Incidental Mutation 'R6872:Nol4l'
ID 536189
Institutional Source Beutler Lab
Gene Symbol Nol4l
Ensembl Gene ENSMUSG00000061411
Gene Name nucleolar protein 4-like
Synonyms 8430427H17Rik, LOC381396
MMRRC Submission 044969-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R6872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 153249381-153371869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153325737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 116 (E116G)
Ref Sequence ENSEMBL: ENSMUSP00000036571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035346]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035346
AA Change: E116G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036571
Gene: ENSMUSG00000061411
AA Change: E116G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Ap3d1 G A 10: 80,550,156 (GRCm39) R692* probably null Het
Aqp2 C T 15: 99,481,885 (GRCm39) H260Y probably benign Het
Btbd2 C A 10: 80,480,166 (GRCm39) R383L probably damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Col12a1 A T 9: 79,584,516 (GRCm39) N1357K probably damaging Het
Cpa5 A T 6: 30,614,053 (GRCm39) Q65L probably benign Het
Ddo A C 10: 40,513,414 (GRCm39) M119L possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Eng T A 2: 32,563,287 (GRCm39) I281N probably damaging Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Fubp1 A T 3: 151,931,783 (GRCm39) Q37L probably benign Het
Gabra2 G T 5: 71,251,882 (GRCm39) P22T probably damaging Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Gsdmc T C 15: 63,650,556 (GRCm39) D275G possibly damaging Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Lmod1 G T 1: 135,292,879 (GRCm39) R578L probably damaging Het
Mindy2 A G 9: 70,524,044 (GRCm39) probably null Het
Neb G T 2: 52,183,657 (GRCm39) Q1004K probably damaging Het
Nkx2-9 T G 12: 56,658,674 (GRCm39) N180T probably benign Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Or1af1 A T 2: 37,109,989 (GRCm39) M163L possibly damaging Het
Or5ac19 A G 16: 59,089,961 (GRCm39) L23P probably benign Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Rab44 A G 17: 29,358,784 (GRCm39) E324G probably benign Het
Ramp3 T C 11: 6,624,768 (GRCm39) C21R possibly damaging Het
Rpap1 A C 2: 119,605,850 (GRCm39) M345R probably damaging Het
Serpina3k A C 12: 104,310,519 (GRCm39) K350Q probably benign Het
St13 C T 15: 81,250,547 (GRCm39) probably null Het
Stard9 A T 2: 120,544,549 (GRCm39) K4497* probably null Het
Tbx19 A T 1: 164,975,202 (GRCm39) probably null Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Trim69 A G 2: 121,998,391 (GRCm39) E121G probably damaging Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zbtb7a A G 10: 80,983,905 (GRCm39) N449S possibly damaging Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp462 G A 4: 55,012,326 (GRCm39) A1431T probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign Het
Zfp706 T C 15: 37,002,190 (GRCm39) T46A possibly damaging 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
R6845:Nol4l UTSW 2 153,258,582 (GRCm39) missense probably benign 0.00
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'- TCTTTGTGCTCTGACCGCAG -3'
(R):5'- CAGATCCAGTGGGTTTCCTCTC -3'

Sequencing Primer
(F):5'- AAGGCCGCTTCATCACG -3'
(R):5'- AGTGGGTTTCCTCTCCTCCC -3'
Posted On 2018-10-18