Incidental Mutation 'IGL03031:Mis18bp1'
ID408458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mis18bp1
Ensembl Gene ENSMUSG00000047534
Gene NameMIS18 binding protein 1
SynonymsC79407
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03031
Quality Score
Status
Chromosome12
Chromosomal Location65132734-65172604 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65161930 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 3 (V3A)
Ref Sequence ENSEMBL: ENSMUSP00000152490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052201] [ENSMUST00000124201] [ENSMUST00000221296] [ENSMUST00000222244]
Predicted Effect probably benign
Transcript: ENSMUST00000052201
AA Change: V3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: V3A

DomainStartEndE-ValueType
low complexity region 319 332 N/A INTRINSIC
Pfam:SANTA 336 425 1.4e-27 PFAM
coiled coil region 428 448 N/A INTRINSIC
coiled coil region 645 668 N/A INTRINSIC
SANT 742 794 9.48e-6 SMART
low complexity region 874 884 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140391
Predicted Effect probably benign
Transcript: ENSMUST00000221296
Predicted Effect probably benign
Transcript: ENSMUST00000222244
AA Change: V3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,314,024 D753G probably benign Het
Adat2 T C 10: 13,556,846 probably benign Het
Ahsa2 A G 11: 23,490,426 L275S probably benign Het
Arhgef38 C T 3: 133,132,067 D118N possibly damaging Het
Bicra A T 7: 15,975,801 H1097Q probably benign Het
C4b T C 17: 34,731,130 T1389A possibly damaging Het
Cd180 A G 13: 102,705,027 S194G probably benign Het
Chgb C A 2: 132,793,514 Q459K probably benign Het
Clvs1 G T 4: 9,449,385 probably benign Het
Cpox G A 16: 58,672,560 G186R probably damaging Het
Cul5 A G 9: 53,642,675 probably benign Het
Epsti1 G A 14: 77,974,581 R249K probably benign Het
Gabrg1 A T 5: 70,794,682 Y90* probably null Het
Gabrp T C 11: 33,554,980 R274G probably damaging Het
Gm597 A G 1: 28,778,583 F123L probably benign Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Gm9825 T C 6: 7,982,857 noncoding transcript Het
Hectd4 C T 5: 121,348,794 T3284M possibly damaging Het
Hoxc9 T C 15: 102,984,090 M245T probably damaging Het
Lpar6 T C 14: 73,239,442 V281A possibly damaging Het
Med18 G T 4: 132,459,613 Q192K possibly damaging Het
Mpped2 G T 2: 106,783,623 probably benign Het
Ms4a10 A G 19: 10,968,671 V32A probably benign Het
Mthfd1l T A 10: 4,018,601 probably null Het
Myh1 A T 11: 67,206,387 Q422L possibly damaging Het
Myo3b A T 2: 70,255,377 Q819L possibly damaging Het
Ncoa1 G A 12: 4,274,818 T921I possibly damaging Het
Olfr807 A G 10: 129,755,369 L27P possibly damaging Het
Olfr894 A C 9: 38,219,065 T81P probably damaging Het
Olfr960 A G 9: 39,623,398 I92V probably damaging Het
Phf3 A G 1: 30,804,653 S1742P probably benign Het
Plxdc2 G A 2: 16,650,232 probably null Het
Poc5 A G 13: 96,401,615 T263A probably benign Het
Prss41 T A 17: 23,842,422 I132F probably damaging Het
Pxylp1 A G 9: 96,825,142 I329T probably benign Het
Rbm27 T C 18: 42,333,399 probably null Het
Rpgrip1l A T 8: 91,260,783 V882E probably damaging Het
Sec16b T C 1: 157,560,799 S579P probably benign Het
Senp7 A G 16: 56,175,886 E776G probably damaging Het
Smc2 A G 4: 52,449,638 I207V probably benign Het
Spats2 A G 15: 99,180,688 T211A probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Syt11 A T 3: 88,748,841 M1K probably null Het
Tacc2 A G 7: 130,623,855 T757A possibly damaging Het
