Incidental Mutation 'R2072:Cnot1'
ID 227238
Institutional Source Beutler Lab
Gene Symbol Cnot1
Ensembl Gene ENSMUSG00000036550
Gene Name CCR4-NOT transcription complex, subunit 1
Synonyms 6030411K04Rik
MMRRC Submission 040077-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2072 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95719451-95807464 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95739833 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1592 (T1592K)
Ref Sequence ENSEMBL: ENSMUSP00000148735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068452] [ENSMUST00000098473] [ENSMUST00000211887] [ENSMUST00000213006]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000068452
AA Change: T1587K

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063565
Gene: ENSMUSG00000036550
AA Change: T1587K

DomainStartEndE-ValueType
low complexity region 181 189 N/A INTRINSIC
low complexity region 687 698 N/A INTRINSIC
low complexity region 779 796 N/A INTRINSIC
PDB:4J8S|A 798 999 1e-137 PDB
low complexity region 1011 1028 N/A INTRINSIC
low complexity region 1031 1055 N/A INTRINSIC
PDB:4CT4|C 1056 1295 1e-148 PDB
low complexity region 1296 1308 N/A INTRINSIC
low complexity region 1328 1345 N/A INTRINSIC
Pfam:DUF3819 1381 1530 2.5e-56 PFAM
low complexity region 1634 1648 N/A INTRINSIC
Pfam:Not1 1991 2305 2.4e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098473
AA Change: T1592K

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096073
Gene: ENSMUSG00000036550
AA Change: T1592K

DomainStartEndE-ValueType
low complexity region 181 189 N/A INTRINSIC
Pfam:CNOT1_HEAT 500 656 2.4e-57 PFAM
low complexity region 687 698 N/A INTRINSIC
low complexity region 779 796 N/A INTRINSIC
Pfam:CNOT1_TTP_bind 812 1004 1.4e-87 PFAM
low complexity region 1016 1033 N/A INTRINSIC
low complexity region 1036 1060 N/A INTRINSIC
Pfam:CNOT1_CAF1_bind 1087 1313 5.7e-99 PFAM
low complexity region 1333 1350 N/A INTRINSIC
Pfam:DUF3819 1387 1534 2.3e-57 PFAM
low complexity region 1639 1653 N/A INTRINSIC
Pfam:Not1 1998 2357 5.7e-157 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211887
AA Change: T1585K

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000211973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212340
Predicted Effect probably benign
Transcript: ENSMUST00000212415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212712
Predicted Effect possibly damaging
Transcript: ENSMUST00000213006
AA Change: T1592K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice hmozygous for a conditional allele activated in cardiomyocytes exhibit postnatal lethality, decreased cardiac muscle contractility, prolonged QT interval and cardiac muscle cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 63,898,737 (GRCm38) R272P possibly damaging Het
9130011E15Rik A T 19: 45,965,381 (GRCm38) I188K probably damaging Het
Ablim3 A T 18: 61,857,088 (GRCm38) D83E possibly damaging Het
Aco1 G A 4: 40,183,605 (GRCm38) G508S probably damaging Het
Adamts13 C A 2: 27,005,425 (GRCm38) T1176N probably benign Het
Adgre5 T C 8: 83,727,804 (GRCm38) T357A probably benign Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Ankrd33 T C 15: 101,119,636 (GRCm38) V310A probably benign Het
