Incidental Mutation 'R0597:Cnot4'
ID 55114
Institutional Source Beutler Lab
Gene Symbol Cnot4
Ensembl Gene ENSMUSG00000038784
Gene Name CCR4-NOT transcription complex, subunit 4
Synonyms Not4h, Not4hp, Not4
MMRRC Submission 038786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0597 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 34999000-35110646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35028438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 393 (S393P)
Ref Sequence ENSEMBL: ENSMUSP00000110645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044163] [ENSMUST00000114989] [ENSMUST00000114993] [ENSMUST00000202143] [ENSMUST00000202417]
AlphaFold Q8BT14
Predicted Effect probably benign
Transcript: ENSMUST00000044163
AA Change: S396P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: S396P

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 probably benign
Transcript: ENSMUST00000114989
AA Change: S396P

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: S396P

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 possibly damaging
Transcript: ENSMUST00000114993
AA Change: S393P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: S393P

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 noncoding transcript
Transcript: ENSMUST00000200743
Predicted Effect probably benign
Transcript: ENSMUST00000202143
AA Change: S393P

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: S393P

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 probably benign
Transcript: ENSMUST00000202417
AA Change: S393P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: S393P

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 0.1176 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,352,631 (GRCm39) probably null Het
Anxa11 T C 14: 25,874,652 (GRCm39) I221T probably damaging Het
Arhgap33 C G 7: 30,225,871 (GRCm39) R565P probably damaging Het
Bmpr2 T C 1: 59,880,584 (GRCm39) probably benign Het
Btn2a2 T A 13: 23,670,580 (GRCm39) H51L probably benign Het
Casz1 T C 4: 149,028,851 (GRCm39) S1099P probably benign Het
Cntnap5a T C 1: 116,112,191 (GRCm39) probably benign Het
Cobl T C 11: 12,204,699 (GRCm39) T586A probably benign Het
Crocc T C 4: 140,747,224 (GRCm39) K1528R probably benign Het
Crocc A G 4: 140,744,382 (GRCm39) L1838P probably benign Het
Dact2 A G 17: 14,417,303 (GRCm39) V299A probably benign Het
Dapk1 C A 13: 60,909,198 (GRCm39) N1270K probably benign Het
Ddx41 T C 13: 55,680,819 (GRCm39) Y375C probably damaging Het
Dock5 T A 14: 68,022,383 (GRCm39) probably null Het
Dyrk4 T G 6: 126,863,612 (GRCm39) probably null Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam210b A G 2: 172,187,773 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,819,712 (GRCm39) I229T probably benign Het
Fbxo39 A G 11: 72,207,747 (GRCm39) D33G probably damaging Het
Fbxw11 A G 11: 32,670,496 (GRCm39) E120G probably damaging Het
Fbxw2 A T 2: 34,701,032 (GRCm39) L261Q probably damaging Het
Gm5800 A C 14: 51,953,461 (GRCm39) N51K probably benign Het
Gm6899 A G 11: 26,543,768 (GRCm39) probably benign Het
Gpx8 T C 13: 113,182,035 (GRCm39) T133A possibly damaging Het
Grin3a C T 4: 49,665,351 (GRCm39) V1095M probably damaging Het
Grip2 T C 6: 91,773,178 (GRCm39) probably benign Het
Hacd4 A G 4: 88,355,757 (GRCm39) F43L probably damaging Het
Hif1a T G 12: 73,989,049 (GRCm39) S645R probably benign Het
Hipk3 A G 2: 104,263,982 (GRCm39) S839P possibly damaging Het
Idi2l C A 13: 8,990,802 (GRCm39) probably benign Het
Il16 A T 7: 83,327,183 (GRCm39) probably benign Het
Il3ra T A 14: 14,351,166 (GRCm38) probably null Het
Il5ra A G 6: 106,721,296 (GRCm39) M1T probably null Het
Klra2 G A 6: 131,197,148 (GRCm39) R251C probably benign Het
Lamc2 C T 1: 153,009,367 (GRCm39) V813M probably benign Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lrp5 T C 19: 3,650,777 (GRCm39) D1219G possibly damaging Het
Map3k6 C T 4: 132,972,863 (GRCm39) P341S possibly damaging Het
Mcts2 A G 2: 152,529,609 (GRCm39) E140G probably benign Het
Med1 T C 11: 98,060,264 (GRCm39) M222V probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Muc19 A T 15: 91,784,696 (GRCm39) noncoding transcript Het
Nr1h2 A G 7: 44,201,684 (GRCm39) probably benign Het
Or13j1 A T 4: 43,706,592 (GRCm39) probably null Het
Or2w6 C A 13: 21,843,316 (GRCm39) R59L probably damaging Het
Or56a42-ps1 A G 7: 104,777,425 (GRCm39) V73A possibly damaging Het
Or5ac23 A T 16: 59,149,123 (GRCm39) F250I probably damaging Het
P4hb G A 11: 120,459,070 (GRCm39) T141I possibly damaging Het
Polr3a A G 14: 24,534,202 (GRCm39) V101A probably benign Het
Pou4f2 A G 8: 79,161,869 (GRCm39) S245P probably benign Het
Pramel26 G T 4: 143,539,222 (GRCm39) N90K probably damaging Het
Rnpep A G 1: 135,200,157 (GRCm39) V266A probably damaging Het
Scly G A 1: 91,237,555 (GRCm39) G206R probably damaging Het
Sec14l3 A T 11: 4,024,814 (GRCm39) K254N probably damaging Het
Sgpp1 A T 12: 75,781,874 (GRCm39) I155N probably damaging Het
Slc22a14 A G 9: 119,001,190 (GRCm39) L468P probably damaging Het
Slc22a27 A G 19: 7,843,249 (GRCm39) F377L probably benign Het
Slc44a3 T C 3: 121,253,719 (GRCm39) I625V probably benign Het
Slc47a2 A T 11: 61,200,802 (GRCm39) I373N probably damaging Het
Slfn10-ps A T 11: 82,926,479 (GRCm39) noncoding transcript Het
Smarcd1 T A 15: 99,608,975 (GRCm39) I383N probably damaging Het
Sort1 A G 3: 108,246,226 (GRCm39) D401G probably damaging Het
Sprr2a3 G T 3: 92,195,897 (GRCm39) M1I probably null Het
Sycp2 A C 2: 177,998,373 (GRCm39) V1049G possibly damaging Het
Tecrl T A 5: 83,502,775 (GRCm39) K10* probably null Het
Tnpo3 A T 6: 29,578,564 (GRCm39) C303* probably null Het
Vmn2r23 A G 6: 123,706,680 (GRCm39) I503M probably benign Het
Zbtb8os T A 4: 129,240,670 (GRCm39) I164N probably damaging Het
Zfp292 T C 4: 34,807,399 (GRCm39) N1882D probably benign Het
Zfp91 T C 19: 12,747,459 (GRCm39) I555V possibly damaging 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
R1518:Cnot4 UTSW 6 35,028,389 (GRCm39) missense probably damaging 0.98
R1883:Cnot4 UTSW 6 35,055,092 (GRCm39) missense probably damaging 0.99
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'- TTGAGGGAACCTCTGTGGCAAGAC -3'
(R):5'- CATTTGGGATTAGAAAGCAGCGAGC -3'

Sequencing Primer
(F):5'- CCTCTGTGGCAAGACTGAAAAG -3'
(R):5'- ATGAGGTCCTCTGGAACTAATG -3'
Posted On 2013-07-11