Incidental Mutation 'R1640:Cnot1'
ID 173472
Institutional Source Beutler Lab
Gene Symbol Cnot1
Ensembl Gene ENSMUSG00000036550
Gene Name CCR4-NOT transcription complex, subunit 1
Synonyms 6030411K04Rik
MMRRC Submission 039676-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1640 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 96446079-96534092 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96496460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 282 (V282D)
Ref Sequence ENSEMBL: ENSMUSP00000096073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068452] [ENSMUST00000098473] [ENSMUST00000211887] [ENSMUST00000212323] [ENSMUST00000213006] [ENSMUST00000213046]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000068452
AA Change: V282D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063565
Gene: ENSMUSG00000036550
AA Change: V282D

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 damaging
Transcript: ENSMUST00000098473
AA Change: V282D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096073
Gene: ENSMUSG00000036550
AA Change: V282D

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 probably damaging
Transcript: ENSMUST00000211887
AA Change: V280D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212228
Predicted Effect probably benign
Transcript: ENSMUST00000212323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212556
Predicted Effect probably damaging
Transcript: ENSMUST00000213006
AA Change: V282D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000213046
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C A 8: 125,566,584 (GRCm39) V279L probably damaging Het
Acot6 A T 12: 84,147,900 (GRCm39) Y52F probably damaging Het
Adam22 C T 5: 8,195,689 (GRCm39) V284I probably damaging Het
Agl A T 3: 116,545,739 (GRCm39) H1352Q probably benign Het
Aldh18a1 G A 19: 40,573,943 (GRCm39) P27S probably benign Het
C1ra A G 6: 124,499,233 (GRCm39) N473S probably benign Het
C87436 T C 6: 86,423,233 (GRCm39) L269P probably damaging Het
Calcrl A G 2: 84,164,021 (GRCm39) V390A probably damaging Het
Ccp110 T G 7: 118,314,751 (GRCm39) probably null Het
Cerk A G 15: 86,033,601 (GRCm39) V274A probably damaging Het
Chd1l A T 3: 97,488,307 (GRCm39) S570T probably benign Het
Chst14 T A 2: 118,757,379 (GRCm39) W83R probably damaging Het
Chsy1 A T 7: 65,821,262 (GRCm39) D499V probably benign Het
Ckmt1 C A 2: 121,190,198 (GRCm39) probably null Het
Cntn3 A T 6: 102,218,974 (GRCm39) S549T possibly damaging Het
Cntnap5c A T 17: 58,702,289 (GRCm39) D1203V probably benign Het
Col4a4 A G 1: 82,513,491 (GRCm39) Y169H unknown Het
Cwc22 A G 2: 77,745,874 (GRCm39) F454S possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dhrs7 A T 12: 72,699,089 (GRCm39) W298R possibly damaging Het
Dock7 G T 4: 98,833,483 (GRCm39) T1906N probably damaging Het
Dpy19l3 T C 7: 35,449,203 (GRCm39) T67A probably benign Het
Drc1 A G 5: 30,521,301 (GRCm39) D654G possibly damaging Het
Ech1 A T 7: 28,531,264 (GRCm39) H284L probably damaging Het
Epc1 G A 18: 6,441,175 (GRCm39) Q8* probably null Het
