Incidental Mutation 'IGL02318:Mis18bp1'
ID 288119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mis18bp1
Ensembl Gene ENSMUSG00000047534
Gene Name MIS18 binding protein 1
Synonyms C79407
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02318
Quality Score
Status
Chromosome 12
Chromosomal Location 65179508-65219363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 65205515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 219 (I219S)
Ref Sequence ENSEMBL: ENSMUSP00000152490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052201] [ENSMUST00000124201] [ENSMUST00000221296] [ENSMUST00000222244]
AlphaFold Q80WQ8
Predicted Effect probably benign
Transcript: ENSMUST00000052201
AA Change: I219S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: I219S

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 noncoding transcript
Transcript: ENSMUST00000149986
Predicted Effect probably benign
Transcript: ENSMUST00000221296
Predicted Effect probably benign
Transcript: ENSMUST00000222244
AA Change: I219S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,561,838 (GRCm39) F116S probably damaging Het
Abhd18 G A 3: 40,884,662 (GRCm39) probably null Het
Akr1c6 G T 13: 4,488,496 (GRCm39) C34F probably benign Het
Ankef1 T A 2: 136,386,695 (GRCm39) I180N possibly damaging Het
Ap1b1 G A 11: 4,969,294 (GRCm39) V217I probably benign Het
Arhgap27 T C 11: 103,223,989 (GRCm39) Q608R probably benign Het
Arhgap32 A G 9: 32,170,627 (GRCm39) T1136A probably benign Het
Ascc3 T A 10: 50,604,250 (GRCm39) Y1323* probably null Het
Bsx A C 9: 40,785,517 (GRCm39) Q15P probably benign Het
Cdh20 A G 1: 104,881,764 (GRCm39) I410V probably null Het
Cfhr4 T A 1: 139,708,835 (GRCm39) E24D probably benign Het
Col20a1 A G 2: 180,648,952 (GRCm39) D945G probably damaging Het
Cox20 A G 1: 178,150,043 (GRCm39) probably null Het
Cplane1 A G 15: 8,204,509 (GRCm39) K96E probably damaging Het
Cpne9 A G 6: 113,270,699 (GRCm39) D305G possibly damaging Het
Cyp2d12 A G 15: 82,439,444 (GRCm39) T33A probably benign Het
Dvl3 A G 16: 20,342,493 (GRCm39) R149G possibly damaging Het
Dysf A G 6: 84,163,446 (GRCm39) I1624V possibly damaging Het
Echs1 A T 7: 139,691,623 (GRCm39) L167Q probably damaging Het
Ect2 A T 3: 27,192,868 (GRCm39) N358K probably benign Het
Eml4 A G 17: 83,748,795 (GRCm39) I230V probably benign Het
Fut10 A G 8: 31,726,286 (GRCm39) Y347C probably damaging Het
Gfm2 C A 13: 97,299,483 (GRCm39) N401K probably damaging Het
Gm4795 C T 10: 44,882,735 (GRCm39) noncoding transcript Het
Gm5592 C A 7: 40,936,212 (GRCm39) T238N probably benign Het
Gm9892 T C 8: 52,649,260 (GRCm39) noncoding transcript Het
Greb1l G T 18: 10,469,388 (GRCm39) M134I possibly damaging Het
Grk3 A G 5: 113,085,669 (GRCm39) Y314H probably damaging Het
Hrh2 T C 13: 54,368,669 (GRCm39) I215T probably damaging Het
Ilkap A G 1: 91,312,960 (GRCm39) probably null Het
Inpp4a T C 1: 37,407,384 (GRCm39) Y233H probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Lmo7 C T 14: 102,137,502 (GRCm39) probably benign Het
Luc7l3 C T 11: 94,183,819 (GRCm39) R440Q probably benign Het
