Incidental Mutation 'IGL02959:Trim41'
ID365266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim41
Ensembl Gene ENSMUSG00000040365
Gene Nametripartite motif-containing 41
SynonymsRINCK
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.268) question?
Stock #IGL02959
Quality Score
Status
Chromosome11
Chromosomal Location48806404-48817353 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 48807480 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 553 (G553V)
Ref Sequence ENSEMBL: ENSMUSP00000037055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020640] [ENSMUST00000047145] [ENSMUST00000131888] [ENSMUST00000140800]
Predicted Effect probably benign
Transcript: ENSMUST00000020640
SMART Domains Protein: ENSMUSP00000020640
Gene: ENSMUSG00000020372

DomainStartEndE-ValueType
WD40 4 44 5.55e-7 SMART
WD40 52 91 6.48e-8 SMART
WD40 94 133 2.95e-11 SMART
WD40 135 178 8.55e-8 SMART
WD40 181 220 2.42e-7 SMART
WD40 223 260 6.34e-2 SMART
WD40 271 311 2.4e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000047145
AA Change: G553V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365
AA Change: G553V

DomainStartEndE-ValueType
RING 20 186 2.91e-6 SMART
BBOX 222 263 3.31e-10 SMART
coiled coil region 281 313 N/A INTRINSIC
coiled coil region 336 374 N/A INTRINSIC
PRY 430 482 2.04e-19 SMART
Pfam:SPRY 485 629 6.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125166
Predicted Effect probably benign
Transcript: ENSMUST00000131888
SMART Domains Protein: ENSMUSP00000119707
Gene: ENSMUSG00000040365

DomainStartEndE-ValueType
Pfam:DUF3631 9 124 9.4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136849
Predicted Effect probably benign
Transcript: ENSMUST00000138019
SMART Domains Protein: ENSMUSP00000118789
Gene: ENSMUSG00000040365

DomainStartEndE-ValueType
Blast:RING 2 45 2e-6 BLAST
SCOP:d1jm7b_ 41 75 1e-4 SMART
BBOX 81 122 3.31e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139959
Predicted Effect probably benign
Transcript: ENSMUST00000140800
SMART Domains Protein: ENSMUSP00000121705
Gene: ENSMUSG00000040365

DomainStartEndE-ValueType
BBOX 19 60 3.31e-10 SMART
coiled coil region 78 110 N/A INTRINSIC
coiled coil region 133 161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142269
Coding Region Coverage
Validation Efficiency
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) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,567,060 A506D probably benign Het
Agap1 G T 1: 89,843,191 V635L possibly damaging Het
Akr1c12 T C 13: 4,279,332 K9E probably benign Het
Alms1 T A 6: 85,629,052 Y2561* probably null Het
Atm T C 9: 53,471,418 H1957R probably damaging Het
Bcr T C 10: 75,160,390 F922S probably benign Het
Cfap44 T A 16: 44,470,867 probably benign Het
Chil5 A G 3: 106,019,590 V243A probably damaging Het
Csmd1 A G 8: 15,910,465 C3317R probably damaging Het
Dsc1 T C 18: 20,108,885 K133R probably damaging Het
Ecm1 T A 3: 95,737,677 Q136L probably damaging Het
Fscn3 C A 6: 28,435,998 A431E possibly damaging Het
Gas7 C T 11: 67,674,235 probably benign Het
Gbx2 A G 1: 89,928,795 V291A probably damaging Het
Hipk3 G A 2: 104,471,259 T196M probably damaging Het
Il20ra T A 10: 19,759,041 N343K probably benign Het
Il24 C T 1: 130,885,733 W42* probably null Het
Kif13b A T 14: 64,767,717 I1153F probably damaging Het
Krt2 A T 15: 101,811,328 S636T unknown Het
Olfr1302 T A 2: 111,780,610 C97S probably damaging Het
Olfr215 A T 6: 116,582,544 M134K probably damaging Het
Olfr293 T C 7: 86,664,529 F289S probably damaging Het
Olfr539 C T 7: 140,667,550 P81S probably damaging Het
Olfr739 A T 14: 50,424,932 M138L possibly damaging Het
Osmr T C 15: 6,815,897 D796G possibly damaging Het
Peli2 A T 14: 48,240,297 T99S probably benign Het
Pi4k2a A T 19: 42,113,071 K317N probably benign Het
Pik3r1 T G 13: 101,757,529 D44A probably benign Het
Pkhd1 G T 1: 20,608,416 S96* probably null Het
Plekha5 A G 6: 140,544,178 E9G probably damaging Het
Plekha8 T C 6: 54,615,269 F71S probably damaging Het
Polq G T 16: 37,086,566 L2296F probably damaging Het
Rbm5 G A 9: 107,754,185 probably benign Het
Rc3h2 T C 2: 37,405,354 K217E probably damaging Het
Scrib A G 15: 76,065,207 L350P probably damaging Het
Slc4a10 T A 2: 62,268,143 S540R probably damaging Het
Smc3 G T 19: 53,623,557 V354L probably benign Het
Smurf1 T A 5: 144,899,389 I105F probably damaging Het
Stx7 G T 10: 24,155,349 R17L probably benign Het
Tbca C T 13: 94,842,695 R74C probably benign Het
Tmem92 T C 11: 94,778,678 Q153R possibly damaging Het
Trim75 A T 8: 64,982,765 N344K possibly damaging Het
Tsr1 A G 11: 74,900,249 D218G probably benign Het
Ubr2 A C 17: 46,975,951 V474G probably damaging Het
Unc45a T G 7: 80,332,973 probably benign Het
Zfp609 C T 9: 65,703,393 A763T probably benign Het
Other mutations in Trim41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Trim41 APN 11 48812363 missense possibly damaging 0.94
R0692:Trim41 UTSW 11 48808250 unclassified probably null
R1785:Trim41 UTSW 11 48807592 missense probably damaging 1.00
R1931:Trim41 UTSW 11 48807492 missense probably damaging 0.99
R2130:Trim41 UTSW 11 48807592 missense probably damaging 1.00
R2132:Trim41 UTSW 11 48807592 missense probably damaging 1.00
R2918:Trim41 UTSW 11 48816257 intron probably benign
R3018:Trim41 UTSW 11 48807694 missense probably benign 0.00
R3024:Trim41 UTSW 11 48808158 missense possibly damaging 0.48
R3770:Trim41 UTSW 11 48809084 missense possibly damaging 0.75
R5295:Trim41 UTSW 11 48816257 intron probably benign
R5615:Trim41 UTSW 11 48807365 unclassified probably benign
R5616:Trim41 UTSW 11 48807365 unclassified probably benign
R6673:Trim41 UTSW 11 48816257 intron probably benign
RF010:Trim41 UTSW 11 48807338 missense probably damaging 1.00
Posted On2015-12-18