Etv5 A T 16: 22,254,664 (GRCm39) D65E probably damaging Het
F2rl3 A G 8: 73,489,534 (GRCm39) R254G probably benign Het
Fabp5 T G 3: 10,080,170 (GRCm39) F73L probably benign Het
Fbrs T C 7: 127,086,483 (GRCm39) I611T probably damaging Het
Flnc T C 6: 29,433,806 (GRCm39) S117P possibly damaging Het
Frmd4b A C 6: 97,285,634 (GRCm39) S291A possibly damaging Het
Galnt13 A G 2: 54,950,558 (GRCm39) Y413C probably damaging Het
Gfer A G 17: 24,914,337 (GRCm39) Y109H possibly damaging Het
Gli2 T C 1: 118,764,254 (GRCm39) H1299R possibly damaging Het
Gm10110 T C 14: 90,135,679 (GRCm39) noncoding transcript Het
Gprc5a T G 6: 135,055,652 (GRCm39) L33W probably damaging Het
Grin3a T C 4: 49,844,721 (GRCm39) T121A probably benign Het
Grk3 A G 5: 113,163,248 (GRCm39) V33A probably benign Het
Hc A T 2: 34,947,336 (GRCm39) Y59* probably null Het
Hrnr A G 3: 93,239,823 (GRCm39) I3354V unknown Het
Hyou1 C G 9: 44,300,703 (GRCm39) T924S probably benign Het
Ifi209 T G 1: 173,464,931 (GRCm39) H20Q probably damaging Het
Ifi44 A G 3: 151,438,171 (GRCm39) V372A probably benign Het
Igdcc4 T A 9: 65,030,077 (GRCm39) L328H probably damaging Het
Jkampl A G 6: 73,445,869 (GRCm39) Y227H probably benign Het
Kif18a A G 2: 109,120,161 (GRCm39) T155A probably benign Het
Kmt2d A G 15: 98,742,938 (GRCm39) probably benign Het
Kri1 T C 9: 21,191,753 (GRCm39) D281G possibly damaging Het
Larp1b T A 3: 40,988,507 (GRCm39) M1K probably null Het
Loxhd1 A G 18: 77,490,259 (GRCm39) D1225G probably damaging Het
Mzf1 A G 7: 12,777,197 (GRCm39) *736Q probably null Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ncf2 T A 1: 152,683,784 (GRCm39) M1K probably null Het
Or5t15 T A 2: 86,681,571 (GRCm39) H157L probably benign Het
Or8h10 A C 2: 86,808,963 (GRCm39) M59R probably damaging Het
Parp12 T C 6: 39,073,574 (GRCm39) D417G probably benign Het
Parp12 T C 6: 39,088,612 (GRCm39) H208R probably damaging Het
Pcif1 T C 2: 164,727,603 (GRCm39) I132T probably benign Het
Pck2 A G 14: 55,786,041 (GRCm39) D610G possibly damaging Het
Plbd1 T C 6: 136,617,123 (GRCm39) K185E probably benign Het
Ppp2r5a T C 1: 191,086,126 (GRCm39) M425V probably damaging Het
Rapgef6 T A 11: 54,548,231 (GRCm39) V805D probably damaging Het
Rprd2 C T 3: 95,671,059 (GRCm39) probably benign Het
Ryr3 A G 2: 112,731,178 (GRCm39) S711P probably damaging Het
Slc17a3 T A 13: 24,036,340 (GRCm39) L212* probably null Het
Slc4a8 A G 15: 100,681,668 (GRCm39) D41G probably benign Het
Slc9a3 T A 13: 74,306,937 (GRCm39) V354E probably damaging Het
Spen A G 4: 141,196,254 (GRCm39) I3632T probably damaging Het
Tesc A G 5: 118,192,914 (GRCm39) S77G probably benign Het
Tet3 A T 6: 83,346,297 (GRCm39) V1245D probably benign Het
Tox4 T A 14: 52,530,000 (GRCm39) D553E possibly damaging Het
Tpmt A T 13: 47,180,759 (GRCm39) Y193* probably null Het
Trio T C 15: 27,833,130 (GRCm39) Y1169C probably damaging Het
Urb1 G A 16: 90,569,514 (GRCm39) T1404I probably benign Het
Usp47 T C 7: 111,682,334 (GRCm39) S540P probably damaging Het
Vmn1r178 A T 7: 23,593,548 (GRCm39) M126L possibly damaging Het
