Incidental Mutation 'IGL02191:Cnot7'
ID283855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot7
Ensembl Gene ENSMUSG00000031601
Gene NameCCR4-NOT transcription complex, subunit 7
SynonymsCaf1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.312) question?
Stock #IGL02191
Quality Score
Status
Chromosome8
Chromosomal Location40492540-40515847 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 40510027 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 35 (N35K)
Ref Sequence ENSEMBL: ENSMUSP00000117304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034012] [ENSMUST00000098817] [ENSMUST00000128166] [ENSMUST00000132032] [ENSMUST00000135269] [ENSMUST00000149992]
Predicted Effect probably benign
Transcript: ENSMUST00000034012
AA Change: N35K

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034012
Gene: ENSMUSG00000031601
AA Change: N35K

DomainStartEndE-ValueType
Pfam:CAF1 15 139 9.1e-15 PFAM
Pfam:CAF1 132 238 1.2e-14 PFAM
low complexity region 259 268 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098817
SMART Domains Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
Blast:UBCc 29 128 6e-6 BLAST
low complexity region 155 164 N/A INTRINSIC
low complexity region 171 189 N/A INTRINSIC
Pfam:Mod_r 235 380 2.7e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128166
SMART Domains Protein: ENSMUSP00000123070
Gene: ENSMUSG00000039470

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
Pfam:zf-DHHC 122 248 1.8e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128237
Predicted Effect probably benign
Transcript: ENSMUST00000132032
AA Change: N35K

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122933
Gene: ENSMUSG00000031601
AA Change: N35K

DomainStartEndE-ValueType
Pfam:CAF1 13 240 3.4e-73 PFAM
low complexity region 259 268 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132740
Predicted Effect probably benign
Transcript: ENSMUST00000135269
AA Change: N35K

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119319
Gene: ENSMUSG00000031601
AA Change: N35K

DomainStartEndE-ValueType
Pfam:CAF1 13 245 7e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146280
Predicted Effect probably benign
Transcript: ENSMUST00000149992
AA Change: N35K

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117304
Gene: ENSMUSG00000031601
AA Change: N35K

DomainStartEndE-ValueType
Pfam:CAF1 13 240 3.4e-73 PFAM
low complexity region 259 268 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164934
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 binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null mice display male sterility with oligo-teratozoospermia, impaired sperm motility, unsynchronized spermatid maturation, and Sertoli cell abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,174,109 I642V probably benign Het
Adam5 G A 8: 24,812,423 R185* probably null Het
C2 T C 17: 34,866,563 I122V probably damaging Het
Camsap1 A G 2: 25,929,880 I1531T probably damaging Het
Celsr1 T C 15: 85,979,004 T1276A possibly damaging Het
Cyp2a12 A G 7: 27,036,611 I482V probably benign Het
Cyp3a57 A G 5: 145,365,685 E97G probably damaging Het
Cyp51 C A 5: 4,100,147 R192I probably benign Het
Ddx59 T C 1: 136,417,158 L189P probably damaging Het
Dnah6 A G 6: 73,017,797 I4127T probably benign Het
Dock3 C T 9: 106,938,141 V1217I probably benign Het
Ergic2 T C 6: 148,204,821 D57G probably null Het
Flvcr2 A T 12: 85,786,192 K329* probably null Het
Foxp1 T C 6: 98,945,600 S327G probably damaging Het
Gen1 A C 12: 11,242,296 H562Q probably benign Het
Gjc2 A G 11: 59,177,560 V32A probably damaging Het
Grk4 C T 5: 34,755,189 H574Y probably benign Het
Kif15 T A 9: 122,975,679 C93S probably damaging Het
Lrtm1 A C 14: 29,021,949 I125L probably benign Het
Mrgprb8 A G 7: 48,388,779 Y66C probably damaging Het
Pfn1 G A 11: 70,654,383 A33V probably damaging Het
Scnn1b A C 7: 121,917,513 K492Q probably damaging Het
Slc22a29 G A 19: 8,218,681 probably benign Het
Spocd1 A G 4: 129,953,587 D523G probably damaging Het
Tmem144 A T 3: 79,826,852 D181E possibly damaging Het
Tmem220 G A 11: 67,031,107 C101Y probably damaging Het
Tmpo A G 10: 91,161,879 V682A probably benign Het
Wdr93 A G 7: 79,749,220 K34R probably damaging Het
Zdhhc16 C A 19: 41,937,691 C8* probably null Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Cnot7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Cnot7 APN 8 40507449 splice site probably null
IGL02022:Cnot7 APN 8 40499345 missense probably damaging 1.00
R0047:Cnot7 UTSW 8 40495921 splice site probably benign
R0047:Cnot7 UTSW 8 40495921 splice site probably benign
R0166:Cnot7 UTSW 8 40507453 critical splice donor site probably null
R3884:Cnot7 UTSW 8 40510130 start codon destroyed probably null 0.01
R5369:Cnot7 UTSW 8 40494020 missense probably benign 0.12
R5991:Cnot7 UTSW 8 40495655 intron probably null
R6101:Cnot7 UTSW 8 40510037 missense probably benign
R6105:Cnot7 UTSW 8 40510037 missense probably benign
R7299:Cnot7 UTSW 8 40507545 missense probably damaging 1.00
R7548:Cnot7 UTSW 8 40500833 missense probably damaging 1.00
Z1088:Cnot7 UTSW 8 40500739 critical splice donor site probably benign
Posted On2015-04-16