Incidental Mutation 'IGL02022:Cnot7'
ID184015
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: 0.421) question?
Stock #IGL02022
Quality Score
Status
Chromosome8
Chromosomal Location40492540-40515847 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 40499345 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000144970
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
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: 146,183,548 Y160C probably damaging Het
Abi3bp T C 16: 56,592,636 S314P probably damaging Het
Abra T C 15: 41,869,406 H88R probably benign Het
Bsn A G 9: 108,110,418 probably benign Het
Chd3 A C 11: 69,361,060 C123G probably damaging Het
Clca3b A C 3: 144,841,410 probably null Het
Cps1 A T 1: 67,172,872 probably benign Het
Dennd2d A G 3: 106,499,904 T424A probably benign Het
Dnhd1 C T 7: 105,678,309 R54C probably damaging Het
Efhd1 G A 1: 87,264,612 E55K probably damaging Het
Ep300 T C 15: 81,611,437 probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Klhl3 A T 13: 58,051,064 S201T possibly damaging Het
Krt2 A G 15: 101,816,518 F219S probably damaging Het
Lrp1b C T 2: 41,282,160 D751N probably damaging Het
Lyst T A 13: 13,664,044 C1848* probably null Het
Macf1 A G 4: 123,391,049 probably null Het
Med10 T C 13: 69,813,700 probably benign Het
Msh4 T A 3: 153,886,956 T170S probably damaging Het
Olfr665 T C 7: 104,880,934 C76R probably damaging Het
Pelp1 T A 11: 70,406,327 probably benign Het
Prex2 G A 1: 11,297,739 V1595I probably benign Het
Prpf8 C T 11: 75,501,834 R1617* probably null Het
Rabep1 T A 11: 70,934,559 L684Q probably damaging Het
Slc22a4 G A 11: 53,983,609 probably benign Het
Smox T C 2: 131,520,117 F153S probably damaging Het
Tma16 A G 8: 66,486,410 probably null Het
Unc80 G T 1: 66,626,516 R1814L possibly damaging Het
Vmn2r108 C T 17: 20,471,725 D179N possibly damaging Het
Washc2 A G 6: 116,259,165 E1199G probably benign Het
Zic1 C A 9: 91,362,472 probably null Het
Other mutations in Cnot7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Cnot7 APN 8 40507449 splice site probably null
IGL02191:Cnot7 APN 8 40510027 missense probably benign 0.33
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
R7639:Cnot7 UTSW 8 40507453 critical splice donor site probably null
R7712:Cnot7 UTSW 8 40494081 missense probably damaging 1.00
Z1088:Cnot7 UTSW 8 40500739 critical splice donor site probably benign
Posted On2014-05-07