Incidental Mutation 'R4927:Nol8'
ID 380928
Institutional Source Beutler Lab
Gene Symbol Nol8
Ensembl Gene ENSMUSG00000021392
Gene Name nucleolar protein 8
Synonyms D13Ertd548e, 4921532D18Rik, 5730412B09Rik
MMRRC Submission 042528-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4927 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 49806554-49832492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49807901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 39 (E39G)
Ref Sequence ENSEMBL: ENSMUSP00000152324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021824] [ENSMUST00000221083] [ENSMUST00000221142] [ENSMUST00000222197] [ENSMUST00000223264] [ENSMUST00000223467] [ENSMUST00000222333]
AlphaFold Q3UHX0
Predicted Effect probably benign
Transcript: ENSMUST00000021818
SMART Domains Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

DomainStartEndE-ValueType
coiled coil region 1 34 N/A INTRINSIC
Pfam:CENP-P 102 278 3.9e-89 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000021824
AA Change: E39G

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: E39G

DomainStartEndE-ValueType
RRM 27 103 3.02e-9 SMART
low complexity region 315 327 N/A INTRINSIC
low complexity region 454 468 N/A INTRINSIC
low complexity region 712 724 N/A INTRINSIC
low complexity region 804 816 N/A INTRINSIC
low complexity region 836 849 N/A INTRINSIC
coiled coil region 886 916 N/A INTRINSIC
coiled coil region 955 981 N/A INTRINSIC
low complexity region 1080 1093 N/A INTRINSIC
low complexity region 1152 1164 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221083
AA Change: E21G

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000221142
AA Change: E21G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221751
Predicted Effect possibly damaging
Transcript: ENSMUST00000222197
AA Change: E39G

