Incidental Mutation 'IGL03051:Trim59'
ID409067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim59
Ensembl Gene ENSMUSG00000034317
Gene Nametripartite motif-containing 59
SynonymsMrf1, 2310035M22Rik, 2700022F13Rik, TSBF1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL03051
Quality Score
Status
Chromosome3
Chromosomal Location69035288-69044755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69036873 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 378 (N378S)
Ref Sequence ENSEMBL: ENSMUSP00000120270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042901] [ENSMUST00000107802] [ENSMUST00000107803] [ENSMUST00000136512] [ENSMUST00000148385]
Predicted Effect probably benign
Transcript: ENSMUST00000042901
SMART Domains Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349

DomainStartEndE-ValueType
PDB:1W1W|D 89 238 1e-17 PDB
Blast:AAA 104 238 3e-6 BLAST
low complexity region 408 427 N/A INTRINSIC
low complexity region 447 460 N/A INTRINSIC
low complexity region 473 482 N/A INTRINSIC
low complexity region 545 567 N/A INTRINSIC
SMC_hinge 611 726 1.12e-31 SMART
low complexity region 870 881 N/A INTRINSIC
low complexity region 942 953 N/A INTRINSIC
Blast:AAA 1102 1276 5e-26 BLAST
PDB:3KTA|D 1125 1276 3e-30 PDB
SCOP:d1e69a_ 1188 1263 3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107802
AA Change: N378S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103432
Gene: ENSMUSG00000034317
AA Change: N378S

DomainStartEndE-ValueType
RING 10 59 2.44e-8 SMART
Pfam:zf-B_box 92 134 5.9e-10 PFAM
transmembrane domain 329 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107803
SMART Domains Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349

DomainStartEndE-ValueType
Pfam:AAA_23 59 329 1.3e-12 PFAM
Pfam:AAA_21 81 199 5.2e-7 PFAM
coiled coil region 369 482 N/A INTRINSIC
coiled coil region 511 563 N/A INTRINSIC
SMC_hinge 586 701 8.6e-36 SMART
Pfam:SMC_N 738 1247 1.1e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128118
Predicted Effect probably benign
Transcript: ENSMUST00000136512
AA Change: N378S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120270
Gene: ENSMUSG00000034317
AA Change: N378S

DomainStartEndE-ValueType
RING 10 59 2.44e-8 SMART
Pfam:zf-B_box 92 134 8.4e-10 PFAM
transmembrane domain 329 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148385
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,987,301 probably benign Het
Abhd14a A T 9: 106,443,929 F76I possibly damaging Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akap13 T A 7: 75,610,485 C149* probably null Het
Appbp2 A T 11: 85,191,739 D555E possibly damaging Het
Arhgap25 T C 6: 87,495,914 Q87R probably null Het
Baz1b T A 5: 135,217,225 N509K probably benign Het
Ces5a C A 8: 93,528,598 G156C probably damaging Het
Chtf18 G A 17: 25,720,964 R723W probably damaging Het
Clec4e A G 6: 123,289,733 S6P probably benign Het
Dennd4a A G 9: 64,862,414 I468V probably damaging Het
Epb41l4a A T 18: 33,874,772 Y233N probably damaging Het
Fam210b C T 2: 172,352,692 H155Y probably benign Het
Frmd4b A T 6: 97,295,982 C770* probably null Het
Gpa33 A G 1: 166,165,221 H301R probably benign Het
Gpr39 T A 1: 125,677,748 C138S probably damaging Het
Gtf2i T A 5: 134,242,914 K858* probably null Het
Ighv7-1 A T 12: 113,896,956 probably benign Het
Iglv1 T C 16: 19,085,223 T49A possibly damaging Het
Kif17 A C 4: 138,289,254 D416A probably damaging Het
Mib2 T C 4: 155,657,290 T431A probably damaging Het
Mpz G A 1: 171,158,811 R98H probably damaging Het
Naa16 T C 14: 79,369,082 E337G probably benign Het
Odam G A 5: 87,892,476 probably benign Het
Olfr397 T A 11: 73,965,034 L142H probably benign Het
Parp2 T C 14: 50,819,348 probably benign Het
Pcdh7 T G 5: 58,129,073 S1164A probably damaging Het
Pkp4 G T 2: 59,311,762 A470S probably benign Het
Plin4 A T 17: 56,105,417 M538K possibly damaging Het
Prex2 T C 1: 11,142,665 V624A probably damaging Het
Rps6ka5 A C 12: 100,615,991 probably null Het
Simc1 T C 13: 54,526,223 S795P probably benign Het
Slc35b4 A T 6: 34,160,471 probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt14 T C 1: 192,933,220 N486S probably benign Het
Wdr17 T A 8: 54,651,314 D908V probably damaging Het
Wdr74 A G 19: 8,739,511 probably benign Het
Wisp1 T A 15: 66,906,550 C73* probably null Het
Other mutations in Trim59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Trim59 APN 3 69037379 missense probably benign 0.00
IGL02172:Trim59 APN 3 69037477 missense probably benign 0.00
R0865:Trim59 UTSW 3 69037608 missense probably damaging 1.00
R1729:Trim59 UTSW 3 69036853 missense probably benign 0.03
R1839:Trim59 UTSW 3 69037638 missense probably damaging 1.00
R2212:Trim59 UTSW 3 69037543 missense probably benign 0.31
R2311:Trim59 UTSW 3 69037829 nonsense probably null
R3766:Trim59 UTSW 3 69036804 missense probably benign
R4633:Trim59 UTSW 3 69037414 missense probably benign 0.16
R4823:Trim59 UTSW 3 69037120 missense probably benign 0.13
R5123:Trim59 UTSW 3 69037734 missense probably benign 0.30
R7125:Trim59 UTSW 3 69036864 missense probably benign 0.04
R7633:Trim59 UTSW 3 69037926 missense probably damaging 1.00
R7892:Trim59 UTSW 3 69037807 missense probably benign
Posted On2016-08-02