Incidental Mutation 'R5833:Trim43c'
ID 449411
Institutional Source Beutler Lab
Gene Symbol Trim43c
Ensembl Gene ENSMUSG00000067399
Gene Name tripartite motif-containing 43C
Synonyms Trim43
MMRRC Submission 043221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5833 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 88721217-88730243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88725090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 203 (Q203R)
Ref Sequence ENSEMBL: ENSMUSP00000139715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163255] [ENSMUST00000186363]
AlphaFold P86449
Predicted Effect possibly damaging
Transcript: ENSMUST00000163255
AA Change: Q204R

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129255
Gene: ENSMUSG00000067399
AA Change: Q204R

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 possibly damaging
Transcript: ENSMUST00000186363
AA Change: Q203R

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139715
Gene: ENSMUSG00000067399
AA Change: Q203R

DomainStartEndE-ValueType
RING 16 56 1.6e-8 SMART
SPRY 334 445 6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188156
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 95.7%
  • 20x: 84.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcb4 T C 5: 9,008,314 (GRCm39) Y1161H probably damaging Het
Adcy2 T A 13: 68,886,722 (GRCm39) M276L probably benign Het
Adi1 A G 12: 28,731,041 (GRCm39) D166G probably benign Het
Arhgap44 T G 11: 64,929,503 (GRCm39) E267A probably damaging Het
Arl11 T A 14: 61,548,511 (GRCm39) L107Q probably damaging Het
C1qtnf3 A G 15: 10,975,716 (GRCm39) D247G probably benign Het
C4b T C 17: 34,949,647 (GRCm39) D1481G probably damaging Het
Cacna1a T C 8: 85,245,326 (GRCm39) F242L probably damaging Het
Ccnl1 T C 3: 65,855,922 (GRCm39) K298E probably benign Het
Dcaf5 A G 12: 80,395,203 (GRCm39) V322A probably damaging Het
Ddr2 T C 1: 169,832,265 (GRCm39) N175S probably benign Het
Enox1 T A 14: 77,744,379 (GRCm39) M21K probably benign Het
Fhad1 T C 4: 141,729,838 (GRCm39) D55G probably damaging Het
Gm5157 A G 7: 20,919,318 (GRCm39) M75T possibly damaging Het
Gm6309 A G 5: 146,105,128 (GRCm39) S262P probably damaging Het
Gpnmb T C 6: 49,020,952 (GRCm39) L82P probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Itpripl2 A C 7: 118,089,194 (GRCm39) V455G probably benign Het
Kif16b A G 2: 142,549,287 (GRCm39) V1087A probably benign Het
Med12l A G 3: 59,172,647 (GRCm39) D1801G possibly damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mtmr4 T A 11: 87,495,875 (GRCm39) Y570* probably null Het
Osbpl1a G T 18: 12,921,419 (GRCm39) N128K probably damaging Het
Pcdhb5 T A 18: 37,454,155 (GRCm39) H178Q probably damaging Het
Pdlim1 A T 19: 40,218,989 (GRCm39) F214Y probably damaging Het
Qki A T 17: 10,435,316 (GRCm39) L236H probably damaging Het
Rexo2 G T 9: 48,380,171 (GRCm39) D220E probably benign Het
Rras A G 7: 44,670,715 (GRCm39) E195G possibly damaging Het
Serpinb11 T C 1: 107,305,392 (GRCm39) probably null Het
Sp1 T A 15: 102,339,352 (GRCm39) M430K possibly damaging Het
Tardbp A C 4: 148,702,117 (GRCm39) V86G probably damaging Het
Vmn1r232 A G 17: 21,133,913 (GRCm39) L229P probably damaging 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
R0864: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
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'- CAGTAAATCAGTGTGTGCAGC -3'
(R):5'- GGTGTGGTCCTCAGATAATGAAGC -3'

Sequencing Primer
(F):5'- ATGGGCTCCTGTAGGTGAATTAAAC -3'
(R):5'- GGTCCTCAGATAATGAAGCTCTTTC -3'
Posted On 2016-12-20