Incidental Mutation 'R5769:Ushbp1'
ID 446442
Institutional Source Beutler Lab
Gene Symbol Ushbp1
Ensembl Gene ENSMUSG00000034911
Gene Name USH1 protein network component harmonin binding protein 1
Synonyms MCC2, 2210404N08Rik
MMRRC Submission 043369-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5769 (G1)
Quality Score 224
Status Validated
Chromosome 8
Chromosomal Location 71836916-71848446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71838863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 570 (N570K)
Ref Sequence ENSEMBL: ENSMUSP00000045668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002466] [ENSMUST00000049184] [ENSMUST00000212626]
AlphaFold Q8R370
Predicted Effect probably benign
Transcript: ENSMUST00000002466
SMART Domains Protein: ENSMUSP00000002466
Gene: ENSMUSG00000002393

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
ZnF_C4 54 125 1.48e-38 SMART
low complexity region 173 185 N/A INTRINSIC
HOLI 191 351 1.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049184
AA Change: N570K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: N570K

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: ENSMUST00000132630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212516
Predicted Effect probably benign
Transcript: ENSMUST00000212626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213000
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,644,595 (GRCm39) V160E possibly damaging Het
Abcb1a A C 5: 8,733,426 (GRCm39) E106A probably benign Het
Acap3 A T 4: 155,986,857 (GRCm39) D371V probably damaging Het
Ahi1 T C 10: 20,835,981 (GRCm39) probably null Het
Coq8a A G 1: 180,006,681 (GRCm39) Y69H probably damaging Het
Defb33 T A 8: 21,387,543 (GRCm39) F27I possibly damaging Het
Dhx29 T A 13: 113,090,251 (GRCm39) L776Q probably damaging Het
Dnah3 G A 7: 119,689,175 (GRCm39) R80* probably null Het
Dtna A T 18: 23,784,611 (GRCm39) D646V probably benign Het
Eml5 T A 12: 98,756,878 (GRCm39) D1964V probably damaging Het
Fbn2 A T 18: 58,238,271 (GRCm39) N575K probably damaging Het
Fbxo38 G A 18: 62,648,036 (GRCm39) P834L probably benign Het
Fyb2 G T 4: 104,870,518 (GRCm39) K706N probably damaging Het
Fyb2 T A 4: 104,872,841 (GRCm39) V738E probably damaging Het
Gcm1 A G 9: 77,972,249 (GRCm39) T397A probably benign Het
Gins1 A T 2: 150,767,918 (GRCm39) E149D probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Grin2a C T 16: 9,579,390 (GRCm39) R291K possibly damaging Het
Hdac10 T C 15: 89,007,819 (GRCm39) M646V probably benign Het
Hes6 G T 1: 91,340,671 (GRCm39) R38S probably damaging Het
Hipk3 G A 2: 104,265,298 (GRCm39) P667S possibly damaging Het
Jrk T C 15: 74,577,917 (GRCm39) Q456R probably benign Het
Klf18 A C 4: 117,586,162 (GRCm39) probably benign Het
Loxl3 A G 6: 83,027,581 (GRCm39) T708A probably damaging Het
Lyg1 T C 1: 37,989,831 (GRCm39) S19G unknown Het
Magel2 T A 7: 62,027,861 (GRCm39) M255K probably benign Het
Mctp1 A G 13: 76,907,927 (GRCm39) D242G probably damaging Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mms19 A G 19: 41,952,825 (GRCm39) F95L probably damaging Het
Nav1 A G 1: 135,379,995 (GRCm39) L1569P probably damaging Het
Nup188 A G 2: 30,220,747 (GRCm39) E940G probably benign Het
Oas1d T C 5: 121,054,917 (GRCm39) F163S probably benign Het
Odf2l A G 3: 144,841,492 (GRCm39) K304R possibly damaging Het
Otud3 T A 4: 138,625,421 (GRCm39) N211I possibly damaging Het
Pabpc6 A T 17: 9,886,772 (GRCm39) L593* probably null Het
Pdcd11 T A 19: 47,091,076 (GRCm39) L350Q possibly damaging Het
Pdia4 A G 6: 47,792,446 (GRCm39) probably benign Het
Pik3cb G A 9: 98,975,212 (GRCm39) Q223* probably null Het
Plb1 G A 5: 32,474,866 (GRCm39) V696M probably benign Het
Ppp2r5a T C 1: 191,104,863 (GRCm39) D61G probably benign Het
Preb G T 5: 31,115,635 (GRCm39) Y87* probably null Het
Rdh16f2 A T 10: 127,712,758 (GRCm39) N252I probably benign Het
Rida T C 15: 34,484,704 (GRCm39) probably benign Het
Rxrb T C 17: 34,251,821 (GRCm39) probably benign Het
