Incidental Mutation 'R5823:Trim36'
ID 450055
Institutional Source Beutler Lab
Gene Symbol Trim36
Ensembl Gene ENSMUSG00000033949
Gene Name tripartite motif-containing 36
Synonyms Haprin, D18Wsu100e
MMRRC Submission 043215-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.283) question?
Stock # R5823 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 46298367-46345674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46302407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 535 (L535P)
Ref Sequence ENSEMBL: ENSMUSP00000129771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037011] [ENSMUST00000167364]
AlphaFold Q80WG7
Predicted Effect probably damaging
Transcript: ENSMUST00000037011
AA Change: L547P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: L547P

DomainStartEndE-ValueType
RING 33 118 1.25e-5 SMART
BBOX 207 249 1.82e-7 SMART
Blast:BBC 256 381 5e-11 BLAST
FN3 418 498 1.32e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167364
AA Change: L535P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: L535P

DomainStartEndE-ValueType
RING 21 106 1.25e-5 SMART
BBOX 195 237 1.82e-7 SMART
Blast:BBC 244 369 4e-11 BLAST
FN3 406 486 1.32e-1 SMART
Pfam:SPRY 560 704 1.7e-9 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acsl3 G T 1: 78,666,003 (GRCm39) R143L probably benign Het
Ankrd11 A T 8: 123,622,529 (GRCm39) I420K probably benign Het
Aoc1l2 T A 6: 48,907,486 (GRCm39) I162N probably damaging Het
Cwh43 A G 5: 73,569,213 (GRCm39) E85G probably benign Het
Dnah1 G T 14: 30,988,375 (GRCm39) F3442L possibly damaging Het
Dock6 T A 9: 21,716,124 (GRCm39) N1737I probably damaging Het
Fcf1 A G 12: 85,020,921 (GRCm39) Y55C possibly damaging Het
Fer1l6 T A 15: 58,462,352 (GRCm39) Y802* probably null Het
Fgf9 T G 14: 58,320,759 (GRCm39) S10A probably damaging Het
Fhad1 A G 4: 141,682,617 (GRCm39) I508T possibly damaging Het
Flnc T C 6: 29,461,201 (GRCm39) V2692A probably damaging Het
Gm38119 G T 3: 92,645,380 (GRCm39) H71Q unknown Het
Hcn1 A T 13: 117,739,388 (GRCm39) H50L unknown Het
Helz2 T C 2: 180,878,189 (GRCm39) T870A possibly damaging Het
Iqcf4 T C 9: 106,445,800 (GRCm39) I116V probably benign Het
Lama5 T A 2: 179,834,285 (GRCm39) I1383F probably benign Het
Lmo2 C T 2: 103,811,417 (GRCm39) T150I probably damaging Het
Mgat4f T A 1: 134,318,655 (GRCm39) W476R probably damaging Het
Myh13 A G 11: 67,251,294 (GRCm39) E1391G probably damaging Het
Mylk T A 16: 34,715,317 (GRCm39) probably null Het
Nat10 A T 2: 103,560,612 (GRCm39) V731D probably damaging Het
Ncapd2 A G 6: 125,145,663 (GRCm39) V1328A probably benign Het
Nfu1 C A 6: 87,002,541 (GRCm39) Q207K probably damaging Het
Nipsnap2 T A 5: 129,816,833 (GRCm39) probably null Het
Npc1 T C 18: 12,324,846 (GRCm39) K1216E possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Phf3 T C 1: 30,843,764 (GRCm39) I1732V probably damaging Het
Rasgrp4 G T 7: 28,837,142 (GRCm39) R67L probably benign Het
Rubcn T C 16: 32,670,091 (GRCm39) D88G probably damaging Het
Slc30a2 T C 4: 134,073,289 (GRCm39) I112T probably damaging Het
Slc35d2 A G 13: 64,268,419 (GRCm39) I78T probably damaging Het
Slc9a4 T A 1: 40,658,277 (GRCm39) M600K probably damaging Het
Slfn8 A G 11: 82,907,562 (GRCm39) I327T probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tex15 A G 8: 34,060,962 (GRCm39) I405V possibly damaging Het
