Incidental Mutation 'R5597:Cnot6l'
ID 437869
Institutional Source Beutler Lab
Gene Symbol Cnot6l
Ensembl Gene ENSMUSG00000034724
Gene Name CCR4-NOT transcription complex, subunit 6-like
Synonyms 4932442K20Rik
MMRRC Submission 043149-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.549) question?
Stock # R5597 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 96218192-96312030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96278978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 80 (D80G)
Ref Sequence ENSEMBL: ENSMUSP00000119415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036646] [ENSMUST00000113005] [ENSMUST00000122003] [ENSMUST00000129646] [ENSMUST00000137207] [ENSMUST00000141383] [ENSMUST00000155901] [ENSMUST00000154500]
AlphaFold Q8VEG6
Predicted Effect probably benign
Transcript: ENSMUST00000036646
Predicted Effect probably damaging
Transcript: ENSMUST00000113005
AA Change: D85G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: D85G

DomainStartEndE-ValueType
LRR 55 77 4.34e-1 SMART
LRR 78 100 1.01e-1 SMART
LRR 101 124 7.55e-1 SMART
Pfam:Exo_endo_phos 192 529 7.3e-22 PFAM
low complexity region 532 545 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122003
AA Change: D80G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: D80G

DomainStartEndE-ValueType
LRR 50 72 4.34e-1 SMART
LRR 73 95 1.01e-1 SMART
LRR 96 119 7.55e-1 SMART
Pfam:Exo_endo_phos 187 433 1.3e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129646
AA Change: D80G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123653
Gene: ENSMUSG00000034724
AA Change: D80G

DomainStartEndE-ValueType
LRR 50 72 4.34e-1 SMART
LRR 73 95 1.01e-1 SMART
LRR 96 119 7.55e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137066
Predicted Effect probably benign
Transcript: ENSMUST00000137207
AA Change: D80G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121627
Gene: ENSMUSG00000034724
AA Change: D80G

DomainStartEndE-ValueType
LRR_TYP 50 73 6.67e-2 SMART
Pfam:LRR_1 75 87 6.9e-2 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141383
AA Change: D80G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114436
Gene: ENSMUSG00000034724
AA Change: D80G

DomainStartEndE-ValueType
LRR 50 72 4.34e-1 SMART
LRR_TYP 73 96 1.58e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155901
AA Change: D80G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: D80G