Vmn1r223 T C 13: 23,434,348 (GRCm39) F314S probably damaging Het
Vmn2r112 A T 17: 22,824,097 (GRCm39) I451L probably benign Het
Zfc3h1 A G 10: 115,242,806 (GRCm39) probably null Het
Zfp503 A T 14: 22,034,969 (GRCm39) L649Q probably damaging Het
Zfp977 A C 7: 42,229,530 (GRCm39) C332G probably damaging Het
Other mutations in Cnot1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cnot1 APN 8 96,452,707 (GRCm39) missense probably damaging 1.00
IGL01340:Cnot1 APN 8 96,487,165 (GRCm39) missense probably damaging 1.00
IGL01457:Cnot1 APN 8 96,467,637 (GRCm39) missense probably damaging 1.00
IGL01505:Cnot1 APN 8 96,455,346 (GRCm39) missense probably damaging 0.98
IGL02401:Cnot1 APN 8 96,482,761 (GRCm39) missense possibly damaging 0.95
IGL02693:Cnot1 APN 8 96,500,113 (GRCm39) missense probably damaging 1.00
IGL02696:Cnot1 APN 8 96,471,645 (GRCm39) missense probably benign 0.00
IGL02754:Cnot1 APN 8 96,481,706 (GRCm39) missense probably benign 0.03
IGL03092:Cnot1 APN 8 96,496,243 (GRCm39) intron probably benign
IGL03174:Cnot1 APN 8 96,487,983 (GRCm39) missense probably damaging 1.00
IGL03310:Cnot1 APN 8 96,462,308 (GRCm39) splice site probably benign
IGL03371:Cnot1 APN 8 96,501,344 (GRCm39) missense possibly damaging 0.85
Affiliate UTSW 8 96,491,753 (GRCm39) missense probably damaging 0.99
Barge UTSW 8 96,460,757 (GRCm39) missense probably benign 0.13
Byproduct UTSW 8 96,472,275 (GRCm39) frame shift probably null
Chairman UTSW 8 96,491,655 (GRCm39) missense possibly damaging 0.95
cohort UTSW 8 96,462,377 (GRCm39) missense probably damaging 0.99
Director UTSW 8 96,491,690 (GRCm39) missense probably benign 0.15
kowloon UTSW 8 96,515,286 (GRCm39) missense probably damaging 1.00
Quorum UTSW 8 96,452,746 (GRCm39) missense probably damaging 1.00
tugboat UTSW 8 96,500,246 (GRCm39) missense probably damaging 0.99
Xiao UTSW 8 96,457,048 (GRCm39) missense probably damaging 1.00
BB001:Cnot1 UTSW 8 96,472,275 (GRCm39) frame shift probably null
BB003:Cnot1 UTSW 8 96,472,275 (GRCm39) frame shift probably null
BB011:Cnot1 UTSW 8 96,472,275 (GRCm39) frame shift probably null
BB013:Cnot1 UTSW 8 96,472,275 (GRCm39) frame shift probably null
R0008:Cnot1 UTSW 8 96,487,969 (GRCm39) missense probably damaging 1.00
R0008:Cnot1 UTSW 8 96,487,969 (GRCm39) missense probably damaging 1.00
R0091:Cnot1 UTSW 8 96,489,772 (GRCm39) missense probably damaging 1.00
R0335:Cnot1 UTSW 8 96,498,628 (GRCm39) missense probably benign 0.02
R0409:Cnot1 UTSW 8 96,475,483 (GRCm39) missense probably damaging 0.96
R0445:Cnot1 UTSW 8 96,486,836 (GRCm39) missense probably damaging 1.00
R1505:Cnot1 UTSW 8 96,455,295 (GRCm39) missense probably damaging 1.00
R1517:Cnot1 UTSW 8 96,469,841 (GRCm39) missense probably benign 0.38
R1737:Cnot1 UTSW 8 96,474,904 (GRCm39) missense probably damaging 0.98
R1755:Cnot1 UTSW 8 96,451,205 (GRCm39) missense probably damaging 1.00
R1901:Cnot1 UTSW 8 96,469,749 (GRCm39) missense possibly damaging 0.50
R1902:Cnot1 UTSW 8 96,469,749 (GRCm39) missense possibly damaging 0.50
R1903:Cnot1 UTSW 8 96,469,749 (GRCm39) missense possibly damaging 0.50