Myo9b G A 8: 71,806,768 (GRCm39) E1581K probably damaging Het
Nfs1 T A 2: 155,966,191 (GRCm39) Q458L probably damaging Het
Numb A T 12: 83,878,692 (GRCm39) probably null Het
Nxf1 G A 19: 8,741,514 (GRCm39) probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or52z1 A G 7: 103,437,475 (GRCm39) V3A probably benign Het
Pacc1 A G 1: 191,080,605 (GRCm39) E275G possibly damaging Het
Pde2a A T 7: 101,152,550 (GRCm39) Y371F possibly damaging Het
Phlpp2 G T 8: 110,666,505 (GRCm39) L1011F probably benign Het
Potefam3e T C 8: 19,797,815 (GRCm39) probably null Het
Prss27 G T 17: 24,264,571 (GRCm39) V245L probably benign Het
Rbm7 T C 9: 48,405,411 (GRCm39) N56S probably damaging Het
Rftn1 T C 17: 50,343,998 (GRCm39) I97V possibly damaging Het
Ric3 T C 7: 108,647,287 (GRCm39) T178A probably damaging Het
Rock1 A G 18: 10,104,323 (GRCm39) probably benign Het
Sall2 T C 14: 52,553,022 (GRCm39) T56A probably damaging Het
Sgk1 T C 10: 21,871,440 (GRCm39) S60P probably damaging Het
Smarcad1 G A 6: 65,050,223 (GRCm39) A281T probably damaging Het
Spta1 A G 1: 174,002,029 (GRCm39) H53R possibly damaging Het
Thbs4 T C 13: 92,900,092 (GRCm39) D468G probably damaging Het
Tmem108 A T 9: 103,376,981 (GRCm39) V156E probably benign Het
Tnfaip3 T G 10: 18,880,215 (GRCm39) R617S probably benign Het
Traf3 A G 12: 111,204,031 (GRCm39) M7V probably benign Het
Ubr3 T A 2: 69,809,741 (GRCm39) I1237N probably damaging Het
Vmn2r23 T C 6: 123,718,795 (GRCm39) V716A probably benign Het
Other mutations in Mis18bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Mis18bp1 APN 12 65,205,215 (GRCm39) missense possibly damaging 0.68
IGL01383:Mis18bp1 APN 12 65,195,763 (GRCm39) missense probably benign 0.05
IGL01736:Mis18bp1 APN 12 65,185,452 (GRCm39) missense probably damaging 1.00
IGL02037:Mis18bp1 APN 12 65,183,522 (GRCm39) critical splice donor site probably null
IGL02210:Mis18bp1 APN 12 65,183,605 (GRCm39) nonsense probably null
IGL02541:Mis18bp1 APN 12 65,208,234 (GRCm39) missense probably damaging 0.97
IGL02664:Mis18bp1 APN 12 65,200,654 (GRCm39) nonsense probably null
IGL02838:Mis18bp1 APN 12 65,183,600 (GRCm39) missense probably damaging 0.99
IGL03031:Mis18bp1 APN 12 65,208,704 (GRCm39) missense probably benign
PIT4453001:Mis18bp1 UTSW 12 65,205,447 (GRCm39) missense probably damaging 0.98
R0555:Mis18bp1 UTSW 12 65,208,227 (GRCm39) missense possibly damaging 0.94
R1169:Mis18bp1 UTSW 12 65,190,057 (GRCm39) nonsense probably null
R1517:Mis18bp1 UTSW 12 65,180,587 (GRCm39) missense probably benign 0.03
R1702:Mis18bp1 UTSW 12 65,208,518 (GRCm39) missense probably benign
R1705:Mis18bp1 UTSW 12 65,196,113 (GRCm39) missense probably benign 0.19
R1888:Mis18bp1 UTSW 12 65,196,102 (GRCm39) missense probably benign 0.01
R1888:Mis18bp1 UTSW 12 65,196,102 (GRCm39) missense probably benign 0.01
R1973:Mis18bp1 UTSW 12 65,195,850 (GRCm39) nonsense probably null
R1990:Mis18bp1 UTSW 12 65,205,468 (GRCm39) missense probably benign 0.03
R2023:Mis18bp1 UTSW 12 65,195,883 (GRCm39) missense probably damaging 0.97
R2043:Mis18bp1 UTSW 12 65,196,192 (GRCm39) missense probably damaging 1.00
