Incidental Mutation 'IGL03102:Cnot3'
ID418806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot3
Ensembl Gene ENSMUSG00000035632
Gene NameCCR4-NOT transcription complex, subunit 3
SynonymsA930039N10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03102
Quality Score
Status
Chromosome7
Chromosomal Location3645268-3661109 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 3656156 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 467 (S467*)
Ref Sequence ENSEMBL: ENSMUSP00000039098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019878] [ENSMUST00000038913] [ENSMUST00000160200] [ENSMUST00000206287]
Predicted Effect probably benign
Transcript: ENSMUST00000019878
SMART Domains Protein: ENSMUSP00000019878
Gene: ENSMUSG00000078813

DomainStartEndE-ValueType
Cir_N 8 44 2.43e-9 SMART
low complexity region 94 109 N/A INTRINSIC
low complexity region 171 192 N/A INTRINSIC
coiled coil region 198 222 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000038913
AA Change: S467*
SMART Domains Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: S467*

DomainStartEndE-ValueType
Pfam:Not3 3 232 6.5e-99 PFAM
low complexity region 257 274 N/A INTRINSIC
low complexity region 316 338 N/A INTRINSIC
low complexity region 384 426 N/A INTRINSIC
low complexity region 441 450 N/A INTRINSIC
low complexity region 473 509 N/A INTRINSIC
low complexity region 570 587 N/A INTRINSIC
Pfam:NOT2_3_5 618 745 3.7e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129973
Predicted Effect probably benign
Transcript: ENSMUST00000132344
SMART Domains Protein: ENSMUSP00000117297
Gene: ENSMUSG00000035632

DomainStartEndE-ValueType
Pfam:Not3 1 189 8.9e-77 PFAM
low complexity region 214 231 N/A INTRINSIC
SCOP:d1cpo_2 260 335 7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135977
SMART Domains Protein: ENSMUSP00000118822
Gene: ENSMUSG00000035632

DomainStartEndE-ValueType
Pfam:Not3 1 78 1.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143085
Predicted Effect probably benign
Transcript: ENSMUST00000160200
SMART Domains Protein: ENSMUSP00000124810
Gene: ENSMUSG00000035632

