Incidental Mutation 'R5030:Trim45'
ID 391604
Institutional Source Beutler Lab
Gene Symbol Trim45
Ensembl Gene ENSMUSG00000033233
Gene Name tripartite motif-containing 45
Synonyms 4921530N01Rik
MMRRC Submission 042621-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5030 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 100829518-100844236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 100835388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 457 (V457G)
Ref Sequence ENSEMBL: ENSMUSP00000115669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037409] [ENSMUST00000094048] [ENSMUST00000106980] [ENSMUST00000134993]
AlphaFold Q6PFY8
Predicted Effect probably damaging
Transcript: ENSMUST00000037409
AA Change: V457G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
AA Change: V457G

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: ENSMUST00000094048
AA Change: V408G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091590
Gene: ENSMUSG00000033233
AA Change: V408G

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: V457G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
AA Change: V457G

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: V457G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: V457G

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 0.8920 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (87/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A C 5: 26,684,783 (GRCm39) noncoding transcript Het
Abca15 A T 7: 119,939,224 (GRCm39) E206V probably damaging Het
Acy1 A G 9: 106,310,596 (GRCm39) F343L probably benign Het
Adam22 T C 5: 8,229,645 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,607,948 (GRCm39) D4041E probably benign Het
Akr1c14 T C 13: 4,129,102 (GRCm39) S166P probably damaging Het
Alms1 T A 6: 85,604,946 (GRCm39) C2199S probably damaging Het
Atm A T 9: 53,431,409 (GRCm39) Y316* probably null Het
Atp1a1 T C 3: 101,487,133 (GRCm39) D892G probably benign Het
Auts2 A G 5: 131,472,336 (GRCm39) V581A probably benign Het
Bltp1 A G 3: 36,997,548 (GRCm39) probably benign Het
Boll T A 1: 55,394,894 (GRCm39) N57I probably damaging Het
C1s2 A C 6: 124,612,547 (GRCm39) V36G possibly damaging Het
Capza1 T C 3: 104,748,154 (GRCm39) Y70C probably damaging Het
Carnmt1 T C 19: 18,668,950 (GRCm39) S292P possibly damaging Het
Cemip2 T G 19: 21,819,469 (GRCm39) F1087V probably benign Het
Cyp2g1 T G 7: 26,520,226 (GRCm39) V486G probably benign Het
Dennd6b T A 15: 89,080,454 (GRCm39) T49S possibly damaging Het
Dhx58 A T 11: 100,586,963 (GRCm39) I610N probably damaging Het
Elapor2 T A 5: 9,478,502 (GRCm39) N455K probably damaging Het
Fam170a T A 18: 50,415,021 (GRCm39) N222K probably benign Het
Fbn1 A G 2: 125,254,624 (GRCm39) V213A possibly damaging Het
Frem3 A C 8: 81,339,876 (GRCm39) D723A possibly damaging Het
Fsip2 A T 2: 82,818,836 (GRCm39) K4856N possibly damaging Het
Galnt17 A G 5: 130,905,351 (GRCm39) V571A probably damaging Het
Gm6124 A G 7: 38,872,454 (GRCm39) noncoding transcript Het
Gm8973 A G 15: 98,904,136 (GRCm39) noncoding transcript Het
Gpd2 A G 2: 57,194,417 (GRCm39) T107A probably damaging Het
Hsd17b11 G A 5: 104,151,158 (GRCm39) A192V probably damaging Het
