Incidental Mutation 'R2517:Gnl3'
ID 253974
Institutional Source Beutler Lab
Gene Symbol Gnl3
Ensembl Gene ENSMUSG00000042354
Gene Name guanine nucleotide binding protein nucleolar 3
Synonyms NS, nucleostemin
MMRRC Submission 040421-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2517 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 30734390-30741088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30736120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 307 (S307P)
Ref Sequence ENSEMBL: ENSMUSP00000047119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000037739] [ENSMUST00000112095] [ENSMUST00000112098] [ENSMUST00000146325] [ENSMUST00000226740] [ENSMUST00000112106] [ENSMUST00000168584] [ENSMUST00000227467] [ENSMUST00000228341]
AlphaFold Q8CI11
Predicted Effect probably benign
Transcript: ENSMUST00000022476
SMART Domains Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_transf_8 67 340 1.7e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000037739
AA Change: S307P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047119
Gene: ENSMUSG00000042354
AA Change: S307P

DomainStartEndE-ValueType
Pfam:GN3L_Grn1 16 90 4.3e-25 PFAM
low complexity region 112 126 N/A INTRINSIC
SCOP:d1egaa1 130 207 3e-3 SMART
low complexity region 209 220 N/A INTRINSIC
Pfam:MMR_HSR1 251 362 2.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104609
Predicted Effect probably benign
Transcript: ENSMUST00000112095
SMART Domains Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323

DomainStartEndE-ValueType
BROMO 43 153 4.97e-35 SMART
BROMO 175 289 5.84e-41 SMART
low complexity region 354 370 N/A INTRINSIC
BROMO 379 489 1.57e-32 SMART
BROMO 516 627 6.07e-39 SMART
BROMO 651 765 3.01e-43 SMART
BROMO 775 881 2.53e-18 SMART
coiled coil region 907 934 N/A INTRINSIC
BAH 956 1074 1.33e-45 SMART
low complexity region 1083 1097 N/A INTRINSIC
BAH 1156 1272 3.02e-35 SMART
low complexity region 1318 1338 N/A INTRINSIC
HMG 1378 1448 2.87e-13 SMART
low complexity region 1457 1482 N/A INTRINSIC
low complexity region 1501 1529 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112098
SMART Domains Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323

DomainStartEndE-ValueType
BROMO 43 153 4.97e-35 SMART
BROMO 175 289 5.84e-41 SMART
low complexity region 354 370 N/A INTRINSIC
BROMO 379 489 1.57e-32 SMART
BROMO 531 642 6.07e-39 SMART
BROMO 666 780 3.01e-43 SMART
BROMO 790 896 2.53e-18 SMART
coiled coil region 922 949 N/A INTRINSIC
BAH 971 1089 1.33e-45 SMART
low complexity region 1098 1112 N/A INTRINSIC
BAH 1171 1287 3.02e-35 SMART
low complexity region 1333 1353 N/A INTRINSIC
HMG 1393 1463 1.62e-21 SMART
low complexity region 1479 1490 N/A INTRINSIC
low complexity region 1500 1515 N/A INTRINSIC
low complexity region 1527 1552 N/A INTRINSIC
low complexity region 1571 1599 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226271
Predicted Effect probably benign
Transcript: ENSMUST00000146325
SMART Domains Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323

DomainStartEndE-ValueType
BROMO 64 174 4.97e-35 SMART
BROMO 196 310 5.84e-41 SMART
low complexity region 343 359 N/A INTRINSIC
BROMO 368 478 1.57e-32 SMART
BROMO 505 616 6.07e-39 SMART
BROMO 640 754 3.01e-43 SMART
BROMO 764 870 2.53e-18 SMART
coiled coil region 896 923 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226220
Predicted Effect probably benign
Transcript: ENSMUST00000226740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226348
Predicted Effect probably benign
Transcript: ENSMUST00000112106
SMART Domains Protein: ENSMUSP00000107734
Gene: ENSMUSG00000042323

