Incidental Mutation 'IGL02536:Gnl2'
ID 297523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnl2
Ensembl Gene ENSMUSG00000028869
Gene Name guanine nucleotide binding protein nucleolar 2
Synonyms Ngp-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL02536
Quality Score
Status
Chromosome 4
Chromosomal Location 124920866-124949175 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 124946401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 541 (Q541*)
Ref Sequence ENSEMBL: ENSMUSP00000030684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030684] [ENSMUST00000036383]
AlphaFold Q99LH1
Predicted Effect probably null
Transcript: ENSMUST00000030684
AA Change: Q541*
SMART Domains Protein: ENSMUSP00000030684
Gene: ENSMUSG00000028869
AA Change: Q541*

DomainStartEndE-ValueType
Pfam:NGP1NT 43 174 1.2e-51 PFAM
SCOP:d1egaa1 178 261 8e-3 SMART
Pfam:FeoB_N 311 398 3.1e-6 PFAM
Pfam:MMR_HSR1 312 432 3.4e-13 PFAM
low complexity region 480 500 N/A INTRINSIC
low complexity region 551 579 N/A INTRINSIC
low complexity region 679 687 N/A INTRINSIC
low complexity region 700 710 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036383
SMART Domains Protein: ENSMUSP00000047783
Gene: ENSMUSG00000042707

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Pfam:Ax_dynein_light 66 252 1.2e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147550
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,685,665 (GRCm39) noncoding transcript Het
Abca8b C T 11: 109,872,574 (GRCm39) R9H probably benign Het
Adamts8 T A 9: 30,873,368 (GRCm39) S858T probably benign Het
Alg1 C T 16: 5,057,023 (GRCm39) Q245* probably null Het
Ankmy1 T C 1: 92,813,910 (GRCm39) Y423C probably damaging Het
Anp32a A T 9: 62,279,110 (GRCm39) T55S probably damaging Het
Arhgef9 A C X: 94,102,443 (GRCm39) V406G probably damaging Het
Bdkrb1 T C 12: 105,571,259 (GRCm39) F275S possibly damaging Het
Card9 C T 2: 26,248,844 (GRCm39) V102I possibly damaging Het
Ccdc81 A T 7: 89,526,788 (GRCm39) probably benign Het
Cd101 T A 3: 100,910,913 (GRCm39) D915V probably damaging Het
Cdk10 A G 8: 123,953,754 (GRCm39) D77G possibly damaging Het
Ctnnd1 T C 2: 84,435,540 (GRCm39) T827A probably benign Het
Dspp A C 5: 104,323,531 (GRCm39) T225P probably damaging Het
Evpl T C 11: 116,112,035 (GRCm39) E1885G probably damaging Het
Fstl4 C T 11: 53,024,851 (GRCm39) probably benign Het
Gm5930 T A 14: 44,575,015 (GRCm39) N57I probably damaging Het
Igkv3-1 T C 6: 70,681,035 (GRCm39) V78A probably benign Het
Inpp5a T C 7: 139,147,338 (GRCm39) I321T probably benign Het
Kif20b T A 19: 34,951,959 (GRCm39) S1746T probably benign Het
Lrrc8c T C 5: 105,755,038 (GRCm39) I271T probably benign Het
Mrps10 T C 17: 47,685,928 (GRCm39) Y152H probably damaging Het
Myl9 C T 2: 156,620,469 (GRCm39) S2L probably damaging Het
Myof A T 19: 37,938,103 (GRCm39) H870Q probably damaging Het
Nfatc4 A T 14: 56,067,367 (GRCm39) I456F probably damaging Het
Notch2 A G 3: 98,009,723 (GRCm39) H550R probably benign Het
Or13f5 T A 4: 52,825,817 (GRCm39) V140D possibly damaging Het
Or14j2 T A 17: 37,885,817 (GRCm39) I166F probably damaging Het
Or51v8 T A 7: 103,320,164 (GRCm39) I25F possibly damaging Het
Or8b47 T C 9: 38,435,460 (GRCm39) L144P probably damaging Het