Tecta A C 9: 42,345,493 M1629R probably benign Het
Ufsp2 T A 8: 45,984,100 I101N probably damaging Het
Unc13b T A 4: 43,235,368 C892S probably damaging Het
Ush1c A G 7: 46,224,937 probably benign Het
Vwde A T 6: 13,208,382 V167E probably benign Het
Wdfy4 A G 14: 33,140,651 L588P probably damaging Het
Zfyve1 T C 12: 83,574,821 T267A probably damaging Het
Other mutations in Mis18bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Mis18bp1 APN 12 65158441 missense possibly damaging 0.68
IGL01383:Mis18bp1 APN 12 65148989 missense probably benign 0.05
IGL01736:Mis18bp1 APN 12 65138678 missense probably damaging 1.00
IGL02037:Mis18bp1 APN 12 65136748 critical splice donor site probably null
IGL02210:Mis18bp1 APN 12 65136831 nonsense probably null
IGL02318:Mis18bp1 APN 12 65158741 missense probably benign 0.04
IGL02541:Mis18bp1 APN 12 65161460 missense probably damaging 0.97
IGL02664:Mis18bp1 APN 12 65153880 nonsense probably null
IGL02838:Mis18bp1 APN 12 65136826 missense probably damaging 0.99
PIT4453001:Mis18bp1 UTSW 12 65158673 missense probably damaging 0.98
R0555:Mis18bp1 UTSW 12 65161453 missense possibly damaging 0.94
R1169:Mis18bp1 UTSW 12 65143283 nonsense probably null
R1517:Mis18bp1 UTSW 12 65133813 missense probably benign 0.03
R1702:Mis18bp1 UTSW 12 65161744 missense probably benign
R1705:Mis18bp1 UTSW 12 65149339 missense probably benign 0.19
R1888:Mis18bp1 UTSW 12 65149328 missense probably benign 0.01
R1888:Mis18bp1 UTSW 12 65149328 missense probably benign 0.01
R1973:Mis18bp1 UTSW 12 65149076 nonsense probably null
R1990:Mis18bp1 UTSW 12 65158694 missense probably benign 0.03
R2023:Mis18bp1 UTSW 12 65149109 missense probably damaging 0.97
R2043:Mis18bp1 UTSW 12 65149418 missense probably damaging 1.00
R2318:Mis18bp1 UTSW 12 65140843 missense possibly damaging 0.92
R2897:Mis18bp1 UTSW 12 65133586 missense probably benign 0.09
R3120:Mis18bp1 UTSW 12 65156988 splice site probably null
R3845:Mis18bp1 UTSW 12 65149142 missense possibly damaging 0.61
R4578:Mis18bp1 UTSW 12 65153881 missense probably damaging 1.00
R4590:Mis18bp1 UTSW 12 65158506 missense possibly damaging 0.50
R4614:Mis18bp1 UTSW 12 65153529 intron probably benign
R4626:Mis18bp1 UTSW 12 65140766 missense probably damaging 1.00
R4724:Mis18bp1 UTSW 12 65158739 missense probably benign 0.18
R4873:Mis18bp1 UTSW 12 65161435 missense probably benign 0.23
R4875:Mis18bp1 UTSW 12 65161435 missense probably benign 0.23
R5173:Mis18bp1 UTSW 12 65149375 missense possibly damaging 0.96
R5294:Mis18bp1 UTSW 12 65157043 missense probably damaging 1.00
R5540:Mis18bp1 UTSW 12 65148746 missense possibly damaging 0.83
R5560:Mis18bp1 UTSW 12 65152816 missense possibly damaging 0.83
R5584:Mis18bp1 UTSW 12 65154776 missense probably damaging 0.98
R5661:Mis18bp1 UTSW 12 65148852 missense probably benign 0.41
R6235:Mis18bp1 UTSW 12 65158408 missense probably damaging 0.99
R6282:Mis18bp1 UTSW 12 65149163 missense probably benign 0.01
R6284:Mis18bp1 UTSW 12 65138787 missense probably benign 0.32
R6378:Mis18bp1 UTSW 12 65149247 missense probably benign 0.11
R6418:Mis18bp1 UTSW 12 65158543 missense possibly damaging 0.64
R7103:Mis18bp1 UTSW 12 65149283 missense possibly damaging 0.61
R7244:Mis18bp1 UTSW 12 65161630 missense probably damaging 0.96
R7371:Mis18bp1 UTSW 12 65158594 missense probably benign 0.18
R7623:Mis18bp1 UTSW 12 65148852 missense probably benign 0.05
X0058:Mis18bp1 UTSW 12 65149226 missense probably damaging 0.99
Posted On2016-08-02