Incidental Mutation 'R1883:Cnot4'
ID 209247
Institutional Source Beutler Lab
Gene Symbol Cnot4
Ensembl Gene ENSMUSG00000038784
Gene Name CCR4-NOT transcription complex, subunit 4
Synonyms Not4h, Not4hp, Not4
MMRRC Submission 039904-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1883 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 34999000-35110646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35055092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 66 (V66I)
Ref Sequence ENSEMBL: ENSMUSP00000144352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044163] [ENSMUST00000114989] [ENSMUST00000114993] [ENSMUST00000202143] [ENSMUST00000202417]
AlphaFold Q8BT14
Predicted Effect possibly damaging
Transcript: ENSMUST00000044163
AA Change: V66I

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: V66I

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114989
AA Change: V66I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: V66I

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
low complexity region 537 549 N/A INTRINSIC
low complexity region 576 590 N/A INTRINSIC
low complexity region 602 617 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114993
AA Change: V66I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: V66I

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
low complexity region 572 592 N/A INTRINSIC
low complexity region 644 658 N/A INTRINSIC
low complexity region 670 685 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202143
AA Change: V66I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: V66I

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
low complexity region 534 546 N/A INTRINSIC
low complexity region 573 587 N/A INTRINSIC
low complexity region 599 614 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000202417
AA Change: V66I