DomainStartEndE-ValueType
Blast:BROMO 61 91 6e-16 BLAST
PDB:3IU5|A 61 91 6e-17 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000168584
SMART Domains Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_transf_8 67 340 8.6e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226379
Predicted Effect probably benign
Transcript: ENSMUST00000227467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227869
Predicted Effect probably benign
Transcript: ENSMUST00000228341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227783
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 C A 14: 56,019,403 (GRCm39) E82D probably damaging Het
Ago1 G A 4: 126,333,732 (GRCm39) R486* probably null Het
Ago2 T A 15: 72,996,091 (GRCm39) N346I possibly damaging Het
Apol11a A T 15: 77,401,395 (GRCm39) D294V probably benign Het
Atp13a5 A G 16: 29,116,215 (GRCm39) F634L possibly damaging Het
Atp2a2 G A 5: 122,595,576 (GRCm39) P953L probably damaging Het
Brca2 A G 5: 150,463,137 (GRCm39) D967G probably benign Het
Bud13 A T 9: 46,199,446 (GRCm39) H269L probably benign Het
Cachd1 A T 4: 100,838,079 (GRCm39) probably null Het
Cog3 T C 14: 75,979,182 (GRCm39) D188G probably benign Het
Col15a1 T C 4: 47,208,492 (GRCm39) S20P probably damaging Het
Col4a3 A G 1: 82,658,431 (GRCm39) D838G unknown Het
Cwh43 A T 5: 73,578,886 (GRCm39) T298S probably benign Het
Dip2c A G 13: 9,659,041 (GRCm39) R847G probably damaging Het
Dnah2 C T 11: 69,407,470 (GRCm39) D438N probably damaging Het
Drg2 T C 11: 60,358,954 (GRCm39) V358A probably damaging Het
Eif4enif1 T A 11: 3,171,168 (GRCm39) W220R probably damaging Het
Enpp2 A T 15: 54,783,090 (GRCm39) I75K probably damaging Het
Fam110c T C 12: 31,125,238 (GRCm39) I400T probably damaging Het
Fam193b C A 13: 55,690,629 (GRCm39) R711L probably damaging Het
Fgfr1 T C 8: 26,053,462 (GRCm39) Y246H probably damaging Het
Frs3 G A 17: 48,013,997 (GRCm39) R230Q probably benign Het
Galnt5 A G 2: 57,889,425 (GRCm39) K342E probably benign Het
Glrb A T 3: 80,769,054 (GRCm39) L189Q probably damaging Het
Gmeb2 T C 2: 180,900,819 (GRCm39) T193A probably benign Het
Golim4 A T 3: 75,800,166 (GRCm39) F443I probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Klf10 A C 15: 38,297,357 (GRCm39) Y228D probably benign Het
Klrc3 A T 6: 129,616,520 (GRCm39) W166R probably damaging Het
Kng2 A T 16: 22,807,065 (GRCm39) I378N probably benign Het
Map3k10 T C 7: 27,362,688 (GRCm39) K466R possibly damaging Het
Mrrf C T 2: 36,079,109 (GRCm39) T245M probably benign Het
Msi1 A G 5: 115,583,517 (GRCm39) Y239C probably damaging Het
Nfasc A G 1: 132,525,501 (GRCm39) probably null Het
Or1x6 T A 11: 50,939,300 (GRCm39) L122Q probably damaging Het
Or7g25 A T 9: 19,160,357 (GRCm39) C113S probably benign Het
P3r3urf A G 4: 116,030,791 (GRCm39) D65G probably benign Het
Pkd1l1 T C 11: 8,908,900 (GRCm39) E368G unknown Het
Polq G A 16: 36,909,687 (GRCm39) G2078D probably damaging Het
