Incidental Mutation 'R7035:Nol8'
ID 546629
Institutional Source Beutler Lab
Gene Symbol Nol8
Ensembl Gene ENSMUSG00000021392
Gene Name nucleolar protein 8
Synonyms D13Ertd548e, 4921532D18Rik, 5730412B09Rik
MMRRC Submission 045136-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7035 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 49806554-49832492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49814678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 262 (V262A)
Ref Sequence ENSEMBL: ENSMUSP00000152536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021824] [ENSMUST00000221083] [ENSMUST00000221142] [ENSMUST00000222197] [ENSMUST00000222333] [ENSMUST00000223264] [ENSMUST00000223467]
AlphaFold Q3UHX0
Predicted Effect probably benign
Transcript: ENSMUST00000021824
AA Change: V262A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: V262A

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
Predicted Effect probably benign
Transcript: ENSMUST00000221142
AA Change: V244A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000222197
AA Change: V262A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000222333
Predicted Effect probably benign
Transcript: ENSMUST00000223264
Predicted Effect probably benign
Transcript: ENSMUST00000223467
AA Change: V244A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T A 3: 68,777,272 (GRCm39) F78I probably benign Het
1700102P08Rik A T 9: 108,272,510 (GRCm39) D140V possibly damaging Het
6430548M08Rik A T 8: 120,879,225 (GRCm39) S208C probably damaging Het
Abcd4 G T 12: 84,662,123 (GRCm39) T41K probably damaging Het
Acaca C T 11: 84,129,769 (GRCm39) R375C probably damaging Het
Acad11 T A 9: 103,990,694 (GRCm39) V433D probably damaging Het
Adal T A 2: 120,985,942 (GRCm39) C226S probably benign Het
Aldh3b2 A T 19: 4,028,142 (GRCm39) M95L probably benign Het
Ano4 A G 10: 88,790,573 (GRCm39) F842S probably damaging Het
Ap5s1 T C 2: 131,054,732 (GRCm39) F181S probably damaging Het
Apba1 G A 19: 23,894,931 (GRCm39) D456N possibly damaging Het
Armh4 T A 14: 50,010,507 (GRCm39) H400L possibly damaging Het
Atp6v0a1 A C 11: 100,918,183 (GRCm39) Q199H probably damaging Het
Atp8a1 C G 5: 67,938,373 (GRCm39) G161A probably benign Het
Atxn2 C T 5: 121,949,530 (GRCm39) Q61* probably null Het
Cacna2d1 T A 5: 16,451,670 (GRCm39) I178K probably damaging Het
Catsperb A C 12: 101,381,593 (GRCm39) T92P probably damaging Het
Ccdc175 A G 12: 72,202,419 (GRCm39) I292T probably benign Het
Cep290 T A 10: 100,334,933 (GRCm39) S318T probably benign Het
Cfb T A 17: 35,079,007 (GRCm39) Y826F possibly damaging Het
Cntn1 C A 15: 92,212,392 (GRCm39) D851E probably benign Het
Coq6 A G 12: 84,415,415 (GRCm39) D146G probably damaging Het
Crem G A 18: 3,327,503 (GRCm39) T12I probably damaging Het
Dennd4c G A 4: 86,730,574 (GRCm39) V824I probably damaging Het
Dnase2b C T 3: 146,288,096 (GRCm39) C333Y probably damaging Het
Dop1a T A 9: 86,406,355 (GRCm39) F365I possibly damaging Het
Dysf A T 6: 84,163,374 (GRCm39) I1570F probably benign Het
Eml1 T A 12: 108,475,493 (GRCm39) C275S probably damaging Het
Fam135b A C 15: 71,334,102 (GRCm39) S1031A possibly damaging Het
Gga2 T C 7: 121,588,939 (GRCm39) D596G probably damaging Het
Gin1 A C 1: 97,720,100 (GRCm39) Y365S possibly damaging Het
Gipr T A 7: 18,896,809 (GRCm39) I154F probably damaging Het
Gm5478 A T 15: 101,553,632 (GRCm39) I284N possibly damaging Het
Gnat1 A T 9: 107,553,827 (GRCm39) probably benign Het
Gsdmc A T 15: 63,650,569 (GRCm39) probably null Het
Lama1 T A 17: 68,088,044 (GRCm39) I1554N Het
Mycbp2 T A 14: 103,412,417 (GRCm39) T2519S probably benign Het
Mylk G A 16: 34,797,352 (GRCm39) V1604M possibly damaging Het
Mypop C T 7: 18,725,922 (GRCm39) probably benign Het
Nol6 A T 4: 41,118,479 (GRCm39) V774E probably benign Het
Npepps A T 11: 97,113,965 (GRCm39) V637D probably damaging Het
Or1e16 T C 11: 73,286,544 (GRCm39) I101M probably benign Het
Or4f52 A G 2: 111,061,784 (GRCm39) M118T probably damaging Het
Or5p52 T C 7: 107,502,140 (GRCm39) V72A probably benign Het
Pcdhgb8 A T 18: 37,896,201 (GRCm39) I424F possibly damaging Het
Phf7 A C 14: 30,961,183 (GRCm39) W231G probably damaging Het
Plagl1 A G 10: 13,003,977 (GRCm39) probably benign Het
Plat A T 8: 23,262,327 (GRCm39) D117V probably benign Het
Prkag2 T C 5: 25,152,564 (GRCm39) Y180C probably damaging Het
Prpf8 T C 11: 75,395,654 (GRCm39) I1927T possibly damaging Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Rad17 T A 13: 100,764,133 (GRCm39) D446V possibly damaging Het
Ralgapa2 G T 2: 146,353,777 (GRCm39) Q15K probably damaging Het
Ret A G 6: 118,140,247 (GRCm39) Y982H probably damaging Het
Rnf145 T A 11: 44,452,583 (GRCm39) S521T probably damaging Het
Samd4 G A 14: 47,326,620 (GRCm39) silent Het
Sardh T C 2: 27,120,854 (GRCm39) D390G probably damaging Het
Saxo1 T C 4: 86,363,359 (GRCm39) T375A probably damaging Het
Scly A G 1: 91,236,125 (GRCm39) T126A probably damaging Het
Slc6a16 T A 7: 44,910,251 (GRCm39) V307D probably damaging Het
Sned1 T C 1: 93,189,852 (GRCm39) C320R probably damaging Het
Sspo G A 6: 48,426,147 (GRCm39) probably null Het
Sycp2l C T 13: 41,310,973 (GRCm39) T645I unknown Het
Tpmt T C 13: 47,193,584 (GRCm39) K72E probably damaging Het
Tsbp1 C T 17: 34,679,305 (GRCm39) probably benign Het
Ube2q2l G A 6: 136,378,347 (GRCm39) T161M possibly damaging Het
Vmn1r51 A T 6: 90,106,207 (GRCm39) H41L probably benign Het
Wdfy3 A T 5: 102,003,415 (GRCm39) I2900N probably damaging Het
Zfp663 A G 2: 165,195,023 (GRCm39) S399P probably benign Het
Zfp692 T C 11: 58,200,268 (GRCm39) probably null 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
R4927:Nol8 UTSW 13 49,807,901 (GRCm39) missense possibly damaging 0.79
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
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'- ACTCCCATAGCTGAACTCACTTG -3'
(R):5'- AATGCCCAGGTTTCTCTCTG -3'

Sequencing Primer
(F):5'- CATAGCTGAACTCACTTGGGAATTGG -3'
(R):5'- TCTTCCGAGTCAACATCATCATCAG -3'
Posted On 2019-05-13