Incidental Mutation 'R6284:Mis18bp1'
ID 508129
Institutional Source Beutler Lab
Gene Symbol Mis18bp1
Ensembl Gene ENSMUSG00000047534
Gene Name MIS18 binding protein 1
Synonyms C79407
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 65179508-65219363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65185561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 869 (F869L)
Ref Sequence ENSEMBL: ENSMUSP00000052109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052201]
AlphaFold Q80WQ8
Predicted Effect probably benign
Transcript: ENSMUST00000052201
AA Change: F869L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: F869L

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
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGATAACCCATAACTTGCTGAAAC -3'
(R):5'- TGTTCTCCACAGCCTTTAGAAATAG -3'

Sequencing Primer
(F):5'- CATAACTTGCTGAAACTAAACATGC -3'
(R):5'- CAAGAGAAAATGGTTTTTGTAGT -3'
Posted On 2018-03-15