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000223264
AA Change: E21G

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223467
AA Change: E21G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222333
AA Change: E39G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1927 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (76/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adamts2 T A 11: 50,694,639 (GRCm39) L1142* probably null Het
Arl13b C A 16: 62,622,150 (GRCm39) G381V probably damaging Het
Ash1l G T 3: 88,892,641 (GRCm39) V1507F probably damaging Het
Babam2 T A 5: 31,859,408 (GRCm39) F38I probably benign Het
Bend4 T C 5: 67,557,619 (GRCm39) Y399C probably damaging Het
Btn1a1 A T 13: 23,644,794 (GRCm39) probably null Het
Cacna1g A T 11: 94,319,973 (GRCm39) L1401Q probably damaging Het
Ccdc192 C T 18: 57,863,888 (GRCm39) Q213* probably null Het
Cep192 T C 18: 67,968,195 (GRCm39) V893A probably benign Het
Cnot10 A T 9: 114,447,012 (GRCm39) Y355N probably damaging Het
Col6a5 G C 9: 105,811,163 (GRCm39) S785R unknown Het
Cpa3 A G 3: 20,276,303 (GRCm39) L310P probably damaging Het
Cux2 A G 5: 122,015,152 (GRCm39) I247T probably benign Het
Dab1 A G 4: 104,561,449 (GRCm39) T245A probably benign Het
Dmrta1 A T 4: 89,579,985 (GRCm39) D315V probably damaging Het
Dnah12 T A 14: 26,583,762 (GRCm39) L599* probably null Het
Dync1h1 T C 12: 110,629,289 (GRCm39) I4231T possibly damaging Het
Fat1 T C 8: 45,476,000 (GRCm39) V1659A probably damaging Het
Flot2 G A 11: 77,949,888 (GRCm39) V406M probably damaging Het
Galnt2 A G 8: 125,032,362 (GRCm39) D75G probably damaging Het
Gcnt3 A T 9: 69,942,464 (GRCm39) C35S probably damaging Het
Gp2 A G 7: 119,052,118 (GRCm39) F199L probably benign Het
Gramd2b C T 18: 56,618,523 (GRCm39) P244S probably damaging Het
Hhipl1 T C 12: 108,278,203 (GRCm39) L177P probably damaging Het
Homez T C 14: 55,095,264 (GRCm39) E148G possibly damaging Het
Kcnab3 G A 11: 69,217,572 (GRCm39) C22Y possibly damaging Het
Kcnh8 C A 17: 53,185,009 (GRCm39) S430R probably damaging Het
Kcnn2 T C 18: 45,692,798 (GRCm39) C125R probably benign Het
Klhl7 G A 5: 24,346,185 (GRCm39) R277Q possibly damaging Het
Krt78 A G 15: 101,855,334 (GRCm39) S826P probably benign Het
Krtap14 T C 16: 88,622,919 (GRCm39) Y20C possibly damaging Het
Lrcol1 A G 5: 110,502,163 (GRCm39) probably null Het
Lrrc10b G A 19: 10,434,226 (GRCm39) P152S probably damaging Het
Lrrn3 C G 12: 41,503,124 (GRCm39) D398H probably damaging Het
Map3k19 T C 1: 127,749,932 (GRCm39) I1140V probably benign Het
Mos G A 4: 3,871,093 (GRCm39) T241M probably damaging Het
Olfm1 T G 2: 28,104,798 (GRCm39) S212A probably benign Het
Or2ak6 T A 11: 58,592,633 (GRCm39) F35L probably damaging Het
Pip4p2 G T 4: 14,912,458 (GRCm39) R189L probably damaging Het
Plec G T 15: 76,061,162 (GRCm39) T2947K probably damaging Het
Pramel27 A T 4: 143,578,187 (GRCm39) Q149L probably damaging Het
Rasgrp3 A G 17: 75,823,350 (GRCm39) M474V probably benign Het
Ryr1 T C 7: 28,719,408 (GRCm39) Y4333C unknown Het
Scrn2 G C 11: 96,924,326 (GRCm39) probably null Het
Slc22a12 C A 19: 6,587,791 (GRCm39) V388L probably benign Het
Slc4a11 A G 2: 130,526,866 (GRCm39) V754A probably damaging Het
Slco2b1 A G 7: 99,335,195 (GRCm39) F195S probably damaging Het
Slfn9 A C 11: 82,872,216 (GRCm39) M840R possibly damaging Het
Speer4b T C 5: 27,706,263 (GRCm39) N35D probably damaging Het
Taf1d T A 9: 15,221,250 (GRCm39) D185E probably damaging Het
Taok2 A G 7: 126,475,213 (GRCm39) L245P probably damaging Het
Tent4a A T 13: 69,651,019 (GRCm39) probably null Het
Ticam2 T C 18: 46,693,846 (GRCm39) I80M probably damaging Het
Tmem268 G A 4: 63,502,164 (GRCm39) V331I probably benign Het
Tsga10 T C 1: 37,840,931 (GRCm39) E425G probably damaging Het
Ttc7 A G 17: 87,654,133 (GRCm39) probably null Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Unc13a T C 8: 72,107,489 (GRCm39) H601R probably damaging Het
Vmn2r102 A T 17: 19,880,661 (GRCm39) M1L probably benign Het
Vmn2r120 G T 17: 57,816,125 (GRCm39) N743K probably damaging Het
Wnt6 C A 1: 74,823,295 (GRCm39) probably null Het
Wnt6 A C 1: 74,823,296 (GRCm39) probably null Het
Wnt8a T A 18: 34,680,525 (GRCm39) C297S probably damaging Het
Zfp786 T C 6: 47,797,087 (GRCm39) Q617R probably benign Het
Zfp91 A G 19: 12,753,774 (GRCm39) probably null Het
Zw10 T A 9: 48,979,983 (GRCm39) F371L probably damaging Het
