Incidental Mutation 'R2357:Nol8'
ID 247458
Institutional Source Beutler Lab
Gene Symbol Nol8
Ensembl Gene ENSMUSG00000021392
Gene Name nucleolar protein 8
Synonyms D13Ertd548e, 4921532D18Rik, 5730412B09Rik
MMRRC Submission 040339-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2357 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 49806554-49832492 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 49807980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021824] [ENSMUST00000021824] [ENSMUST00000221083] [ENSMUST00000221142] [ENSMUST00000222197] [ENSMUST00000222333] [ENSMUST00000223467] [ENSMUST00000223264]
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 probably null
Transcript: ENSMUST00000021824
SMART Domains Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392

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 null
Transcript: ENSMUST00000021824
SMART Domains Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392

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 null
Transcript: ENSMUST00000221083
Predicted Effect probably null
Transcript: ENSMUST00000221142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221751
Predicted Effect probably null
Transcript: ENSMUST00000222197
Predicted Effect probably null
Transcript: ENSMUST00000222333
Predicted Effect probably null
Transcript: ENSMUST00000223467
Predicted Effect probably null
Transcript: ENSMUST00000223264
Meta Mutation Damage Score 0.9499 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 97% (66/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,569,844 (GRCm39) T520K possibly damaging Het
Abca13 T C 11: 9,247,336 (GRCm39) L2361P probably damaging Het
Acsl6 T A 11: 54,218,106 (GRCm39) M248K probably damaging Het
Adam11 G T 11: 102,665,334 (GRCm39) V467L probably benign Het
Afap1 C T 5: 36,141,618 (GRCm39) H501Y probably damaging Het
Ankrd28 A T 14: 31,486,251 (GRCm39) Y22* probably null Het
Ccdc124 A T 8: 71,321,179 (GRCm39) L187Q probably damaging Het
Cdc42bpa G A 1: 179,894,792 (GRCm39) S324N possibly damaging Het
Cgnl1 T A 9: 71,632,950 (GRCm39) K134* probably null Het
Cnpy3 G T 17: 47,062,909 (GRCm39) S47R probably damaging Het
Cpne8 A T 15: 90,503,877 (GRCm39) L96Q probably damaging Het
Crisp3 A T 17: 40,533,396 (GRCm39) Y212N probably damaging Het
Cryba1 A T 11: 77,613,427 (GRCm39) probably benign Het
Cyc1 A G 15: 76,229,766 (GRCm39) M288V possibly damaging Het
Dnah8 T A 17: 30,990,846 (GRCm39) D3296E probably benign Het
Dnah8 A G 17: 31,093,909 (GRCm39) T4668A probably benign Het
Dnajb6 T A 5: 29,958,638 (GRCm39) F113I probably damaging Het
Dync2h1 A G 9: 7,081,053 (GRCm39) I2881T probably benign Het
Eps8l1 T C 7: 4,473,354 (GRCm39) S179P probably benign Het
Esco2 C A 14: 66,064,000 (GRCm39) A395S probably benign Het
Evi5l T C 8: 4,243,113 (GRCm39) probably benign Het
Exoc6b T C 6: 84,966,321 (GRCm39) T218A possibly damaging Het
Gde1 A T 7: 118,290,814 (GRCm39) F170L probably benign Het
Ggt5 A C 10: 75,445,075 (GRCm39) I361L probably benign Het
Golga3 C T 5: 110,350,514 (GRCm39) T683M probably damaging Het
Golgb1 A G 16: 36,732,370 (GRCm39) Q539R probably damaging Het
Grm2 A G 9: 106,524,780 (GRCm39) V645A probably damaging Het
Gtf2h4 A T 17: 35,978,891 (GRCm39) V408D probably damaging Het
Gucy1a2 A T 9: 3,797,299 (GRCm39) H583L probably damaging Het
Hivep2 C T 10: 14,019,043 (GRCm39) A1938V probably benign Het
Iars1 T C 13: 49,841,679 (GRCm39) Y56H probably damaging Het
Il17re A G 6: 113,445,431 (GRCm39) I381V possibly damaging Het
Klrd1 T A 6: 129,573,872 (GRCm39) *71K probably null Het
Kng1 A T 16: 22,897,815 (GRCm39) Y405F possibly damaging Het
Kptn G T 7: 15,859,709 (GRCm39) C311F probably damaging Het
Lama5 T C 2: 179,821,890 (GRCm39) I2982V probably benign Het
Mamstr G T 7: 45,291,754 (GRCm39) D35Y probably damaging Het
Mdc1 A G 17: 36,158,337 (GRCm39) D239G probably benign Het
Mindy3 T G 2: 12,408,987 (GRCm39) probably benign Het
Mrpl39 A T 16: 84,524,452 (GRCm39) H204Q probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myo5a T A 9: 75,108,647 (GRCm39) M1476K probably damaging Het
Nol4 A G 18: 23,172,967 (GRCm39) S45P probably benign Het
Or4f61 A G 2: 111,922,743 (GRCm39) I101T possibly damaging Het
Or5d18 A T 2: 87,865,028 (GRCm39) W152R probably damaging Het
Or6c207 C A 10: 129,104,642 (GRCm39) K183N probably benign Het
Or8b56 T C 9: 38,739,634 (GRCm39) S216P probably benign Het
Plau T A 14: 20,888,683 (GRCm39) V100D probably damaging Het
Plpp7 T C 2: 31,999,654 (GRCm39) V6A probably benign Het
Prr14 T C 7: 127,074,535 (GRCm39) S356P probably benign Het
Rabl3 A G 16: 37,362,293 (GRCm39) D44G probably null Het
Rasa4 T C 5: 136,120,101 (GRCm39) V59A probably damaging Het
Rbm46 A T 3: 82,771,765 (GRCm39) D283E probably benign Het
Rictor A T 15: 6,813,043 (GRCm39) N932I probably damaging Het
Rpl9-ps6 A G 19: 32,443,743 (GRCm39) V70A probably benign Het
S100a7l2 A T 3: 90,995,733 (GRCm39) S56R probably benign Het
St3gal1 A G 15: 66,985,631 (GRCm39) Y8H probably benign Het
Strn G A 17: 78,963,028 (GRCm39) T745I probably damaging Het
Tbx15 C T 3: 99,223,672 (GRCm39) probably null Het
Tbx20 T A 9: 24,681,072 (GRCm39) D140V possibly damaging Het
Ttn A C 2: 76,666,923 (GRCm39) Y42* probably null Het
Usp9y G A Y: 1,394,050 (GRCm39) T560I possibly damaging Het
Vmn2r111 A G 17: 22,778,151 (GRCm39) probably benign Het
Vps13d GG GGGGGG 4: 144,801,547 (GRCm39) probably null Het
Wfdc12 A T 2: 164,032,170 (GRCm39) I40N probably damaging Het
Zfp78 G A 7: 6,382,056 (GRCm39) G369R 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
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
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'- TTGGCACAGAAGTTTCAGGGG -3'
(R):5'- TCCTGATTGTTAGTGACACTCTAC -3'

Sequencing Primer
(F):5'- CAGGGGAAAGAGTTGTGTTAAATTTC -3'
(R):5'- GTTGACTCCGAAAATTCAAAGTACAG -3'
Posted On 2014-11-11