Sis T A 3: 72,835,568 (GRCm39) K931N probably damaging Het
Srcap T A 7: 127,158,994 (GRCm39) probably benign Het
Srp68 A G 11: 116,137,495 (GRCm39) S525P probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Synj1 A G 16: 90,735,141 (GRCm39) probably benign Het
Syt12 T C 19: 4,501,072 (GRCm39) Y326C probably damaging Het
Tesk2 A G 4: 116,659,512 (GRCm39) probably null Het
Tmem41b G A 7: 109,577,945 (GRCm39) T113I possibly damaging Het
Tmtc2 T C 10: 105,205,907 (GRCm39) I463V probably benign Het
Trak1 A T 9: 121,277,904 (GRCm39) D320V probably damaging Het
Vmn1r33 T A 6: 66,588,817 (GRCm39) I246F possibly damaging Het
Vmn2r54 A C 7: 12,349,209 (GRCm39) L791R possibly damaging Het
Washc1 A T 17: 66,425,111 (GRCm39) T372S probably benign Het
Zfp1005 A G 2: 150,110,198 (GRCm39) E296G possibly damaging Het
Other mutations in Ushbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Ushbp1 APN 8 71,840,076 (GRCm39) missense probably benign
IGL02511:Ushbp1 APN 8 71,843,581 (GRCm39) missense probably null 0.00
IGL02586:Ushbp1 APN 8 71,841,394 (GRCm39) splice site probably benign
IGL02929:Ushbp1 APN 8 71,847,120 (GRCm39) missense probably damaging 0.99
IGL03127:Ushbp1 APN 8 71,847,020 (GRCm39) missense possibly damaging 0.65
R0012:Ushbp1 UTSW 8 71,847,684 (GRCm39) unclassified probably benign
R0012:Ushbp1 UTSW 8 71,847,684 (GRCm39) unclassified probably benign
R0091:Ushbp1 UTSW 8 71,841,614 (GRCm39) missense possibly damaging 0.65
R0097:Ushbp1 UTSW 8 71,843,357 (GRCm39) missense probably damaging 0.98
R0097:Ushbp1 UTSW 8 71,843,357 (GRCm39) missense probably damaging 0.98
R0242:Ushbp1 UTSW 8 71,842,762 (GRCm39) nonsense probably null
R0242:Ushbp1 UTSW 8 71,842,762 (GRCm39) nonsense probably null
R0276:Ushbp1 UTSW 8 71,847,293 (GRCm39) missense possibly damaging 0.83
R0308:Ushbp1 UTSW 8 71,843,697 (GRCm39) missense probably damaging 0.99
R0471:Ushbp1 UTSW 8 71,847,021 (GRCm39) nonsense probably null
R0726:Ushbp1 UTSW 8 71,841,391 (GRCm39) splice site probably benign
R0894:Ushbp1 UTSW 8 71,842,868 (GRCm39) splice site probably null
R1451:Ushbp1 UTSW 8 71,838,663 (GRCm39) missense possibly damaging 0.53
R1797:Ushbp1 UTSW 8 71,841,567 (GRCm39) missense probably damaging 0.99
R2393:Ushbp1 UTSW 8 71,847,132 (GRCm39) missense probably benign 0.05
R2905:Ushbp1 UTSW 8 71,840,179 (GRCm39) nonsense probably null
R4567:Ushbp1 UTSW 8 71,838,361 (GRCm39) missense probably damaging 0.99
R4717:Ushbp1 UTSW 8 71,838,313 (GRCm39) missense probably damaging 0.99
R4977:Ushbp1 UTSW 8 71,847,693 (GRCm39) critical splice donor site probably null
R5151:Ushbp1 UTSW 8 71,847,799 (GRCm39) missense possibly damaging 0.85
R5584:Ushbp1 UTSW 8 71,843,623 (GRCm39) missense possibly damaging 0.77
R5760:Ushbp1 UTSW 8 71,840,012 (GRCm39) missense probably damaging 0.96
R6186:Ushbp1 UTSW 8 71,843,647 (GRCm39) missense possibly damaging 0.91
R6661:Ushbp1 UTSW 8 71,843,305 (GRCm39) missense unknown
R7172:Ushbp1 UTSW 8 71,841,410 (GRCm39) missense possibly damaging 0.85
R7252:Ushbp1 UTSW 8 71,847,246 (GRCm39) missense probably benign
R7352:Ushbp1 UTSW 8 71,841,525 (GRCm39) missense possibly damaging 0.46
R7650:Ushbp1 UTSW 8 71,843,568 (GRCm39) missense possibly damaging 0.77
R7891:Ushbp1 UTSW 8 71,841,422 (GRCm39) missense possibly damaging 0.86
R8491:Ushbp1 UTSW 8 71,845,041 (GRCm39) missense probably benign
R9126:Ushbp1 UTSW 8 71,843,653 (GRCm39) missense probably damaging 0.98
R9189:Ushbp1 UTSW 8 71,841,539 (GRCm39) missense probably benign
R9680:Ushbp1 UTSW 8 71,838,573 (GRCm39) missense possibly damaging 0.86
R9770:Ushbp1 UTSW 8 71,838,868 (GRCm39) missense possibly damaging 0.91
Z1176:Ushbp1 UTSW 8 71,843,333 (GRCm39) missense probably benign
Z1177:Ushbp1 UTSW 8 71,847,225 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCTGAGTCACCTGTTCCAGCTG -3'
(R):5'- GGCGAAGACCCCATTTCTTATG -3'

Sequencing Primer
(F):5'- TGTTCCAGCTGCTGCCG -3'
(R):5'- CAGGCAGATCTCTGAATTTGAGCC -3'
Posted On 2016-11-21