Incidental Mutation 'R9100:Cnot6l'
ID 691609
Institutional Source Beutler Lab
Gene Symbol Cnot6l
Ensembl Gene ENSMUSG00000034724
Gene Name CCR4-NOT transcription complex, subunit 6-like
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R9100 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 96070333-96164171 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96083016 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 364 (D364G)
Ref Sequence ENSEMBL: ENSMUSP00000119415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036646] [ENSMUST00000113005] [ENSMUST00000122003] [ENSMUST00000155901]
AlphaFold Q8VEG6
Predicted Effect probably benign
Transcript: ENSMUST00000036646
Predicted Effect probably damaging
Transcript: ENSMUST00000113005
AA Change: D369G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: D369G

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: D364G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: D364G

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: ENSMUST00000155901
AA Change: D364G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: D364G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (75/78)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,200,067 T151A probably benign Het
4932438A13Rik A G 3: 37,044,758 K1256R Het
Abcc4 A G 14: 118,616,388 V444A possibly damaging Het
Add1 T A 5: 34,613,278 probably benign Het
Adgrg3 A G 8: 95,036,263 probably benign Het
Adgrl3 A C 5: 81,694,452 Q809P possibly damaging Het
Ankmy2 T C 12: 36,186,807 C205R probably damaging Het
Atp6v1b2 A G 8: 69,088,824 N11S Het
B3gnt6 T A 7: 98,194,751 M1L not run Het
Ccdc88b T C 19: 6,855,845 E278G probably damaging Het
Cdca8 T C 4: 124,936,445 T45A probably benign Het
Ces2b C A 8: 104,831,589 probably benign Het
Clip4 G A 17: 71,810,889 G310R probably damaging Het
Cmklr1 G C 5: 113,613,982 H319Q probably benign Het
Cnot3 A G 7: 3,658,193 D567G probably benign Het
Cpped1 A G 16: 11,828,555 V111A Het
Cyp11b2 T C 15: 74,851,146 K468E probably damaging Het
Dpp4 T G 2: 62,374,389 T245P possibly damaging Het
Fat2 A G 11: 55,262,521 W3622R probably damaging Het
Fat4 A C 3: 39,010,654 K4920Q Het
Frmpd2 A G 14: 33,530,450 I656M probably benign Het
Gck A G 11: 5,906,516 Y214H probably damaging Het
Gde1 C T 7: 118,695,082 R166H probably benign Het
Gdf7 A T 12: 8,298,652 F215Y unknown Het
Gdpgp1 A G 7: 80,238,534 I104M probably benign Het
Gldc A G 19: 30,099,914 S953P possibly damaging Het
Gm13089 T G 4: 143,699,157 N72T probably benign Het
Gm5483 T A 16: 36,187,915 M57K possibly damaging Het
Golga3 C T 5: 110,189,678 H411Y probably benign Het
Gpn1 G T 5: 31,498,396 R101I probably damaging Het
Itgb5 T A 16: 33,920,181 S554T possibly damaging Het
Klhl1 G A 14: 96,346,928 L289F probably damaging Het
Klhl13 C T X: 23,247,494 R95Q probably benign Het
Kmt2d G C 15: 98,849,951 T3164R unknown Het
Knl1 T C 2: 119,068,988 V390A probably benign Het
Krtap5-2 GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA GCCACAGCCCCCACAGGAACTACA 7: 142,175,099 probably benign Het
Lamtor4 G A 5: 138,256,333 probably benign Het
Lonrf1 AGGCGGCGGCGGCGG AGGCGGCGGCGG 8: 36,248,765 probably benign Het
Ltbp1 C T 17: 75,315,107 L829F probably benign Het
Ltbp1 T A 17: 75,315,108 L829H probably damaging Het
Mrgpra1 C T 7: 47,334,984 E316K probably damaging Het
Muc16 T A 9: 18,645,670 H3109L unknown Het
Nck1 T C 9: 100,495,508 E368G probably damaging Het
Nox4 G A 7: 87,376,240 R525Q probably benign Het
Nus1 A T 10: 52,429,191 probably null Het
Nxph2 T C 2: 23,399,768 V44A probably benign Het
Olfr1029 A G 2: 85,975,752 K170E probably benign Het
Olfr1161 T C 2: 88,024,986 I88T probably benign Het
Olfr1277 A G 2: 111,269,749 L206P probably benign Het
Olfr1305 A G 2: 111,873,261 M198T possibly damaging Het
