Incidental Mutation 'IGL02167:Cnot4'
ID 282761
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 # IGL02167
Quality Score
Status
Chromosome 6
Chromosomal Location 34999000-35110646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35033159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 286 (D286G)
Ref Sequence ENSEMBL: ENSMUSP00000144409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044163] [ENSMUST00000114989] [ENSMUST00000114993] [ENSMUST00000202143] [ENSMUST00000202417]
AlphaFold Q8BT14
Predicted Effect probably benign
Transcript: ENSMUST00000044163
AA Change: D289G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: D289G

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: D289G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: D289G

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 benign
Transcript: ENSMUST00000114993
AA Change: D286G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: D286G

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: D286G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: D286G

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: D286G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: D286G

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,721 (GRCm39) probably benign Het
Cacna1f T C X: 7,482,258 (GRCm39) Y581H probably damaging Het
Camsap1 C T 2: 25,824,312 (GRCm39) R1416H probably damaging Het
Ccdc117 T C 11: 5,481,333 (GRCm39) E266G possibly damaging Het
Ccdc9 A T 7: 16,018,284 (GRCm39) L8* probably null Het
Cited2 T C 10: 17,600,018 (GRCm39) S109P probably benign Het
Col5a1 T C 2: 27,908,568 (GRCm39) I52T probably benign Het
Cry2 T C 2: 92,264,166 (GRCm39) N68S possibly damaging Het
Cul4a T C 8: 13,172,826 (GRCm39) F153S probably damaging Het
Ddr1 T C 17: 36,000,963 (GRCm39) S261G possibly damaging Het
Depdc5 G A 5: 33,061,145 (GRCm39) R324Q probably damaging Het
Dmgdh A G 13: 93,857,135 (GRCm39) probably benign Het
Epha8 A T 4: 136,658,405 (GRCm39) M990K probably damaging Het
Gpr137c G T 14: 45,517,412 (GRCm39) G383C probably damaging Het
Hydin T A 8: 111,145,055 (GRCm39) I802N possibly damaging Het
Ifne A G 4: 88,798,065 (GRCm39) Y118H possibly damaging Het
Kansl2 T C 15: 98,431,396 (GRCm39) probably benign Het
Lig4 T A 8: 10,021,821 (GRCm39) N653I probably benign Het
Nagk A G 6: 83,778,088 (GRCm39) D246G probably damaging Het
Nav1 A G 1: 135,398,699 (GRCm39) S628P probably damaging Het
Ncoa3 A G 2: 165,912,056 (GRCm39) Y1401C probably damaging Het
Ndufa9 A G 6: 126,821,748 (GRCm39) probably benign Het
Nynrin G T 14: 56,100,792 (GRCm39) R194L probably damaging Het
Or10a4 A T 7: 106,696,868 (GRCm39) R65S probably benign Het
Or10ag53 G A 2: 87,082,542 (GRCm39) C87Y probably benign Het
Or13a17 T A 7: 140,271,664 (GRCm39) V282D probably damaging Het
Orc2 A T 1: 58,522,798 (GRCm39) probably benign Het
Oxgr1 T A 14: 120,259,342 (GRCm39) R288S probably damaging Het
Pgap6 T C 17: 26,338,045 (GRCm39) S450P probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prox1 T C 1: 189,893,477 (GRCm39) N323D probably benign Het
Prrt1 A C 17: 34,850,829 (GRCm39) E215A possibly damaging Het
Rab2b T C 14: 52,506,153 (GRCm39) D103G probably damaging Het
Sardh G T 2: 27,081,987 (GRCm39) N846K probably damaging Het
Slc38a8 T A 8: 120,214,099 (GRCm39) T248S probably benign Het
Slc6a18 T C 13: 73,814,591 (GRCm39) probably null Het
Smcp T C 3: 92,491,506 (GRCm39) T114A unknown Het
Trpv1 A G 11: 73,145,623 (GRCm39) N754D probably damaging Het
Txnrd1 A T 10: 82,717,745 (GRCm39) H243L probably benign Het
Wdfy3 T C 5: 102,109,023 (GRCm39) M125V probably damaging Het
Wnk2 T C 13: 49,224,601 (GRCm39) probably null Het
Wrn T C 8: 33,807,583 (GRCm39) M292V probably damaging Het
Zbtb17 T C 4: 141,189,140 (GRCm39) L20P possibly damaging Het
Zfp608 T C 18: 55,121,296 (GRCm39) H97R probably damaging Het
Zfp68 T A 5: 138,604,629 (GRCm39) M565L probably benign Het
Zfp687 T C 3: 94,917,841 (GRCm39) T644A probably benign Het
Zfp777 C T 6: 48,021,460 (GRCm39) G54D probably 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
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 2015-04-16