Incidental Mutation 'R5969:Trim40'
ID 470772
Institutional Source Beutler Lab
Gene Symbol Trim40
Ensembl Gene ENSMUSG00000073399
Gene Name tripartite motif-containing 40
Synonyms LOC240093, LOC333872, LOC195359
MMRRC Submission 044152-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5969 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37192490-37201015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37193319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 203 (R203H)
Ref Sequence ENSEMBL: ENSMUSP00000133581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060524] [ENSMUST00000087158] [ENSMUST00000172711]
AlphaFold Q3UWA4
Predicted Effect probably benign
Transcript: ENSMUST00000060524
SMART Domains Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400

DomainStartEndE-ValueType
RING 16 60 1.2e-7 SMART
BBOX 94 135 5.38e-10 SMART
coiled coil region 152 175 N/A INTRINSIC
low complexity region 187 207 N/A INTRINSIC
PRY 309 361 1.04e-25 SMART
SPRY 362 485 1.51e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087158
AA Change: R237H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399
AA Change: R237H

DomainStartEndE-ValueType
RING 12 54 6e-8 SMART
Pfam:zf-B_box 65 105 1.1e-6 PFAM
coiled coil region 106 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172711
AA Change: R203H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399
AA Change: R203H

DomainStartEndE-ValueType
RING 12 54 6e-8 SMART
Pfam:zf-B_box 65 105 3.4e-7 PFAM
coiled coil region 106 150 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174107
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 99% (67/68)
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 (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,258,999 (GRCm39) Y19D probably damaging Het
Abca13 T A 11: 9,242,214 (GRCm39) L1359* probably null Het
Ahi1 A T 10: 20,860,292 (GRCm39) D671V probably damaging Het
Ahnak T C 19: 8,993,949 (GRCm39) S5078P probably damaging Het
Ankhd1 A T 18: 36,733,887 (GRCm39) T584S probably damaging Het
Apba2 T A 7: 64,394,195 (GRCm39) L568* probably null Het
Cenpn C A 8: 117,667,276 (GRCm39) L300I probably damaging Het
Cmya5 A T 13: 93,226,052 (GRCm39) L3012Q possibly damaging Het
Cnnm1 T C 19: 43,479,911 (GRCm39) S819P probably damaging Het
Cpa6 A T 1: 10,559,108 (GRCm39) S87T probably benign Het
Crybg2 T A 4: 133,803,003 (GRCm39) probably null Het
Csmd1 T A 8: 16,121,367 (GRCm39) T1777S probably benign Het
Csmd3 G T 15: 47,811,386 (GRCm39) P1235Q probably damaging Het
Cxcr4 T A 1: 128,517,584 (GRCm39) N24Y probably benign Het
D630003M21Rik G T 2: 158,059,628 (GRCm39) H91N probably damaging Het
Ece1 T C 4: 137,689,051 (GRCm39) probably null Het
Edc3 T C 9: 57,620,711 (GRCm39) S11P probably damaging Het
Eif1ad14 T C 12: 87,886,248 (GRCm39) D127G unknown Het
Exoc3 G A 13: 74,320,305 (GRCm39) Q719* probably null Het
Fam13a A G 6: 58,942,183 (GRCm39) M203T probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fhip2a C T 19: 57,372,555 (GRCm39) R602* probably null Het
Fxyd2 T A 9: 45,319,628 (GRCm39) I30N probably damaging Het
Gapt A G 13: 110,490,480 (GRCm39) V61A probably benign Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gpr35 T C 1: 92,910,942 (GRCm39) V2A probably damaging Het
Gtf3c1 A G 7: 125,244,848 (GRCm39) S1729P possibly damaging Het
Heatr5a T C 12: 52,005,823 (GRCm39) T51A probably benign Het