R1988:Cnot1 UTSW 8 96,468,572 (GRCm39) missense possibly damaging 0.89
R2051:Cnot1 UTSW 8 96,451,221 (GRCm39) missense possibly damaging 0.47
R2054:Cnot1 UTSW 8 96,466,469 (GRCm39) missense possibly damaging 0.55
R2072:Cnot1 UTSW 8 96,466,461 (GRCm39) missense possibly damaging 0.89
R2074:Cnot1 UTSW 8 96,466,461 (GRCm39) missense possibly damaging 0.89
R2075:Cnot1 UTSW 8 96,466,461 (GRCm39) missense possibly damaging 0.89
R2093:Cnot1 UTSW 8 96,501,986 (GRCm39) missense probably damaging 1.00
R2116:Cnot1 UTSW 8 96,452,781 (GRCm39) missense probably damaging 1.00
R2191:Cnot1 UTSW 8 96,488,054 (GRCm39) missense probably damaging 0.98
R2238:Cnot1 UTSW 8 96,496,149 (GRCm39) missense probably benign 0.04
R2239:Cnot1 UTSW 8 96,496,149 (GRCm39) missense probably benign 0.04
R2251:Cnot1 UTSW 8 96,489,814 (GRCm39) missense probably benign 0.00
R2252:Cnot1 UTSW 8 96,489,814 (GRCm39) missense probably benign 0.00
R2253:Cnot1 UTSW 8 96,489,814 (GRCm39) missense probably benign 0.00
R2315:Cnot1 UTSW 8 96,475,690 (GRCm39) missense probably damaging 1.00
R2431:Cnot1 UTSW 8 96,501,280 (GRCm39) missense probably damaging 1.00
R2988:Cnot1 UTSW 8 96,470,906 (GRCm39) missense possibly damaging 0.80
R2989:Cnot1 UTSW 8 96,470,906 (GRCm39) missense possibly damaging 0.80
R3108:Cnot1 UTSW 8 96,462,377 (GRCm39) missense probably damaging 0.99
R3109:Cnot1 UTSW 8 96,462,377 (GRCm39) missense probably damaging 0.99
R3114:Cnot1 UTSW 8 96,470,906 (GRCm39) missense possibly damaging 0.80
R3115:Cnot1 UTSW 8 96,470,906 (GRCm39) missense possibly damaging 0.80
R3153:Cnot1 UTSW 8 96,470,906 (GRCm39) missense possibly damaging 0.80
R3154:Cnot1 UTSW 8 96,470,906 (GRCm39) missense possibly damaging 0.80
R4112:Cnot1 UTSW 8 96,500,246 (GRCm39) missense probably damaging 0.99
R4359:Cnot1 UTSW 8 96,466,476 (GRCm39) missense probably damaging 1.00
R4382:Cnot1 UTSW 8 96,496,407 (GRCm39) missense probably damaging 0.97
R4747:Cnot1 UTSW 8 96,501,310 (GRCm39) missense probably benign 0.27
R4910:Cnot1 UTSW 8 96,459,859 (GRCm39) missense probably benign 0.43
R4913:Cnot1 UTSW 8 96,489,695 (GRCm39) missense possibly damaging 0.63
R4971:Cnot1 UTSW 8 96,448,254 (GRCm39) missense probably damaging 1.00
R5056:Cnot1 UTSW 8 96,467,636 (GRCm39) missense probably damaging 1.00
R5092:Cnot1 UTSW 8 96,479,396 (GRCm39) missense possibly damaging 0.91
R5101:Cnot1 UTSW 8 96,486,815 (GRCm39) missense possibly damaging 0.90
R5498:Cnot1 UTSW 8 96,483,983 (GRCm39) missense possibly damaging 0.92
R5719:Cnot1 UTSW 8 96,470,924 (GRCm39) missense possibly damaging 0.92
R5850:Cnot1 UTSW 8 96,460,775 (GRCm39) nonsense probably null
R5956:Cnot1 UTSW 8 96,481,606 (GRCm39) critical splice donor site probably null
R5981:Cnot1 UTSW 8 96,515,293 (GRCm39) missense probably damaging 1.00
R6093:Cnot1 UTSW 8 96,475,522 (GRCm39) missense probably benign 0.03
R6108:Cnot1 UTSW 8 96,457,048 (GRCm39) missense probably damaging 1.00
R6261:Cnot1 UTSW 8 96,468,549 (GRCm39) missense probably benign 0.00
R6632:Cnot1 UTSW 8 96,499,895 (GRCm39) intron probably benign
