Incidental Mutation 'R7957:Cnot3'
ID 649885
Institutional Source Beutler Lab
Gene Symbol Cnot3
Ensembl Gene ENSMUSG00000035632
Gene Name CCR4-NOT transcription complex, subunit 3
Synonyms A930039N10Rik
MMRRC Submission 046001-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7957 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 3648267-3664108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 3661221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 577 (P577T)
Ref Sequence ENSEMBL: ENSMUSP00000039098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019878] [ENSMUST00000038913] [ENSMUST00000160200]
AlphaFold Q8K0V4
Predicted Effect probably benign
Transcript: ENSMUST00000019878
SMART Domains Protein: ENSMUSP00000019878
Gene: ENSMUSG00000078813

DomainStartEndE-ValueType
Cir_N 8 44 2.43e-9 SMART
low complexity region 94 109 N/A INTRINSIC
low complexity region 171 192 N/A INTRINSIC
coiled coil region 198 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038913
AA Change: P577T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: P577T

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 probably benign
Transcript: ENSMUST00000160200
SMART Domains Protein: ENSMUSP00000124810
Gene: ENSMUSG00000035632

DomainStartEndE-ValueType
Pfam:NOT2_3_5 1 83 3.1e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,439 (GRCm39) M1T probably null Het
Abhd2 T A 7: 78,975,194 (GRCm39) M128K probably benign Het
Adamts12 A G 15: 11,317,298 (GRCm39) T1333A possibly damaging Het
Alg8 A G 7: 97,040,131 (GRCm39) T438A probably benign Het
Ccn3 G T 15: 54,609,734 (GRCm39) S78I possibly damaging Het
Cebpa A G 7: 34,819,867 (GRCm39) I342V possibly damaging Het
Chd9 T C 8: 91,778,326 (GRCm39) M2779T probably damaging Het
Col17a1 T C 19: 47,649,556 (GRCm39) D755G probably damaging Het
Col5a3 A G 9: 20,685,347 (GRCm39) V1443A unknown Het
Crygs C T 16: 22,624,082 (GRCm39) R175H probably damaging Het
Fam193a A G 5: 34,619,430 (GRCm39) D1031G probably damaging Het
Fam83b T A 9: 76,399,267 (GRCm39) H612L probably benign Het
Gabrr2 A G 4: 33,081,410 (GRCm39) T149A probably damaging Het
Gm3667 T C 14: 18,269,663 (GRCm39) N156D probably benign Het
Hpcal1 T A 12: 17,841,171 (GRCm39) L183Q probably damaging Het
Ilf2 G T 3: 90,394,777 (GRCm39) E342* probably null Het
Ints13 A G 6: 146,452,264 (GRCm39) S652P probably damaging Het
Kansl2 C A 15: 98,422,499 (GRCm39) E356D probably benign Het
Klhl6 T C 16: 19,768,201 (GRCm39) E448G probably null Het
Mmp14 A G 14: 54,673,707 (GRCm39) I124V probably benign Het
Morc2b A T 17: 33,354,747 (GRCm39) D1008E probably benign Het
Muc16 A C 9: 18,554,767 (GRCm39) V3842G unknown Het
Myo9b A T 8: 71,807,405 (GRCm39) I1614F probably benign Het
Nipa1 A T 7: 55,629,547 (GRCm39) C189S probably damaging Het
Ntn4 T C 10: 93,480,335 (GRCm39) probably benign Het
Or12k5 A G 2: 36,894,972 (GRCm39) I218T probably benign Het
Or2t29 A G 11: 58,433,624 (GRCm39) L239P probably damaging Het
Or3a4 A C 11: 73,944,982 (GRCm39) L201R probably damaging Het
Or4x13 A T 2: 90,231,395 (GRCm39) Y130F probably damaging Het
Or8g17 T G 9: 38,930,349 (GRCm39) I163L probably benign Het
Pank1 T A 19: 34,791,096 (GRCm39) H528L probably damaging Het
Pappa2 A T 1: 158,589,131 (GRCm39) L1698* probably null Het
Park7 A G 4: 150,988,341 (GRCm39) S85P probably damaging Het
Pik3r4 A G 9: 105,564,408 (GRCm39) D1334G probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rapgef2 T C 3: 79,122,276 (GRCm39) E30G probably benign Het
Rhbdf1 A G 11: 32,160,523 (GRCm39) F676L probably damaging Het
Rsf1 GGC GGCCACGGCAGC 7: 97,229,113 (GRCm39) probably benign Het
Scd4 G T 19: 44,329,687 (GRCm39) M219I probably benign Het
Slfn5 T A 11: 82,847,613 (GRCm39) I166N probably benign Het
Smim22 A T 16: 4,826,089 (GRCm39) D85V probably damaging Het
Socs2 T C 10: 95,250,812 (GRCm39) E7G probably benign Het
Thumpd2 T C 17: 81,334,157 (GRCm39) E477G probably benign Het
Tlr12 C T 4: 128,510,483 (GRCm39) G589D probably benign Het
Ttn A T 2: 76,595,199 (GRCm39) I20317K probably damaging Het
Ttyh2 A G 11: 114,599,690 (GRCm39) probably null Het
Ugt2a3 T A 5: 87,475,050 (GRCm39) D398V probably damaging Het
Vmn2r88 A T 14: 51,650,589 (GRCm39) M101L Het
Vmn2r93 A T 17: 18,545,954 (GRCm39) R609* probably null Het
Zfp473 C T 7: 44,381,916 (GRCm39) E806K probably damaging Het
Zfp93 T C 7: 23,974,999 (GRCm39) L328P 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
R7369:Cnot3 UTSW 7 3,656,330 (GRCm39) missense possibly damaging 0.77
R7860:Cnot3 UTSW 7 3,658,565 (GRCm39) splice site probably null
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'- CTGGTATTGAGGACCCTGTG -3'
(R):5'- TAGTCTCTCAGGACCCAGGAAC -3'

Sequencing Primer
(F):5'- TATTGAGGACCCTGTGCCAAC -3'
(R):5'- AGCTCCTCCCTCAGACTGG -3'
Posted On 2020-09-15