Incidental Mutation 'IGL01701:Trim30b'
ID104468
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 #IGL01701
Quality Score
Status
Chromosome7
Chromosomal Location104355382-104369884 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to C at 104366051 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 43 (Y43*)
Ref Sequence ENSEMBL: ENSMUSP00000131747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106831] [ENSMUST00000164410]
Predicted Effect probably null
Transcript: ENSMUST00000106831
AA Change: Y43*
SMART Domains Protein: ENSMUSP00000102444
Gene: ENSMUSG00000052749
AA Change: Y43*

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 null
Transcript: ENSMUST00000164410
AA Change: Y43*
SMART Domains Protein: ENSMUSP00000131747
Gene: ENSMUSG00000052749
AA Change: Y43*

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Trim30b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02262:Trim30b APN 7 104365900 missense probably damaging 0.99
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
Z1088:Trim30b UTSW 7 104366100 missense probably damaging 1.00
Posted On2014-01-21