Incidental Mutation 'IGL01346:Cnot4'
ID 75057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot4
Ensembl Gene ENSMUSG00000038784
Gene Name CCR4-NOT transcription complex, subunit 4
Synonyms Not4h, Not4hp, Not4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01346
Quality Score
Status
Chromosome 6
Chromosomal Location 34999000-35110646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35047183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 143 (I143N)
Ref Sequence ENSEMBL: ENSMUSP00000110640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044163] [ENSMUST00000114989] [ENSMUST00000114993] [ENSMUST00000202143] [ENSMUST00000202417]
AlphaFold Q8BT14
Predicted Effect probably damaging
Transcript: ENSMUST00000044163
AA Change: I143N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: I143N

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 damaging
Transcript: ENSMUST00000114989
AA Change: I143N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: I143N

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: I143N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: I143N

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: I143N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: I143N

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 damaging
Transcript: ENSMUST00000202417
AA Change: I143N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: I143N

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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null 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
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
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
Posted On 2013-10-07