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: V66I

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202666
Meta Mutation Damage Score 0.1053 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 T C 7: 140,682,244 (GRCm39) E677G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bhmt1b T C 18: 87,774,669 (GRCm39) L64P probably damaging Het
Brs3 T C X: 56,092,449 (GRCm39) I311T probably benign Het
Capn9 A G 8: 125,338,297 (GRCm39) K552R probably benign Het
Catsperg1 C T 7: 28,881,661 (GRCm39) probably null Het
Cdc16 A G 8: 13,825,738 (GRCm39) N449D probably damaging Het
Cdyl2 A T 8: 117,321,902 (GRCm39) N208K probably damaging Het
Cntn4 A G 6: 106,656,353 (GRCm39) T885A probably benign Het
Col20a1 C T 2: 180,634,703 (GRCm39) T131I possibly damaging Het
Crybg2 C A 4: 133,801,594 (GRCm39) S918* probably null Het
Dact2 A T 17: 14,418,085 (GRCm39) S207T possibly damaging Het
Dbnl G A 11: 5,749,247 (GRCm39) G356E probably benign Het
Ddx18 C A 1: 121,495,645 (GRCm39) probably benign Het
Dis3 A T 14: 99,328,905 (GRCm39) H282Q probably benign Het
Dnah3 T C 7: 119,677,142 (GRCm39) D453G probably benign Het
Dst T C 1: 34,228,389 (GRCm39) V1994A possibly damaging Het
Dusp8 C T 7: 141,638,085 (GRCm39) probably null Het
Eipr1 A T 12: 28,816,850 (GRCm39) H69L possibly damaging Het
Eml1 A G 12: 108,429,911 (GRCm39) R65G probably damaging Het
Epha7 C T 4: 28,950,362 (GRCm39) H722Y possibly damaging Het
Epyc A T 10: 97,511,695 (GRCm39) K229N possibly damaging Het
Extl1 A G 4: 134,091,917 (GRCm39) I312T probably benign Het
F13a1 G C 13: 37,172,981 (GRCm39) A133G probably benign Het
Fam185a G T 5: 21,630,242 (GRCm39) C26F possibly damaging Het
Fam186b T C 15: 99,176,679 (GRCm39) N737S probably damaging Het
Fam78b A G 1: 166,829,171 (GRCm39) I13V probably benign Het
Fat1 A T 8: 45,504,184 (GRCm39) Q4559L probably benign Het
Fnip1 T C 11: 54,406,373 (GRCm39) S1157P probably damaging Het
Foxj3 A C 4: 119,467,226 (GRCm39) M190L probably benign Het
Heatr3 T C 8: 88,871,221 (GRCm39) Y192H possibly damaging Het
Hexd T A 11: 121,098,524 (GRCm39) S3T probably benign Het
Klf3 C T 5: 64,980,224 (GRCm39) P5S probably damaging Het
Klf9 C T 19: 23,142,101 (GRCm39) S187L probably damaging Het
Krt9 T C 11: 100,079,523 (GRCm39) H623R unknown Het
Krtap2-4 G C 11: 99,505,505 (GRCm39) probably benign Het
Lmtk3 T C 7: 45,436,273 (GRCm39) Y84H probably damaging Het
Mroh3 G T 1: 136,134,731 (GRCm39) A166D probably damaging Het
Musk C A 4: 58,373,189 (GRCm39) P697T probably benign Het
Nek9 A G 12: 85,379,330 (GRCm39) L192P probably damaging Het
Nipbl A C 15: 8,356,616 (GRCm39) F1590C probably damaging Het
Nrk G T X: 137,907,922 (GRCm39) V1455F probably damaging Het
Nsun3 T C 16: 62,555,656 (GRCm39) D290G probably damaging Het
Obscn T C 11: 58,969,029 (GRCm39) T222A probably damaging Het
Or2a12 T C 6: 42,904,764 (GRCm39) S200P probably damaging Het
Or51f1d T C 7: 102,701,189 (GRCm39) I228T probably benign Het
Or6b9 T C 7: 106,555,981 (GRCm39) H54R probably benign Het
Osbpl11 T G 16: 33,034,723 (GRCm39) H237Q probably benign Het
Pde10a A T 17: 9,197,776 (GRCm39) T671S possibly damaging Het
Pkd2 A T 5: 104,631,094 (GRCm39) N506I probably damaging Het
Ppp3cb A G 14: 20,573,913 (GRCm39) V274A possibly damaging Het
Prex1 T C 2: 166,425,192 (GRCm39) D938G probably benign Het
Ptch1 G A 13: 63,659,841 (GRCm39) Q1134* probably null Het
Rasgrf2 A G 13: 92,117,149 (GRCm39) V820A probably benign Het
Rimbp2 C T 5: 128,880,998 (GRCm39) V137M possibly damaging Het
Rpa1 A G 11: 75,209,309 (GRCm39) V137A probably benign Het
Rps6ka1 A C 4: 133,591,354 (GRCm39) I299S probably damaging Het
Scn3b A C 9: 40,190,669 (GRCm39) probably null Het
Sdha A T 13: 74,481,255 (GRCm39) I317N probably damaging Het
Serpina1d T A 12: 103,732,037 (GRCm39) D274V possibly damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Snx14 T A 9: 88,284,314 (GRCm39) E451D probably benign Het
Spmip4 T C 6: 50,551,433 (GRCm39) T339A probably benign Het
Swt1 T A 1: 151,299,284 (GRCm39) K8* probably null Het
Tas1r3 G T 4: 155,946,610 (GRCm39) P332T probably damaging Het
