Incidental Mutation 'R1474:Gnl3'
ID 163951
Institutional Source Beutler Lab
Gene Symbol Gnl3
Ensembl Gene ENSMUSG00000042354
Gene Name guanine nucleotide binding protein nucleolar 3
Synonyms NS, nucleostemin
MMRRC Submission 039527-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1474 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30734390-30741088 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 30738418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000037739] [ENSMUST00000052239] [ENSMUST00000112094] [ENSMUST00000112095] [ENSMUST00000146325] [ENSMUST00000168584] [ENSMUST00000144009] [ENSMUST00000112106] [ENSMUST00000112098] [ENSMUST00000226740] [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 benign
Transcript: ENSMUST00000037739
SMART Domains Protein: ENSMUSP00000047119
Gene: ENSMUSG00000042354

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 probably benign
Transcript: ENSMUST00000052239
SMART Domains Protein: ENSMUSP00000060476
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 1049 8.64e-22 SMART
low complexity region 1058 1072 N/A INTRINSIC
BAH 1131 1247 3.02e-35 SMART
low complexity region 1293 1310 N/A INTRINSIC
HMG 1326 1396 2.87e-13 SMART
low complexity region 1405 1430 N/A INTRINSIC
low complexity region 1449 1477 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104609
Predicted Effect probably benign
Transcript: ENSMUST00000112094
SMART Domains Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323

DomainStartEndE-ValueType
BROMO 43 153 4.97e-35 SMART
BROMO 175 289 5.84e-41 SMART
low complexity region 322 338 N/A INTRINSIC
BROMO 347 457 1.57e-32 SMART
BROMO 484 595 6.07e-39 SMART
BROMO 619 733 3.01e-43 SMART
BROMO 743 849 2.53e-18 SMART
coiled coil region 875 902 N/A INTRINSIC
BAH 924 1042 1.33e-45 SMART
low complexity region 1051 1065 N/A INTRINSIC
BAH 1124 1240 3.02e-35 SMART
low complexity region 1286 1306 N/A INTRINSIC
HMG 1346 1416 2.87e-13 SMART
low complexity region 1425 1450 N/A INTRINSIC
low complexity region 1469 1497 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000145497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157287
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: ENSMUST00000227087
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: ENSMUST00000144009
SMART Domains Protein: ENSMUSP00000123518
Gene: ENSMUSG00000042323

DomainStartEndE-ValueType
Blast:BROMO 40 68 8e-14 BLAST
PDB:3IU5|A 64 84 8e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000226379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227170
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 noncoding transcript
Transcript: ENSMUST00000226348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226959
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 probably benign
Transcript: ENSMUST00000226740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228713
Predicted Effect probably benign
Transcript: ENSMUST00000227467
Predicted Effect probably benign
Transcript: ENSMUST00000228341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228255
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 95% (104/110)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C A 11: 109,960,635 (GRCm39) A628S probably damaging Het
Abca9 T C 11: 110,036,405 (GRCm39) N568S probably damaging Het