Bnipl C T 3: 95,244,211 (GRCm38) G232E probably damaging Het
Btbd17 A T 11: 114,791,952 (GRCm38) probably null Het
Cacna1s G A 1: 136,079,504 (GRCm38) V173I probably benign Het
Ccdc122 T C 14: 77,068,951 (GRCm38) probably null Het
Ces1a T A 8: 93,048,075 (GRCm38) N12Y probably benign Het
Chrdl1 T C X: 143,303,418 (GRCm38) I231V probably benign Het
Ciita C T 16: 10,518,353 (GRCm38) T958I probably benign Het
Dcaf15 T C 8: 84,101,741 (GRCm38) D240G probably damaging Het
Ddx58 A T 4: 40,224,069 (GRCm38) probably null Het
Dlgap1 C T 17: 70,662,770 (GRCm38) R524C probably damaging Het
Dmd G C X: 84,312,483 (GRCm38) A2257P probably benign Het
Dsg1c A G 18: 20,275,252 (GRCm38) M453V probably benign Het
Ednrb G T 14: 103,817,099 (GRCm38) N432K probably benign Het
Fcgbp G A 7: 28,120,389 (GRCm38) G2514S probably damaging Het
Fez1 A G 9: 36,867,945 (GRCm38) K306R probably benign Het
Fmo4 A G 1: 162,809,887 (GRCm38) V12A probably benign Het
Fpgt T C 3: 155,087,874 (GRCm38) Y172C probably damaging Het
Fsip2 T A 2: 83,008,815 (GRCm38) F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 (GRCm38) R205* probably null Het
Grik5 A T 7: 25,015,313 (GRCm38) M752K possibly damaging Het
Herc2 A G 7: 56,226,964 (GRCm38) N4516S probably damaging Het
Ifrd2 A T 9: 107,592,545 (GRCm38) D439V probably damaging Het
Igsf3 A G 3: 101,439,515 (GRCm38) T609A probably benign Het
Kif5a T C 10: 127,245,369 (GRCm38) D232G probably damaging Het
Lgi2 A G 5: 52,538,505 (GRCm38) S371P probably damaging Het
March3 A T 18: 56,811,853 (GRCm38) V56E possibly damaging Het
Mib2 T C 4: 155,659,701 (GRCm38) D168G probably damaging Het
Nhs T A X: 161,842,721 (GRCm38) H544L probably damaging Het
Nlrp2 A G 7: 5,325,006 (GRCm38) S683P probably damaging Het
Olfr1260 C A 2: 89,978,213 (GRCm38) T145K probably benign Het
Olfr1454 A T 19: 13,063,680 (GRCm38) M90L probably benign Het
Olfr527 T C 7: 140,336,653 (GRCm38) S264P possibly damaging Het
Onecut3 T G 10: 80,495,014 (GRCm38) L3V unknown Het
Otogl C T 10: 107,781,043 (GRCm38) C1791Y probably damaging Het
Paip1 T C 13: 119,430,262 (GRCm38) V128A possibly damaging Het
Pcnx2 A T 8: 125,761,742 (GRCm38) C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,819 (GRCm38) L955P probably damaging Het
Phlpp2 T C 8: 109,928,492 (GRCm38) S605P possibly damaging Het
Pkhd1l1 G T 15: 44,558,639 (GRCm38) A3102S probably damaging Het
Plxnb2 G T 15: 89,158,451 (GRCm38) R1545S probably damaging Het
Ppp4c T C 7: 126,787,348 (GRCm38) probably null Het
Prune1 C T 3: 95,255,408 (GRCm38) R318Q probably benign Het
Psg27 A G 7: 18,565,009 (GRCm38) L129P probably benign Het
Psg27 T C 7: 18,560,417 (GRCm38) D355G probably damaging Het
Psmc6 A G 14: 45,329,866 (GRCm38) K7E possibly damaging Het
Reln A T 5: 21,919,177 (GRCm38) V2777E probably damaging Het
Scn11a G T 9: 119,811,208 (GRCm38) A207E possibly damaging Het
Slc5a5 C T 8: 70,892,439 (GRCm38) G75R possibly damaging Het
Smarcd2 A T 11: 106,265,307 (GRCm38) L42* probably null Het
Smg1 T C 7: 118,163,166 (GRCm38) probably benign Het
Smurf2 T A 11: 106,841,769 (GRCm38) Q335L probably benign Het
Sspo A T 6: 48,473,517 (GRCm38) H2580L probably benign Het
Stk3 T C 15: 34,959,049 (GRCm38) M256V possibly damaging Het
Syt1 A G 10: 108,583,972 (GRCm38) I276T probably damaging Het
