Incidental Mutation 'R1222:Trim45'
ID 152743
Institutional Source Beutler Lab
Gene Symbol Trim45
Ensembl Gene ENSMUSG00000033233
Gene Name tripartite motif-containing 45
Synonyms 4921530N01Rik
MMRRC Submission 039291-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1222 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 100829518-100844236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100834614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 432 (M432I)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037409] [ENSMUST00000094048] [ENSMUST00000106980] [ENSMUST00000134993]
AlphaFold Q6PFY8
Predicted Effect probably benign
Transcript: ENSMUST00000037409
AA Change: M432I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
AA Change: M432I

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 benign
Transcript: ENSMUST00000094048
AA Change: M383I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000091590
Gene: ENSMUSG00000033233
AA Change: M383I

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 benign
Transcript: ENSMUST00000106980
AA Change: M432I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
AA Change: M432I

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 benign
Transcript: ENSMUST00000134993
AA Change: M432I

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: M432I

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
Predicted Effect probably benign
Transcript: ENSMUST00000163914
AA Change: M432I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129861
Gene: ENSMUSG00000033233
AA Change: M432I

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
Meta Mutation Damage Score 0.1312 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 96% (54/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,784,682 (GRCm39) L385* probably null Het
Abca9 T C 11: 110,035,890 (GRCm39) probably benign Het
Abl1 T C 2: 31,691,006 (GRCm39) S842P probably benign Het
Agrn C A 4: 156,261,842 (GRCm39) V483L probably damaging Het
Ankrd13a T A 5: 114,938,824 (GRCm39) C365* probably null Het
Ap2b1 T C 11: 83,237,564 (GRCm39) S543P probably benign Het
Atic C T 1: 71,598,438 (GRCm39) T67I probably damaging Het
Bhmt1b A G 18: 87,775,458 (GRCm39) K327R probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cux1 C T 5: 136,304,003 (GRCm39) R1391Q probably benign Het
Cyp2a4 T C 7: 26,008,013 (GRCm39) V140A possibly damaging Het
Dlgap3 A T 4: 127,088,406 (GRCm39) M1L probably null Het
Dnah3 T C 7: 119,689,899 (GRCm39) D2G probably benign Het
Erbb3 A C 10: 128,407,534 (GRCm39) V938G probably damaging Het
Fam13a C T 6: 58,912,707 (GRCm39) probably benign Het
Gata2 G A 6: 88,177,323 (GRCm39) V118I probably benign Het
Gm2663 T C 6: 40,972,975 (GRCm39) I211V probably benign Het
Izumo3 T A 4: 92,033,284 (GRCm39) N104I probably damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Mctp2 T A 7: 71,908,887 (GRCm39) H142L probably benign Het
Mmp10 T C 9: 7,505,682 (GRCm39) probably benign Het
Mroh8 G A 2: 157,083,774 (GRCm39) probably benign Het
Mylk T C 16: 34,681,022 (GRCm39) V94A probably benign Het
Nol6 A T 4: 41,120,760 (GRCm39) N396K probably benign Het
Nr4a2 A T 2: 56,998,336 (GRCm39) N543K probably damaging Het
Nynrin T C 14: 56,100,998 (GRCm39) S263P probably benign Het
Or10ag53 G T 2: 87,082,766 (GRCm39) G162C probably benign Het
Or1e35 A T 11: 73,798,240 (GRCm39) L26H probably damaging Het
Or5p68 T A 7: 107,945,313 (GRCm39) I292F probably damaging Het
Or7d10 G A 9: 19,832,344 (GRCm39) V280I possibly damaging Het
Pkhd1 T A 1: 20,637,680 (GRCm39) R368S probably benign Het
Plekhg4 G A 8: 106,105,742 (GRCm39) A736T probably benign Het
Plxna2 A G 1: 194,482,957 (GRCm39) D1550G probably damaging Het
Qrfpr C A 3: 36,234,244 (GRCm39) G366W probably damaging Het
Qser1 C A 2: 104,607,776 (GRCm39) A1471S probably damaging Het
Rars1 A T 11: 35,700,567 (GRCm39) Y505N probably damaging Het
Reln T A 5: 22,191,953 (GRCm39) T1496S probably null Het
Rrs1 T C 1: 9,616,080 (GRCm39) L111P probably benign Het
Selplg C T 5: 113,957,434 (GRCm39) V291M possibly damaging Het
Serpinb1c T A 13: 33,080,934 (GRCm39) T50S possibly damaging Het
Slc4a5 A G 6: 83,257,114 (GRCm39) K640E probably damaging Het
Szt2 A T 4: 118,262,656 (GRCm39) H40Q possibly damaging Het
Taar4 C T 10: 23,837,230 (GRCm39) T280I probably benign Het
Tdo2 A G 3: 81,868,775 (GRCm39) probably null Het
Tpp1 T C 7: 105,395,948 (GRCm39) N527S probably benign Het
Trim43c A T 9: 88,725,131 (GRCm39) T218S possibly damaging Het
Ubr4 T C 4: 139,115,782 (GRCm39) probably null Het
Vat1l T C 8: 115,009,101 (GRCm39) probably benign Het
Xpo7 A T 14: 70,904,524 (GRCm39) H1037Q possibly damaging Het
Zmiz1 T C 14: 25,658,520 (GRCm39) probably benign 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
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
R5298:Trim45 UTSW 3 100,832,787 (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'- TCTCACAACAGGGAAGTTGCAAGC -3'
(R):5'- CCTGGTGTCATGGAACCTCACAATG -3'

Sequencing Primer
(F):5'- AGTTCTATGTGATCCCAGAGCAG -3'
(R):5'- ATGAAAGAGTCCATCTATATCTCCC -3'
Posted On 2014-01-29