Incidental Mutation 'R0864:Trim43c'
ID 82254
Institutional Source Beutler Lab
Gene Symbol Trim43c
Ensembl Gene ENSMUSG00000067399
Gene Name tripartite motif-containing 43C
Synonyms Trim43
MMRRC Submission 039038-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0864 (G1)
Quality Score 200
Status Validated
Chromosome 9
Chromosomal Location 88721217-88730243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88725087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 202 (H202L)
Ref Sequence ENSEMBL: ENSMUSP00000139715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163255] [ENSMUST00000186363]
AlphaFold P86449
Predicted Effect probably benign
Transcript: ENSMUST00000163255
AA Change: H203L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129255
Gene: ENSMUSG00000067399
AA Change: H203L

DomainStartEndE-ValueType
RING 16 56 3.34e-6 SMART
PDB:2IWG|E 329 446 3e-15 PDB
Blast:SPRY 336 441 3e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180783
Predicted Effect probably benign
Transcript: ENSMUST00000186363
AA Change: H202L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139715
Gene: ENSMUSG00000067399
AA Change: H202L

DomainStartEndE-ValueType
RING 16 56 1.6e-8 SMART
SPRY 334 445 6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188156
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 97.3%
  • 20x: 93.8%
Validation Efficiency 93% (39/42)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,784,798 (GRCm39) probably benign Het
Alx4 A G 2: 93,473,200 (GRCm39) Y66C probably damaging Het
Apol7e T A 15: 77,601,993 (GRCm39) V197E probably damaging Het
Chac1 C A 2: 119,183,950 (GRCm39) A184E probably damaging Het
Clmn G A 12: 104,756,274 (GRCm39) T192I possibly damaging Het
Csmd1 T A 8: 16,240,040 (GRCm39) Y1124F probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
D430041D05Rik G A 2: 104,060,773 (GRCm39) P1374S possibly damaging Het
Dyrk4 T C 6: 126,854,296 (GRCm39) E499G possibly damaging Het
Fat1 T A 8: 45,471,074 (GRCm39) I1603N probably damaging Het
Fbn1 A T 2: 125,184,811 (GRCm39) C1660* probably null Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Hpn T C 7: 30,808,426 (GRCm39) I41V probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Map4 A G 9: 109,808,037 (GRCm39) Y34C probably damaging Het
Mapk8 C T 14: 33,114,949 (GRCm39) R189H probably damaging Het
Mprip T C 11: 59,649,587 (GRCm39) V1097A probably benign Het
Msh2 A G 17: 87,987,480 (GRCm39) T207A probably benign Het
Muc4 A G 16: 32,570,820 (GRCm39) S627G probably benign Het
Nbeal2 G A 9: 110,457,263 (GRCm39) T2266I probably damaging Het
Pdcd6ip A T 9: 113,503,578 (GRCm39) probably benign Het
Pdk2 A G 11: 94,918,759 (GRCm39) Y339H probably damaging Het
Piwil2 T C 14: 70,632,823 (GRCm39) D583G probably benign Het
Plin4 T A 17: 56,410,966 (GRCm39) M1022L probably benign Het
Pmpca G A 2: 26,283,221 (GRCm39) probably null Het
Rbbp4 G T 4: 129,214,344 (GRCm39) probably benign Het
Rbbp8 G A 18: 11,865,241 (GRCm39) probably benign Het
Rbms3 A T 9: 117,458,860 (GRCm39) probably benign Het
Snx14 A T 9: 88,266,049 (GRCm39) S726T possibly damaging Het
Supt4a T A 11: 87,633,913 (GRCm39) S88T probably benign Het
Tmem245 G T 4: 56,890,837 (GRCm39) H321Q probably damaging Het
Trip12 A G 1: 84,721,730 (GRCm39) F1334S probably damaging Het
Vmn1r36 T C 6: 66,693,840 (GRCm39) T12A probably null Het
Ywhae T G 11: 75,650,256 (GRCm39) probably null Het
Zc3h4 T A 7: 16,154,104 (GRCm39) S131T probably damaging Het
Zfp280b C T 10: 75,874,139 (GRCm39) T6M probably benign Het
Other mutations in Trim43c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Trim43c APN 9 88,723,909 (GRCm39) missense probably benign 0.20
IGL02414:Trim43c APN 9 88,723,885 (GRCm39) critical splice acceptor site probably null
R0054:Trim43c UTSW 9 88,729,568 (GRCm39) missense probably damaging 1.00
R0765:Trim43c UTSW 9 88,723,969 (GRCm39) missense probably benign 0.28
R0862:Trim43c UTSW 9 88,725,087 (GRCm39) missense probably benign 0.01
R1117:Trim43c UTSW 9 88,727,030 (GRCm39) missense probably benign 0.20
R1222:Trim43c UTSW 9 88,725,131 (GRCm39) missense possibly damaging 0.70
R1643:Trim43c UTSW 9 88,729,530 (GRCm39) missense probably damaging 0.97
R1691:Trim43c UTSW 9 88,722,752 (GRCm39) missense probably damaging 0.98
R1914:Trim43c UTSW 9 88,722,670 (GRCm39) missense probably benign 0.01
R3718:Trim43c UTSW 9 88,727,030 (GRCm39) missense probably benign 0.20
R3772:Trim43c UTSW 9 88,729,810 (GRCm39) missense probably damaging 1.00
R3852:Trim43c UTSW 9 88,722,454 (GRCm39) missense probably damaging 1.00
R4774:Trim43c UTSW 9 88,729,705 (GRCm39) missense possibly damaging 0.48
R5784:Trim43c UTSW 9 88,729,696 (GRCm39) missense probably benign 0.03
R5833:Trim43c UTSW 9 88,725,090 (GRCm39) missense possibly damaging 0.74
R6177:Trim43c UTSW 9 88,722,600 (GRCm39) missense possibly damaging 0.50
R6407:Trim43c UTSW 9 88,722,467 (GRCm39) missense probably benign
R6490:Trim43c UTSW 9 88,727,003 (GRCm39) missense possibly damaging 0.50
R6892:Trim43c UTSW 9 88,726,977 (GRCm39) missense probably benign 0.35
R8050:Trim43c UTSW 9 88,722,390 (GRCm39) missense probably damaging 0.99
R8417:Trim43c UTSW 9 88,725,191 (GRCm39) missense probably benign 0.20
R9276:Trim43c UTSW 9 88,723,966 (GRCm39) missense probably benign
Z1088:Trim43c UTSW 9 88,724,988 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCAGTGTGTGCAGCACTCTGATG -3'
(R):5'- AAAAGCCACAGGTGTGGTCCTC -3'

Sequencing Primer
(F):5'- AGCACTCTGATGGGCTCC -3'
(R):5'- GTGGTCCTCAGATAATGAAGCTC -3'
Posted On 2013-11-08