Syt10 C T 15: 89,790,776 (GRCm38) D456N probably damaging Het
Taar9 A T 10: 24,108,979 (GRCm38) C186S probably damaging Het
Tnrc6b C T 15: 80,882,965 (GRCm38) P977L possibly damaging Het
Trp53bp2 A G 1: 182,458,867 (GRCm38) T1091A probably benign Het
Ttn G T 2: 76,937,776 (GRCm38) T2947N probably damaging Het
Ube2q1 T C 3: 89,779,571 (GRCm38) probably null Het
Ube3c A G 5: 29,635,640 (GRCm38) E671G probably benign Het
Upf3a A G 8: 13,785,850 (GRCm38) K56R possibly damaging Het
Vmn2r15 A T 5: 109,286,753 (GRCm38) M695K possibly damaging Het
Vmn2r3 A T 3: 64,275,072 (GRCm38) M402K possibly damaging Het
Zfp354b T A 11: 50,922,452 (GRCm38) R549* probably null Het
Zfp37 A T 4: 62,191,708 (GRCm38) M411K probably damaging Het
Zfp747 T A 7: 127,373,970 (GRCm38) T343S possibly damaging Het
Zfp853 T A 5: 143,289,382 (GRCm38) Q161L unknown Het
Other mutations in Cnot1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cnot1 APN 8 95,726,079 (GRCm38) missense probably damaging 1.00
IGL01340:Cnot1 APN 8 95,760,537 (GRCm38) missense probably damaging 1.00
IGL01457:Cnot1 APN 8 95,741,009 (GRCm38) missense probably damaging 1.00
IGL01505:Cnot1 APN 8 95,728,718 (GRCm38) missense probably damaging 0.98
IGL02401:Cnot1 APN 8 95,756,133 (GRCm38) missense possibly damaging 0.95
IGL02693:Cnot1 APN 8 95,773,485 (GRCm38) missense probably damaging 1.00
IGL02696:Cnot1 APN 8 95,745,017 (GRCm38) missense probably benign 0.00
IGL02754:Cnot1 APN 8 95,755,078 (GRCm38) missense probably benign 0.03
IGL03092:Cnot1 APN 8 95,769,615 (GRCm38) intron probably benign
IGL03174:Cnot1 APN 8 95,761,355 (GRCm38) missense probably damaging 1.00
IGL03310:Cnot1 APN 8 95,735,680 (GRCm38) splice site probably benign
IGL03371:Cnot1 APN 8 95,774,716 (GRCm38) missense possibly damaging 0.85
Affiliate UTSW 8 95,765,125 (GRCm38) missense probably damaging 0.99
Barge UTSW 8 95,734,129 (GRCm38) missense probably benign 0.13
Byproduct UTSW 8 95,745,647 (GRCm38) frame shift probably null
Chairman UTSW 8 95,765,027 (GRCm38) missense possibly damaging 0.95
cohort UTSW 8 95,735,749 (GRCm38) missense probably damaging 0.99
Director UTSW 8 95,765,062 (GRCm38) missense probably benign 0.15
kowloon UTSW 8 95,788,658 (GRCm38) missense probably damaging 1.00
Quorum UTSW 8 95,726,118 (GRCm38) missense probably damaging 1.00
tugboat UTSW 8 95,773,618 (GRCm38) missense probably damaging 0.99
Xiao UTSW 8 95,730,420 (GRCm38) missense probably damaging 1.00
BB001:Cnot1 UTSW 8 95,745,647 (GRCm38) frame shift probably null
BB003:Cnot1 UTSW 8 95,745,647 (GRCm38) frame shift probably null
BB011:Cnot1 UTSW 8 95,745,647 (GRCm38) frame shift probably null
BB013:Cnot1 UTSW 8 95,745,647 (GRCm38) frame shift probably null
R0008:Cnot1 UTSW 8 95,761,341 (GRCm38) missense probably damaging 1.00
R0008:Cnot1 UTSW 8 95,761,341 (GRCm38) missense probably damaging 1.00
R0091:Cnot1 UTSW 8 95,763,144 (GRCm38) missense probably damaging 1.00
R0335:Cnot1 UTSW 8 95,772,000 (GRCm38) missense probably benign 0.02
R0409:Cnot1 UTSW 8 95,748,855 (GRCm38) missense probably damaging 0.96
R0445:Cnot1 UTSW 8 95,760,208 (GRCm38) missense probably damaging 1.00
R1505:Cnot1 UTSW 8 95,728,667 (GRCm38) missense probably damaging 1.00