Tas2r126 A T 6: 42,411,961 (GRCm39) T165S probably benign Het
Tecpr1 A G 5: 144,143,347 (GRCm39) V676A probably benign Het
Tg A G 15: 66,543,158 (GRCm39) E24G probably damaging Het
Tlr7 C T X: 166,089,468 (GRCm39) G673S probably benign Het
Tnxb T A 17: 34,908,539 (GRCm39) D1520E probably benign Het
Trabd A G 15: 88,966,184 (GRCm39) E47G probably damaging Het
Trim29 T A 9: 43,222,702 (GRCm39) I177N probably damaging Het
Ubxn2a A T 12: 4,944,563 (GRCm39) L53* probably null Het
Ulk2 A G 11: 61,721,438 (GRCm39) L208P probably damaging Het
Unc80 G A 1: 66,564,929 (GRCm39) C872Y possibly damaging Het
Vac14 A G 8: 111,438,319 (GRCm39) H644R probably damaging Het
Vmn1r20 C A 6: 57,409,306 (GRCm39) H211N probably benign Het
Vmn1r31 C T 6: 58,449,029 (GRCm39) V279I probably damaging Het
Vmn2r18 G T 5: 151,499,190 (GRCm39) Q425K probably benign Het
Vmn2r60 T C 7: 41,786,094 (GRCm39) V299A probably damaging Het
Vps54 A T 11: 21,262,967 (GRCm39) T685S possibly damaging Het
Vwa5b1 A G 4: 138,302,700 (GRCm39) W932R probably damaging Het
Wdr53 A T 16: 32,075,316 (GRCm39) I174F possibly damaging Het
Zfp157 A G 5: 138,443,102 (GRCm39) D31G probably damaging Het
Zfp60 T C 7: 27,449,435 (GRCm39) L701P probably benign Het
Zfp609 A T 9: 65,702,040 (GRCm39) M204K probably benign Het
Zfp831 A G 2: 174,545,870 (GRCm39) H1325R possibly damaging Het
Zfp995 A T 17: 22,099,622 (GRCm39) I204N probably benign Het
Zp2 C T 7: 119,732,624 (GRCm39) D641N probably benign Het
Other mutations in Cnot4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Cnot4 APN 6 35,055,049 (GRCm39) missense probably damaging 1.00
IGL01341:Cnot4 APN 6 35,047,189 (GRCm39) missense probably damaging 1.00
IGL01346:Cnot4 APN 6 35,047,183 (GRCm39) missense probably damaging 1.00
IGL01775:Cnot4 APN 6 35,046,411 (GRCm39) splice site probably benign
IGL02035:Cnot4 APN 6 35,047,186 (GRCm39) missense probably damaging 1.00
IGL02167:Cnot4 APN 6 35,033,159 (GRCm39) missense possibly damaging 0.49
IGL02227:Cnot4 APN 6 35,028,198 (GRCm39) missense probably benign 0.44
IGL03136:Cnot4 APN 6 35,028,176 (GRCm39) missense probably damaging 0.99
IGL03230:Cnot4 APN 6 35,028,344 (GRCm39) missense probably damaging 1.00
IGL03297:Cnot4 APN 6 35,001,158 (GRCm39) missense probably benign
R0049:Cnot4 UTSW 6 35,028,212 (GRCm39) missense probably benign
R0049:Cnot4 UTSW 6 35,028,212 (GRCm39) missense probably benign
R0597:Cnot4 UTSW 6 35,028,438 (GRCm39) missense possibly damaging 0.66
R1518:Cnot4 UTSW 6 35,028,389 (GRCm39) missense probably damaging 0.98
R1884:Cnot4 UTSW 6 35,055,092 (GRCm39) missense probably damaging 0.99
R1992:Cnot4 UTSW 6 35,000,344 (GRCm39) missense probably benign
R3500:Cnot4 UTSW 6 35,057,076 (GRCm39) start gained probably benign
R4738:Cnot4 UTSW 6 35,028,311 (GRCm39) missense probably benign 0.28
R5029:Cnot4 UTSW 6 35,054,962 (GRCm39) missense probably damaging 1.00
R5247:Cnot4 UTSW 6 35,028,351 (GRCm39) missense probably damaging 0.96
R5534:Cnot4 UTSW 6 35,054,939 (GRCm39) missense possibly damaging 0.55
R5602:Cnot4 UTSW 6 35,028,464 (GRCm39) nonsense probably null
R6236:Cnot4 UTSW 6 35,045,608 (GRCm39) missense probably benign 0.33
R6701:Cnot4 UTSW 6 35,045,539 (GRCm39) missense probably damaging 1.00
R7252:Cnot4 UTSW 6 35,046,362 (GRCm39) missense probably damaging 1.00
R7360:Cnot4 UTSW 6 35,041,941 (GRCm39) missense probably damaging 1.00
R7479:Cnot4 UTSW 6 35,001,083 (GRCm39) missense probably benign 0.00
R7574:Cnot4 UTSW 6 35,029,939 (GRCm39) missense possibly damaging 0.82
R8063:Cnot4 UTSW 6 35,045,578 (GRCm39) missense probably damaging 0.98
R8137:Cnot4 UTSW 6 35,023,222 (GRCm39) missense unknown
R8312:Cnot4 UTSW 6 35,000,076 (GRCm39) missense probably damaging 0.99
R8407:Cnot4 UTSW 6 35,033,154 (GRCm39) missense probably benign 0.24
R9380:Cnot4 UTSW 6 35,029,865 (GRCm39) missense possibly damaging 0.77
R9508:Cnot4 UTSW 6 35,045,554 (GRCm39) missense
R9773:Cnot4 UTSW 6 35,056,920 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACTTCTGGGTCTGCTAGGC -3'
(R):5'- ACCAAGACTGAGTAGTTGGTTTTG -3'

Sequencing Primer
(F):5'- TAGGCGCTGTGACAGACCTAC -3'
(R):5'- GCTGAGACATGTGTGTGAAATG -3'
Posted On 2014-06-30