R2318:Mis18bp1 UTSW 12 65,187,617 (GRCm39) missense possibly damaging 0.92
R2897:Mis18bp1 UTSW 12 65,180,360 (GRCm39) missense probably benign 0.09
R3120:Mis18bp1 UTSW 12 65,203,762 (GRCm39) splice site probably null
R3845:Mis18bp1 UTSW 12 65,195,916 (GRCm39) missense possibly damaging 0.61
R4578:Mis18bp1 UTSW 12 65,200,655 (GRCm39) missense probably damaging 1.00
R4590:Mis18bp1 UTSW 12 65,205,280 (GRCm39) missense possibly damaging 0.50
R4614:Mis18bp1 UTSW 12 65,200,303 (GRCm39) intron probably benign
R4626:Mis18bp1 UTSW 12 65,187,540 (GRCm39) missense probably damaging 1.00
R4724:Mis18bp1 UTSW 12 65,205,513 (GRCm39) missense probably benign 0.18
R4873:Mis18bp1 UTSW 12 65,208,209 (GRCm39) missense probably benign 0.23
R4875:Mis18bp1 UTSW 12 65,208,209 (GRCm39) missense probably benign 0.23
R5173:Mis18bp1 UTSW 12 65,196,149 (GRCm39) missense possibly damaging 0.96
R5294:Mis18bp1 UTSW 12 65,203,817 (GRCm39) missense probably damaging 1.00
R5540:Mis18bp1 UTSW 12 65,195,520 (GRCm39) missense possibly damaging 0.83
R5560:Mis18bp1 UTSW 12 65,199,590 (GRCm39) missense possibly damaging 0.83
R5584:Mis18bp1 UTSW 12 65,201,550 (GRCm39) missense probably damaging 0.98
R5661:Mis18bp1 UTSW 12 65,195,626 (GRCm39) missense probably benign 0.41
R6235:Mis18bp1 UTSW 12 65,205,182 (GRCm39) missense probably damaging 0.99
R6282:Mis18bp1 UTSW 12 65,195,937 (GRCm39) missense probably benign 0.01
R6284:Mis18bp1 UTSW 12 65,185,561 (GRCm39) missense probably benign 0.32
R6378:Mis18bp1 UTSW 12 65,196,021 (GRCm39) missense probably benign 0.11
R6418:Mis18bp1 UTSW 12 65,205,317 (GRCm39) missense possibly damaging 0.64
R7103:Mis18bp1 UTSW 12 65,196,057 (GRCm39) missense possibly damaging 0.61
R7244:Mis18bp1 UTSW 12 65,208,404 (GRCm39) missense probably damaging 0.96
R7371:Mis18bp1 UTSW 12 65,205,368 (GRCm39) missense probably benign 0.18
R7623:Mis18bp1 UTSW 12 65,195,626 (GRCm39) missense probably benign 0.05
R7845:Mis18bp1 UTSW 12 65,196,102 (GRCm39) missense probably benign 0.01
R7898:Mis18bp1 UTSW 12 65,196,246 (GRCm39) missense probably benign 0.41
R7912:Mis18bp1 UTSW 12 65,199,532 (GRCm39) missense possibly damaging 0.92
R8057:Mis18bp1 UTSW 12 65,195,673 (GRCm39) missense possibly damaging 0.56
R8403:Mis18bp1 UTSW 12 65,201,585 (GRCm39) missense possibly damaging 0.87
R8834:Mis18bp1 UTSW 12 65,208,419 (GRCm39) missense probably benign 0.00
R8905:Mis18bp1 UTSW 12 65,180,401 (GRCm39) critical splice acceptor site probably null
R8996:Mis18bp1 UTSW 12 65,180,632 (GRCm39) missense probably benign 0.24
R9007:Mis18bp1 UTSW 12 65,180,616 (GRCm39) missense probably benign 0.28
R9257:Mis18bp1 UTSW 12 65,180,631 (GRCm39) missense probably benign 0.14
R9299:Mis18bp1 UTSW 12 65,185,538 (GRCm39) missense possibly damaging 0.94
R9534:Mis18bp1 UTSW 12 65,205,234 (GRCm39) missense possibly damaging 0.68
R9593:Mis18bp1 UTSW 12 65,187,628 (GRCm39) missense probably damaging 1.00
R9716:Mis18bp1 UTSW 12 65,205,337 (GRCm39) start gained probably benign
X0058:Mis18bp1 UTSW 12 65,196,000 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16