Incidental Mutation 'IGL02167:Cnot4'
ID282761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot4
Ensembl Gene ENSMUSG00000038784
Gene NameCCR4-NOT transcription complex, subunit 4
SynonymsNot4h, Not4, Not4hp
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02167
Quality Score
Status
Chromosome6
Chromosomal Location35022065-35133724 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35056224 bp
ZygosityHeterozygous
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]
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: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 E266G possibly damaging Het
Ccdc9 A T 7: 16,284,359 L8* probably null Het
Cited2 T C 10: 17,724,270 S109P probably benign Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Cul4a T C 8: 13,122,826 F153S probably damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr17 A T 7: 107,097,661 R65S probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Prrt1 A C 17: 34,631,855 E215A possibly damaging Het
Rab2b T C 14: 52,268,696 D103G probably damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Tmem8 T C 17: 26,119,071 S450P probably damaging Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D probably damaging Het
Other mutations in Cnot4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Cnot4 APN 6 35078114 missense probably damaging 1.00
IGL01341:Cnot4 APN 6 35070254 missense probably damaging 1.00
IGL01346:Cnot4 APN 6 35070248 missense probably damaging 1.00
IGL01775:Cnot4 APN 6 35069476 splice site probably benign
IGL02035:Cnot4 APN 6 35070251 missense probably damaging 1.00
IGL02227:Cnot4 APN 6 35051263 missense probably benign 0.44
IGL03136:Cnot4 APN 6 35051241 missense probably damaging 0.99
IGL03230:Cnot4 APN 6 35051409 missense probably damaging 1.00
IGL03297:Cnot4 APN 6 35024223 missense probably benign
R0049:Cnot4 UTSW 6 35051277 missense probably benign
R0049:Cnot4 UTSW 6 35051277 missense probably benign
R0597:Cnot4 UTSW 6 35051503 missense possibly damaging 0.66
R1518:Cnot4 UTSW 6 35051454 missense probably damaging 0.98
R1883:Cnot4 UTSW 6 35078157 missense probably damaging 0.99
R1884:Cnot4 UTSW 6 35078157 missense probably damaging 0.99
R1992:Cnot4 UTSW 6 35023409 missense probably benign
R3500:Cnot4 UTSW 6 35080141 start gained probably benign
R4738:Cnot4 UTSW 6 35051376 missense probably benign 0.28
R5029:Cnot4 UTSW 6 35078027 missense probably damaging 1.00
R5247:Cnot4 UTSW 6 35051416 missense probably damaging 0.96
R5534:Cnot4 UTSW 6 35078004 missense possibly damaging 0.55
R5602:Cnot4 UTSW 6 35051529 nonsense probably null
R6236:Cnot4 UTSW 6 35068673 missense probably benign 0.33
R6701:Cnot4 UTSW 6 35068604 missense probably damaging 1.00
R7252:Cnot4 UTSW 6 35069427 missense probably damaging 1.00
R7360:Cnot4 UTSW 6 35065006 missense probably damaging 1.00
R7479:Cnot4 UTSW 6 35024148 missense probably benign 0.00
Posted On2015-04-16