R1517:Cnot1 UTSW 8 95,743,213 (GRCm38) missense probably benign 0.38
R1640:Cnot1 UTSW 8 95,769,832 (GRCm38) missense probably damaging 0.98
R1737:Cnot1 UTSW 8 95,748,276 (GRCm38) missense probably damaging 0.98
R1755:Cnot1 UTSW 8 95,724,577 (GRCm38) missense probably damaging 1.00
R1901:Cnot1 UTSW 8 95,743,121 (GRCm38) missense possibly damaging 0.50
R1902:Cnot1 UTSW 8 95,743,121 (GRCm38) missense possibly damaging 0.50
R1903:Cnot1 UTSW 8 95,743,121 (GRCm38) missense possibly damaging 0.50
R1988:Cnot1 UTSW 8 95,741,944 (GRCm38) missense possibly damaging 0.89
R2051:Cnot1 UTSW 8 95,724,593 (GRCm38) missense possibly damaging 0.47
R2054:Cnot1 UTSW 8 95,739,841 (GRCm38) missense possibly damaging 0.55
R2074:Cnot1 UTSW 8 95,739,833 (GRCm38) missense possibly damaging 0.89
R2075:Cnot1 UTSW 8 95,739,833 (GRCm38) missense possibly damaging 0.89
R2093:Cnot1 UTSW 8 95,775,358 (GRCm38) missense probably damaging 1.00
R2116:Cnot1 UTSW 8 95,726,153 (GRCm38) missense probably damaging 1.00
R2191:Cnot1 UTSW 8 95,761,426 (GRCm38) missense probably damaging 0.98
R2238:Cnot1 UTSW 8 95,769,521 (GRCm38) missense probably benign 0.04
R2239:Cnot1 UTSW 8 95,769,521 (GRCm38) missense probably benign 0.04
R2251:Cnot1 UTSW 8 95,763,186 (GRCm38) missense probably benign 0.00
R2252:Cnot1 UTSW 8 95,763,186 (GRCm38) missense probably benign 0.00
R2253:Cnot1 UTSW 8 95,763,186 (GRCm38) missense probably benign 0.00
R2315:Cnot1 UTSW 8 95,749,062 (GRCm38) missense probably damaging 1.00
R2431:Cnot1 UTSW 8 95,774,652 (GRCm38) missense probably damaging 1.00
R2988:Cnot1 UTSW 8 95,744,278 (GRCm38) missense possibly damaging 0.80
R2989:Cnot1 UTSW 8 95,744,278 (GRCm38) missense possibly damaging 0.80
R3108:Cnot1 UTSW 8 95,735,749 (GRCm38) missense probably damaging 0.99
R3109:Cnot1 UTSW 8 95,735,749 (GRCm38) missense probably damaging 0.99
R3114:Cnot1 UTSW 8 95,744,278 (GRCm38) missense possibly damaging 0.80
R3115:Cnot1 UTSW 8 95,744,278 (GRCm38) missense possibly damaging 0.80
R3153:Cnot1 UTSW 8 95,744,278 (GRCm38) missense possibly damaging 0.80
R3154:Cnot1 UTSW 8 95,744,278 (GRCm38) missense possibly damaging 0.80
R4112:Cnot1 UTSW 8 95,773,618 (GRCm38) missense probably damaging 0.99
R4359:Cnot1 UTSW 8 95,739,848 (GRCm38) missense probably damaging 1.00
R4382:Cnot1 UTSW 8 95,769,779 (GRCm38) missense probably damaging 0.97
R4747:Cnot1 UTSW 8 95,774,682 (GRCm38) missense probably benign 0.27
R4910:Cnot1 UTSW 8 95,733,231 (GRCm38) missense probably benign 0.43
R4913:Cnot1 UTSW 8 95,763,067 (GRCm38) missense possibly damaging 0.63
R4971:Cnot1 UTSW 8 95,721,626 (GRCm38) missense probably damaging 1.00
R5056:Cnot1 UTSW 8 95,741,008 (GRCm38) missense probably damaging 1.00
R5092:Cnot1 UTSW 8 95,752,768 (GRCm38) missense possibly damaging 0.91
R5101:Cnot1 UTSW 8 95,760,187 (GRCm38) missense possibly damaging 0.90
R5498:Cnot1 UTSW 8 95,757,355 (GRCm38) missense possibly damaging 0.92
R5719:Cnot1 UTSW 8 95,744,296 (GRCm38) missense possibly damaging 0.92
R5850:Cnot1 UTSW 8 95,734,147 (GRCm38) nonsense probably null
R5956:Cnot1 UTSW 8 95,754,978 (GRCm38) critical splice donor site probably null
R5981:Cnot1 UTSW 8 95,788,665 (GRCm38) missense probably damaging 1.00
R6093:Cnot1 UTSW 8 95,748,894 (GRCm38) missense probably benign 0.03