Kat6b G A 14: 21,720,860 (GRCm39) M1737I probably damaging Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klk10 A G 7: 43,434,409 (GRCm39) Y267C probably damaging Het
Lgmn T C 12: 102,372,086 (GRCm39) Y98C probably damaging Het
Lyst A C 13: 13,862,398 (GRCm39) probably null Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mfng A T 15: 78,648,582 (GRCm39) V165D possibly damaging Het
Mto1 A G 9: 78,360,187 (GRCm39) E225G probably damaging Het
Notch3 C A 17: 32,372,858 (GRCm39) C571F probably damaging Het
Nup205 C T 6: 35,154,513 (GRCm39) probably benign Het
Or51b6 T A 7: 103,556,117 (GRCm39) I157N probably damaging Het
P2ry14 T A 3: 59,022,579 (GRCm39) I303F probably damaging Het
Pcnx3 T C 19: 5,735,563 (GRCm39) D421G probably damaging Het
Pdlim4 T C 11: 53,954,482 (GRCm39) H75R possibly damaging Het
Phf21a A T 2: 92,051,956 (GRCm39) H17L probably damaging Het
Ppid T A 3: 79,505,024 (GRCm39) N122K probably damaging Het
Ppp4r3a T C 12: 101,009,838 (GRCm39) I613V probably benign Het
Prcp C T 7: 92,566,974 (GRCm39) P229S probably benign Het
Ralgds T C 2: 28,432,426 (GRCm39) V85A probably damaging Het
Rgs22 G A 15: 36,015,782 (GRCm39) T1034I probably benign Het
Slc4a3 T C 1: 75,526,623 (GRCm39) V48A probably damaging Het
Snx16 A T 3: 10,503,217 (GRCm39) M10K possibly damaging Het
Svep1 G A 4: 58,070,977 (GRCm39) Q2270* probably null Het
Tmem185b T G 1: 119,455,193 (GRCm39) I318S probably benign Het
Tnik C T 3: 28,675,097 (GRCm39) R657C probably damaging Het
Top3b T C 16: 16,701,429 (GRCm39) probably null Het
Triobp T A 15: 78,851,740 (GRCm39) N631K probably benign Het
Ubr3 T G 2: 69,809,730 (GRCm39) Y1233* probably null Het
Vgll3 A G 16: 65,636,449 (GRCm39) D200G probably damaging Het
Vmn2r24 G A 6: 123,755,981 (GRCm39) E18K probably benign Het
Zfp141 C A 7: 42,138,912 (GRCm39) R40L probably damaging Het
Other mutations in Trim40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Trim40 APN 17 37,193,289 (GRCm39) makesense probably null
IGL01085:Trim40 APN 17 37,194,133 (GRCm39) missense probably benign 0.01
IGL02071:Trim40 APN 17 37,200,070 (GRCm39) missense probably benign
IGL02343:Trim40 APN 17 37,200,030 (GRCm39) missense probably benign 0.03
R0116:Trim40 UTSW 17 37,194,039 (GRCm39) critical splice donor site probably null
R1853:Trim40 UTSW 17 37,199,970 (GRCm39) missense probably damaging 1.00
R2216:Trim40 UTSW 17 37,199,875 (GRCm39) missense probably benign 0.10
R4649:Trim40 UTSW 17 37,193,531 (GRCm39) splice site probably null
R4903:Trim40 UTSW 17 37,194,117 (GRCm39) missense possibly damaging 0.95
R5384:Trim40 UTSW 17 37,199,757 (GRCm39) missense probably damaging 0.99
R5680:Trim40 UTSW 17 37,199,874 (GRCm39) missense probably damaging 0.99
R6830:Trim40 UTSW 17 37,199,742 (GRCm39) missense possibly damaging 0.89
R7008:Trim40 UTSW 17 37,194,868 (GRCm39) missense probably damaging 1.00
R7112:Trim40 UTSW 17 37,193,534 (GRCm39) missense probably null 1.00
R7283:Trim40 UTSW 17 37,193,554 (GRCm39) missense probably benign 0.05
R8288:Trim40 UTSW 17 37,194,210 (GRCm39) missense probably benign 0.01
R9742:Trim40 UTSW 17 37,199,902 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TGTTTCGATGCCCACGAGAC -3'
(R):5'- CTGTCCCACATATGAAGACACATG -3'

Sequencing Primer
(F):5'- CATCAGCACACAGTTATATGGAG -3'
(R):5'- CATGCAGACCACATAACATAGATATG -3'
Posted On 2017-03-31