Incidental Mutation 'IGL00573:Trim30c'
ID332669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim30c
Ensembl Gene ENSMUSG00000078616
Gene Nametripartite motif-containing 30C
SynonymsGm5598, Trim30-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.047) question?
Stock #IGL00573
Quality Score
Status
Chromosome7
Chromosomal Location104382065-104400837 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104382631 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 326 (I326L)
Ref Sequence ENSEMBL: ENSMUSP00000102441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106828]
Predicted Effect possibly damaging
Transcript: ENSMUST00000106828
AA Change: I326L

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102441
Gene: ENSMUSG00000078616
AA Change: I326L

DomainStartEndE-ValueType
RING 16 59 2.51e-10 SMART
BBOX 92 133 2.02e-14 SMART
low complexity region 197 229 N/A INTRINSIC
Pfam:SPRY 356 495 1.9e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,827,704 D687G probably benign Het
Cd69 C A 6: 129,268,320 V140F probably damaging Het
Cep290 C T 10: 100,540,361 P1437L probably damaging Het
Chd4 T C 6: 125,109,897 Y1023H probably damaging Het
Col6a4 T A 9: 106,022,896 Y1676F probably benign Het
Ctnna2 A C 6: 76,902,281 probably benign Het
Cwf19l2 T C 9: 3,450,161 probably benign Het
Fbln1 A T 15: 85,227,037 M131L probably benign Het
Flcn A G 11: 59,795,823 V368A probably damaging Het
Marveld2 A T 13: 100,597,859 probably benign Het
Mcm8 A G 2: 132,832,812 Y400C possibly damaging Het
Mdn1 T C 4: 32,666,619 probably null Het
Nedd4 T A 9: 72,686,056 probably null Het
Nlrp3 C T 11: 59,565,116 H913Y possibly damaging Het
Pkd1 G T 17: 24,594,530 E4015* probably null Het
Plscr1 C T 9: 92,264,679 L125F probably benign Het
Tsga10 T C 1: 37,807,070 D325G probably damaging Het
Tubgcp4 A G 2: 121,178,701 Y158C probably damaging Het
Zbtb40 G A 4: 137,018,078 P215S probably benign Het
Zfp568 A T 7: 30,022,440 H269L possibly damaging Het
Zmynd11 T G 13: 9,689,226 E510A probably damaging Het
Other mutations in Trim30c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Trim30c APN 7 104382182 nonsense probably null
IGL01023:Trim30c APN 7 104382972 splice site probably benign
IGL01413:Trim30c APN 7 104382334 missense possibly damaging 0.85
IGL01418:Trim30c APN 7 104382334 missense possibly damaging 0.85
IGL02330:Trim30c APN 7 104382958 missense possibly damaging 0.61
IGL02389:Trim30c APN 7 104382174 missense probably benign 0.00
IGL03107:Trim30c APN 7 104382613 missense possibly damaging 0.95
R0195:Trim30c UTSW 7 104382429 missense probably benign
R0324:Trim30c UTSW 7 104383309 missense possibly damaging 0.79
R0826:Trim30c UTSW 7 104383481 missense probably benign 0.01
R0865:Trim30c UTSW 7 104390451 missense probably damaging 1.00
R1484:Trim30c UTSW 7 104383252 missense probably benign 0.00
R1513:Trim30c UTSW 7 104382689 missense probably benign 0.04
R1563:Trim30c UTSW 7 104382951 missense probably benign 0.00
R2220:Trim30c UTSW 7 104383267 missense probably benign
R2442:Trim30c UTSW 7 104382274 missense probably damaging 1.00
R5326:Trim30c UTSW 7 104388304 missense possibly damaging 0.89
R5777:Trim30c UTSW 7 104383331 missense probably benign 0.08
R6118:Trim30c UTSW 7 104382081 missense probably benign 0.01
R6257:Trim30c UTSW 7 104390168 missense probably damaging 1.00
R6374:Trim30c UTSW 7 104390402 missense probably benign 0.01
R7387:Trim30c UTSW 7 104390190 missense probably damaging 1.00
R7419:Trim30c UTSW 7 104388265 missense probably benign 0.11
R7500:Trim30c UTSW 7 104387551 missense probably benign 0.00
R7542:Trim30c UTSW 7 104382218 missense possibly damaging 0.95
Z1176:Trim30c UTSW 7 104383258 missense not run
Posted On2015-08-05