Incidental Mutation 'IGL01064:Rundc3b'
ID51020
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 essential (E-score: 0.575) question?
Stock #IGL01064
Quality Score
Status
Chromosome5
Chromosomal Location8490334-8622952 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 8569553 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 135 (M135L)
Ref Sequence ENSEMBL: ENSMUSP00000111036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047485] [ENSMUST00000115378]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047485
AA Change: M135L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040108
Gene: ENSMUSG00000040570
AA Change: M135L

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: M135L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111036
Gene: ENSMUSG00000040570
AA Change: M135L

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 T4137S probably benign Het
Abcb1a T C 5: 8,732,388 Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpne6 T C 14: 55,512,730 F106S probably damaging Het
Cysltr1 A T X: 106,578,736 I48N probably damaging Het
Dsg1a A T 18: 20,340,206 I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 L262H probably damaging Het
Gart G A 16: 91,623,007 R871C probably damaging Het
Get4 C T 5: 139,252,522 R20C probably damaging Het
Gm13030 G A 4: 138,873,558 probably benign Het
Gm17654 A T 14: 43,578,998 H49Q unknown Het
Gpnmb A G 6: 49,055,659 I506V probably benign Het
Ist1 T C 8: 109,682,611 I86V probably damaging Het
Kcnip1 C T 11: 33,633,192 D198N probably damaging Het
Kif5c A G 2: 49,694,816 I184V possibly damaging Het
Mink1 A T 11: 70,603,481 M236L probably benign Het
Muc5ac A T 7: 141,807,473 N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 E1326D probably damaging Het
Olfr1329 A T 4: 118,916,894 M191K possibly damaging Het
Olfr1469 T C 19: 13,411,226 I219T probably benign Het
Olfr635 A T 7: 103,979,792 Y200F probably benign Het
Patj T C 4: 98,496,973 S326P possibly damaging Het
Pdha2 T C 3: 141,211,015 H244R possibly damaging Het
Pkhd1 C T 1: 20,534,530 probably benign Het
Ptk7 A T 17: 46,573,566 L746* probably null Het
Rad54b G A 4: 11,604,866 G438D probably damaging Het
Rbm27 T C 18: 42,319,814 V536A possibly damaging Het
Sorcs2 T C 5: 36,065,352 Y353C probably damaging Het
Srcap T C 7: 127,559,892 probably benign Het
Sytl5 A G X: 9,905,595 H66R probably benign Het
Tlr7 T A X: 167,308,211 E93V probably damaging Het
Tmem156 A G 5: 65,079,984 L76S probably damaging Het
Tmem246 C T 4: 49,586,860 V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 F571S probably damaging Het
Trmt10b A G 4: 45,314,347 Y261C possibly damaging Het
Other mutations in Rundc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Rundc3b APN 5 8520902 missense probably benign 0.24
IGL02271:Rundc3b APN 5 8492530 missense probably damaging 1.00
IGL03394:Rundc3b APN 5 8548261 missense possibly damaging 0.93
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 splice site 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
R8523:Rundc3b UTSW 5 8569505 missense probably damaging 0.99
V7582:Rundc3b UTSW 5 8622549 small deletion probably benign
Posted On2013-06-21