Incidental Mutation 'IGL02262:Trim30b'
ID286775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim30b
Ensembl Gene ENSMUSG00000052749
Gene Nametripartite motif-containing 30B
SynonymsTrim30-1, A530023O14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02262
Quality Score
Status
Chromosome7
Chromosomal Location104355382-104369884 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 104365900 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 94 (V94M)
Ref Sequence ENSEMBL: ENSMUSP00000131747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106831] [ENSMUST00000164410]
Predicted Effect probably benign
Transcript: ENSMUST00000106831
AA Change: V94M

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102444
Gene: ENSMUSG00000052749
AA Change: V94M

DomainStartEndE-ValueType
RING 15 59 4.37e-10 SMART
BBOX 92 133 2.82e-13 SMART
coiled coil region 138 228 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145982
Predicted Effect probably damaging
Transcript: ENSMUST00000164410
AA Change: V94M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131747
Gene: ENSMUSG00000052749
AA Change: V94M

DomainStartEndE-ValueType
RING 15 59 4.37e-10 SMART
BBOX 92 133 2.82e-13 SMART
coiled coil region 138 171 N/A INTRINSIC
low complexity region 190 199 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 G T 10: 14,441,396 A560E probably benign Het
Apol7c A T 15: 77,525,813 M311K probably benign Het
Arap2 A C 5: 62,642,841 V1281G probably damaging Het
Cacna1s C T 1: 136,108,129 T1388I probably damaging Het
Dcaf13 T C 15: 39,118,707 probably benign Het
Dscaml1 G A 9: 45,745,116 G1585S probably benign Het
Dscaml1 G A 9: 45,732,080 V1266I probably benign Het
Epc1 A G 18: 6,437,278 L750P probably damaging Het
Fgd6 T A 10: 94,125,628 M1108K probably damaging Het
Gm14496 T C 2: 181,996,012 I293T probably damaging Het
Gm21759 T C 5: 8,180,747 probably benign Het
Igkv3-10 A T 6: 70,573,170 D100V possibly damaging Het
Ipo13 A C 4: 117,903,813 I569M probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Kif26b A G 1: 178,916,068 Y1243C probably benign Het
Map3k12 T C 15: 102,502,075 E489G probably damaging Het
Nrxn1 A G 17: 90,704,208 V331A probably damaging Het
Ntrk1 G A 3: 87,781,797 L529F probably damaging Het
Obscn A T 11: 59,028,533 C6882S possibly damaging Het
Olfr126 A C 17: 37,851,263 T224P probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Ppp1r13b C A 12: 111,835,211 L346F possibly damaging Het
Psg22 T C 7: 18,724,571 S396P probably damaging Het
Rbm19 A G 5: 120,143,405 E797G probably damaging Het
Ros1 T G 10: 52,178,969 D79A probably damaging Het
Scn10a C T 9: 119,658,433 V612I possibly damaging Het
Sema4c A G 1: 36,550,341 V568A probably damaging Het
Soga1 A T 2: 157,030,906 V895E probably damaging Het
Traf5 A G 1: 191,997,675 F472L probably damaging Het
Wasl A T 6: 24,619,187 S445T unknown Het
Zfp541 A G 7: 16,079,695 K758E probably damaging Het
Other mutations in Trim30b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Trim30b APN 7 104366051 nonsense probably null
IGL03297:Trim30b APN 7 104365895 missense probably benign 0.40
R0078:Trim30b UTSW 7 104365895 missense probably benign 0.40
R0416:Trim30b UTSW 7 104363766 missense probably benign 0.08
R0511:Trim30b UTSW 7 104365803 missense possibly damaging 0.91
R0555:Trim30b UTSW 7 104357298 missense possibly damaging 0.73
R0609:Trim30b UTSW 7 104357976 start gained probably benign
R1317:Trim30b UTSW 7 104357335 missense possibly damaging 0.90
R1318:Trim30b UTSW 7 104357335 missense possibly damaging 0.90
R1528:Trim30b UTSW 7 104357299 missense possibly damaging 0.73
R1603:Trim30b UTSW 7 104365812 missense possibly damaging 0.70
R3859:Trim30b UTSW 7 104357280 missense probably benign 0.00
R4052:Trim30b UTSW 7 104357478 missense possibly damaging 0.64
R4576:Trim30b UTSW 7 104357331 missense possibly damaging 0.75
R4577:Trim30b UTSW 7 104357331 missense possibly damaging 0.75
R4578:Trim30b UTSW 7 104357331 missense possibly damaging 0.75
R5705:Trim30b UTSW 7 104357577 missense probably damaging 1.00
R5753:Trim30b UTSW 7 104357337 missense possibly damaging 0.89
R5846:Trim30b UTSW 7 104357371 missense possibly damaging 0.94
R5914:Trim30b UTSW 7 104357365 missense probably damaging 0.98
R6083:Trim30b UTSW 7 104366142 missense probably damaging 0.98
R6862:Trim30b UTSW 7 104363753 missense probably damaging 0.98
R7216:Trim30b UTSW 7 104357362 missense probably benign 0.22
R8062:Trim30b UTSW 7 104366186 start gained probably benign
Z1088:Trim30b UTSW 7 104366100 missense probably damaging 1.00
Posted On2015-04-16