Incidental Mutation 'R6845:Nol4l'
ID 534698
Institutional Source Beutler Lab
Gene Symbol Nol4l
Ensembl Gene ENSMUSG00000061411
Gene Name nucleolar protein 4-like
Synonyms 8430427H17Rik, LOC381396
MMRRC Submission 044951-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R6845 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 153249381-153371869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153258582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 602 (T602A)
Ref Sequence ENSEMBL: ENSMUSP00000036571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035346] [ENSMUST00000109784]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035346
AA Change: T602A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036571
Gene: ENSMUSG00000061411
AA Change: T602A

DomainStartEndE-ValueType
low complexity region 58 71 N/A INTRINSIC
low complexity region 277 305 N/A INTRINSIC
low complexity region 405 422 N/A INTRINSIC
low complexity region 619 639 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109784
AA Change: T358A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105407
Gene: ENSMUSG00000061411
AA Change: T358A

DomainStartEndE-ValueType
low complexity region 33 61 N/A INTRINSIC
SCOP:d1sig__ 161 246 1e-2 SMART
low complexity region 375 395 N/A INTRINSIC
Meta Mutation Damage Score 0.0694 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 95% (53/56)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 C A 3: 59,659,539 (GRCm39) P331T probably damaging Het
Adam6a T C 12: 113,507,717 (GRCm39) L30P possibly damaging Het
Cabin1 G A 10: 75,557,342 (GRCm39) R1099W probably damaging Het
Cdon C T 9: 35,398,252 (GRCm39) Q990* probably null Het
Cit T A 5: 116,122,947 (GRCm39) L1421Q probably damaging Het
Cplane1 T C 15: 8,251,388 (GRCm39) S1887P possibly damaging Het
Ddx27 T C 2: 166,864,016 (GRCm39) C242R probably damaging Het
Dlgap5 A T 14: 47,654,020 (GRCm39) V3E possibly damaging Het
Dnah6 A T 6: 73,110,525 (GRCm39) F1687I probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Duoxa1 A T 2: 122,135,672 (GRCm39) Y142* probably null Het
F3 A G 3: 121,526,124 (GRCm39) K229R probably benign Het
Fance A G 17: 28,536,565 (GRCm39) R42G probably damaging Het
Foxs1 T C 2: 152,774,619 (GRCm39) K145E probably benign Het
Gpd1l T C 9: 114,762,785 (GRCm39) M1V probably null Het
Gpr149 T A 3: 62,511,942 (GRCm39) H19L possibly damaging Het
Hmgcs1 T C 13: 120,162,674 (GRCm39) Y213H probably damaging Het
Htra1 C A 7: 130,538,021 (GRCm39) probably benign Het
Il20ra A G 10: 19,635,059 (GRCm39) I433M probably benign Het
Il3ra G C 14: 14,346,517 (GRCm38) probably null Het
Kif11 C T 19: 37,392,565 (GRCm39) L499F probably damaging Het
Kifc3 A G 8: 95,835,307 (GRCm39) M189T probably benign Het
Klk1b3 G A 7: 43,851,127 (GRCm39) A187T probably benign Het
Klre1 T C 6: 129,561,202 (GRCm39) S188P probably damaging Het
Krtap4-13 G A 11: 99,700,192 (GRCm39) probably benign Het
Lgi4 A T 7: 30,760,510 (GRCm39) T22S probably damaging Het
Lrp10 C T 14: 54,707,145 (GRCm39) R661C probably damaging Het
Lrrtm1 A G 6: 77,220,864 (GRCm39) D107G probably benign Het
Mad1l1 C A 5: 139,994,924 (GRCm39) A701S probably damaging Het
Mia2 T A 12: 59,231,064 (GRCm39) Y1237* probably null Het
Mpp4 T C 1: 59,183,963 (GRCm39) D278G probably benign Het
Myh6 G A 14: 55,182,206 (GRCm39) S1734L probably benign Het