Igkv6-25 C T 6: 70,192,426 (GRCm39) Q4* probably null Het
Kalrn A G 16: 33,796,112 (GRCm39) I1221T probably benign Het
Klhl9 G T 4: 88,638,771 (GRCm39) T490K possibly damaging Het
Lnpep A G 17: 17,799,571 (GRCm39) V28A probably damaging Het
Lrrc37 G A 11: 103,425,675 (GRCm39) P1419S unknown Het
Man2c1 A G 9: 57,047,923 (GRCm39) H843R probably benign Het
Map1b T C 13: 99,570,682 (GRCm39) K680E unknown Het
Metap2 A T 10: 93,715,539 (GRCm39) probably null Het
Mfsd2a A T 4: 122,843,949 (GRCm39) I340N possibly damaging Het
Mgll T C 6: 88,795,647 (GRCm39) probably null Het
Myh9 A G 15: 77,691,998 (GRCm39) probably benign Het
Ncapd3 A T 9: 26,983,062 (GRCm39) I937F probably damaging Het
Neb T C 2: 52,224,504 (GRCm39) probably benign Het
Nova1 A G 12: 46,747,030 (GRCm39) S416P probably damaging Het
Oosp3 T C 19: 11,678,308 (GRCm39) W95R probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t26 A T 11: 49,039,188 (GRCm39) M35L probably benign Het
Or5p76 T A 7: 108,122,384 (GRCm39) I258F possibly damaging Het
Or7e175 A T 9: 20,049,363 (GRCm39) K317M probably benign Het
Pcdha7 T A 18: 37,108,501 (GRCm39) S509T probably damaging Het
Pdgfrb T C 18: 61,198,207 (GRCm39) V296A probably benign Het
Pdzd2 A T 15: 12,592,494 (GRCm39) L50* probably null Het
Plcl2 G T 17: 50,914,347 (GRCm39) R452L possibly damaging Het
Poldip3 A T 15: 83,022,392 (GRCm39) F131I possibly damaging Het
Pwwp3a T C 10: 80,076,209 (GRCm39) probably benign Het
Rffl G A 11: 82,703,543 (GRCm39) R127* probably null Het
Sec24d T A 3: 123,152,550 (GRCm39) V854E probably damaging Het
Sgo2a T A 1: 58,056,918 (GRCm39) L1034* probably null Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
Spaca1 A T 4: 34,039,247 (GRCm39) N95K possibly damaging Het
Spag17 C T 3: 99,992,657 (GRCm39) Q1718* probably null Het
Spdl1 C T 11: 34,714,267 (GRCm39) A141T probably benign Het
Stxbp3-ps A T 19: 9,535,714 (GRCm39) noncoding transcript Het
Supv3l1 G T 10: 62,266,394 (GRCm39) A594D probably damaging Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tmem131 T C 1: 36,866,255 (GRCm39) N483S possibly damaging Het
Tonsl A T 15: 76,522,301 (GRCm39) C231S probably damaging Het
Trav9n-4 T C 14: 53,532,305 (GRCm39) F53S possibly damaging Het
Trgv7 G T 13: 19,362,558 (GRCm39) L82F probably damaging Het
Trpm1 T A 7: 63,885,579 (GRCm39) I865N probably damaging Het
Trpm3 C A 19: 22,676,130 (GRCm39) L99I probably benign Het
Twist1 T A 12: 34,008,440 (GRCm39) L155Q probably damaging Het
Vac14 A G 8: 111,437,018 (GRCm39) E577G possibly damaging Het
Vmn1r184 T C 7: 25,966,881 (GRCm39) V209A probably benign Het
Xdh C T 17: 74,198,288 (GRCm39) G1200R probably damaging Het
Zbbx C T 3: 74,990,990 (GRCm39) D290N possibly damaging Het
Zbtb40 T C 4: 136,725,263 (GRCm39) T585A probably benign Het
Zc3h4 T A 7: 16,156,155 (GRCm39) D262E unknown Het
Zfp777 G T 6: 48,014,601 (GRCm39) D368E 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
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'- CTTCAGAGCTGGGAGTGTAACAG -3'
(R):5'- GGAGAGCACAGCTGATTTCAG -3'

Sequencing Primer
(F):5'- CTGGGAGTGTAACAGAGACCAGC -3'
(R):5'- TCAGCTCTTAAGCAGCTG -3'
Posted On 2016-06-06