Incidental Mutation 'R7988:Trim46'
ID615387
Institutional Source Beutler Lab
Gene Symbol Trim46
Ensembl Gene ENSMUSG00000042766
Gene Nametripartite motif-containing 46
SynonymsTRIFIC
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.769) question?
Stock #R7988 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location89234177-89246309 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89244326 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 50 (H50R)
Ref Sequence ENSEMBL: ENSMUSP00000036053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040888] [ENSMUST00000041022] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000125952] [ENSMUST00000143637] [ENSMUST00000168900]
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: H50R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
AA Change: H50R

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: H37R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766
AA Change: H37R

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: H27R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
AA Change: H27R

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 damaging
Transcript: ENSMUST00000125952
AA Change: H27R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000143637
AA Change: H50R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766
AA Change: H50R

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 probably benign
Transcript: ENSMUST00000168900
SMART Domains Protein: ENSMUSP00000130372
Gene: ENSMUSG00000042747

DomainStartEndE-ValueType
Pfam:Keratin_assoc 1 134 1.2e-61 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik A G 10: 82,296,102 I358T probably benign Het
Actl9 T C 17: 33,433,827 V287A possibly damaging Het
Adcy10 T A 1: 165,513,168 probably null Het
Aox1 G A 1: 58,104,398 S1225N possibly damaging Het
B430306N03Rik T A 17: 48,316,960 S96R probably benign Het
Bpifa5 T C 2: 154,165,588 I150T probably damaging Het
Ccdc28a A T 10: 18,218,328 V181D probably benign Het
Cd40 T C 2: 165,062,325 Y31H probably damaging Het
Cep290 A G 10: 100,554,490 T2032A probably benign Het
Cnbd1 T C 4: 18,907,100 K158R possibly damaging Het
Degs1 A C 1: 182,279,036 N255K possibly damaging Het
Dirc2 G A 16: 35,768,950 P98S probably benign Het
Dll3 T G 7: 28,301,535 I32L possibly damaging Het
Dsg4 A T 18: 20,454,669 I278F probably damaging Het
Ets2 T A 16: 95,706,437 I6N probably damaging Het
Gbp4 A G 5: 105,121,087 F400S probably damaging Het
Golgb1 C T 16: 36,913,685 A1139V probably benign Het
Hfm1 A T 5: 106,898,553 L489H probably damaging Het
Kcna5 T C 6: 126,534,868 D99G probably benign Het
Mief1 C G 15: 80,249,398 P219A probably damaging Het
Myh11 A T 16: 14,207,681 Y1408* probably null Het
Myo1b A G 1: 51,763,884 probably null Het
Nedd4 A T 9: 72,677,379 K121* probably null Het
Nek9 A C 12: 85,305,596 M831R probably damaging Het
Nf1 G A 11: 79,547,112 A83T possibly damaging Het
Olfr772 A T 10: 129,174,187 I278N probably damaging Het
Osbpl10 T C 9: 115,062,010 probably null Het
Pcdhb6 T C 18: 37,334,554 L176P probably benign Het
Plxnb1 G A 9: 109,109,232 V1285M probably damaging Het
Psg26 T A 7: 18,475,317 M389L probably benign Het
Slc4a10 A G 2: 62,268,151 E543G probably damaging Het
Spink7 G T 18: 62,592,416 C85* probably null Het
Stard9 T C 2: 120,696,081 W940R not run Het
Susd2 A T 10: 75,639,657 L471* probably null Het
Taf2 A T 15: 55,047,432 D615E possibly damaging Het
Tfdp2 T C 9: 96,310,606 S14P Het
Tha1 A C 11: 117,871,067 V116G possibly damaging Het
Trit1 A G 4: 123,016,715 K36E probably damaging Het
Ttc13 A T 8: 124,688,596 M268K probably benign Het
Ufc1 T A 1: 171,289,935 K68N probably damaging Het
Zbbx T C 3: 75,085,513 T225A probably benign Het
Zfp768 T C 7: 127,344,659 E102G probably damaging Het
Other mutations in Trim46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Trim46 APN 3 89244418 unclassified probably benign
IGL02082:Trim46 APN 3 89239000 missense probably benign 0.03
IGL02405:Trim46 APN 3 89242485 missense probably benign 0.09
R0107:Trim46 UTSW 3 89236333 missense probably damaging 1.00
R0295:Trim46 UTSW 3 89245113 unclassified probably benign
R0330:Trim46 UTSW 3 89236513 missense probably damaging 1.00
R1303:Trim46 UTSW 3 89242208 missense probably benign 0.03
R1436:Trim46 UTSW 3 89243661 missense probably damaging 1.00
R1458:Trim46 UTSW 3 89235068 unclassified probably null
R1990:Trim46 UTSW 3 89237701 missense probably damaging 1.00
R1991:Trim46 UTSW 3 89237701 missense probably damaging 1.00
R1992:Trim46 UTSW 3 89237701 missense probably damaging 1.00
R2102:Trim46 UTSW 3 89235197 missense probably damaging 1.00
R3729:Trim46 UTSW 3 89234949 missense probably benign
R3730:Trim46 UTSW 3 89234949 missense probably benign
R4603:Trim46 UTSW 3 89243651 missense probably benign 0.11
R6648:Trim46 UTSW 3 89235242 missense possibly damaging 0.88
R6962:Trim46 UTSW 3 89238996 missense probably damaging 1.00
R7761:Trim46 UTSW 3 89242258 missense probably damaging 1.00
R7905:Trim46 UTSW 3 89244326 missense probably damaging 1.00
X0021:Trim46 UTSW 3 89243709 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGACAGACAGATGCCCCTG -3'
(R):5'- AAGCAGTAGGTAGCTTGTGC -3'

Sequencing Primer
(F):5'- GCCCCACCTGACTTAAGGAG -3'
(R):5'- TGTGCTGCCCTTCCTGG -3'
Posted On2019-12-27