Incidental Mutation 'IGL01818:Trim30d'
ID154443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim30d
Ensembl Gene ENSMUSG00000057596
Gene Nametripartite motif-containing 30D
SynonymsTrim79, TRIM30-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL01818
Quality Score
Status
Chromosome7
Chromosomal Location104470014-104507849 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104472060 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 343 (C343S)
Ref Sequence ENSEMBL: ENSMUSP00000065020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033211] [ENSMUST00000071069]
Predicted Effect probably damaging
Transcript: ENSMUST00000033211
AA Change: C493S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033211
Gene: ENSMUSG00000057596
AA Change: C493S

DomainStartEndE-ValueType
RING 15 58 1.72e-8 SMART
BBOX 91 132 5.25e-13 SMART
low complexity region 196 228 N/A INTRINSIC
Pfam:SPRY 350 491 1.9e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071069
AA Change: C343S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065020
Gene: ENSMUSG00000057596
AA Change: C343S

DomainStartEndE-ValueType
coiled coil region 23 84 N/A INTRINSIC
Pfam:SPRY 198 346 1.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141063
SMART Domains Protein: ENSMUSP00000115684
Gene: ENSMUSG00000057596

DomainStartEndE-ValueType
PDB:4B3N|B 58 197 3e-19 PDB
Blast:SPRY 122 209 4e-13 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF529169 T C 9: 89,601,313 E677G probably damaging Het
Agrp T C 8: 105,567,386 D35G probably benign Het
C3ar1 T C 6: 122,850,419 N280D probably benign Het
Ccpg1 A G 9: 72,997,453 T15A probably damaging Het
Chmp7 A G 14: 69,719,167 V361A probably damaging Het
Dnmbp T A 19: 43,901,165 K721M probably damaging Het
Elmod3 T C 6: 72,586,507 E46G possibly damaging Het
Gm4922 T C 10: 18,784,953 D7G unknown Het
H2-T24 C A 17: 36,017,236 probably benign Het
Hal A T 10: 93,490,984 T161S probably damaging Het
Htr1d A G 4: 136,442,886 E142G probably benign Het
Mrps31 T C 8: 22,411,467 M1T probably null Het
Nckap1l T C 15: 103,478,282 L628P probably damaging Het
Oosp2 T C 19: 11,649,689 N90S probably benign Het
Pitpnm3 A G 11: 72,112,251 probably benign Het
Ppox A T 1: 171,280,744 I6K probably benign Het
Skint6 G T 4: 112,948,569 Q690K probably benign Het
Stat1 T C 1: 52,151,278 I564T probably damaging Het
Tiam1 T A 16: 89,867,704 I539F probably damaging Het
Tmem191c A G 16: 17,277,730 R35G possibly damaging Het
Trpm3 T C 19: 22,914,474 L736S probably damaging Het
Vmn2r73 T A 7: 85,869,901 probably benign Het
Other mutations in Trim30d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Trim30d APN 7 104472126 missense possibly damaging 0.81
IGL02552:Trim30d APN 7 104472416 missense probably damaging 0.98
IGL03000:Trim30d APN 7 104473269 missense probably benign 0.26
R0608:Trim30d UTSW 7 104472485 missense probably damaging 0.99
R0629:Trim30d UTSW 7 104487655 missense probably damaging 1.00
R1390:Trim30d UTSW 7 104483403 missense probably benign 0.41
R1460:Trim30d UTSW 7 104472104 missense probably benign 0.00
R1474:Trim30d UTSW 7 104472494 missense probably damaging 1.00
R1701:Trim30d UTSW 7 104484182 nonsense probably null
R1799:Trim30d UTSW 7 104483475 missense probably damaging 0.98
R2295:Trim30d UTSW 7 104487942 missense probably damaging 1.00
R3898:Trim30d UTSW 7 104483529 missense probably benign 0.01
R3953:Trim30d UTSW 7 104472521 missense probably damaging 1.00
R3954:Trim30d UTSW 7 104472521 missense probably damaging 1.00
R3955:Trim30d UTSW 7 104472521 missense probably damaging 1.00
R3957:Trim30d UTSW 7 104472521 missense probably damaging 1.00
R4086:Trim30d UTSW 7 104487800 missense probably damaging 1.00
R4087:Trim30d UTSW 7 104487800 missense probably damaging 1.00
R4089:Trim30d UTSW 7 104487800 missense probably damaging 1.00
R4580:Trim30d UTSW 7 104472558 missense possibly damaging 0.68
R4596:Trim30d UTSW 7 104472526 missense probably benign 0.02
R4926:Trim30d UTSW 7 104483357 missense probably benign 0.09
R5071:Trim30d UTSW 7 104487958 missense probably damaging 1.00
R5074:Trim30d UTSW 7 104487958 missense probably damaging 1.00
R5294:Trim30d UTSW 7 104472488 missense probably damaging 1.00
R5477:Trim30d UTSW 7 104472140 missense probably damaging 1.00
R5629:Trim30d UTSW 7 104487929 missense possibly damaging 0.87
R5743:Trim30d UTSW 7 104472328 nonsense probably null
R6178:Trim30d UTSW 7 104487995 start codon destroyed probably damaging 1.00
R6244:Trim30d UTSW 7 104487610 missense probably damaging 1.00
R6937:Trim30d UTSW 7 104483427 missense probably damaging 1.00
R7014:Trim30d UTSW 7 104483336 missense probably benign 0.01
R7323:Trim30d UTSW 7 104483348 missense probably benign 0.41
X0026:Trim30d UTSW 7 104487965 missense probably damaging 1.00
Posted On2014-02-04