Olfr1427 G T 19: 12,098,890 H250N probably benign Het
Olfr213 A T 6: 116,541,029 N192I possibly damaging Het
Olfr390 A G 11: 73,787,861 K308E probably benign Het
Otof T C 5: 30,382,352 D1039G possibly damaging Het
Parpbp T A 10: 88,133,107 Q159L possibly damaging Het
Per2 A T 1: 91,423,742 L1014Q possibly damaging Het
Pik3ap1 C G 19: 41,324,485 silent Het
Pik3ca A G 3: 32,460,019 N885D probably damaging Het
Pip5k1c T C 10: 81,309,222 V299A probably benign Het
Polr3h A T 15: 81,922,516 probably benign Het
Pramef6 T A 4: 143,897,076 N176I probably benign Het
Pus3 C A 9: 35,565,650 Q248K probably benign Het
Sectm1a T A 11: 121,069,743 Q82L possibly damaging Het
Sema3e A G 5: 14,232,194 Y448C probably damaging Het
Slc12a4 A T 8: 105,949,142 S584T probably benign Het
Slc25a40 T C 5: 8,449,613 F249L probably benign Het
St3gal6 T A 16: 58,486,430 N79I Het
Stxbp4 A T 11: 90,535,494 I496K possibly damaging Het
Sulf1 A G 1: 12,807,894 Y202C probably damaging Het
Swt1 A G 1: 151,423,505 probably null Het
Tdrd6 T C 17: 43,625,414 Y1581C possibly damaging Het
Tenm4 G C 7: 96,845,854 G1163A probably damaging Het
Tlr4 A G 4: 66,840,281 E437G probably benign Het
Txnrd2 A T 16: 18,437,565 H101L probably damaging Het
Uba3 A T 6: 97,186,710 V306E probably damaging Het
Unc5b T C 10: 60,768,373 Q814R probably damaging Het
Vamp5 T G 6: 72,370,321 E5A possibly damaging Het
Vmn1r69 T A 7: 10,580,137 R222S probably damaging Het
Zfp507 G A 7: 35,795,021 T199I probably benign Het
Zfyve19 T G 2: 119,211,237 L95R probably benign Het
Other mutations in Cnot6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Cnot6l APN 5 96086246 missense probably damaging 1.00
IGL02102:Cnot6l APN 5 96091659 missense probably damaging 0.98
BB005:Cnot6l UTSW 5 96131068 missense possibly damaging 0.95
BB015:Cnot6l UTSW 5 96131068 missense possibly damaging 0.95
R0443:Cnot6l UTSW 5 96091745 splice site probably benign
R0448:Cnot6l UTSW 5 96080046 missense probably benign 0.00
R1436:Cnot6l UTSW 5 96134112 missense probably damaging 1.00
R2198:Cnot6l UTSW 5 96079941 missense possibly damaging 0.79
R4240:Cnot6l UTSW 5 96077362 missense probably benign
R4506:Cnot6l UTSW 5 96086174 missense possibly damaging 0.93
R4624:Cnot6l UTSW 5 96077211 missense probably benign 0.05
R4627:Cnot6l UTSW 5 96077211 missense probably benign 0.05
R4629:Cnot6l UTSW 5 96077211 missense probably benign 0.05
R4868:Cnot6l UTSW 5 96083023 missense probably damaging 1.00
R4936:Cnot6l UTSW 5 96079937 missense probably damaging 1.00
R5597:Cnot6l UTSW 5 96131119 missense probably damaging 1.00
R5781:Cnot6l UTSW 5 96086165 missense probably benign 0.31
R6142:Cnot6l UTSW 5 96082978 missense probably benign 0.00
R6166:Cnot6l UTSW 5 96079940 missense possibly damaging 0.79
R6189:Cnot6l UTSW 5 96098277 missense probably benign 0.18
R6382:Cnot6l UTSW 5 96128999 missense probably damaging 0.99
R6515:Cnot6l UTSW 5 96161678 intron probably benign
R6773:Cnot6l UTSW 5 96094299 missense probably damaging 1.00
R7326:Cnot6l UTSW 5 96077299 missense probably benign 0.00
R7466:Cnot6l UTSW 5 96131128 missense probably benign 0.01
R7832:Cnot6l UTSW 5 96094225 missense possibly damaging 0.90
R7928:Cnot6l UTSW 5 96131068 missense possibly damaging 0.95
R8310:Cnot6l UTSW 5 96091676 missense probably benign
R8499:Cnot6l UTSW 5 96077317 missense probably damaging 1.00
R8698:Cnot6l UTSW 5 96077290 missense probably damaging 1.00
R9029:Cnot6l UTSW 5 96098277 missense probably benign 0.18
R9377:Cnot6l UTSW 5 96128967 missense probably benign 0.01
R9485:Cnot6l UTSW 5 96082999 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAGGAGCTGGATGGTCTTCC -3'
(R):5'- AGGATTACCCTTTAGCTTCTCAG -3'

Sequencing Primer
(F):5'- TCAAGACTAAATGTGAAACTGAAAGC -3'
(R):5'- ACCCTTTAGCTTCTCAGATAAGTTTG -3'
Posted On 2021-12-30