Incidental Mutation 'R5988:Nol8'
ID 481855
Institutional Source Beutler Lab
Gene Symbol Nol8
Ensembl Gene ENSMUSG00000021392
Gene Name nucleolar protein 8
Synonyms D13Ertd548e, 4921532D18Rik, 5730412B09Rik
MMRRC Submission 044168-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5988 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 49806554-49832492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49826090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 970 (M970K)
Ref Sequence ENSEMBL: ENSMUSP00000152878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021824] [ENSMUST00000221142] [ENSMUST00000222197] [ENSMUST00000223467]
AlphaFold Q3UHX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021824
AA Change: M988K

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: M988K

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 possibly damaging
Transcript: ENSMUST00000221142
AA Change: M970K

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221328
Predicted Effect possibly damaging
Transcript: ENSMUST00000222197
AA Change: M988K

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223346
Predicted Effect possibly damaging
Transcript: ENSMUST00000223467
AA Change: M970K

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 95.3%
  • 20x: 84.3%
Validation Efficiency
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T A 14: 29,715,030 (GRCm39) M615K possibly damaging Het
Acvr1c A T 2: 58,205,886 (GRCm39) C25S probably damaging Het
Adk A T 14: 21,473,616 (GRCm39) E291V probably benign Het
Ahnak C A 19: 8,986,711 (GRCm39) probably benign Het
Alg11 A G 8: 22,552,044 (GRCm39) T63A probably benign Het
Alox12 A T 11: 70,142,413 (GRCm39) S272T probably benign Het
Armc10 T A 5: 21,865,581 (GRCm39) S195T probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Baat G A 4: 49,502,871 (GRCm39) P84S probably damaging Het
BB014433 G A 8: 15,091,854 (GRCm39) T333I probably damaging Het
BC035947 G A 1: 78,475,843 (GRCm39) R230* probably null Het
Bcr G A 10: 75,011,167 (GRCm39) G26E probably benign Het
Ccdc88b T C 19: 6,833,348 (GRCm39) E233G probably damaging Het
Cep295 A G 9: 15,252,770 (GRCm39) F353L probably damaging Het
Chd8 T C 14: 52,455,395 (GRCm39) M1031V probably damaging Het
Col17a1 C G 19: 47,642,659 (GRCm39) G885R probably damaging Het
Cyp11a1 A C 9: 57,928,117 (GRCm39) I214L probably benign Het
Cyp3a44 A T 5: 145,731,728 (GRCm39) S139R probably damaging Het
Ddhd2 G A 8: 26,238,589 (GRCm39) R64C probably damaging Het
Dll3 A G 7: 27,993,537 (GRCm39) W561R probably damaging Het
Dnajc3 T C 14: 119,195,376 (GRCm39) V97A possibly damaging Het
Drosha C T 15: 12,834,582 (GRCm39) probably benign Het
E2f8 T C 7: 48,524,743 (GRCm39) D302G probably damaging Het
Ecd C G 14: 20,374,629 (GRCm39) D504H probably damaging Het
Eif1ad15 T A 12: 88,288,202 (GRCm39) N17I unknown Het
Eif4g2 C A 7: 110,676,437 (GRCm39) V331L probably benign Het
Fam124a T C 14: 62,824,986 (GRCm39) I160T possibly damaging Het
Fat1 A G 8: 45,482,493 (GRCm39) T3051A probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm572 A G 4: 148,752,964 (GRCm39) E281G possibly damaging Het
Gm9944 T C 4: 144,179,775 (GRCm39) probably benign Het
Gstm5 A C 3: 107,803,270 (GRCm39) M1L probably benign Het
Havcr1 A G 11: 46,646,964 (GRCm39) T133A probably damaging Het
Hey1 T G 3: 8,731,379 (GRCm39) S68R probably damaging Het
Hsf2bp C T 17: 32,230,149 (GRCm39) probably null Het
Id2 T C 12: 25,145,723 (GRCm39) N96S probably benign Het
Ifi206 A C 1: 173,308,906 (GRCm39) S363R possibly damaging Het
Il21r T C 7: 125,231,460 (GRCm39) F296S probably damaging Het
Irgm2 A G 11: 58,111,013 (GRCm39) T247A probably benign Het
Irx5 T A 8: 93,087,299 (GRCm39) Y410* probably null Het
Kmt2c A G 5: 25,516,118 (GRCm39) I2575T probably benign Het
Lmbrd2 T A 15: 9,182,493 (GRCm39) probably null Het
Lrig1 A C 6: 94,605,023 (GRCm39) S191A probably damaging Het
Lrrc37 T C 11: 103,506,722 (GRCm39) probably benign Het
