Incidental Mutation 'IGL02004:Cnot10'
ID182211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot10
Ensembl Gene ENSMUSG00000056167
Gene NameCCR4-NOT transcription complex, subunit 10
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02004
Quality Score
Status
Chromosome9
Chromosomal Location114585878-114640184 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114622930 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 259 (F259L)
Ref Sequence ENSEMBL: ENSMUSP00000148963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070117] [ENSMUST00000213955] [ENSMUST00000215155] [ENSMUST00000216785] [ENSMUST00000217148]
Predicted Effect probably damaging
Transcript: ENSMUST00000070117
AA Change: F259L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: F259L

DomainStartEndE-ValueType
Blast:TPR 27 60 2e-10 BLAST
coiled coil region 73 107 N/A INTRINSIC
TPR 110 143 4.32e1 SMART
low complexity region 182 198 N/A INTRINSIC
TPR 293 326 3.37e-2 SMART
TPR 355 388 6.75e1 SMART
low complexity region 496 508 N/A INTRINSIC
TPR 643 676 7.87e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213539
Predicted Effect probably benign
Transcript: ENSMUST00000213955
Predicted Effect possibly damaging
Transcript: ENSMUST00000215155
AA Change: F259L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215701
Predicted Effect probably damaging
Transcript: ENSMUST00000216785
AA Change: F259L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000217148
AA Change: F259L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217296
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,191,597 A301E possibly damaging Het
C4b A T 17: 34,739,010 probably benign Het
Cep85 A G 4: 134,167,387 V36A probably damaging Het
Crim1 T C 17: 78,372,575 probably benign Het
Crispld1 G A 1: 17,747,520 A216T probably damaging Het
Cyp8b1 T C 9: 121,914,992 I425V probably benign Het
Fat2 A T 11: 55,282,840 V2349D probably damaging Het
Fer G T 17: 63,924,179 probably null Het
Galnt3 T C 2: 66,095,926 T313A probably damaging Het
Gm4450 T A 3: 98,456,419 R37W probably damaging Het
Igkv10-94 A T 6: 68,704,944 L12* probably null Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Kit T A 5: 75,621,014 S368T probably benign Het
Mark1 G A 1: 184,912,589 S390L possibly damaging Het
Mpped1 C A 15: 83,800,156 S126R probably damaging Het
Myh15 A C 16: 49,110,529 probably benign Het
Nat1 G A 8: 67,491,226 E85K probably benign Het
Olfr1500 T C 19: 13,828,063 D111G possibly damaging Het
Pde3b A T 7: 114,519,617 M664L possibly damaging Het
Phrf1 A G 7: 141,260,333 D1147G probably benign Het
Pth1r G T 9: 110,742,308 probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Slc39a7 A C 17: 34,031,121 probably benign Het
Slc6a1 A G 6: 114,314,325 T520A probably benign Het
St3gal2 C A 8: 110,970,172 A317E probably damaging Het
St3gal3 C A 4: 117,960,039 L139F possibly damaging Het
Sval3 T A 6: 41,972,842 probably benign Het
Syvn1 G A 19: 6,052,407 A502T probably benign Het
Tm4sf1 T C 3: 57,293,078 I68V possibly damaging Het
Tnrc6a T A 7: 123,181,366 N1326K possibly damaging Het
Tvp23b G A 11: 62,892,000 C174Y probably damaging Het
Zfp750 T C 11: 121,512,149 D591G probably benign Het
Other mutations in Cnot10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Cnot10 APN 9 114631855 missense probably benign 0.19
IGL03297:Cnot10 APN 9 114598716 missense possibly damaging 0.87
BB003:Cnot10 UTSW 9 114617815 missense probably damaging 1.00
BB013:Cnot10 UTSW 9 114617815 missense probably damaging 1.00
R0348:Cnot10 UTSW 9 114598770 missense probably benign 0.10
R0390:Cnot10 UTSW 9 114629150 nonsense probably null
R1256:Cnot10 UTSW 9 114610681 missense probably damaging 1.00
R1471:Cnot10 UTSW 9 114591551 missense probably benign 0.00
R1607:Cnot10 UTSW 9 114629095 nonsense probably null
R1721:Cnot10 UTSW 9 114614999 missense probably benign
R1741:Cnot10 UTSW 9 114597824 missense possibly damaging 0.87
R2116:Cnot10 UTSW 9 114626436 missense probably damaging 1.00
R4073:Cnot10 UTSW 9 114622947 missense possibly damaging 0.91
R4074:Cnot10 UTSW 9 114622947 missense possibly damaging 0.91
R4075:Cnot10 UTSW 9 114622947 missense possibly damaging 0.91
R4365:Cnot10 UTSW 9 114631881 nonsense probably null
R4383:Cnot10 UTSW 9 114631881 nonsense probably null
R4385:Cnot10 UTSW 9 114631881 nonsense probably null
R4398:Cnot10 UTSW 9 114631881 nonsense probably null
R4423:Cnot10 UTSW 9 114617920 missense probably damaging 1.00
R4859:Cnot10 UTSW 9 114627464 missense probably damaging 1.00
R4916:Cnot10 UTSW 9 114629134 missense possibly damaging 0.72
R4927:Cnot10 UTSW 9 114617944 missense probably damaging 1.00
R5153:Cnot10 UTSW 9 114613735 missense probably damaging 1.00
R5677:Cnot10 UTSW 9 114629093 missense probably damaging 1.00
R5702:Cnot10 UTSW 9 114629010 missense probably damaging 0.98
R5790:Cnot10 UTSW 9 114625917 splice site probably null
R6190:Cnot10 UTSW 9 114632723 missense probably damaging 1.00
R6353:Cnot10 UTSW 9 114597546 missense probably damaging 1.00
R6463:Cnot10 UTSW 9 114625902 missense probably damaging 1.00
R6819:Cnot10 UTSW 9 114615055 missense probably benign 0.10
R6849:Cnot10 UTSW 9 114631936 missense probably benign 0.01
R6875:Cnot10 UTSW 9 114615107 missense probably benign 0.00
R7071:Cnot10 UTSW 9 114617719 splice site probably null
R7408:Cnot10 UTSW 9 114631826 missense probably benign 0.33
R7412:Cnot10 UTSW 9 114625903 missense probably damaging 1.00
R7645:Cnot10 UTSW 9 114613637 missense probably benign
R7706:Cnot10 UTSW 9 114593438 missense probably damaging 0.98
R7926:Cnot10 UTSW 9 114617815 missense probably damaging 1.00
R8187:Cnot10 UTSW 9 114597488 nonsense probably null
R8322:Cnot10 UTSW 9 114627469 missense probably damaging 0.99
R8412:Cnot10 UTSW 9 114610670 missense probably benign 0.11
R8904:Cnot10 UTSW 9 114601355 missense probably benign 0.06
X0062:Cnot10 UTSW 9 114615134 splice site probably null
Posted On2014-05-07