Ada C T 2: 163,574,814 (GRCm39) A108T possibly damaging Het
Adam6a T A 12: 113,508,069 (GRCm39) D147E possibly damaging Het
Ampd1 A T 3: 103,006,154 (GRCm39) T655S probably damaging Het
Ankk1 A G 9: 49,327,139 (GRCm39) F680S probably damaging Het
Asap1 G A 15: 63,991,869 (GRCm39) T783I probably benign Het
Astn1 T A 1: 158,329,923 (GRCm39) N259K probably damaging Het
Birc6 T C 17: 74,886,673 (GRCm39) V667A probably damaging Het
Brat1 G A 5: 140,698,382 (GRCm39) V185I probably benign Het
Btnl6 T C 17: 34,732,620 (GRCm39) Y318C probably damaging Het
Caskin2 G A 11: 115,694,522 (GRCm39) P360S probably benign Het
Ccdc121rt3 T C 5: 112,503,642 (GRCm39) T21A probably benign Het
Cd68 T A 11: 69,555,754 (GRCm39) probably benign Het
Cdca2 T C 14: 67,952,355 (GRCm39) probably benign Het
Cdk6 G A 5: 3,523,217 (GRCm39) M212I probably benign Het
Ceacam5 T A 7: 17,481,159 (GRCm39) F302Y probably damaging Het
Celsr2 T C 3: 108,301,055 (GRCm39) E2746G possibly damaging Het
Clec4a4 G A 6: 122,989,703 (GRCm39) V115I probably benign Het
Clip3 C A 7: 29,998,307 (GRCm39) A251E possibly damaging Het
Cmah T C 13: 24,623,180 (GRCm39) L350P probably damaging Het
Cntnap5a C T 1: 116,370,103 (GRCm39) R907* probably null Het
Cntnap5b T C 1: 99,999,814 (GRCm39) Y191H probably benign Het
Col4a4 A T 1: 82,458,207 (GRCm39) C1122* probably null Het
Coq5 A G 5: 115,433,842 (GRCm39) probably benign Het
Cpxcr1 A G X: 115,387,136 (GRCm39) K16E possibly damaging Het
Dclk3 T C 9: 111,298,304 (GRCm39) I616T probably benign Het
Dhrs3 A T 4: 144,646,057 (GRCm39) T122S probably damaging Het
Dnm1 T C 2: 32,210,596 (GRCm39) I502V probably benign Het
Dscaml1 G T 9: 45,596,519 (GRCm39) G788W probably damaging Het
Dusp10 C T 1: 183,769,645 (GRCm39) probably null Het
Ehbp1l1 C A 19: 5,769,112 (GRCm39) L730F possibly damaging Het
Eif2ak1 C T 5: 143,808,785 (GRCm39) H75Y probably damaging Het
Evi2a T C 11: 79,418,398 (GRCm39) T71A probably benign Het
Fam184a A T 10: 53,511,461 (GRCm39) S1073T probably damaging Het
Fam227a T C 15: 79,499,582 (GRCm39) Y591C probably damaging Het
Fam83a C T 15: 57,873,272 (GRCm39) T367M probably benign Het
Fam83g A G 11: 61,593,819 (GRCm39) D451G probably damaging Het
Fbn1 A G 2: 125,203,185 (GRCm39) F1213L possibly damaging Het
Fcgbp G A 7: 27,791,273 (GRCm39) V845I probably benign Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Foxn1 T A 11: 78,251,933 (GRCm39) M433L probably benign Het
Gm6632 T G 5: 59,211,679 (GRCm39) noncoding transcript Het
Hhipl1 C T 12: 108,277,996 (GRCm39) T108I probably damaging Het
Hs2st1 A T 3: 144,141,256 (GRCm39) F271I possibly damaging Het
Ido1 T C 8: 25,074,462 (GRCm39) S303G probably damaging Het
Ints2 C T 11: 86,117,607 (GRCm39) R705H probably damaging Het
Kcnc2 A G 10: 112,292,305 (GRCm39) K49E probably damaging Het
Kif3b T A 2: 153,162,235 (GRCm39) V482E probably damaging Het
Ldlrad2 G A 4: 137,299,525 (GRCm39) P100S probably benign Het
Lrba G T 3: 86,687,573 (GRCm39) probably benign Het
Lsm11 A T 11: 45,824,730 (GRCm39) W266R probably benign Het
Mob3a A T 10: 80,522,988 (GRCm39) M215K probably benign Het
Mterf1b T G 5: 4,247,163 (GRCm39) L268R probably damaging Het
Mvk T C 5: 114,598,157 (GRCm39) F365L probably damaging Het
Myo16 T A 8: 10,552,796 (GRCm39) F945I probably damaging Het
Myo1f G T 17: 33,813,001 (GRCm39) K602N possibly damaging Het
