Incidental Mutation 'R6642:Rundc3b'
ID 525841
Institutional Source Beutler Lab
Gene Symbol Rundc3b
Ensembl Gene ENSMUSG00000040570
Gene Name RUN domain containing 3B
Synonyms LOC242819
MMRRC Submission 044763-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.605) question?
Stock # R6642 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 8540334-8672952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8629071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 110 (I110N)
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: I110N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570
AA Change: I110N

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: I110N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570
AA Change: I110N

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
Meta Mutation Damage Score 0.4049 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,790 (GRCm39) V215D probably damaging Het
Ablim1 A G 19: 57,119,284 (GRCm39) S267P probably benign Het
Adcy2 C T 13: 68,768,945 (GRCm39) C1061Y probably damaging Het
Aip C A 19: 4,165,149 (GRCm39) C240F probably damaging Het
Aldh1a2 A T 9: 71,160,268 (GRCm39) D98V probably damaging Het
Arhgef40 T C 14: 52,228,419 (GRCm39) probably benign Het
Cplx2 G T 13: 54,526,736 (GRCm39) R48L probably damaging Het
Ctrl C T 8: 106,659,451 (GRCm39) probably null Het
Dnhd1 A G 7: 105,353,006 (GRCm39) T2720A probably benign Het
Fzd1 A G 5: 4,805,696 (GRCm39) Y629H probably damaging Het
Gins1 T C 2: 150,770,038 (GRCm39) probably null Het
Gpr149 C T 3: 62,437,995 (GRCm39) A721T probably damaging Het
Helb A T 10: 119,920,835 (GRCm39) M1036K probably benign Het
Il16 A G 7: 83,337,335 (GRCm39) F127L probably benign Het
Kctd20 A T 17: 29,180,640 (GRCm39) H138L probably damaging Het
Kctd9 T A 14: 67,962,122 (GRCm39) L55* probably null Het
Marf1 C T 16: 13,950,611 (GRCm39) R925H probably benign Het
Mbip A T 12: 56,389,191 (GRCm39) probably benign Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nod1 T G 6: 54,925,014 (GRCm39) D99A probably damaging Het
Olfm4 A G 14: 80,259,107 (GRCm39) K419E probably damaging Het
Or6c214 A T 10: 129,591,232 (GRCm39) L29Q probably damaging Het
Pik3r4 A G 9: 105,521,845 (GRCm39) D137G probably benign Het
Prdm4 T C 10: 85,743,682 (GRCm39) E191G probably benign Het
Rassf10 A T 7: 112,554,784 (GRCm39) T462S probably benign Het
Sgsm3 C T 15: 80,893,901 (GRCm39) R479C probably damaging Het
Tmc7 A T 7: 118,144,834 (GRCm39) Y575* probably null Het
Trim33 T C 3: 103,244,830 (GRCm39) L310S probably damaging Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Ttn T C 2: 76,565,740 (GRCm39) E28204G probably damaging Het
Vmn1r233 A T 17: 21,214,002 (GRCm39) L316Q probably damaging Het
Vmn2r110 A T 17: 20,803,779 (GRCm39) N265K possibly damaging Het
Xylb A G 9: 119,196,559 (GRCm39) H114R probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C 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
IGL02271:Rundc3b APN 5 8,542,530 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTGCAACAGTGGTCATTCAAC -3'
(R):5'- AGCTAGAGGAGGGCTTACTG -3'

Sequencing Primer
(F):5'- CCTCTAAAGGATGTCAACAACTTGGG -3'
(R):5'- CTAGAGGAGGGCTTACTGTTCTTGC -3'
Posted On 2018-06-22