Transcript: ENSMUST00000040888
SMART Domains Protein: ENSMUSP00000043540
Gene: ENSMUSG00000042747

DomainStartEndE-ValueType
Pfam:Keratin_assoc 87 215 2.5e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041022
AA Change: F198L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: F198L

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 damaging
Transcript: ENSMUST00000090924
AA Change: F185L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766
AA Change: F185L

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: F175L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: F175L

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 probably benign
Transcript: ENSMUST00000125952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126691
Predicted Effect probably damaging
Transcript: ENSMUST00000143637
AA Change: F198L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766
AA Change: F198L

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 270 391 4e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139419
Predicted Effect probably benign
Transcript: ENSMUST00000168900
SMART Domains Protein: ENSMUSP00000130372
Gene: ENSMUSG00000042747

DomainStartEndE-ValueType
Pfam:Keratin_assoc 1 134 1.2e-61 PFAM
Meta Mutation Damage Score 0.6762 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 86.8%
Validation Efficiency 94% (65/69)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,172 (GRCm39) F292S probably benign Het
Aadacl2fm3 A T 3: 59,772,760 (GRCm39) D88V probably damaging Het
Abca13 T C 11: 9,242,646 (GRCm39) V1503A probably damaging Het
AI661453 C T 17: 47,777,627 (GRCm39) probably benign Het
Ano2 T C 6: 125,844,134 (GRCm39) probably null Het
Areg G T 5: 91,287,664 (GRCm39) probably benign Het
Atg16l2 A G 7: 100,940,757 (GRCm39) V453A probably damaging Het
BC034090 A G 1: 155,101,662 (GRCm39) S563P probably benign Het
Bhmt-ps1 A G 4: 26,369,591 (GRCm39) noncoding transcript Het
Birc6 C A 17: 74,959,700 (GRCm39) P3855Q probably damaging Het
Cd151 A T 7: 141,049,197 (GRCm39) K8M probably damaging Het
Cd163 T C 6: 124,304,890 (GRCm39) V1089A possibly damaging Het
Chd3 A T 11: 69,248,400 (GRCm39) probably null Het
Cnot6l T A 5: 96,281,971 (GRCm39) E9V probably damaging Het
Col22a1 A G 15: 71,794,806 (GRCm39) probably benign Het
Cyp2c68 A G 19: 39,729,484 (GRCm39) M1T probably null Het
Dbp T C 7: 45,357,879 (GRCm39) V149A probably damaging Het
Dnah10 T C 5: 124,839,285 (GRCm39) V1241A probably benign Het
Galnt10 T C 11: 57,662,295 (GRCm39) S314P probably damaging Het
Glce C T 9: 61,977,292 (GRCm39) probably null Het
Gm5093 C G 17: 46,750,680 (GRCm39) D116H probably damaging Het
Golim4 A G 3: 75,785,951 (GRCm39) probably null Het
Helz2 A T 2: 180,877,317 (GRCm39) I1107N probably damaging Het
Hoxc9 T C 15: 102,890,304 (GRCm39) S74P probably benign Het
Ikbkb T A 8: 23,163,419 (GRCm39) N297I probably benign Het
Il20ra T A 10: 19,625,000 (GRCm39) I93N probably damaging Het
Itch C A 2: 155,034,065 (GRCm39) N412K probably damaging Het
Kcna5 T A 6: 126,511,724 (GRCm39) T135S probably damaging Het
Lncpint G A 6: 31,157,974 (GRCm39) noncoding transcript Het
Lrrc39 A T 3: 116,373,293 (GRCm39) probably null Het
Mad2l1 T A 6: 66,516,797 (GRCm39) V163E possibly damaging Het
Moxd1 C T 10: 24,120,256 (GRCm39) T128M probably damaging Het
Mpeg1 C T 19: 12,439,823 (GRCm39) S427F probably damaging Het
Nckap5 T C 1: 125,953,798 (GRCm39) Y854C possibly damaging Het
Ncln C T 10: 81,325,727 (GRCm39) E373K probably damaging Het
Neurod4 T C 10: 130,106,540 (GRCm39) T245A possibly damaging Het
Nsun5 T C 5: 135,399,067 (GRCm39) L39P probably damaging Het
Or2ad1 G T 13: 21,327,162 (GRCm39) Q22K probably benign Het
Or4c105 A T 2: 88,648,336 (GRCm39) T274S possibly damaging Het
Or4f7 A G 2: 111,644,906 (GRCm39) L55S probably damaging Het
Pde8b T C 13: 95,162,678 (GRCm39) T815A probably benign Het
Pofut2 C T 10: 77,104,398 (GRCm39) R392W probably damaging Het
Ppip5k2 G A 1: 97,639,507 (GRCm39) T1186I probably benign Het
Rhot2 A C 17: 26,060,374 (GRCm39) S277R probably benign Het
Satb1 T G 17: 52,111,391 (GRCm39) probably null Het
Sec31b T C 19: 44,524,634 (GRCm39) I88V probably damaging Het
Selenon T A 4: 134,267,997 (GRCm39) E483V probably damaging Het
Serpinc1 A G 1: 160,820,981 (GRCm39) T22A possibly damaging Het
Sf3a2 G A 10: 80,640,040 (GRCm39) probably benign Het
Sf3b1 A G 1: 55,040,580 (GRCm39) Y561H possibly damaging Het
Smarcc1 T A 9: 109,947,708 (GRCm39) probably benign Het
Stard3nl C T 13: 19,556,819 (GRCm39) R107Q probably damaging Het
Syce1 C T 7: 140,357,593 (GRCm39) R324H possibly damaging Het
Tnk1 G T 11: 69,743,119 (GRCm39) probably benign Het
Trip4 A T 9: 65,788,233 (GRCm39) W71R probably damaging Het
Ubox5 A C 2: 130,439,213 (GRCm39) probably benign Het
Ust G A 10: 8,183,202 (GRCm39) T167M probably damaging Het
Zbtb2 T C 10: 4,318,697 (GRCm39) Q443R probably benign Het
Zfp407 A G 18: 84,361,196 (GRCm39) probably benign 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
R0330:Trim46 UTSW 3 89,143,820 (GRCm39) missense probably damaging 1.00
R1303:Trim46 UTSW 3 89,149,515 (GRCm39) missense probably benign 0.03
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'- CTCTTTAGAACCCCACATGCCAGTC -3'
(R):5'- GTCAGGGGCATCTGTCTGTCATTC -3'

Sequencing Primer
(F):5'- CAGTCATCTCCAACCTCTGG -3'
(R):5'- TACAGGCTTTGGGACATACC -3'
Posted On 2014-03-14