Incidental Mutation 'IGL01474:Cnot7'
ID 88405
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
Is this an essential gene? Possibly essential (E-score: 0.601) question?
Stock # IGL01474
Quality Score
Status
Chromosome 8
Chromosomal Location 40492540-40515847 bp(-) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 40507449 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034012] [ENSMUST00000098817] [ENSMUST00000128166] [ENSMUST00000132032] [ENSMUST00000135269] [ENSMUST00000149992]
AlphaFold Q60809
Predicted Effect probably null
Transcript: ENSMUST00000034012
SMART Domains Protein: ENSMUSP00000034012
Gene: ENSMUSG00000031601

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 null
Transcript: ENSMUST00000132032
SMART Domains Protein: ENSMUSP00000122933
Gene: ENSMUSG00000031601

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 null
Transcript: ENSMUST00000135269
SMART Domains Protein: ENSMUSP00000119319
Gene: ENSMUSG00000031601

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 null
Transcript: ENSMUST00000149992
SMART Domains Protein: ENSMUSP00000117304
Gene: ENSMUSG00000031601

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A T 13: 91,772,783 K336I possibly damaging Het
Acsbg2 A G 17: 56,861,621 I166T possibly damaging Het
Bpifc T A 10: 86,000,639 M1L probably damaging Het
Ccnb2 T A 9: 70,419,023 N44I probably benign Het
Cdc73 C T 1: 143,671,332 V276M probably benign Het
Col11a1 T A 3: 114,217,134 probably benign Het
Coro1c T C 5: 113,882,155 probably benign Het
Crocc A G 4: 141,035,392 probably benign Het
Dync2h1 A T 9: 7,102,493 Y396N probably benign Het
Gm2888 T A 14: 3,032,041 D116E probably damaging Het
Gm29326 A T 7: 29,562,589 noncoding transcript Het
Gm9774 G T 3: 92,428,343 Q351K probably damaging Het
Greb1 A G 12: 16,684,501 V1496A probably benign Het
Hdac7 A G 15: 97,797,939 probably null Het
Hectd4 A G 5: 121,336,649 T2778A possibly damaging Het
Hist2h2bb A G 3: 96,269,809 probably benign Het
Hivep2 A T 10: 14,143,662 H2059L probably damaging Het
Ift88 A T 14: 57,478,074 I525F probably benign Het
Itga5 G A 15: 103,354,270 Q324* probably null Het
Klhl14 T G 18: 21,557,854 H513P probably damaging Het
Lama5 A T 2: 180,196,570 D837E probably damaging Het
Mrvi1 A T 7: 110,871,433 S898T possibly damaging Het
Muc6 C A 7: 141,651,307 C215F probably damaging Het
Myh15 A G 16: 49,132,098 K844E probably damaging Het
Neb A G 2: 52,328,905 V31A unknown Het
Nipbl A G 15: 8,311,209 I2009T possibly damaging Het
Olfr700 A G 7: 106,805,940 I174T probably benign Het
Piwil2 T C 14: 70,398,218 R536G probably benign Het
Pld3 A G 7: 27,532,619 V412A probably damaging Het
Prkaa2 A C 4: 105,049,332 probably null Het
Rdh9 T C 10: 127,790,945 L289P probably damaging Het
Rusc2 C T 4: 43,416,434 S580L probably damaging Het
Sidt2 A G 9: 45,946,982 probably null Het
Slc18b1 A T 10: 23,803,850 K92N probably benign Het
Slc20a2 G A 8: 22,535,557 V92M possibly damaging Het
Slc4a11 A T 2: 130,685,544 F644I probably damaging Het
Spata31d1d A T 13: 59,730,215 probably benign Het
Spef2 T C 15: 9,663,158 M846V probably benign Het
Syncrip T C 9: 88,480,747 T3A probably benign Het
Other mutations in Cnot7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02022:Cnot7 APN 8 40499345 missense probably damaging 1.00
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 splice site 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
R8069:Cnot7 UTSW 8 40507473 missense possibly damaging 0.95
R8128:Cnot7 UTSW 8 40510088 missense probably damaging 1.00
R8757:Cnot7 UTSW 8 40494039 missense probably benign
R9251:Cnot7 UTSW 8 40511581 unclassified probably benign
Z1088:Cnot7 UTSW 8 40500739 critical splice donor site probably benign
Posted On 2013-11-18