Ppfibp1 A C 6: 146,893,942 (GRCm39) I134L probably damaging Het
Rasip1 A T 7: 45,284,247 (GRCm39) I608F probably damaging Het
Ripk3 A T 14: 56,025,492 (GRCm39) V24E probably damaging Het
Rtkn T A 6: 83,124,526 (GRCm39) I110N probably damaging Het
Scn1a C T 2: 66,104,176 (GRCm39) V1695I probably damaging Het
Shank2 A G 7: 143,606,042 (GRCm39) N75S possibly damaging Het
Snu13 C A 15: 81,928,182 (GRCm39) A14S probably benign Het
Snx27 A C 3: 94,438,541 (GRCm39) D231E probably damaging Het
Spef2 A G 15: 9,725,283 (GRCm39) I158T possibly damaging Het
Sptb A G 12: 76,696,643 (GRCm39) I19T possibly damaging Het
Ssu72 T C 4: 155,817,970 (GRCm39) L175P probably damaging Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tecr C T 8: 84,299,204 (GRCm39) V248I probably benign Het
Tnfrsf13b T G 11: 61,032,302 (GRCm39) S59A probably benign Het
Tom1l1 T C 11: 90,561,951 (GRCm39) T150A possibly damaging Het
Ubr3 A T 2: 69,766,362 (GRCm39) Y410F probably damaging Het
Vmn2r108 A G 17: 20,692,577 (GRCm39) I93T probably damaging Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Vstm4 T A 14: 32,585,664 (GRCm39) M77K probably benign Het
Zbtb17 C T 4: 141,191,896 (GRCm39) T309I probably damaging Het
Zfp957 T C 14: 79,451,494 (GRCm39) T102A probably damaging Het
Other mutations in Gnl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Gnl3 APN 14 30,736,146 (GRCm39) missense possibly damaging 0.71
IGL00826:Gnl3 APN 14 30,734,753 (GRCm39) unclassified probably benign
IGL02323:Gnl3 APN 14 30,739,359 (GRCm39) missense probably damaging 1.00
R0277:Gnl3 UTSW 14 30,735,384 (GRCm39) critical splice donor site probably null
R0636:Gnl3 UTSW 14 30,739,110 (GRCm39) missense probably damaging 1.00
R0727:Gnl3 UTSW 14 30,739,034 (GRCm39) missense probably damaging 0.99
R1459:Gnl3 UTSW 14 30,739,803 (GRCm39) missense probably damaging 1.00
R1474:Gnl3 UTSW 14 30,738,418 (GRCm39) splice site probably benign
R2016:Gnl3 UTSW 14 30,738,326 (GRCm39) splice site probably null
R2352:Gnl3 UTSW 14 30,738,783 (GRCm39) critical splice donor site probably null
R4115:Gnl3 UTSW 14 30,738,813 (GRCm39) missense probably damaging 1.00
R4697:Gnl3 UTSW 14 30,739,286 (GRCm39) missense probably damaging 0.98
R4853:Gnl3 UTSW 14 30,737,270 (GRCm39) missense probably damaging 0.99
R4973:Gnl3 UTSW 14 30,735,462 (GRCm39) missense possibly damaging 0.68
R5091:Gnl3 UTSW 14 30,738,803 (GRCm39) missense possibly damaging 0.76
R5580:Gnl3 UTSW 14 30,737,242 (GRCm39) missense probably benign
R5914:Gnl3 UTSW 14 30,738,853 (GRCm39) missense possibly damaging 0.85
R6898:Gnl3 UTSW 14 30,735,136 (GRCm39) missense probably benign 0.01
R7292:Gnl3 UTSW 14 30,735,189 (GRCm39) missense probably benign
R7372:Gnl3 UTSW 14 30,738,843 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGCAGAGAATCCTTATACTCAGGG -3'
(R):5'- CTGACTTAACTGCTGTGCTGAG -3'

Sequencing Primer
(F):5'- TGTGAAGGTCCAGAGTTCAAATCCC -3'
(R):5'- TGTCCTCAGATGGACAGT -3'
Posted On 2014-12-04