R6882:Cnot1 UTSW 8 96,447,054 (GRCm39) missense possibly damaging 0.85
R6966:Cnot1 UTSW 8 96,451,160 (GRCm39) missense probably damaging 1.00
R6985:Cnot1 UTSW 8 96,460,757 (GRCm39) missense probably benign 0.13
R7210:Cnot1 UTSW 8 96,515,286 (GRCm39) missense probably damaging 1.00
R7410:Cnot1 UTSW 8 96,459,787 (GRCm39) missense possibly damaging 0.77
R7623:Cnot1 UTSW 8 96,454,276 (GRCm39) missense probably damaging 1.00
R7624:Cnot1 UTSW 8 96,478,447 (GRCm39) missense probably damaging 1.00
R7695:Cnot1 UTSW 8 96,497,260 (GRCm39) missense probably benign 0.03
R7703:Cnot1 UTSW 8 96,486,726 (GRCm39) critical splice donor site probably null
R7771:Cnot1 UTSW 8 96,491,753 (GRCm39) missense probably damaging 0.99
R7800:Cnot1 UTSW 8 96,491,690 (GRCm39) missense probably benign 0.15
R7809:Cnot1 UTSW 8 96,478,406 (GRCm39) missense probably damaging 1.00
R7857:Cnot1 UTSW 8 96,472,275 (GRCm39) frame shift probably null
R7914:Cnot1 UTSW 8 96,472,275 (GRCm39) frame shift probably null
R7924:Cnot1 UTSW 8 96,472,275 (GRCm39) frame shift probably null
R7926:Cnot1 UTSW 8 96,472,275 (GRCm39) frame shift probably null
R7981:Cnot1 UTSW 8 96,489,797 (GRCm39) missense probably damaging 1.00
R8004:Cnot1 UTSW 8 96,479,380 (GRCm39) missense probably benign 0.03
R8061:Cnot1 UTSW 8 96,491,655 (GRCm39) missense possibly damaging 0.95
R8185:Cnot1 UTSW 8 96,487,979 (GRCm39) missense probably damaging 1.00
R8269:Cnot1 UTSW 8 96,478,389 (GRCm39) missense probably damaging 1.00
R8306:Cnot1 UTSW 8 96,473,649 (GRCm39) missense probably benign 0.05
R8322:Cnot1 UTSW 8 96,496,472 (GRCm39) missense probably benign 0.00
R8427:Cnot1 UTSW 8 96,460,952 (GRCm39) missense probably benign 0.01
R8723:Cnot1 UTSW 8 96,462,907 (GRCm39) missense probably benign 0.00
R8934:Cnot1 UTSW 8 96,491,695 (GRCm39) missense probably benign 0.04
R9025:Cnot1 UTSW 8 96,475,660 (GRCm39) missense probably benign
R9179:Cnot1 UTSW 8 96,500,054 (GRCm39) missense probably benign 0.16
R9280:Cnot1 UTSW 8 96,497,227 (GRCm39) missense probably benign 0.15
R9285:Cnot1 UTSW 8 96,452,746 (GRCm39) missense probably damaging 1.00
R9299:Cnot1 UTSW 8 96,468,448 (GRCm39) missense probably damaging 1.00
R9337:Cnot1 UTSW 8 96,468,448 (GRCm39) missense probably damaging 1.00
R9480:Cnot1 UTSW 8 96,497,338 (GRCm39) missense possibly damaging 0.94
R9548:Cnot1 UTSW 8 96,482,854 (GRCm39) missense probably benign 0.02
R9601:Cnot1 UTSW 8 96,482,835 (GRCm39) missense probably benign 0.02
R9629:Cnot1 UTSW 8 96,455,874 (GRCm39) missense probably damaging 0.98
R9752:Cnot1 UTSW 8 96,488,019 (GRCm39) missense probably damaging 1.00
R9764:Cnot1 UTSW 8 96,496,209 (GRCm39) missense probably benign 0.00
R9789:Cnot1 UTSW 8 96,455,772 (GRCm39) missense probably damaging 1.00
X0050:Cnot1 UTSW 8 96,469,726 (GRCm39) splice site probably null
Z1176:Cnot1 UTSW 8 96,474,905 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TGACGACAACTACTCACCAGCTCT -3'
(R):5'- TGCTTATGTGTATGCTCCAGTGCG -3'

Sequencing Primer
(F):5'- AGATCCCACTGCCAGGAG -3'
(R):5'- caccagaagagggtgtcag -3'
Posted On 2014-04-24