Incidental Mutation 'R5298:Trim45'
ID 405521
Institutional Source Beutler Lab
Gene Symbol Trim45
Ensembl Gene ENSMUSG00000033233
Gene Name tripartite motif-containing 45
Synonyms 4921530N01Rik
MMRRC Submission 042881-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5298 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 100829518-100844236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100832787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 340 (D340G)
Ref Sequence ENSEMBL: ENSMUSP00000102593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037409] [ENSMUST00000094048] [ENSMUST00000106980] [ENSMUST00000134993]
AlphaFold Q6PFY8
Predicted Effect probably damaging
Transcript: ENSMUST00000037409
AA Change: D340G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
AA Change: D340G

DomainStartEndE-ValueType
RING 29 97 5.35e-5 SMART
BBOX 130 176 1.03e-1 SMART
BBOX 186 227 4.34e-5 SMART
BBC 234 360 3.55e-9 SMART
IG_FLMN 398 500 7.63e-33 SMART
low complexity region 532 549 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000094048
AA Change: D291G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091590
Gene: ENSMUSG00000033233
AA Change: D291G

DomainStartEndE-ValueType
BBOX 81 127 1.03e-1 SMART
BBOX 137 178 4.34e-5 SMART
BBC 185 311 3.55e-9 SMART
IG_FLMN 349 451 7.63e-33 SMART
low complexity region 483 500 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106980
AA Change: D340G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
AA Change: D340G

DomainStartEndE-ValueType
RING 29 97 5.35e-5 SMART
BBOX 130 176 1.03e-1 SMART
BBOX 186 227 4.34e-5 SMART
BBC 234 360 3.55e-9 SMART
IG_FLMN 398 500 7.63e-33 SMART
low complexity region 532 549 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000134993
AA Change: D340G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: D340G

