Incidental Mutation 'IGL02191:Cnot7'
ID 283855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot7
Ensembl Gene ENSMUSG00000031601
Gene Name CCR4-NOT transcription complex, subunit 7
Synonyms Caf1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.537) question?
Stock # IGL02191
Quality Score
Status
Chromosome 8
Chromosomal Location 40945581-40968888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40963068 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q60809
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 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 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: ENSMUST00000139558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132740
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: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
C2 T C 17: 35,085,539 (GRCm39) I122V probably damaging Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Cyp3a57 A G 5: 145,302,495 (GRCm39) E97G probably damaging Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Ddx59 T C 1: 136,344,896 (GRCm39) L189P probably damaging Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Lrtm1 A C 14: 28,743,906 (GRCm39) I125L probably benign Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Spocd1 A G 4: 129,847,380 (GRCm39) D523G probably damaging Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmem220 G A 11: 66,921,933 (GRCm39) C101Y probably damaging Het
Tmpo A G 10: 90,997,741 (GRCm39) V682A probably benign Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Cnot7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Cnot7 APN 8 40,960,490 (GRCm39) splice site probably null
IGL02022:Cnot7 APN 8 40,952,386 (GRCm39) missense probably damaging 1.00
R0047:Cnot7 UTSW 8 40,948,962 (GRCm39) splice site probably benign
R0047:Cnot7 UTSW 8 40,948,962 (GRCm39) splice site probably benign
R0166:Cnot7 UTSW 8 40,960,494 (GRCm39) critical splice donor site probably null
R3884:Cnot7 UTSW 8 40,963,171 (GRCm39) start codon destroyed probably null 0.01
R5369:Cnot7 UTSW 8 40,947,061 (GRCm39) missense probably benign 0.12
R5991:Cnot7 UTSW 8 40,948,696 (GRCm39) splice site probably null
R6101:Cnot7 UTSW 8 40,963,078 (GRCm39) missense probably benign
R6105:Cnot7 UTSW 8 40,963,078 (GRCm39) missense probably benign
R7299:Cnot7 UTSW 8 40,960,586 (GRCm39) missense probably damaging 1.00
R7548:Cnot7 UTSW 8 40,953,874 (GRCm39) missense probably damaging 1.00
R7639:Cnot7 UTSW 8 40,960,494 (GRCm39) critical splice donor site probably null
R7712:Cnot7 UTSW 8 40,947,122 (GRCm39) missense probably damaging 1.00
R8069:Cnot7 UTSW 8 40,960,514 (GRCm39) missense possibly damaging 0.95
R8128:Cnot7 UTSW 8 40,963,129 (GRCm39) missense probably damaging 1.00
R8757:Cnot7 UTSW 8 40,947,080 (GRCm39) missense probably benign
R9251:Cnot7 UTSW 8 40,964,622 (GRCm39) unclassified probably benign
Z1088:Cnot7 UTSW 8 40,953,780 (GRCm39) critical splice donor site probably benign
Posted On 2015-04-16