Incidental Mutation 'R7369:Cnot3'
ID 571997
Institutional Source Beutler Lab
Gene Symbol Cnot3
Ensembl Gene ENSMUSG00000035632
Gene Name CCR4-NOT transcription complex, subunit 3
Synonyms A930039N10Rik
MMRRC Submission 045453-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7369 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 3648267-3664108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3656330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 205 (D205E)
Ref Sequence ENSEMBL: ENSMUSP00000039098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038913] [ENSMUST00000206287]
AlphaFold Q8K0V4
Predicted Effect possibly damaging
Transcript: ENSMUST00000038913
AA Change: D205E

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: D205E

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
SMART Domains Protein: ENSMUSP00000117297
Gene: ENSMUSG00000035632
AA Change: D161E

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 probably benign
Transcript: ENSMUST00000206287
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (77/77)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik C T 7: 29,989,377 (GRCm39) L196F unknown Het
Ahr A T 12: 35,554,659 (GRCm39) W487R possibly damaging Het
Apaf1 A G 10: 90,836,898 (GRCm39) S1060P probably damaging Het
Atf7 G T 15: 102,462,244 (GRCm39) P126H probably damaging Het
B3gnt5 C A 16: 19,588,410 (GRCm39) Q210K probably benign Het
Begain T C 12: 108,999,853 (GRCm39) Y306C possibly damaging Het
Car5a T C 8: 122,650,573 (GRCm39) K157R probably benign Het
Car5b A C X: 162,797,836 (GRCm39) S35R probably benign Het
Cdh6 A G 15: 13,042,724 (GRCm39) V478A probably damaging Het
Cdyl A G 13: 35,999,992 (GRCm39) E91G probably damaging Het
Cep135 A C 5: 76,741,100 (GRCm39) K59Q possibly damaging Het
Clec2m T A 6: 129,308,496 (GRCm39) Q11L possibly damaging Het
Dgkd G A 1: 87,849,344 (GRCm39) G379R probably damaging Het
Dppa1 T A 11: 46,506,944 (GRCm39) probably null Het
Dsp G T 13: 38,381,501 (GRCm39) V2749F possibly damaging Het
E2f4 A G 8: 106,026,966 (GRCm39) K177E probably benign Het
Efcab5 G A 11: 77,008,661 (GRCm39) P819L possibly damaging Het
Ercc5 T A 1: 44,220,020 (GRCm39) S1097R probably benign Het
Erp44 T C 4: 48,218,183 (GRCm39) N162S probably benign Het
Evl A G 12: 108,652,824 (GRCm39) Y423C unknown Het
Fam78a T A 2: 31,959,699 (GRCm39) N137I probably damaging Het
Fcrl2 T C 3: 87,164,008 (GRCm39) N374D possibly damaging Het
Fcrla T G 1: 170,749,886 (GRCm39) D57A probably benign Het
Gm7145 A T 1: 117,913,838 (GRCm39) H240L probably benign Het
Kdm5a T A 6: 120,408,965 (GRCm39) N1549K possibly damaging Het
Kirrel1 C T 3: 87,048,391 (GRCm39) R9H probably benign Het
Klf7 T C 1: 64,160,300 (GRCm39) probably null Het
Lce1d G A 3: 92,593,390 (GRCm39) Q8* probably null Het
Lcn4 T C 2: 26,557,906 (GRCm39) H180R probably benign Het
Lmntd1 T A 6: 145,359,301 (GRCm39) Y283F probably damaging Het
Lrp1b C T 2: 41,172,051 (GRCm39) R1646K Het
Map3k21 C A 8: 126,637,855 (GRCm39) A147E possibly damaging Het
Mapk8ip2 T C 15: 89,338,454 (GRCm39) S11P probably benign Het
Mdn1 T A 4: 32,773,375 (GRCm39) F5518L probably damaging Het
Msh3 T A 13: 92,435,770 (GRCm39) T510S probably benign Het
Myh1 A T 11: 67,111,524 (GRCm39) Q1654H probably damaging Het
Ncbp3 T C 11: 72,968,747 (GRCm39) V506A probably benign Het
Nfkbiz A G 16: 55,642,209 (GRCm39) S70P probably damaging Het
Nmi T C 2: 51,840,096 (GRCm39) D215G possibly damaging Het
Nphp3 T C 9: 103,895,449 (GRCm39) S496P probably damaging Het
Nrp1 T A 8: 129,158,396 (GRCm39) C228S probably damaging Het
Or6c5c A T 10: 129,299,390 (GRCm39) M282L probably benign Het
Pcdh9 C A 14: 94,123,803 (GRCm39) R789L possibly damaging Het
Pigr A T 1: 130,769,503 (GRCm39) T105S probably benign Het