Other mutations in Nol8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Nol8 APN 13 49,815,704 (GRCm39) missense probably benign 0.01
IGL01106:Nol8 APN 13 49,807,957 (GRCm39) missense possibly damaging 0.46
IGL01413:Nol8 APN 13 49,813,428 (GRCm39) missense possibly damaging 0.82
IGL01540:Nol8 APN 13 49,815,146 (GRCm39) missense probably benign 0.06
IGL01670:Nol8 APN 13 49,814,784 (GRCm39) missense possibly damaging 0.54
IGL01672:Nol8 APN 13 49,828,883 (GRCm39) missense possibly damaging 0.95
IGL02032:Nol8 APN 13 49,826,248 (GRCm39) missense probably benign
IGL02212:Nol8 APN 13 49,815,626 (GRCm39) missense possibly damaging 0.87
IGL02323:Nol8 APN 13 49,808,721 (GRCm39) splice site probably benign
IGL02645:Nol8 APN 13 49,818,947 (GRCm39) critical splice donor site probably null
IGL02949:Nol8 APN 13 49,815,878 (GRCm39) missense probably benign 0.01
IGL02954:Nol8 APN 13 49,814,648 (GRCm39) missense probably benign 0.01
IGL03182:Nol8 APN 13 49,817,557 (GRCm39) missense probably damaging 1.00
IGL03406:Nol8 APN 13 49,815,044 (GRCm39) missense probably damaging 1.00
P0047:Nol8 UTSW 13 49,807,824 (GRCm39) splice site probably null
R0092:Nol8 UTSW 13 49,815,923 (GRCm39) missense possibly damaging 0.54
R0099:Nol8 UTSW 13 49,826,165 (GRCm39) missense probably benign
R0145:Nol8 UTSW 13 49,815,923 (GRCm39) missense possibly damaging 0.54
R0269:Nol8 UTSW 13 49,807,921 (GRCm39) missense possibly damaging 0.49
R0370:Nol8 UTSW 13 49,815,923 (GRCm39) missense possibly damaging 0.54
R0374:Nol8 UTSW 13 49,815,923 (GRCm39) missense possibly damaging 0.54
R0390:Nol8 UTSW 13 49,815,628 (GRCm39) missense probably damaging 1.00
R0617:Nol8 UTSW 13 49,807,921 (GRCm39) missense possibly damaging 0.49
R0635:Nol8 UTSW 13 49,830,234 (GRCm39) missense probably benign 0.05
R0637:Nol8 UTSW 13 49,815,923 (GRCm39) missense possibly damaging 0.54
R1246:Nol8 UTSW 13 49,830,245 (GRCm39) missense probably damaging 1.00
R1446:Nol8 UTSW 13 49,808,703 (GRCm39) missense probably damaging 1.00
R1464:Nol8 UTSW 13 49,830,264 (GRCm39) missense probably benign
R1464:Nol8 UTSW 13 49,830,264 (GRCm39) missense probably benign
R1627:Nol8 UTSW 13 49,814,980 (GRCm39) missense probably benign 0.01
R1703:Nol8 UTSW 13 49,820,933 (GRCm39) missense possibly damaging 0.65
R1751:Nol8 UTSW 13 49,820,884 (GRCm39) missense probably benign 0.06
R2187:Nol8 UTSW 13 49,815,475 (GRCm39) missense probably benign 0.00
R2357:Nol8 UTSW 13 49,807,980 (GRCm39) critical splice donor site probably null
R3081:Nol8 UTSW 13 49,831,868 (GRCm39) unclassified probably benign
R3969:Nol8 UTSW 13 49,813,492 (GRCm39) nonsense probably null
R4199:Nol8 UTSW 13 49,815,224 (GRCm39) missense possibly damaging 0.65
R4720:Nol8 UTSW 13 49,816,229 (GRCm39) missense probably damaging 1.00
R5177:Nol8 UTSW 13 49,814,588 (GRCm39) missense probably benign 0.32
R5512:Nol8 UTSW 13 49,830,263 (GRCm39) missense probably benign
R5744:Nol8 UTSW 13 49,815,802 (GRCm39) missense possibly damaging 0.82
R5988:Nol8 UTSW 13 49,826,090 (GRCm39) missense possibly damaging 0.58
R6048:Nol8 UTSW 13 49,807,160 (GRCm39) critical splice donor site probably null
R6306:Nol8 UTSW 13 49,829,829 (GRCm39) missense probably damaging 1.00
R6359:Nol8 UTSW 13 49,817,546 (GRCm39) missense probably benign 0.16
R6378:Nol8 UTSW 13 49,820,831 (GRCm39) missense probably damaging 1.00
R6655:Nol8 UTSW 13 49,807,868 (GRCm39) missense probably damaging 1.00
R7035:Nol8 UTSW 13 49,814,678 (GRCm39) missense probably benign 0.06
R7058:Nol8 UTSW 13 49,829,862 (GRCm39) missense probably damaging 1.00
R7368:Nol8 UTSW 13 49,814,695 (GRCm39) missense probably benign 0.00
R7450:Nol8 UTSW 13 49,813,491 (GRCm39) missense probably benign 0.01
R7673:Nol8 UTSW 13 49,818,256 (GRCm39) missense probably benign 0.15
R7750:Nol8 UTSW 13 49,815,742 (GRCm39) missense possibly damaging 0.83
R8246:Nol8 UTSW 13 49,808,724 (GRCm39) splice site probably benign
R9081:Nol8 UTSW 13 49,814,881 (GRCm39) missense probably benign 0.00
R9127:Nol8 UTSW 13 49,815,475 (GRCm39) missense probably benign 0.00
R9223:Nol8 UTSW 13 49,814,738 (GRCm39) missense possibly damaging 0.63
X0020:Nol8 UTSW 13 49,814,641 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGCCTTTGTAAAATCTCCAC -3'
(R):5'- TGTTTAGCGCTAACATTCAGC -3'

Sequencing Primer
(F):5'- TCTCCACTGATAAAATCTGAAAGC -3'
(R):5'- TAGCGCTAACATTCAGCTCTGGG -3'
Posted On 2016-04-15