Thsd7b T C 1: 129,605,821 (GRCm39) S521P probably benign Het
Trim63 A T 4: 134,043,842 (GRCm39) I102F probably damaging Het
Wdr47 G A 3: 108,550,401 (GRCm39) V809M probably damaging Het
Other mutations in Trim36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Trim36 APN 18 46,321,455 (GRCm39) splice site probably benign
IGL02728:Trim36 APN 18 46,305,669 (GRCm39) missense probably benign 0.00
IGL03166:Trim36 APN 18 46,345,388 (GRCm39) missense probably benign
IGL03209:Trim36 APN 18 46,300,575 (GRCm39) missense probably benign
R0346:Trim36 UTSW 18 46,332,776 (GRCm39) unclassified probably benign
R0426:Trim36 UTSW 18 46,305,592 (GRCm39) missense probably damaging 0.97
R0463:Trim36 UTSW 18 46,311,523 (GRCm39) missense possibly damaging 0.89
R0590:Trim36 UTSW 18 46,305,643 (GRCm39) missense probably benign 0.01
R0751:Trim36 UTSW 18 46,329,318 (GRCm39) missense probably damaging 1.00
R1037:Trim36 UTSW 18 46,329,385 (GRCm39) splice site probably benign
R1184:Trim36 UTSW 18 46,329,318 (GRCm39) missense probably damaging 1.00
R1522:Trim36 UTSW 18 46,319,250 (GRCm39) nonsense probably null
R1571:Trim36 UTSW 18 46,305,562 (GRCm39) missense probably benign 0.01
R1687:Trim36 UTSW 18 46,321,724 (GRCm39) missense possibly damaging 0.93
R2057:Trim36 UTSW 18 46,329,229 (GRCm39) missense probably benign 0.02
R2103:Trim36 UTSW 18 46,329,149 (GRCm39) missense probably benign
R2127:Trim36 UTSW 18 46,345,404 (GRCm39) missense probably benign 0.27
R3853:Trim36 UTSW 18 46,305,439 (GRCm39) splice site probably benign
R4209:Trim36 UTSW 18 46,329,191 (GRCm39) missense probably benign 0.44
R4787:Trim36 UTSW 18 46,305,599 (GRCm39) missense probably benign 0.10
R4810:Trim36 UTSW 18 46,305,536 (GRCm39) missense probably benign 0.07
R4953:Trim36 UTSW 18 46,329,245 (GRCm39) missense possibly damaging 0.90
R5107:Trim36 UTSW 18 46,305,705 (GRCm39) missense probably benign
R5320:Trim36 UTSW 18 46,300,565 (GRCm39) missense probably damaging 1.00
R5683:Trim36 UTSW 18 46,302,359 (GRCm39) missense probably damaging 1.00
R6619:Trim36 UTSW 18 46,321,475 (GRCm39) missense probably damaging 0.96
R7349:Trim36 UTSW 18 46,302,495 (GRCm39) missense probably benign 0.29
R7814:Trim36 UTSW 18 46,300,691 (GRCm39) missense possibly damaging 0.64
R7853:Trim36 UTSW 18 46,305,558 (GRCm39) missense probably benign 0.14
R8008:Trim36 UTSW 18 46,305,556 (GRCm39) missense probably benign 0.34
R8294:Trim36 UTSW 18 46,331,588 (GRCm39) missense probably benign 0.02
R8735:Trim36 UTSW 18 46,302,452 (GRCm39) missense probably benign 0.10
R8899:Trim36 UTSW 18 46,302,264 (GRCm39) missense possibly damaging 0.69
R9091:Trim36 UTSW 18 46,300,580 (GRCm39) missense possibly damaging 0.80
R9106:Trim36 UTSW 18 46,300,664 (GRCm39) missense possibly damaging 0.76
R9135:Trim36 UTSW 18 46,302,410 (GRCm39) missense probably benign 0.03
R9262:Trim36 UTSW 18 46,300,506 (GRCm39) missense probably benign 0.01
R9270:Trim36 UTSW 18 46,300,580 (GRCm39) missense possibly damaging 0.80
R9505:Trim36 UTSW 18 46,329,281 (GRCm39) missense probably damaging 1.00
R9587:Trim36 UTSW 18 46,308,722 (GRCm39) missense probably benign 0.06
R9623:Trim36 UTSW 18 46,308,623 (GRCm39) missense probably benign 0.16
R9763:Trim36 UTSW 18 46,309,125 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- AACATACCTTGGACTAGCTGC -3'
(R):5'- TCCCTGCATCTAAGCTATCAGATG -3'

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