Polr2a A C 11: 69,636,803 (GRCm39) S383A probably benign Het
Prr35 G A 17: 26,166,934 (GRCm39) S201L probably damaging Het
Psd3 T A 8: 68,356,818 (GRCm39) H634L possibly damaging Het
Ptgr2 T G 12: 84,339,080 (GRCm39) probably benign Het
Ptk6 A G 2: 180,840,254 (GRCm39) Y251H possibly damaging Het
Rnf213 A G 11: 119,321,294 (GRCm39) T1251A Het
Rtkn2 A G 10: 67,877,259 (GRCm39) K443E probably damaging Het
Rundc3a T A 11: 102,290,721 (GRCm39) L268Q probably damaging Het
Serpinb5 A G 1: 106,802,879 (GRCm39) E138G probably benign Het
Shroom1 A T 11: 53,356,075 (GRCm39) D375V probably benign Het
Siglecf A G 7: 43,001,241 (GRCm39) T70A probably damaging Het
Slc20a2 A T 8: 23,051,416 (GRCm39) E483V probably benign Het
Slc49a3 A G 5: 108,593,394 (GRCm39) V148A probably benign Het
Sort1 G A 3: 108,258,996 (GRCm39) G676D probably damaging Het
Spef2 T C 15: 9,584,293 (GRCm39) S1581G probably benign Het
Stx6 C T 1: 155,073,130 (GRCm39) R214* probably null Het
Stxbp5l A G 16: 36,954,703 (GRCm39) I950T probably benign Het
Tdrd7 T A 4: 46,013,239 (GRCm39) C660S possibly damaging Het
Tgm4 T A 9: 122,885,749 (GRCm39) probably null Het
Tmem67 T C 4: 12,053,535 (GRCm39) Y671C probably damaging Het
Ttc6 A T 12: 57,719,717 (GRCm39) probably null Het
Tut7 A G 13: 59,929,867 (GRCm39) I1458T possibly damaging Het
Uba2 A G 7: 33,850,239 (GRCm39) S405P possibly damaging Het
Usp34 T C 11: 23,382,361 (GRCm39) I2043T Het
Vmn1r12 T A 6: 57,136,683 (GRCm39) I260N possibly damaging Het
Vmn1r172 C T 7: 23,360,030 (GRCm39) T305I unknown Het
Vmn2r24 T C 6: 123,792,638 (GRCm39) V655A probably damaging Het
Wdr33 T C 18: 32,019,719 (GRCm39) S464P probably benign Het
Zfp260 T A 7: 29,804,750 (GRCm39) C217S probably damaging Het
Zfp760 A G 17: 21,942,214 (GRCm39) E463G probably benign Het
Zhx1 A G 15: 57,916,696 (GRCm39) Y517H probably damaging Het
Other mutations in Cnot3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Cnot3 APN 7 3,653,854 (GRCm39) missense probably damaging 1.00
IGL02231:Cnot3 APN 7 3,661,209 (GRCm39) missense probably benign 0.00
IGL02476:Cnot3 APN 7 3,661,067 (GRCm39) missense probably benign 0.01
IGL03102:Cnot3 APN 7 3,659,155 (GRCm39) nonsense probably null
IGL03181:Cnot3 APN 7 3,656,247 (GRCm39) missense probably damaging 1.00
secondary UTSW 7 3,654,918 (GRCm39) missense probably damaging 1.00
R4531:Cnot3 UTSW 7 3,661,073 (GRCm39) missense probably benign
R4564:Cnot3 UTSW 7 3,656,257 (GRCm39) missense probably damaging 1.00
R5071:Cnot3 UTSW 7 3,653,860 (GRCm39) missense probably damaging 1.00
R5649:Cnot3 UTSW 7 3,661,082 (GRCm39) missense probably benign 0.08
R5869:Cnot3 UTSW 7 3,647,929 (GRCm39) unclassified probably benign
R6120:Cnot3 UTSW 7 3,648,335 (GRCm39) splice site probably null
R6759:Cnot3 UTSW 7 3,654,918 (GRCm39) missense probably damaging 1.00
R7305:Cnot3 UTSW 7 3,648,479 (GRCm39) start gained probably benign
R7860:Cnot3 UTSW 7 3,658,565 (GRCm39) splice site probably null
R7957:Cnot3 UTSW 7 3,661,221 (GRCm39) missense probably benign
R8172:Cnot3 UTSW 7 3,661,724 (GRCm39) missense possibly damaging 0.64
R8415:Cnot3 UTSW 7 3,661,687 (GRCm39) missense probably benign 0.01
R8693:Cnot3 UTSW 7 3,656,522 (GRCm39) missense probably benign 0.16
R8983:Cnot3 UTSW 7 3,654,328 (GRCm39) missense probably damaging 1.00
R9100:Cnot3 UTSW 7 3,661,192 (GRCm39) missense probably benign 0.01
R9388:Cnot3 UTSW 7 3,661,367 (GRCm39) missense possibly damaging 0.93
R9440:Cnot3 UTSW 7 3,656,560 (GRCm39) missense probably damaging 1.00
RF010:Cnot3 UTSW 7 3,659,068 (GRCm39) missense probably benign 0.01
Z1177:Cnot3 UTSW 7 3,654,494 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTGAGGACAGGTTCTGTG -3'
(R):5'- AGATCTCGTCCTCCATGTGG -3'

Sequencing Primer
(F):5'- ACAGGTTCTGTGGGGGCAG -3'
(R):5'- CGTCCTCCATGTGGCTGTG -3'
Posted On 2019-09-13