P2rx1 A T 11: 72,903,300 (GRCm39) I230F probably damaging Het
Pcnt A G 10: 76,216,063 (GRCm39) V2275A possibly damaging Het
Pip5k1a G A 3: 94,971,707 (GRCm39) T465I probably benign Het
Pnkd G A 1: 74,391,059 (GRCm39) R415H probably damaging Het
Prdx4 T A X: 154,115,443 (GRCm39) I132F probably damaging Het
Pvr A G 7: 19,652,717 (GRCm39) M66T probably benign Het
Rnf216 A G 5: 143,065,995 (GRCm39) I531T probably benign Het
Rps6ka4 A T 19: 6,809,439 (GRCm39) F405Y probably damaging Het
Serpinb2 A G 1: 107,452,679 (GRCm39) probably benign Het
Sfxn1 A G 13: 54,239,513 (GRCm39) K12R probably benign Het
Slc17a7 A G 7: 44,820,370 (GRCm39) E275G probably damaging Het
Tnpo2 A T 8: 85,771,696 (GRCm39) I245F probably benign Het
Ush2a A T 1: 188,689,463 (GRCm39) probably null Het
Yju2b A T 8: 84,987,245 (GRCm39) Y109* probably null Het
Zcchc4 C T 5: 52,965,658 (GRCm39) R321W probably damaging Het
Other mutations in Gnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Gnl2 APN 4 124,941,405 (GRCm39) splice site probably null
IGL03358:Gnl2 APN 4 124,946,387 (GRCm39) missense probably damaging 1.00
PIT4283001:Gnl2 UTSW 4 124,940,099 (GRCm39) missense probably damaging 1.00
R0377:Gnl2 UTSW 4 124,940,175 (GRCm39) splice site probably benign
R0419:Gnl2 UTSW 4 124,947,320 (GRCm39) missense probably benign 0.00
R0975:Gnl2 UTSW 4 124,942,171 (GRCm39) missense probably damaging 0.99
R1529:Gnl2 UTSW 4 124,940,099 (GRCm39) missense probably damaging 1.00
R1550:Gnl2 UTSW 4 124,938,027 (GRCm39) missense probably damaging 1.00
R1942:Gnl2 UTSW 4 124,923,957 (GRCm39) missense probably benign 0.01
R2095:Gnl2 UTSW 4 124,928,111 (GRCm39) missense probably damaging 1.00
R2125:Gnl2 UTSW 4 124,947,278 (GRCm39) missense probably benign 0.01
R3712:Gnl2 UTSW 4 124,940,067 (GRCm39) missense probably damaging 0.98
R3781:Gnl2 UTSW 4 124,931,399 (GRCm39) missense probably damaging 0.99
R4656:Gnl2 UTSW 4 124,934,790 (GRCm39) nonsense probably null
R4676:Gnl2 UTSW 4 124,947,266 (GRCm39) missense possibly damaging 0.83
R4710:Gnl2 UTSW 4 124,947,252 (GRCm39) missense probably benign 0.01
R4734:Gnl2 UTSW 4 124,934,811 (GRCm39) missense probably benign
R4916:Gnl2 UTSW 4 124,937,485 (GRCm39) missense probably damaging 1.00
R5106:Gnl2 UTSW 4 124,947,329 (GRCm39) critical splice donor site probably null
R5310:Gnl2 UTSW 4 124,946,633 (GRCm39) missense probably benign 0.00
R5506:Gnl2 UTSW 4 124,949,158 (GRCm39) utr 3 prime probably benign
R5967:Gnl2 UTSW 4 124,934,823 (GRCm39) missense probably benign 0.00
R6184:Gnl2 UTSW 4 124,948,022 (GRCm39) critical splice donor site probably null
R6395:Gnl2 UTSW 4 124,940,058 (GRCm39) missense probably damaging 0.99
R6432:Gnl2 UTSW 4 124,946,353 (GRCm39) missense possibly damaging 0.86
R6672:Gnl2 UTSW 4 124,942,186 (GRCm39) missense probably damaging 1.00
R7657:Gnl2 UTSW 4 124,923,951 (GRCm39) missense probably benign 0.00
R8387:Gnl2 UTSW 4 124,949,127 (GRCm39) makesense probably null
R8408:Gnl2 UTSW 4 124,938,082 (GRCm39) missense probably damaging 0.98
R9083:Gnl2 UTSW 4 124,941,357 (GRCm39) missense probably damaging 1.00
R9276:Gnl2 UTSW 4 124,947,250 (GRCm39) missense possibly damaging 0.83
RF003:Gnl2 UTSW 4 124,937,518 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16