DomainStartEndE-ValueType
LRR 50 72 4.34e-1 SMART
LRR 73 95 1.01e-1 SMART
LRR 96 119 7.55e-1 SMART
Pfam:Exo_endo_phos 187 524 2.2e-23 PFAM
low complexity region 527 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154500
Meta Mutation Damage Score 0.6592 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,927,363 (GRCm39) T1330I probably damaging Het
Aebp1 T C 11: 5,816,487 (GRCm39) V322A probably benign Het
Anks3 T A 16: 4,771,793 (GRCm39) H77L possibly damaging Het
Bsn A T 9: 107,992,131 (GRCm39) M1207K probably benign Het
Btla A G 16: 45,064,599 (GRCm39) T183A probably benign Het
Cdca8 G A 4: 124,812,793 (GRCm39) R286W probably damaging Het
Col16a1 A G 4: 129,952,097 (GRCm39) D93G probably damaging Het
Ctsk T C 3: 95,409,007 (GRCm39) V130A probably damaging Het
Cul9 T C 17: 46,813,591 (GRCm39) E2294G possibly damaging Het
Dcaf5 G T 12: 80,386,817 (GRCm39) S436R probably damaging Het
Dnah7a A T 1: 53,573,611 (GRCm39) L1792H probably benign Het
Dst T C 1: 34,231,794 (GRCm39) V3307A probably benign Het
Frrs1 C T 3: 116,671,887 (GRCm39) probably benign Het
Gimap4 T C 6: 48,667,698 (GRCm39) L151P probably damaging Het
Hook2 A G 8: 85,720,657 (GRCm39) N166S probably benign Het
Hp1bp3 A T 4: 137,948,939 (GRCm39) M1L possibly damaging Het
Igkv4-56 T A 6: 69,564,467 (GRCm39) noncoding transcript Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Lamc1 A G 1: 153,127,716 (GRCm39) C396R probably damaging Het
Lars2 A T 9: 123,284,047 (GRCm39) D745V probably damaging Het
Macf1 A T 4: 123,433,570 (GRCm39) probably benign Het
Mapk4 T A 18: 74,070,341 (GRCm39) Y184F probably benign Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Msh2 T C 17: 88,030,789 (GRCm39) S889P probably benign Het
Nebl A G 2: 17,382,978 (GRCm39) S100P probably benign Het
Nudt7 A T 8: 114,878,506 (GRCm39) H154L probably benign Het
Olig2 A T 16: 91,023,768 (GRCm39) M161L probably benign Het
Or2ah1 T C 2: 85,653,804 (GRCm39) L163P probably damaging Het
Or5h24 A T 16: 58,918,710 (GRCm39) V215D unknown Het
Or6c214 T C 10: 129,590,755 (GRCm39) D188G probably damaging Het
Palmd T A 3: 116,717,225 (GRCm39) D424V probably damaging Het
Pdzk1ip1 A G 4: 114,950,689 (GRCm39) N164D probably damaging Het
Prkag1 A G 15: 98,713,789 (GRCm39) S14P probably damaging Het
Prss12 C T 3: 123,258,389 (GRCm39) P161L probably benign Het
Pwwp2a T C 11: 43,573,422 (GRCm39) V168A probably benign Het
Rassf7 A G 7: 140,797,024 (GRCm39) D79G probably damaging Het
Rgs3 A T 4: 62,542,082 (GRCm39) I19F probably damaging Het
Slc30a10 C A 1: 185,194,897 (GRCm39) H236Q probably damaging Het
Slco3a1 C A 7: 73,934,210 (GRCm39) R654L probably benign Het
Smad4 A C 18: 73,795,898 (GRCm39) F165L probably benign Het
Swsap1 G T 9: 21,867,242 (GRCm39) R62M probably damaging Het
Tenm4 T A 7: 96,202,724 (GRCm39) M113K probably benign Het
Tmem225 A G 9: 40,060,726 (GRCm39) N95S possibly damaging Het
Tnni3k A T 3: 154,577,765 (GRCm39) L658H probably damaging Het
Trem2 G A 17: 48,658,840 (GRCm39) V202I probably benign Het
Tyw1 C T 5: 130,303,498 (GRCm39) L289F probably benign Het
Vcam1 T A 3: 115,919,651 (GRCm39) D205V probably damaging Het
Vmn2r-ps158 A G 7: 42,674,073 (GRCm39) D377G probably benign Het
Yy1 A G 12: 108,781,436 (GRCm39) D367G probably damaging Het
Zfp11 A T 5: 129,734,166 (GRCm39) C432S probably benign Het
Other mutations in Cnot6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Cnot6l APN 5 96,234,105 (GRCm39) missense probably damaging 1.00
IGL02102:Cnot6l APN 5 96,239,518 (GRCm39) missense probably damaging 0.98
BB005:Cnot6l UTSW 5 96,278,927 (GRCm39) missense possibly damaging 0.95
BB015:Cnot6l UTSW 5 96,278,927 (GRCm39) missense possibly damaging 0.95
R0443:Cnot6l UTSW 5 96,239,604 (GRCm39) splice site probably benign
R0448:Cnot6l UTSW 5 96,227,905 (GRCm39) missense probably benign 0.00
R1436:Cnot6l UTSW 5 96,281,971 (GRCm39) missense probably damaging 1.00
R2198:Cnot6l UTSW 5 96,227,800 (GRCm39) missense possibly damaging 0.79
R4240:Cnot6l UTSW 5 96,225,221 (GRCm39) missense probably benign
R4506:Cnot6l UTSW 5 96,234,033 (GRCm39) missense possibly damaging 0.93
R4624:Cnot6l UTSW 5 96,225,070 (GRCm39) missense probably benign 0.05
R4627:Cnot6l UTSW 5 96,225,070 (GRCm39) missense probably benign 0.05
R4629:Cnot6l UTSW 5 96,225,070 (GRCm39) missense probably benign 0.05
R4868:Cnot6l UTSW 5 96,230,882 (GRCm39) missense probably damaging 1.00
R4936:Cnot6l UTSW 5 96,227,796 (GRCm39) missense probably damaging 1.00
R5781:Cnot6l UTSW 5 96,234,024 (GRCm39) missense probably benign 0.31
R6142:Cnot6l UTSW 5 96,230,837 (GRCm39) missense probably benign 0.00
R6166:Cnot6l UTSW 5 96,227,799 (GRCm39) missense possibly damaging 0.79
R6189:Cnot6l UTSW 5 96,246,136 (GRCm39) missense probably benign 0.18
R6382:Cnot6l UTSW 5 96,276,858 (GRCm39) missense probably damaging 0.99
R6515:Cnot6l UTSW 5 96,309,537 (GRCm39) intron probably benign
R6773:Cnot6l UTSW 5 96,242,158 (GRCm39) missense probably damaging 1.00
R7326:Cnot6l UTSW 5 96,225,158 (GRCm39) missense probably benign 0.00
R7466:Cnot6l UTSW 5 96,278,987 (GRCm39) missense probably benign 0.01
R7832:Cnot6l UTSW 5 96,242,084 (GRCm39) missense possibly damaging 0.90
R7928:Cnot6l UTSW 5 96,278,927 (GRCm39) missense possibly damaging 0.95
R8310:Cnot6l UTSW 5 96,239,535 (GRCm39) missense probably benign
R8499:Cnot6l UTSW 5 96,225,176 (GRCm39) missense probably damaging 1.00
R8698:Cnot6l UTSW 5 96,225,149 (GRCm39) missense probably damaging 1.00
R9029:Cnot6l UTSW 5 96,246,136 (GRCm39) missense probably benign 0.18
R9100:Cnot6l UTSW 5 96,230,875 (GRCm39) missense probably damaging 1.00
R9377:Cnot6l UTSW 5 96,276,826 (GRCm39) missense probably benign 0.01
R9485:Cnot6l UTSW 5 96,230,858 (GRCm39) missense probably damaging 0.99
R9685:Cnot6l UTSW 5 96,230,749 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATATTAAATGGCGGCCAACTCATG -3'
(R):5'- CAGTACTTGGGATTCCGATTTTGTC -3'

Sequencing Primer
(F):5'- AACTCATGCACTGTGCTTAAC -3'
(R):5'- CGATTTTGTCGTGGATCTGGAG -3'
Posted On 2016-10-26