Nr2c2ap A T 8: 70,585,765 (GRCm39) M108L probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Ogfrl1 A G 1: 23,414,890 (GRCm39) F206L probably damaging Het
Ola1 A T 2: 72,987,188 (GRCm39) I148N probably damaging Het
Or14c46 G T 7: 85,918,270 (GRCm39) H242Q probably damaging Het
Or4d10b T A 19: 12,036,844 (GRCm39) T91S probably benign Het
Or51f1d A G 7: 102,701,288 (GRCm39) Y261C probably damaging Het
Or6c2 A T 10: 129,362,824 (GRCm39) M243L probably benign Het
Or9m2 A G 2: 87,821,334 (GRCm39) N293S probably damaging Het
Otof A G 5: 30,536,876 (GRCm39) probably null Het
Pah G T 10: 87,414,175 (GRCm39) K341N probably damaging Het
Pfdn5 T A 15: 102,236,946 (GRCm39) probably null Het
Piezo2 A G 18: 63,216,202 (GRCm39) C960R probably damaging Het
Pitx2 T C 3: 129,012,488 (GRCm39) V306A probably damaging Het
Pkd1l2 C A 8: 117,792,236 (GRCm39) probably benign Het
Plekho1 T C 3: 95,896,878 (GRCm39) E197G probably damaging Het
Polr2i A G 7: 29,932,227 (GRCm39) N34S probably damaging Het
Psph A T 5: 129,848,614 (GRCm39) D22E probably damaging Het
Ptprs C A 17: 56,731,128 (GRCm39) A687S probably damaging Het
Ralgapa1 T C 12: 55,788,265 (GRCm39) K606R probably benign Het
Rigi A G 4: 40,208,868 (GRCm39) V703A possibly damaging Het
Rims1 A G 1: 22,577,362 (GRCm39) probably benign Het
Rnf213 C T 11: 119,328,576 (GRCm39) P2002L probably damaging Het
Ryr3 A T 2: 112,740,307 (GRCm39) C555S probably damaging Het
Sftpd C A 14: 40,894,384 (GRCm39) G345V probably damaging Het
Slc41a1 T A 1: 131,774,319 (GRCm39) M462K probably damaging Het
Slc44a2 A G 9: 21,264,990 (GRCm39) E676G probably damaging Het
Sox6 T A 7: 115,300,926 (GRCm39) probably benign Het
Spdye4b G A 5: 143,181,472 (GRCm39) R109Q probably damaging Het
Spef1l C A 7: 139,556,555 (GRCm39) R144L probably benign Het
Spink8 A T 9: 109,649,706 (GRCm39) I63L probably damaging Het
St3gal3 A G 4: 117,871,983 (GRCm39) L73P probably damaging Het
Stab1 A G 14: 30,871,818 (GRCm39) L1247P probably benign Het
Tat A G 8: 110,718,195 (GRCm39) R27G probably benign Het
Tcerg1l C T 7: 137,881,804 (GRCm39) R295H probably damaging Het
Tfrc T C 16: 32,445,467 (GRCm39) V596A probably damaging Het
Tgfb3 C T 12: 86,116,120 (GRCm39) probably null Het
Tmed5 A T 5: 108,280,248 (GRCm39) S15T probably benign Het
Tph1 A T 7: 46,303,286 (GRCm39) S231T probably benign Het
Trim30d G A 7: 104,121,701 (GRCm39) S198L probably damaging Het
Trpm6 T C 19: 18,773,859 (GRCm39) M412T probably benign Het
Ttn G T 2: 76,612,589 (GRCm39) D15417E probably benign Het
U2surp A G 9: 95,375,251 (GRCm39) I157T possibly damaging Het
Ubr4 A G 4: 139,156,890 (GRCm39) D2305G probably damaging Het
Uvssa A G 5: 33,546,165 (GRCm39) K179E probably benign Het
Vps35l T C 7: 118,359,436 (GRCm39) F230S probably damaging Het
Xirp2 A G 2: 67,355,411 (GRCm39) K3391E probably benign Het
Xpo7 T A 14: 70,936,473 (GRCm39) H170L probably benign Het
Zrsr2-ps1 T C 11: 22,924,404 (GRCm39) W393R probably benign 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
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
R2517:Gnl3 UTSW 14 30,736,120 (GRCm39) missense probably damaging 1.00
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'- AAATGGCAAACGCTCACATCAGTTC -3'
(R):5'- TCCCAATGTGCTTGCTTGCTAGAG -3'

Sequencing Primer
(F):5'- CAGTGGTAATCAGACTGTCCG -3'
(R):5'- CATGCATTTCCCAAGCTCAC -3'
Posted On 2014-03-28