Incidental Mutation 'IGL03127:Ushbp1'
ID410196
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ushbp1
Ensembl Gene ENSMUSG00000034911
Gene NameUSH1 protein network component harmonin binding protein 1
SynonymsMCC2, 2210404N08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL03127
Quality Score
Status
Chromosome8
Chromosomal Location71384272-71395802 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 71394376 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 204 (Q204L)
Ref Sequence ENSEMBL: ENSMUSP00000045668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002473] [ENSMUST00000049184] [ENSMUST00000212626]
Predicted Effect probably benign
Transcript: ENSMUST00000002473
SMART Domains Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 321 331 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000049184
AA Change: Q204L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: Q204L

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
coiled coil region 179 218 N/A INTRINSIC
Pfam:MCC-bdg_PDZ 288 352 1.3e-29 PFAM
Blast:HOLI 467 623 2e-24 BLAST
coiled coil region 628 662 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212516
Predicted Effect possibly damaging
Transcript: ENSMUST00000212626
AA Change: Q204L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213093
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Amdhd2 A G 17: 24,157,738 probably null Het
Apol7c A G 15: 77,525,906 M280T probably benign Het
Atl2 T C 17: 79,852,854 M264V probably damaging Het
Ccdc141 C T 2: 77,029,235 probably null Het
Dtx4 T C 19: 12,486,500 probably benign Het
Dyrk4 G A 6: 126,897,171 T152I possibly damaging Het
F5 T A 1: 164,193,538 I1194N probably benign Het
Gadl1 C T 9: 115,948,664 T126M probably damaging Het
Gcnt7 A T 2: 172,454,411 C110* probably null Het
H2-M9 C T 17: 36,640,822 V254M possibly damaging Het
Hadha A T 5: 30,134,186 Het
Kit T C 5: 75,641,188 M621T probably benign Het
Krt73 T C 15: 101,795,840 M422V probably benign Het
Neil2 T C 14: 63,191,808 H12R probably benign Het
Nrsn1 A G 13: 25,253,717 L76P probably damaging Het
Olfr1393 T G 11: 49,280,772 V208G possibly damaging Het
Olfr906 C A 9: 38,488,586 Q186K probably benign Het
Olfr924 T A 9: 38,848,209 Y32N probably damaging Het
Pot1a G A 6: 25,794,616 A23V probably benign Het
Ppp1r14d A G 2: 119,218,360 *147Q probably null Het
Ptger2 T C 14: 45,002,005 probably benign Het
Syne3 A T 12: 104,943,428 D716E probably benign Het
Tbc1d9 A G 8: 83,249,473 N554D probably damaging Het
Other mutations in Ushbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Ushbp1 APN 8 71387432 missense probably benign
IGL02511:Ushbp1 APN 8 71390937 missense probably null 0.00
IGL02586:Ushbp1 APN 8 71388750
IGL02929:Ushbp1 APN 8 71394476 missense probably damaging 0.99
R0012:Ushbp1 UTSW 8 71395040 unclassified probably benign
R0012:Ushbp1 UTSW 8 71395040 unclassified probably benign
R0091:Ushbp1 UTSW 8 71388970 missense possibly damaging 0.65
R0097:Ushbp1 UTSW 8 71390713 missense probably damaging 0.98
R0097:Ushbp1 UTSW 8 71390713 missense probably damaging 0.98
R0242:Ushbp1 UTSW 8 71390118 nonsense probably null
R0242:Ushbp1 UTSW 8 71390118 nonsense probably null
R0276:Ushbp1 UTSW 8 71394649 missense possibly damaging 0.83
R0308:Ushbp1 UTSW 8 71391053 missense probably damaging 0.99
R0471:Ushbp1 UTSW 8 71394377 nonsense probably null
R0726:Ushbp1 UTSW 8 71388747 splice site probably benign
R0894:Ushbp1 UTSW 8 71390224 intron probably null
R1451:Ushbp1 UTSW 8 71386019 missense possibly damaging 0.53
R1797:Ushbp1 UTSW 8 71388923 missense probably damaging 0.99
R2393:Ushbp1 UTSW 8 71394488 missense probably benign 0.05
R2905:Ushbp1 UTSW 8 71387535 nonsense probably null
R4567:Ushbp1 UTSW 8 71385717 missense probably damaging 0.99
R4717:Ushbp1 UTSW 8 71385669 missense probably damaging 0.99
R4977:Ushbp1 UTSW 8 71395049 critical splice donor site probably null
R5151:Ushbp1 UTSW 8 71395155 missense possibly damaging 0.85
R5584:Ushbp1 UTSW 8 71390979 missense possibly damaging 0.77
R5760:Ushbp1 UTSW 8 71387368 missense probably damaging 0.96
R5769:Ushbp1 UTSW 8 71386219 missense probably benign
R6186:Ushbp1 UTSW 8 71391003 missense possibly damaging 0.91
Posted On2016-08-02