Incidental Mutation 'IGL00834:Cnot3'
ID9758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot3
Ensembl Gene ENSMUSG00000035632
Gene NameCCR4-NOT transcription complex, subunit 3
SynonymsA930039N10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00834
Quality Score
Status
Chromosome7
Chromosomal Location3645268-3661109 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 3650855 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 2 (A2V)
Ref Sequence ENSEMBL: ENSMUSP00000039098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038913] [ENSMUST00000206287]
Predicted Effect probably damaging
Transcript: ENSMUST00000038913
AA Change: A2V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: A2V

DomainStartEndE-ValueType
Pfam:Not3 3 232 6.5e-99 PFAM
low complexity region 257 274 N/A INTRINSIC
low complexity region 316 338 N/A INTRINSIC
low complexity region 384 426 N/A INTRINSIC
low complexity region 441 450 N/A INTRINSIC
low complexity region 473 509 N/A INTRINSIC
low complexity region 570 587 N/A INTRINSIC
Pfam:NOT2_3_5 618 745 3.7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132344
SMART Domains Protein: ENSMUSP00000117297
Gene: ENSMUSG00000035632

DomainStartEndE-ValueType
Pfam:Not3 1 189 8.9e-77 PFAM
low complexity region 214 231 N/A INTRINSIC
SCOP:d1cpo_2 260 335 7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135977
SMART Domains Protein: ENSMUSP00000118822
Gene: ENSMUSG00000035632

DomainStartEndE-ValueType
Pfam:Not3 1 78 1.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143085
Predicted Effect probably benign
Transcript: ENSMUST00000206287
AA Change: A2V

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206331
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show defective outgrowth of the inner cell mass and complete embryonic lethality at implantation. Heterozygotes exhibit decreased cardiac muscle contractility and develop severe cardiomyopathy leading to heart failure in response to pressure overload. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,512,665 probably null Het
Alg5 T C 3: 54,744,719 probably benign Het
App A T 16: 84,965,711 F675I probably damaging Het
Atad1 C A 19: 32,698,568 C152F probably benign Het
Atp2a3 A C 11: 72,982,787 I829L probably damaging Het
B3galt1 C T 2: 68,118,706 S255L probably damaging Het
Bptf A G 11: 107,073,928 V1417A possibly damaging Het
Cast T A 13: 74,736,974 T219S probably damaging Het
Cep95 A T 11: 106,818,217 I705F probably damaging Het
Col1a1 A G 11: 94,949,378 D1084G unknown Het
Col5a3 G A 9: 20,786,389 Q873* probably null Het
Cubn C T 2: 13,381,927 G1509D probably damaging Het
Defb10 T A 8: 21,861,936 C66S possibly damaging Het
Dennd4b T C 3: 90,279,686 probably null Het
Dido1 G A 2: 180,689,526 T43M possibly damaging Het
Hmcn1 C T 1: 150,630,340 V3812I probably benign Het
Islr2 T C 9: 58,199,786 T64A probably benign Het
Kif2b A T 11: 91,576,380 I359N probably damaging Het
Kit A C 5: 75,645,959 N704T probably damaging Het
Ksr1 A G 11: 79,027,517 F604L probably damaging Het
Lrp5 A T 19: 3,649,404 F294I probably benign Het
Lrrn1 A G 6: 107,568,308 T356A probably benign Het
Mrps17 G A 5: 129,716,765 V8I probably benign Het
Nop56 T A 2: 130,275,995 H130Q possibly damaging Het
Plg T A 17: 12,411,493 L639Q probably damaging Het
Ppcdc A G 9: 57,415,140 F159L probably benign Het
Ppp1ca A G 19: 4,194,520 T193A probably benign Het
Prpf39 A G 12: 65,043,263 D117G probably damaging Het
Ranbp2 C A 10: 58,453,323 T51K possibly damaging Het
Sytl2 A G 7: 90,382,636 probably benign Het
Tenm2 T A 11: 36,024,258 I2150F probably damaging Het
Wdr11 T G 7: 129,593,093 probably null Het
Other mutations in Cnot3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02231:Cnot3 APN 7 3658210 missense probably benign 0.00
IGL02476:Cnot3 APN 7 3658068 missense probably benign 0.01
IGL03102:Cnot3 APN 7 3656156 nonsense probably null
IGL03181:Cnot3 APN 7 3653248 missense probably damaging 1.00
R4531:Cnot3 UTSW 7 3658074 missense probably benign
R4564:Cnot3 UTSW 7 3653258 missense probably damaging 1.00
R5071:Cnot3 UTSW 7 3650861 missense probably damaging 1.00
R5649:Cnot3 UTSW 7 3658083 missense probably benign 0.08
R5869:Cnot3 UTSW 7 3644930 unclassified probably benign
R6120:Cnot3 UTSW 7 3645336 unclassified probably null
R6759:Cnot3 UTSW 7 3651919 missense probably damaging 1.00
Posted On2012-12-06