R6108:Cnot1 UTSW 8 95,730,420 (GRCm38) missense probably damaging 1.00
R6261:Cnot1 UTSW 8 95,741,921 (GRCm38) missense probably benign 0.00
R6632:Cnot1 UTSW 8 95,773,267 (GRCm38) intron probably benign
R6882:Cnot1 UTSW 8 95,720,426 (GRCm38) missense possibly damaging 0.85
R6966:Cnot1 UTSW 8 95,724,532 (GRCm38) missense probably damaging 1.00
R6985:Cnot1 UTSW 8 95,734,129 (GRCm38) missense probably benign 0.13
R7210:Cnot1 UTSW 8 95,788,658 (GRCm38) missense probably damaging 1.00
R7410:Cnot1 UTSW 8 95,733,159 (GRCm38) missense possibly damaging 0.77
R7623:Cnot1 UTSW 8 95,727,648 (GRCm38) missense probably damaging 1.00
R7624:Cnot1 UTSW 8 95,751,819 (GRCm38) missense probably damaging 1.00
R7695:Cnot1 UTSW 8 95,770,632 (GRCm38) missense probably benign 0.03
R7703:Cnot1 UTSW 8 95,760,098 (GRCm38) critical splice donor site probably null
R7771:Cnot1 UTSW 8 95,765,125 (GRCm38) missense probably damaging 0.99
R7800:Cnot1 UTSW 8 95,765,062 (GRCm38) missense probably benign 0.15
R7809:Cnot1 UTSW 8 95,751,778 (GRCm38) missense probably damaging 1.00
R7857:Cnot1 UTSW 8 95,745,647 (GRCm38) frame shift probably null
R7914:Cnot1 UTSW 8 95,745,647 (GRCm38) frame shift probably null
R7924:Cnot1 UTSW 8 95,745,647 (GRCm38) frame shift probably null
R7926:Cnot1 UTSW 8 95,745,647 (GRCm38) frame shift probably null
R7981:Cnot1 UTSW 8 95,763,169 (GRCm38) missense probably damaging 1.00
R8004:Cnot1 UTSW 8 95,752,752 (GRCm38) missense probably benign 0.03
R8061:Cnot1 UTSW 8 95,765,027 (GRCm38) missense possibly damaging 0.95
R8185:Cnot1 UTSW 8 95,761,351 (GRCm38) missense probably damaging 1.00
R8269:Cnot1 UTSW 8 95,751,761 (GRCm38) missense probably damaging 1.00
R8306:Cnot1 UTSW 8 95,747,021 (GRCm38) missense probably benign 0.05
R8322:Cnot1 UTSW 8 95,769,844 (GRCm38) missense probably benign 0.00
R8427:Cnot1 UTSW 8 95,734,324 (GRCm38) missense probably benign 0.01
R8723:Cnot1 UTSW 8 95,736,279 (GRCm38) missense probably benign 0.00
R8934:Cnot1 UTSW 8 95,765,067 (GRCm38) missense probably benign 0.04
R9025:Cnot1 UTSW 8 95,749,032 (GRCm38) missense probably benign
R9179:Cnot1 UTSW 8 95,773,426 (GRCm38) missense probably benign 0.16
R9280:Cnot1 UTSW 8 95,770,599 (GRCm38) missense probably benign 0.15
R9285:Cnot1 UTSW 8 95,726,118 (GRCm38) missense probably damaging 1.00
R9299:Cnot1 UTSW 8 95,741,820 (GRCm38) missense probably damaging 1.00
R9337:Cnot1 UTSW 8 95,741,820 (GRCm38) missense probably damaging 1.00
R9480:Cnot1 UTSW 8 95,770,710 (GRCm38) missense possibly damaging 0.94
R9548:Cnot1 UTSW 8 95,756,226 (GRCm38) missense probably benign 0.02
R9601:Cnot1 UTSW 8 95,756,207 (GRCm38) missense probably benign 0.02
R9629:Cnot1 UTSW 8 95,729,246 (GRCm38) missense probably damaging 0.98
R9752:Cnot1 UTSW 8 95,761,391 (GRCm38) missense probably damaging 1.00
R9764:Cnot1 UTSW 8 95,769,581 (GRCm38) missense probably benign 0.00
R9789:Cnot1 UTSW 8 95,729,144 (GRCm38) missense probably damaging 1.00
X0050:Cnot1 UTSW 8 95,743,098 (GRCm38) splice site probably null
Z1176:Cnot1 UTSW 8 95,748,277 (GRCm38) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- CTGCTTGACATGCTGATCTAAC -3'
(R):5'- TAGCTGGGCATTTTAGCAGG -3'

Sequencing Primer
(F):5'- CAAAGATCAGTTGTAACCAATGGC -3'
(R):5'- AGTTTGAGACCAGCCTGATC -3'
Posted On 2014-09-17