Incidental Mutation 'IGL01726:Rundc3b'
ID 105296
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 # IGL01726
Quality Score
Status
Chromosome 5
Chromosomal Location 8540334-8672952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8570902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 306 (K306E)
Ref Sequence ENSEMBL: ENSMUSP00000111036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047485] [ENSMUST00000115378]
AlphaFold Q6PDC0
Predicted Effect probably benign
Transcript: ENSMUST00000047485
AA Change: K306E

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570
AA Change: K306E

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 benign
Transcript: ENSMUST00000115378
AA Change: K306E

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570
AA Change: K306E

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,638,147 (GRCm39) probably null Het
Arpc2 A G 1: 74,287,338 (GRCm39) T53A probably benign Het
Ccdc170 C A 10: 4,499,713 (GRCm39) L545M probably benign Het
Ccm2l T C 2: 152,922,821 (GRCm39) probably benign Het
Celsr1 T C 15: 85,810,391 (GRCm39) N2166D probably benign Het
Clca4b T G 3: 144,634,103 (GRCm39) D104A probably damaging Het
Clcnka C T 4: 141,120,051 (GRCm39) probably null Het
Clip2 A T 5: 134,551,518 (GRCm39) N201K probably damaging Het
Cyp1a2 G A 9: 57,589,485 (GRCm39) L110F possibly damaging Het
Dhtkd1 T C 2: 5,947,467 (GRCm39) T6A unknown Het
Enthd1 A C 15: 80,336,652 (GRCm39) L594R probably damaging Het
Espnl A G 1: 91,272,626 (GRCm39) D618G probably benign Het
Gm6096 A T 7: 33,950,904 (GRCm39) I148F probably damaging Het
Hsf5 C T 11: 87,526,951 (GRCm39) T541I probably benign Het
Il18r1 A G 1: 40,537,563 (GRCm39) S443G possibly damaging Het
Il1a T C 2: 129,146,640 (GRCm39) D151G possibly damaging Het
Ints1 A G 5: 139,754,166 (GRCm39) probably benign Het
Kcnh1 A C 1: 192,188,164 (GRCm39) D875A possibly damaging Het
Naip6 T A 13: 100,439,760 (GRCm39) I336F probably benign Het
Napepld A G 5: 21,880,657 (GRCm39) F246S possibly damaging Het
Nova1 C T 12: 46,760,280 (GRCm39) probably null Het
Nsa2 C A 13: 97,268,525 (GRCm39) A181S probably damaging Het
Ntn5 C A 7: 45,343,671 (GRCm39) R337S probably damaging Het
Nynrin T C 14: 56,101,611 (GRCm39) S427P probably benign Het
Or52e5 A G 7: 104,718,836 (GRCm39) E54G probably damaging Het
Pcgf1 T A 6: 83,055,867 (GRCm39) probably null Het
Pfn4 T A 12: 4,824,446 (GRCm39) L58I probably benign Het
Plekha1 C A 7: 130,499,059 (GRCm39) P116Q probably damaging Het
Pou5f2 T C 13: 78,173,300 (GRCm39) S81P possibly damaging Het
Prag1 A G 8: 36,570,146 (GRCm39) D243G probably damaging Het
Rbm26 G A 14: 105,389,943 (GRCm39) P227L probably damaging Het
Rgl1 A T 1: 152,394,904 (GRCm39) N756K probably damaging Het
Rhou A T 8: 124,380,880 (GRCm39) T66S possibly damaging Het
Rspo3 A T 10: 29,380,704 (GRCm39) D103E probably benign Het
Slc25a32 A G 15: 38,965,466 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Tars3 A G 7: 65,332,566 (GRCm39) T556A possibly damaging Het
Tmem266 A G 9: 55,342,486 (GRCm39) K324E probably benign Het
Tnrc6c T C 11: 117,640,161 (GRCm39) probably benign Het
Trappc9 A T 15: 72,817,971 (GRCm39) S452T probably damaging Het
Tspear T A 10: 77,717,121 (GRCm39) probably benign Het
Ttll5 T G 12: 85,965,708 (GRCm39) I571S probably benign Het
Ttn T C 2: 76,797,433 (GRCm39) T544A probably benign Het
Ubn1 T C 16: 4,891,334 (GRCm39) probably null Het
Ubr2 C A 17: 47,303,907 (GRCm39) probably benign Het
Usp21 A T 1: 171,111,574 (GRCm39) W360R probably damaging Het
Vmn2r62 A T 7: 42,414,526 (GRCm39) L639H probably damaging Het
Zc3h7b T A 15: 81,656,000 (GRCm39) I116N possibly damaging Het
Zfp618 C T 4: 63,050,872 (GRCm39) T551I probably damaging Het
Zfp804b T C 5: 7,230,707 (GRCm39) probably benign Het
Zkscan8 T C 13: 21,704,973 (GRCm39) H322R probably benign Het
Zwint T G 10: 72,493,019 (GRCm39) probably null Het
Other mutations in Rundc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Rundc3b APN 5 8,619,553 (GRCm39) missense probably damaging 0.98
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
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 2014-01-21