Incidental Mutation 'R7305:Cnot3'
ID 567233
Institutional Source Beutler Lab
Gene Symbol Cnot3
Ensembl Gene ENSMUSG00000035632
Gene Name CCR4-NOT transcription complex, subunit 3
Synonyms A930039N10Rik
MMRRC Submission 045407-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7305 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 3648267-3664108 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to T at 3648479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000038913] [ENSMUST00000108636] [ENSMUST00000179769] [ENSMUST00000206287]
AlphaFold Q8K0V4
Predicted Effect probably benign
Transcript: ENSMUST00000008517
SMART Domains Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
low complexity region 287 298 N/A INTRINSIC
Pfam:Prp31_C 337 465 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038913
SMART Domains Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632

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: ENSMUST00000108636
SMART Domains Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
Pfam:Nop 186 328 4.9e-46 PFAM
Pfam:Prp31_C 330 459 4.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179769
SMART Domains Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
Pfam:Nop 186 328 4.9e-46 PFAM
Pfam:Prp31_C 330 459 4.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206287
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A T 2: 181,135,209 (GRCm39) D37V possibly damaging Het
Ankhd1 A G 18: 36,765,258 (GRCm39) D87G Het
Ankrd31 A G 13: 97,015,479 (GRCm39) S1583G probably damaging Het
Ankub1 T C 3: 57,599,938 (GRCm39) probably benign Het
Apba3 A G 10: 81,107,067 (GRCm39) D264G probably damaging Het
Armh3 A T 19: 45,880,560 (GRCm39) M508K probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cxxc1 A G 18: 74,352,467 (GRCm39) Y349C probably benign Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Cyp3a57 A G 5: 145,307,795 (GRCm39) I184V probably benign Het
D130052B06Rik GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG GTCTACACTGTCCTG 11: 33,573,355 (GRCm39) probably null Het
Dab1 T A 4: 104,570,987 (GRCm39) D210E Het
Elavl1 G A 8: 4,375,199 (GRCm39) probably benign Het
Emilin1 C T 5: 31,074,433 (GRCm39) Q225* probably null Het
Eml6 G T 11: 29,727,258 (GRCm39) A1288E probably benign Het
Eno1 T C 4: 150,329,796 (GRCm39) probably null Het
Eprs1 C T 1: 185,111,898 (GRCm39) R303C probably damaging Het
Eps15l1 G A 8: 73,126,878 (GRCm39) A651V probably benign Het
Etl4 A T 2: 20,714,368 (GRCm39) I156F probably damaging Het
Faim2 A T 15: 99,411,814 (GRCm39) I171N probably damaging Het
Fam135a T A 1: 24,069,939 (GRCm39) N381I probably damaging Het
Fhip1a G T 3: 85,637,831 (GRCm39) P156Q probably damaging Het
Gabrg3 T A 7: 56,384,833 (GRCm39) M243L probably benign Het
Garin2 A G 12: 78,761,809 (GRCm39) K158E possibly damaging Het
Gm5134 A G 10: 75,836,233 (GRCm39) I405V probably damaging Het
Gm9376 A T 14: 118,504,768 (GRCm39) K67* probably null Het
Grm8 A T 6: 27,761,354 (GRCm39) I290K possibly damaging Het
Hao1 T A 2: 134,390,121 (GRCm39) M73L probably benign Het
Herc1 A G 9: 66,369,150 (GRCm39) D452G Het
Idh3b C A 2: 130,123,413 (GRCm39) K192N possibly damaging Het
Igkv6-23 A G 6: 70,237,553 (GRCm39) S63P probably benign Het
Itgb2 A C 10: 77,384,398 (GRCm39) D173A probably damaging Het
