Incidental Mutation 'IGL03394:Rundc3b'
ID421176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rundc3b
Ensembl Gene ENSMUSG00000040570
Gene NameRUN domain containing 3B
SynonymsLOC242819
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.485) question?
Stock #IGL03394
Quality Score
Status
Chromosome5
Chromosomal Location8490334-8622952 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8548261 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 203 (T203A)
Ref Sequence ENSEMBL: ENSMUSP00000111036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047485] [ENSMUST00000115378]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047485
AA Change: T203A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570
AA Change: T203A

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 possibly damaging
Transcript: ENSMUST00000115378
AA Change: T203A

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570
AA Change: T203A

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,324,351 L242P probably damaging Het
Adam22 T C 5: 8,167,379 I139V probably benign Het
Ahr G T 12: 35,503,752 Y789* probably null Het
Ankrd27 C A 7: 35,607,098 probably null Het
Ano1 T C 7: 144,595,439 probably null Het
Ap4e1 T A 2: 127,063,397 M996K probably benign Het
Bglap T C 3: 88,384,005 K42E probably benign Het
Ccdc30 A T 4: 119,359,582 S220R probably damaging Het
Clic5 A G 17: 44,237,218 N50S probably benign Het
Cyp20a1 T G 1: 60,366,681 D211E probably damaging Het
Dctn1 G A 6: 83,191,284 V408I possibly damaging Het
Exoc6 T C 19: 37,599,572 I551T probably benign Het
Fat4 T A 3: 39,009,364 C4490S probably damaging Het
Fat4 C T 3: 38,892,019 T1687M probably damaging Het
Fras1 T A 5: 96,667,477 I1351N probably damaging Het
Gm10031 A T 1: 156,525,222 Q331L probably benign Het
Igkv2-116 T C 6: 68,152,343 noncoding transcript Het
Iws1 T G 18: 32,088,248 probably benign Het
Mlh1 A T 9: 111,268,243 I61N probably damaging Het
Mtmr7 C T 8: 40,608,929 V38M probably damaging Het
Myh7 G T 14: 54,975,361 A1409D probably damaging Het
Myt1 A T 2: 181,797,845 I387F probably damaging Het
Nars2 A G 7: 97,040,013 N381D possibly damaging Het
Nsd3 T C 8: 25,675,749 probably benign Het
Nup107 A G 10: 117,782,028 S162P probably damaging Het
Olfr904 A G 9: 38,464,221 Y60C probably damaging Het
Oog2 T C 4: 144,194,006 F3S probably benign Het
Oxgr1 T C 14: 120,022,610 M62V possibly damaging Het
Pcgf1 A G 6: 83,079,140 Y75C probably damaging Het
Ppp3cc C A 14: 70,225,028 E396* probably null Het
Ptx4 T A 17: 25,124,675 C300S probably damaging Het
Rassf4 C T 6: 116,641,747 V192I probably damaging Het
Serpinb3c T C 1: 107,271,873 D306G probably benign Het
Sipa1l2 T C 8: 125,491,659 E313G possibly damaging Het
Snx5 G A 2: 144,253,754 A329V probably damaging Het
Stx1b T C 7: 127,807,884 D213G probably damaging Het
Tpd52l2 G A 2: 181,515,086 V172I probably benign Het
Trim50 A T 5: 135,363,953 I241F probably damaging Het
Ttn G A 2: 76,750,416 H23378Y probably benign Het
Vmn1r193 T A 13: 22,219,769 M18L probably benign Het
Vmn1r226 A G 17: 20,688,184 N226S probably benign Het
Vmn2r14 T A 5: 109,219,836 Q430L probably null Het
Xirp2 T A 2: 67,515,194 V2593D probably damaging Het
Zfp169 A T 13: 48,489,924 F576I possibly damaging Het
Zfp667 T C 7: 6,289,439 probably null Het
Zzef1 A G 11: 72,886,775 probably null Het
Other mutations in Rundc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Rundc3b APN 5 8569553 missense probably damaging 0.98
IGL01726:Rundc3b APN 5 8520902 missense probably benign 0.24
IGL02271:Rundc3b APN 5 8492530 missense probably damaging 1.00
F5770:Rundc3b UTSW 5 8622549 small deletion probably benign
R0656:Rundc3b UTSW 5 8569529 missense probably damaging 1.00
R1702:Rundc3b UTSW 5 8512318 missense probably benign
R1776:Rundc3b UTSW 5 8579050 missense probably damaging 1.00
R1829:Rundc3b UTSW 5 8579117 missense probably damaging 1.00
R2011:Rundc3b UTSW 5 8512409 critical splice acceptor site probably null
R3606:Rundc3b UTSW 5 8512386 missense probably damaging 1.00
R4841:Rundc3b UTSW 5 8528742 missense probably damaging 1.00
R6452:Rundc3b UTSW 5 8579175 intron probably null
R6642:Rundc3b UTSW 5 8579071 missense probably damaging 1.00
R7022:Rundc3b UTSW 5 8512348 missense probably null 0.00
R7187:Rundc3b UTSW 5 8492506 missense probably damaging 1.00
R7310:Rundc3b UTSW 5 8521011 nonsense probably null
R7391:Rundc3b UTSW 5 8559455 missense probably benign 0.00
V7582:Rundc3b UTSW 5 8622549 small deletion probably benign
Posted On2016-08-02