Incidental Mutation 'IGL00493:Trim10'
ID3853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim10
Ensembl Gene ENSMUSG00000073400
Gene Nametripartite motif-containing 10
SynonymsRnf9, Herf1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL00493
Quality Score
Status
Chromosome17
Chromosomal Location36869574-36877833 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36877248 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 452 (H452L)
Ref Sequence ENSEMBL: ENSMUSP00000057928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060524] [ENSMUST00000087158] [ENSMUST00000172711]
Predicted Effect probably benign
Transcript: ENSMUST00000060524
AA Change: H452L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400
AA Change: H452L

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
SMART Domains Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399

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
SMART Domains Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399

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
Coding Region Coverage
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. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,696,599 probably benign Het
4930415O20Rik T C 15: 98,588,544 probably benign Het
Adarb2 A G 13: 8,701,725 T509A probably benign Het
Arhgap23 T C 11: 97,446,553 probably null Het
Astn1 A T 1: 158,600,319 I687F possibly damaging Het
Atg4d T C 9: 21,266,921 F112L probably damaging Het
Cd200 T A 16: 45,397,046 D94V probably damaging Het
Cfap46 T C 7: 139,614,443 K2285R probably benign Het
Clhc1 T A 11: 29,571,745 I426N probably damaging Het
Cnnm2 T A 19: 46,763,220 V483E probably damaging Het
Dlc1 A T 8: 36,570,282 probably benign Het
Fpgs T C 2: 32,687,997 I138V possibly damaging Het
Gpr152 T C 19: 4,143,507 V349A probably benign Het
Hk1 C A 10: 62,286,348 E523* probably null Het
Krt6a T G 15: 101,692,794 K241N probably damaging Het
Mcm3ap A G 10: 76,471,177 S375G probably benign Het
Meikin C T 11: 54,398,494 P231L probably damaging Het
Micall1 G A 15: 79,115,021 probably benign Het
Mvk G A 5: 114,445,441 V14I probably benign Het
Myo6 C T 9: 80,292,472 S1021L probably damaging Het
N4bp2l2 G A 5: 150,661,936 T193M probably benign Het
Naip5 G T 13: 100,230,771 D272E probably damaging Het
Nptn T A 9: 58,643,639 N316K probably damaging Het
Pde6c T C 19: 38,162,876 probably benign Het
Prg4 T A 1: 150,451,920 I850L probably damaging Het
Rdm1 T G 11: 101,635,754 C251G possibly damaging Het
Rps6kl1 G A 12: 85,139,383 P291L probably benign Het
Sel1l A G 12: 91,814,613 probably benign Het
Serpinb1b T C 13: 33,093,867 F361S probably damaging Het
Sirpb1a G A 3: 15,410,728 probably benign Het
Smpd1 T G 7: 105,556,641 V405G probably damaging Het
St5 G A 7: 109,527,708 A932V possibly damaging Het
Tead3 T C 17: 28,332,806 T438A possibly damaging Het
Treh A T 9: 44,683,900 D89V probably damaging Het
Ttc30a1 C A 2: 75,981,741 probably benign Het
Ugt2b1 A G 5: 86,925,958 C181R probably benign Het
Uhrf1bp1l A C 10: 89,779,984 D163A probably damaging Het
Xdh A T 17: 73,923,106 F277I possibly damaging Het
Zswim4 T G 8: 84,212,140 T1038P probably damaging Het
Other mutations in Trim10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Trim10 APN 17 36877047 missense probably benign 0.08
IGL00846:Trim10 APN 17 36871692 missense probably damaging 1.00
IGL01536:Trim10 APN 17 36877288 unclassified probably null
IGL02814:Trim10 APN 17 36877336 nonsense probably null
IGL03135:Trim10 APN 17 36874221 missense possibly damaging 0.78
IGL03144:Trim10 APN 17 36876848 missense probably damaging 1.00
IGL03298:Trim10 APN 17 36877025 missense possibly damaging 0.87
PIT4378001:Trim10 UTSW 17 36877128 missense probably damaging 0.98
R0102:Trim10 UTSW 17 36870182 missense probably damaging 1.00
R0102:Trim10 UTSW 17 36870182 missense probably damaging 1.00
R0834:Trim10 UTSW 17 36872391 missense probably benign 0.00
R1517:Trim10 UTSW 17 36872454 missense probably damaging 1.00
R1691:Trim10 UTSW 17 36876899 missense probably damaging 1.00
R1696:Trim10 UTSW 17 36877181 nonsense probably null
R2149:Trim10 UTSW 17 36877014 missense probably benign 0.18
R3153:Trim10 UTSW 17 36871688 missense probably damaging 1.00
R3154:Trim10 UTSW 17 36871688 missense probably damaging 1.00
R5156:Trim10 UTSW 17 36877056 missense probably damaging 0.99
R5327:Trim10 UTSW 17 36870189 missense probably damaging 1.00
R5361:Trim10 UTSW 17 36875436 missense probably benign 0.03
R5758:Trim10 UTSW 17 36877152 missense possibly damaging 0.80
R5764:Trim10 UTSW 17 36870181 missense probably damaging 0.97
R6032:Trim10 UTSW 17 36871714 missense possibly damaging 0.87
R6032:Trim10 UTSW 17 36871714 missense possibly damaging 0.87
R6179:Trim10 UTSW 17 36877031 missense probably damaging 1.00
R6709:Trim10 UTSW 17 36872370 missense probably damaging 0.99
R7172:Trim10 UTSW 17 36870063 missense possibly damaging 0.78
R7197:Trim10 UTSW 17 36876954 missense probably damaging 1.00
R7390:Trim10 UTSW 17 36869881 start codon destroyed probably null 0.98
R7391:Trim10 UTSW 17 36869881 start codon destroyed probably null 0.98
Posted On2012-04-20