Jmjd8 A T 17: 26,049,301 (GRCm39) T255S probably benign Het
Lamc3 A C 2: 31,820,714 (GRCm39) E1243A probably benign Het
Map1a A G 2: 121,129,939 (GRCm39) T252A probably damaging Het
Mrgpra1 C A 7: 46,985,203 (GRCm39) A159S probably benign Het
Ndst3 T C 3: 123,395,131 (GRCm39) I500V possibly damaging Het
Nhsl1 A G 10: 18,407,434 (GRCm39) T1523A possibly damaging Het
Nr2f1 A G 13: 78,343,298 (GRCm39) I322T probably damaging Het
Nup210 T C 6: 91,064,948 (GRCm39) E184G probably damaging Het
Obsl1 C T 1: 75,470,590 (GRCm39) W1022* probably null Het
Or2l13 T A 16: 19,306,449 (GRCm39) I287N probably damaging Het
Or4a77 T A 2: 89,486,846 (GRCm39) H313L probably benign Het
Or52p2 G T 7: 102,237,162 (GRCm39) Q263K possibly damaging Het
Or5p51 A T 7: 107,444,572 (GRCm39) Y123N probably damaging Het
Or6c1 A T 10: 129,518,149 (GRCm39) I153N probably damaging Het
Or6c65 T A 10: 129,603,720 (GRCm39) Y118* probably null Het
Otulinl A G 15: 27,658,319 (GRCm39) C184R probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Parp8 A G 13: 117,031,461 (GRCm39) L417P possibly damaging Het
Pdia6 A G 12: 17,324,509 (GRCm39) Q120R probably benign Het
Ppp3cc T C 14: 70,478,252 (GRCm39) N290S probably benign Het
Prdm5 C A 6: 65,808,244 (GRCm39) S63R possibly damaging Het
Prr14l T C 5: 32,988,445 (GRCm39) D350G probably benign Het
Pwwp2a T C 11: 43,607,878 (GRCm39) L497S probably damaging Het
R3hdm2 A G 10: 127,312,547 (GRCm39) N430D probably benign Het
Rad51ap2 A G 12: 11,507,344 (GRCm39) N422S possibly damaging Het
Rbbp8 G A 18: 11,805,638 (GRCm39) probably null Het
Rsf1 GGCGGCGGC GGCGGCGGCAGCGGCGGC 7: 97,229,125 (GRCm39) probably benign Het
Slc22a6 G A 19: 8,599,522 (GRCm39) probably null Het
Slc28a3 T A 13: 58,714,045 (GRCm39) E440V possibly damaging Het
Slc30a5 A T 13: 100,947,932 (GRCm39) I482K probably damaging Het
Slco1a1 A T 6: 141,870,223 (GRCm39) F305Y probably damaging Het
Slco1a8 G A 6: 141,938,220 (GRCm39) A253V probably damaging Het
Slco4c1 T C 1: 96,756,690 (GRCm39) N544S probably damaging Het
Smpd4 T A 16: 17,459,647 (GRCm39) I656N probably damaging Het
Spata31h1 A T 10: 82,120,953 (GRCm39) I4019K probably benign Het
Taok1 A T 11: 77,432,500 (GRCm39) L771* probably null Het
Tmem231 T C 8: 112,641,927 (GRCm39) D209G possibly damaging Het
Tmem25 A G 9: 44,706,705 (GRCm39) probably null Het
Tmem79 T C 3: 88,240,718 (GRCm39) T77A probably benign Het
Topbp1 A T 9: 103,205,836 (GRCm39) T825S probably damaging Het
Trpm6 A T 19: 18,853,455 (GRCm39) Q1825L probably benign Het
Uba1y T A Y: 821,348 (GRCm39) D110E probably damaging Het
Utrn A T 10: 12,261,280 (GRCm39) N3422K probably benign Het
Vmn1r219 A T 13: 23,347,314 (GRCm39) M168L probably benign Het
Vmn2r62 T C 7: 42,414,235 (GRCm39) H736R possibly damaging Het
Wdr1 T C 5: 38,697,435 (GRCm39) H291R possibly damaging Het
Zan T C 5: 137,413,401 (GRCm39) T3177A unknown Het
Zbtb21 T C 16: 97,752,495 (GRCm39) H596R possibly 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
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
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'- GACCTATATTCGGGGCTCGG -3'
(R):5'- GAGCTTTCGGGTGCACTGAG -3'

Sequencing Primer
(F):5'- CCGCCATCTTGGACCGG -3'
(R):5'- AGTCGAACCTGACGCTC -3'
Posted On 2019-06-26