Incidental Mutation 'IGL01736:Mis18bp1'
ID 105716
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 # IGL01736
Quality Score
Status
Chromosome 12
Chromosomal Location 65179508-65219363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65185452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 905 (H905L)
Ref Sequence ENSEMBL: ENSMUSP00000052109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052201]
AlphaFold Q80WQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000052201
AA Change: H905L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: H905L

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 noncoding transcript
Transcript: ENSMUST00000140391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141456
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S 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
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
IGL02318:Mis18bp1 APN 12 65,205,515 (GRCm39) missense probably benign 0.04
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 2014-01-21