Nbeal1 C T 1: 60,320,469 (GRCm39) R2021* probably null Het
Or5b109 T A 19: 13,211,997 (GRCm39) C128S probably damaging Het
Pcdh15 A T 10: 74,466,465 (GRCm39) H894L probably benign Het
Phldb1 A T 9: 44,627,359 (GRCm39) I362N probably damaging Het
Plcxd2 T A 16: 45,830,223 (GRCm39) probably benign Het
Ppp1r13l G T 7: 19,105,323 (GRCm39) R365L probably damaging Het
Pramel16 T C 4: 143,676,394 (GRCm39) T237A probably benign Het
Rfc1 A T 5: 65,468,459 (GRCm39) S85T possibly damaging Het
Rnf133 A G 6: 23,649,341 (GRCm39) V196A possibly damaging Het
Shank3 T C 15: 89,432,528 (GRCm39) V1016A probably benign Het
Slc22a21 T C 11: 53,870,466 (GRCm39) D73G probably benign Het
Slc34a2 T A 5: 53,226,511 (GRCm39) F545I probably damaging Het
Slc4a7 T A 14: 14,775,000 (GRCm38) M810K probably damaging Het
Ss18 A T 18: 14,788,221 (GRCm39) M83K possibly damaging Het
Tkfc T C 19: 10,576,696 (GRCm39) R94G probably damaging Het
Tpp2 T A 1: 44,017,668 (GRCm39) C757* probably null Het
Trav13n-4 T C 14: 53,599,856 (GRCm39) L11P probably damaging Het
Trpm4 T C 7: 44,971,753 (GRCm39) M138V possibly damaging Het
Utp18 G A 11: 93,776,582 (GRCm39) probably benign Het
Vps33a A G 5: 123,673,335 (GRCm39) V417A probably benign Het
Zfp207 C T 11: 80,286,317 (GRCm39) probably benign Het
Other mutations in Nol4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Nol4l APN 2 153,319,856 (GRCm39) missense probably damaging 0.96
IGL01325:Nol4l APN 2 153,278,271 (GRCm39) splice site probably benign
IGL02608:Nol4l APN 2 153,278,213 (GRCm39) missense possibly damaging 0.50
IGL02886:Nol4l APN 2 153,371,457 (GRCm39) missense probably benign 0.27
IGL03210:Nol4l APN 2 153,371,378 (GRCm39) missense probably benign 0.03
IGL03055:Nol4l UTSW 2 153,278,190 (GRCm39) synonymous silent
R0285:Nol4l UTSW 2 153,325,773 (GRCm39) splice site probably benign
R0345:Nol4l UTSW 2 153,253,672 (GRCm39) missense probably benign 0.00
R0555:Nol4l UTSW 2 153,259,604 (GRCm39) splice site probably null
R1966:Nol4l UTSW 2 153,371,375 (GRCm39) missense probably benign 0.01
R2044:Nol4l UTSW 2 153,371,441 (GRCm39) missense possibly damaging 0.66
R2368:Nol4l UTSW 2 153,259,959 (GRCm39) missense probably damaging 1.00
R4855:Nol4l UTSW 2 153,253,726 (GRCm39) missense probably benign 0.06
R5696:Nol4l UTSW 2 153,260,026 (GRCm39) missense probably damaging 0.99
R5776:Nol4l UTSW 2 153,259,741 (GRCm39) missense probably damaging 1.00
R6807:Nol4l UTSW 2 153,325,746 (GRCm39) nonsense probably null
R6872:Nol4l UTSW 2 153,325,737 (GRCm39) missense probably damaging 0.98
R6940:Nol4l UTSW 2 153,253,684 (GRCm39) missense probably benign 0.00
R8165:Nol4l UTSW 2 153,262,473 (GRCm39) nonsense probably null
R8263:Nol4l UTSW 2 153,259,337 (GRCm39) missense probably damaging 0.99
R8500:Nol4l UTSW 2 153,278,266 (GRCm39) missense probably damaging 0.99
R8938:Nol4l UTSW 2 153,262,651 (GRCm39) missense probably damaging 1.00
R9097:Nol4l UTSW 2 153,312,630 (GRCm39) missense probably damaging 0.96
R9098:Nol4l UTSW 2 153,312,630 (GRCm39) missense probably damaging 0.96
R9099:Nol4l UTSW 2 153,312,630 (GRCm39) missense probably damaging 0.96
R9115:Nol4l UTSW 2 153,253,638 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTAGAACAAGCTAGACACTGC -3'
(R):5'- TGGATAAGCAGCACTCTCGG -3'

Sequencing Primer
(F):5'- CAAGCTAGACACTGCTCTGG -3'
(R):5'- GATAAGCAGCACTCTCGGGACTC -3'
Posted On 2018-09-12