DomainStartEndE-ValueType
Pfam:NOT2_3_5 1 83 3.1e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175549
Predicted Effect probably benign
Transcript: ENSMUST00000206287
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show defective outgrowth of the inner cell mass and complete embryonic lethality at implantation. Heterozygotes exhibit decreased cardiac muscle contractility and develop severe cardiomyopathy leading to heart failure in response to pressure overload. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik T C 7: 127,384,779 T384A probably benign Het
Alpk3 T C 7: 81,095,056 probably null Het
Alyref G A 11: 120,597,765 P79L possibly damaging Het
Arhgap28 T C 17: 67,896,236 D74G probably damaging Het
Arhgap8 G T 15: 84,766,307 probably benign Het
Atp1a4 T A 1: 172,231,151 D909V probably damaging Het
Cdc5l A T 17: 45,407,931 D586E probably damaging Het
Chd3 G T 11: 69,361,196 Y79* probably null Het
Col18a1 A T 10: 77,067,623 probably benign Het
Col19a1 C A 1: 24,328,053 G483C probably damaging Het
Col5a3 A C 9: 20,804,635 probably null Het
Dctn5 A T 7: 122,133,159 N9I probably benign Het
Emc10 T A 7: 44,491,989 N225I probably damaging Het
Fam213b T C 4: 154,896,601 probably benign Het
Fam219b A G 9: 57,540,698 Y158C probably damaging Het
Fras1 T C 5: 96,726,535 V2273A probably benign Het
Frem3 T A 8: 80,613,032 H651Q possibly damaging Het
Gm13023 T C 4: 143,793,546 V120A possibly damaging Het
Gm4076 T A 13: 85,127,319 noncoding transcript Het
Gpr35 A T 1: 92,982,577 T4S probably benign Het
Ifnab T G 4: 88,690,825 T135P possibly damaging Het
Jag1 T C 2: 137,084,688 I979V probably benign Het
Kank1 G T 19: 25,425,918 M1097I probably damaging Het
Kcnq3 A G 15: 66,028,788 V206A probably damaging Het
Kel T C 6: 41,702,983 K91R probably benign Het
Kirrel G T 3: 87,083,500 R672S probably damaging Het
Kmt2d A G 15: 98,855,543 M143T probably benign Het
Kpna1 A G 16: 36,012,919 I122V probably damaging Het
Lrpap1 A G 5: 35,093,350 S353P probably damaging Het
Mtfr1l T A 4: 134,532,232 Q11L probably damaging Het
Muc5b G A 7: 141,863,069 V3251M probably benign Het
Mup8 C T 4: 60,219,746 D174N probably benign Het
Nup155 A T 15: 8,147,284 E1015D probably benign Het
Olfr1338 C A 4: 118,753,934 L201F probably benign Het
Olfr1499 T C 19: 13,815,371 Y73C probably damaging Het
P2rx7 T C 5: 122,663,605 F188L possibly damaging Het
Pacrg A G 17: 10,839,832 F13L probably benign Het
Palb2 A T 7: 122,124,499 S676T possibly damaging Het
Pdia6 T A 12: 17,281,039 probably null Het
Pfkm A T 15: 98,126,385 I425F possibly damaging Het
Pikfyve C T 1: 65,252,467 R1282* probably null Het
Pole C T 5: 110,297,073 L432F probably damaging Het
Psat1 A G 19: 15,906,123 Y343H probably damaging Het
Ptprj C T 2: 90,478,968 R51K probably benign Het
Qars A G 9: 108,508,919 D103G probably benign Het
Rims2 A T 15: 39,459,593 I768F possibly damaging Het
Robo4 T A 9: 37,404,185 V275E probably damaging Het
Ryr2 A G 13: 11,635,582 probably benign Het
Sez6l T C 5: 112,475,403 H94R probably benign Het
Slco1c1 T A 6: 141,544,827 N211K possibly damaging Het
Strbp T C 2: 37,586,503 probably benign Het
Tceanc2 T A 4: 107,147,681 H90L probably damaging Het
Tdrkh A T 3: 94,424,537 T90S possibly damaging Het
Tiam2 A G 17: 3,509,548 D1288G probably damaging Het
Tln1 T C 4: 43,532,861 D2447G possibly damaging Het
Tmem63c G A 12: 87,065,549 V141M probably benign Het
Tpp2 T A 1: 43,956,489 V268E probably damaging Het
Tprkb T A 6: 85,924,418 C13S probably benign Het
Traf3ip3 T C 1: 193,195,077 T184A probably damaging Het
Trpc6 T A 9: 8,649,301 M504K probably benign Het
Ttn G T 2: 76,767,223 S18036* probably null Het
Wdfy4 A T 14: 32,966,435 C2914S probably damaging Het
Ylpm1 T A 12: 85,049,258 probably benign Het
Zfp644 T C 5: 106,637,268 H471R probably damaging Het
Zfyve16 C T 13: 92,511,817 E910K possibly damaging Het
Other mutations in Cnot3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Cnot3 APN 7 3650855 missense probably damaging 1.00
IGL02231:Cnot3 APN 7 3658210 missense probably benign 0.00
IGL02476:Cnot3 APN 7 3658068 missense probably benign 0.01
IGL03181:Cnot3 APN 7 3653248 missense probably damaging 1.00
secondary UTSW 7 3651919 missense probably damaging 1.00
R4531:Cnot3 UTSW 7 3658074 missense probably benign
R4564:Cnot3 UTSW 7 3653258 missense probably damaging 1.00
R5071:Cnot3 UTSW 7 3650861 missense probably damaging 1.00
R5649:Cnot3 UTSW 7 3658083 missense probably benign 0.08
R5869:Cnot3 UTSW 7 3644930 unclassified probably benign
R6120:Cnot3 UTSW 7 3645336 unclassified probably null
R6759:Cnot3 UTSW 7 3651919 missense probably damaging 1.00
R7305:Cnot3 UTSW 7 3645480 start gained probably benign
R7369:Cnot3 UTSW 7 3653331 missense possibly damaging 0.77
RF010:Cnot3 UTSW 7 3656069 missense probably benign 0.01
Posted On2016-08-02