Incidental Mutation 'IGL02271:Rundc3b'
ID 287127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rundc3b
Ensembl Gene ENSMUSG00000040570
Gene Name RUN domain containing 3B
Synonyms LOC242819
Accession Numbers
Essential gene? Possibly essential (E-score: 0.605) question?
Stock # IGL02271
Quality Score
Status
Chromosome 5
Chromosomal Location 8540334-8672952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8542530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 430 (Y430H)
Ref Sequence ENSEMBL: ENSMUSP00000111036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047485] [ENSMUST00000115378]
AlphaFold Q6PDC0
Predicted Effect probably damaging
Transcript: ENSMUST00000047485
AA Change: Y381H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570
AA Change: Y381H

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
RUN 126 188 3.28e-23 SMART
low complexity region 209 221 N/A INTRINSIC
low complexity region 270 278 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115378
AA Change: Y430H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570
AA Change: Y430H

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
RUN 126 188 3.28e-23 SMART
low complexity region 209 221 N/A INTRINSIC
low complexity region 270 278 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,338,520 (GRCm39) probably benign Het
Bms1 C A 6: 118,366,290 (GRCm39) V1068F probably benign Het
Cand1 A T 10: 119,047,626 (GRCm39) N621K probably damaging Het
Cd44 C T 2: 102,661,732 (GRCm39) E418K possibly damaging Het
Clip2 A T 5: 134,531,425 (GRCm39) N758K probably benign Het
Cst11 A T 2: 148,613,161 (GRCm39) Y55N probably damaging Het
Cytip A T 2: 58,023,872 (GRCm39) L316* probably null Het
Ddx52 T C 11: 83,843,057 (GRCm39) M352T probably damaging Het
Fancd2 G A 6: 113,512,720 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,068 (GRCm39) E2573D probably benign Het
Fbxl13 T G 5: 21,695,454 (GRCm39) D646A probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Grid2ip A G 5: 143,374,664 (GRCm39) D928G probably benign Het
Hmgxb3 A G 18: 61,265,285 (GRCm39) L1231P probably damaging Het
Ifitm7 A G 16: 13,801,541 (GRCm39) F73L probably damaging Het
Ikbkb T A 8: 23,155,919 (GRCm39) T583S probably benign Het
Kdm6b G A 11: 69,296,893 (GRCm39) A458V possibly damaging Het
Klra2 T C 6: 131,207,180 (GRCm39) K143R probably benign Het
Kmt2d A G 15: 98,764,309 (GRCm39) S42P possibly damaging Het
Krt78 T A 15: 101,857,028 (GRCm39) M360L probably benign Het
Lamb1 A G 12: 31,350,250 (GRCm39) N677S probably damaging Het
Lrrc9 G A 12: 72,557,155 (GRCm39) V1407I probably benign Het
Myo6 A G 9: 80,168,113 (GRCm39) T426A probably benign Het
Net1 T C 13: 3,937,663 (GRCm39) Y146C probably damaging Het
Nlrp4d T A 7: 10,122,625 (GRCm39) noncoding transcript Het
Notch4 A T 17: 34,787,445 (GRCm39) N335I probably damaging Het
Or14j6 A T 17: 38,215,134 (GRCm39) E232D probably benign Het
Or5ac20 A T 16: 59,104,584 (GRCm39) I92K probably damaging Het
Or8b53 A T 9: 38,667,784 (GRCm39) T267S probably benign Het
Pax3 A T 1: 78,171,969 (GRCm39) H80Q probably damaging Het
Pclo A T 5: 14,729,508 (GRCm39) probably benign Het
Pdgfra A G 5: 75,348,567 (GRCm39) D869G probably damaging Het
Per2 T C 1: 91,373,332 (GRCm39) Y152C probably damaging Het
Pilrb2 T C 5: 137,865,125 (GRCm39) D223G probably benign Het
Rag1 T A 2: 101,473,733 (GRCm39) I470F probably damaging Het
Rap1gap T C 4: 137,445,317 (GRCm39) S333P probably damaging Het
Ryr1 T C 7: 28,793,472 (GRCm39) D1332G probably benign Het
Sgo1 G A 17: 53,986,567 (GRCm39) A208V possibly damaging Het
Skint5 C T 4: 113,794,778 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc28a3 A T 13: 58,706,451 (GRCm39) S597T probably benign Het
Slc4a5 T A 6: 83,248,085 (GRCm39) probably benign Het
Slc52a3 A G 2: 151,847,448 (GRCm39) probably benign Het
Stac3 A G 10: 127,339,768 (GRCm39) D158G probably benign Het
Tdo2 T C 3: 81,871,224 (GRCm39) probably benign Het
Usp25 A T 16: 76,912,335 (GRCm39) E1018V probably damaging Het
Vmn1r46 T A 6: 89,953,886 (GRCm39) F245Y probably damaging Het
Other mutations in Rundc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Rundc3b APN 5 8,619,553 (GRCm39) missense probably damaging 0.98
IGL01726:Rundc3b APN 5 8,570,902 (GRCm39) missense probably benign 0.24
IGL03394:Rundc3b APN 5 8,598,261 (GRCm39) missense possibly damaging 0.93
F5770:Rundc3b UTSW 5 8,672,549 (GRCm39) small deletion probably benign
R0656:Rundc3b UTSW 5 8,619,529 (GRCm39) missense probably damaging 1.00
R1702:Rundc3b UTSW 5 8,562,318 (GRCm39) missense probably benign
R1776:Rundc3b UTSW 5 8,629,050 (GRCm39) missense probably damaging 1.00
R1829:Rundc3b UTSW 5 8,629,117 (GRCm39) missense probably damaging 1.00
R2011:Rundc3b UTSW 5 8,562,409 (GRCm39) critical splice acceptor site probably null
R3606:Rundc3b UTSW 5 8,562,386 (GRCm39) missense probably damaging 1.00
R4841:Rundc3b UTSW 5 8,578,742 (GRCm39) missense probably damaging 1.00
R6452:Rundc3b UTSW 5 8,629,175 (GRCm39) splice site probably null
R6642:Rundc3b UTSW 5 8,629,071 (GRCm39) missense probably damaging 1.00
R7022:Rundc3b UTSW 5 8,562,348 (GRCm39) missense probably null 0.00
R7187:Rundc3b UTSW 5 8,542,506 (GRCm39) missense probably damaging 1.00
R7310:Rundc3b UTSW 5 8,571,011 (GRCm39) nonsense probably null
R7391:Rundc3b UTSW 5 8,609,455 (GRCm39) missense probably benign 0.00
R8523:Rundc3b UTSW 5 8,619,505 (GRCm39) missense probably damaging 0.99
R9709:Rundc3b UTSW 5 8,570,982 (GRCm39) missense probably benign 0.11
R9732:Rundc3b UTSW 5 8,562,406 (GRCm39) missense probably damaging 1.00
V7582:Rundc3b UTSW 5 8,672,549 (GRCm39) small deletion probably benign
Posted On 2015-04-16