Incidental Mutation 'IGL02022:Cnot7'
ID 184015
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: 0.509) question?
Stock # IGL02022
Quality Score
Status
Chromosome 8
Chromosomal Location 40945581-40968888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40952386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 190 (P190T)
Ref Sequence ENSEMBL: ENSMUSP00000119319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034012] [ENSMUST00000128166] [ENSMUST00000132032] [ENSMUST00000135269] [ENSMUST00000149992]
AlphaFold Q60809
Predicted Effect probably damaging
Transcript: ENSMUST00000034012
AA Change: P190T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034012
Gene: ENSMUSG00000031601
AA Change: P190T

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: 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 probably damaging
Transcript: ENSMUST00000132032
AA Change: P190T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122933
Gene: ENSMUSG00000031601
AA Change: P190T

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 damaging
Transcript: ENSMUST00000135269
AA Change: P190T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119319
Gene: ENSMUSG00000031601
AA Change: P190T

DomainStartEndE-ValueType
Pfam:CAF1 13 245 7e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142455
Predicted Effect probably damaging
Transcript: ENSMUST00000149992
AA Change: P190T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117304
Gene: ENSMUSG00000031601
AA Change: P190T

DomainStartEndE-ValueType
Pfam:CAF1 13 240 3.4e-73 PFAM
low complexity region 259 268 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144970
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,120,358 (GRCm39) Y160C probably damaging Het
Abi3bp T C 16: 56,412,999 (GRCm39) S314P probably damaging Het
Abra T C 15: 41,732,802 (GRCm39) H88R probably benign Het
Bsn A G 9: 107,987,617 (GRCm39) probably benign Het
Chd3 A C 11: 69,251,886 (GRCm39) C123G probably damaging Het
Clca3b A C 3: 144,547,171 (GRCm39) probably null Het
Cps1 A T 1: 67,212,031 (GRCm39) probably benign Het
Dennd2d A G 3: 106,407,220 (GRCm39) T424A probably benign Het
Dnhd1 C T 7: 105,327,516 (GRCm39) R54C probably damaging Het
Efhd1 G A 1: 87,192,334 (GRCm39) E55K probably damaging Het
Ep300 T C 15: 81,495,638 (GRCm39) probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Klhl3 A T 13: 58,198,878 (GRCm39) S201T possibly damaging Het
Krt1c A G 15: 101,724,953 (GRCm39) F219S probably damaging Het
Lrp1b C T 2: 41,172,172 (GRCm39) D751N probably damaging Het
Lyst T A 13: 13,838,629 (GRCm39) C1848* probably null Het
Macf1 A G 4: 123,284,842 (GRCm39) probably null Het
Med10 T C 13: 69,961,819 (GRCm39) probably benign Het
Msh4 T A 3: 153,592,593 (GRCm39) T170S probably damaging Het
Or52n3 T C 7: 104,530,141 (GRCm39) C76R probably damaging Het
Pelp1 T A 11: 70,297,153 (GRCm39) probably benign Het
Prex2 G A 1: 11,367,963 (GRCm39) V1595I probably benign Het
Prpf8 C T 11: 75,392,660 (GRCm39) R1617* probably null Het
Rabep1 T A 11: 70,825,385 (GRCm39) L684Q probably damaging Het
Slc22a4 G A 11: 53,874,435 (GRCm39) probably benign Het
Smox T C 2: 131,362,037 (GRCm39) F153S probably damaging Het
Tma16 A G 8: 66,939,062 (GRCm39) probably null Het
Unc80 G T 1: 66,665,675 (GRCm39) R1814L possibly damaging Het
Vmn2r108 C T 17: 20,691,987 (GRCm39) D179N possibly damaging Het
Washc2 A G 6: 116,236,126 (GRCm39) E1199G probably benign Het
Zic1 C A 9: 91,244,525 (GRCm39) probably null Het
Other mutations in Cnot7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Cnot7 APN 8 40,960,490 (GRCm39) splice site probably null
IGL02191:Cnot7 APN 8 40,963,068 (GRCm39) missense probably benign 0.33
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 2014-05-07