Lypd6b T A 2: 49,836,178 (GRCm39) C120S probably damaging Het
Mpdz A G 4: 81,202,812 (GRCm39) probably null Het
Myh6 G T 14: 55,202,851 (GRCm39) R23S probably damaging Het
Nat8f6 C T 6: 85,786,040 (GRCm39) M36I probably benign Het
Nrxn2 T C 19: 6,542,901 (GRCm39) F1042L possibly damaging Het
Nup160 T C 2: 90,519,553 (GRCm39) W277R probably damaging Het
Ogfr A T 2: 180,236,026 (GRCm39) T204S probably damaging Het
Or10j5 T A 1: 172,784,723 (GRCm39) Y120* probably null Het
Or1ak2 A G 2: 36,827,236 (GRCm39) Y35C probably damaging Het
Or1p1 T C 11: 74,179,679 (GRCm39) V69A probably benign Het
Or2n1d T C 17: 38,646,911 (GRCm39) F288L probably damaging Het
Or52n2b A T 7: 104,566,125 (GRCm39) V126E probably damaging Het
Or8c20 T C 9: 38,261,045 (GRCm39) V222A probably benign Het
Pcdh15 A G 10: 74,215,189 (GRCm39) I648V probably benign Het
Pced1b T A 15: 97,282,228 (GRCm39) V89E probably damaging Het
Phax G T 18: 56,708,564 (GRCm39) A43S probably benign Het
Phf20 A G 2: 156,149,250 (GRCm39) E976G probably damaging Het
Plin4 T C 17: 56,416,567 (GRCm39) T8A probably benign Het
Plxna1 G A 6: 89,334,522 (GRCm39) Q36* probably null Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Ppp1r26 T A 2: 28,342,566 (GRCm39) V732E probably benign Het
Pramel5 A T 4: 143,999,716 (GRCm39) C124S possibly damaging Het
Prorp T A 12: 55,424,002 (GRCm39) M441K probably damaging Het
Prr14l C A 5: 32,988,195 (GRCm39) L433F probably damaging Het
Ptpn14 A G 1: 189,582,584 (GRCm39) Y477C probably damaging Het
Rcl1 T A 19: 29,099,167 (GRCm39) I154N probably damaging Het
Rfpl4 T C 7: 5,118,501 (GRCm39) Y23C probably damaging Het
Rims1 T C 1: 22,635,544 (GRCm39) K146E probably damaging Het
Rims2 A T 15: 39,155,577 (GRCm39) K126M probably damaging Het
Rpusd4 T A 9: 35,183,816 (GRCm39) probably null Het
Scn7a C T 2: 66,556,558 (GRCm39) W342* probably null Het
Sh3pxd2a A G 19: 47,353,077 (GRCm39) V128A probably benign Het
Slc15a5 T C 6: 138,020,529 (GRCm39) H268R probably benign Het
Slc22a3 T C 17: 12,652,782 (GRCm39) I321V possibly damaging Het
Slc7a6os A G 8: 106,928,965 (GRCm39) S231P probably benign Het
Smad5 T C 13: 56,883,798 (GRCm39) S395P probably damaging Het
Sorbs3 G A 14: 70,440,752 (GRCm39) T20I probably benign Het
Spata9 A G 13: 76,116,236 (GRCm39) I42V probably benign Het
Srl C T 16: 4,340,892 (GRCm39) C9Y unknown Het
Sugp2 T C 8: 70,695,875 (GRCm39) F283L probably benign Het
Syne2 T C 12: 75,976,191 (GRCm39) probably null Het
Taar6 A G 10: 23,861,154 (GRCm39) Y131H probably damaging Het
Tango2 T C 16: 18,120,554 (GRCm39) T137A probably damaging Het
Tas2r106 T A 6: 131,655,606 (GRCm39) I82L probably benign Het
Tbc1d32 T C 10: 55,964,433 (GRCm39) E922G probably damaging Het
Tgfb2 G T 1: 186,436,778 (GRCm39) P65Q probably benign Het
Tjp2 T G 19: 24,091,464 (GRCm39) I566L probably benign Het
Tnrc6a T A 7: 122,781,603 (GRCm39) N1424K probably damaging Het
Trim7 A T 11: 48,728,513 (GRCm39) M54L probably benign Het
Trpm1 T A 7: 63,876,553 (GRCm39) S535R probably benign Het
Tsc2 T A 17: 24,839,740 (GRCm39) N417I probably damaging Het
Ttn T C 2: 76,800,132 (GRCm39) R359G probably benign Het
Vim A G 2: 13,587,296 (GRCm39) T458A probably benign Het
Vps11 A T 9: 44,265,221 (GRCm39) S612R probably benign Het
Wdfy3 A G 5: 102,032,004 (GRCm39) S2273P probably benign Het
Wwox G T 8: 115,433,081 (GRCm39) R249L probably benign Het
Zbtb4 G T 11: 69,669,790 (GRCm39) G838C probably damaging Het
Zkscan3 A T 13: 21,580,461 (GRCm39) C76S probably damaging Het
Znrf3 C T 11: 5,231,776 (GRCm39) C483Y probably damaging Het
Zscan2 A G 7: 80,525,947 (GRCm39) K556R possibly 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
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
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'- GCTCATGTGTAGTATTTGCATCTACC -3'
(R):5'- GAATGTAAAGCCAGTGGTTTGC -3'

Sequencing Primer
(F):5'- TGCATCTACCAGAGATAATGTGTG -3'
(R):5'- TTGCTCGGGCTCACATG -3'
Posted On 2017-06-26