DomainStartEndE-ValueType
RING 29 97 5.35e-5 SMART
BBOX 130 176 1.03e-1 SMART
BBOX 186 227 4.34e-5 SMART
BBC 234 360 3.55e-9 SMART
IG_FLMN 398 500 7.63e-33 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,086 (GRCm39) V287A possibly damaging Het
Adat2 A G 10: 13,432,650 (GRCm39) N51D probably benign Het
Alms1-ps1 T C 6: 85,729,100 (GRCm39) noncoding transcript Het
Ccdc97 A G 7: 25,415,432 (GRCm39) V12A probably damaging Het
Cdcp2 T C 4: 106,964,182 (GRCm39) V344A probably benign Het
Clasp1 A G 1: 118,475,650 (GRCm39) D929G possibly damaging Het
Clip4 A G 17: 72,141,220 (GRCm39) N525D probably damaging Het
Csde1 T A 3: 102,954,525 (GRCm39) probably null Het
D330020A13Rik T C 6: 120,271,777 (GRCm39) probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Fuca1 C A 4: 135,664,237 (GRCm39) Y374* probably null Het
Gle1 C G 2: 29,838,955 (GRCm39) P457A probably benign Het
Hadhb T C 5: 30,382,009 (GRCm39) probably null Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lef1 A T 3: 130,988,316 (GRCm39) R294S possibly damaging Het
Lrriq4 G T 3: 30,699,481 (GRCm39) M1I probably null Het
Magi2 T C 5: 20,774,160 (GRCm39) S884P probably damaging Het
Mon2 A G 10: 122,846,511 (GRCm39) I1353T probably benign Het
Or4c127 T A 2: 89,832,804 (GRCm39) L18Q possibly damaging Het
Or5p81 A G 7: 108,267,279 (GRCm39) I219V probably benign Het
Parg C A 14: 31,924,210 (GRCm39) A3E probably damaging Het
Per3 A T 4: 151,113,666 (GRCm39) D297E probably damaging Het
Pkhd1l1 A T 15: 44,367,442 (GRCm39) Y780F probably benign Het
Plcg2 A G 8: 118,331,988 (GRCm39) Y858C probably benign Het
Prkca A T 11: 107,903,510 (GRCm39) N287K probably damaging Het
Qsox2 A C 2: 26,104,074 (GRCm39) S484A probably damaging Het
Reep4 G A 14: 70,785,637 (GRCm39) G225D possibly damaging Het
Scn4a T C 11: 106,230,212 (GRCm39) E532G probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc23a1 A G 18: 35,755,563 (GRCm39) probably null Het
Sowaha C T 11: 53,370,355 (GRCm39) R127Q probably benign Het
Spag9 T C 11: 93,990,961 (GRCm39) W626R probably damaging Het
Tasor2 T C 13: 3,645,613 (GRCm39) probably null Het
Vmn1r193 A T 13: 22,403,725 (GRCm39) F89Y probably damaging Het
Zfp507 T C 7: 35,475,421 (GRCm39) N931D probably damaging Het
Other mutations in Trim45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Trim45 APN 3 100,839,042 (GRCm39) intron probably benign
IGL01472:Trim45 APN 3 100,835,381 (GRCm39) missense probably benign 0.00
IGL01996:Trim45 APN 3 100,835,425 (GRCm39) nonsense probably null 0.00
IGL02392:Trim45 APN 3 100,832,621 (GRCm39) missense probably benign 0.04
IGL03229:Trim45 APN 3 100,830,385 (GRCm39) missense probably damaging 1.00
IGL02837:Trim45 UTSW 3 100,838,943 (GRCm39) intron probably benign
R0021:Trim45 UTSW 3 100,832,736 (GRCm39) missense probably damaging 1.00
R0243:Trim45 UTSW 3 100,837,160 (GRCm39) missense probably benign 0.05
R0501:Trim45 UTSW 3 100,830,535 (GRCm39) missense probably damaging 1.00
R1222:Trim45 UTSW 3 100,834,614 (GRCm39) missense probably benign 0.14
R1418:Trim45 UTSW 3 100,834,614 (GRCm39) missense probably benign 0.14
R1813:Trim45 UTSW 3 100,830,283 (GRCm39) missense probably benign 0.16
R2148:Trim45 UTSW 3 100,839,360 (GRCm39) nonsense probably null
R2383:Trim45 UTSW 3 100,832,543 (GRCm39) missense probably damaging 0.97
R4368:Trim45 UTSW 3 100,830,502 (GRCm39) missense probably damaging 1.00
R4769:Trim45 UTSW 3 100,839,050 (GRCm39) intron probably benign
R4840:Trim45 UTSW 3 100,832,804 (GRCm39) missense possibly damaging 0.95
R5030:Trim45 UTSW 3 100,835,388 (GRCm39) missense probably damaging 1.00
R5272:Trim45 UTSW 3 100,837,235 (GRCm39) missense probably damaging 1.00
R5498:Trim45 UTSW 3 100,832,457 (GRCm39) missense possibly damaging 0.67
R5589:Trim45 UTSW 3 100,837,257 (GRCm39) missense probably damaging 1.00
R6537:Trim45 UTSW 3 100,832,712 (GRCm39) missense probably benign 0.39
R6850:Trim45 UTSW 3 100,830,541 (GRCm39) nonsense probably null
R7009:Trim45 UTSW 3 100,839,195 (GRCm39) intron probably benign
R7122:Trim45 UTSW 3 100,839,353 (GRCm39) missense unknown
R7583:Trim45 UTSW 3 100,832,339 (GRCm39) missense probably damaging 1.00
R8358:Trim45 UTSW 3 100,834,634 (GRCm39) missense probably damaging 0.98
R8368:Trim45 UTSW 3 100,830,672 (GRCm39) missense possibly damaging 0.61
R8924:Trim45 UTSW 3 100,835,394 (GRCm39) missense probably damaging 1.00
R8998:Trim45 UTSW 3 100,838,960 (GRCm39) missense unknown
R8999:Trim45 UTSW 3 100,838,960 (GRCm39) missense unknown
R9069:Trim45 UTSW 3 100,832,440 (GRCm39) nonsense probably null
R9368:Trim45 UTSW 3 100,832,319 (GRCm39) missense possibly damaging 0.51
R9594:Trim45 UTSW 3 100,830,265 (GRCm39) missense probably benign 0.00
R9634:Trim45 UTSW 3 100,839,306 (GRCm39) missense unknown
R9651:Trim45 UTSW 3 100,832,705 (GRCm39) nonsense probably null
X0066:Trim45 UTSW 3 100,839,083 (GRCm39) intron probably benign
Z1088:Trim45 UTSW 3 100,832,956 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TGTGAACAACGCCCTCCAAG -3'
(R):5'- CTTCCTGCGTGTTAATGGCC -3'

Sequencing Primer
(F):5'- GGACATTCTCTGAGGGCTACATC -3'
(R):5'- GCGTGTTAATGGCCCCATACAC -3'
Posted On 2016-07-22