Incidental Mutation 'IGL02586:Ushbp1'
ID299565
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? Non essential (E-score: 0.000) question?
Stock #IGL02586
Quality Score
Status
Chromosome8
Chromosomal Location71384272-71395802 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 71388750 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049184] [ENSMUST00000212626]
Predicted Effect probably benign
Transcript: ENSMUST00000049184
SMART Domains Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911

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: ENSMUST00000212496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212516
Predicted Effect probably benign
Transcript: ENSMUST00000212626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213000
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 37,044,608 W4626* probably null Het
Abca13 A G 11: 9,293,983 I1949V possibly damaging Het
Anapc2 T A 2: 25,285,096 M742K probably benign Het
Arhgef12 T A 9: 43,005,904 K380* probably null Het
Armc1 G T 3: 19,134,028 probably benign Het
Diaph3 A T 14: 86,986,076 L323* probably null Het
Fbxo11 C T 17: 88,011,283 probably benign Het
Flywch1 C T 17: 23,755,702 A655T probably benign Het
Frmpd1 A G 4: 45,285,160 D1327G probably damaging Het
Ggact G A 14: 122,891,530 T91I possibly damaging Het
Gm10250 T A 15: 5,120,930 probably benign Het
Gsdmc4 T C 15: 63,893,792 S303G probably damaging Het
Helt T C 8: 46,293,239 E15G probably damaging Het
Kcnf1 T A 12: 17,176,143 S26C probably benign Het
Lilra6 T C 7: 3,908,820 T280A probably benign Het
Lipo3 A T 19: 33,582,139 D110E possibly damaging Het
Mepe C A 5: 104,337,450 T152N probably benign Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Olfr807 A G 10: 129,754,655 I265T possibly damaging Het
Olfr994 T C 2: 85,430,466 D121G possibly damaging Het
Peg3 T C 7: 6,710,069 D718G probably benign Het
Phf2 A T 13: 48,813,858 probably benign Het
Pigc A T 1: 161,970,934 I162F probably benign Het
Raf1 A G 6: 115,620,306 L11P probably damaging Het
Rlf T C 4: 121,150,064 Y573C probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf149 T G 1: 39,565,215 Q189P probably benign Het
Slc11a1 T C 1: 74,385,132 probably benign Het
Slc22a12 C T 19: 6,540,457 M234I probably benign Het
Slc28a1 A T 7: 81,164,419 I455F probably benign Het
Slc35f5 T G 1: 125,584,536 L358V probably damaging Het
Slc47a1 A T 11: 61,344,321 V562D probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Vmn1r88 T A 7: 13,177,808 Y30* probably null Het
Vmn2r27 A T 6: 124,224,475 Y174* probably null Het
Wwox T C 8: 114,712,207 Y338H possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zufsp A T 10: 33,935,265 probably benign 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
IGL02929:Ushbp1 APN 8 71394476 missense probably damaging 0.99
IGL03127:Ushbp1 APN 8 71394376 missense possibly damaging 0.65
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
R6661:Ushbp1 UTSW 8 71390661 missense unknown
R7172:Ushbp1 UTSW 8 71388766 missense possibly damaging 0.85
R7252:Ushbp1 UTSW 8 71394602 missense probably benign
R7352:Ushbp1 UTSW 8 71388881 missense possibly damaging 0.46
R7650:Ushbp1 UTSW 8 71390924 missense possibly damaging 0.77
R7891:Ushbp1 UTSW 8 71388778 missense possibly damaging 0.86
R7974:Ushbp1 UTSW 8 71388778 missense possibly damaging 0.86
Z1176:Ushbp1 UTSW 8 71390689 missense probably benign
Z1177:Ushbp1 UTSW 8 71394581 missense probably damaging 0.97
Posted On2015-04-16