Incidental Mutation 'IGL01483:Noc4l'
ID88677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Noc4l
Ensembl Gene ENSMUSG00000033294
Gene NameNOC4 like
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #IGL01483
Quality Score
Status
Chromosome5
Chromosomal Location110648418-110653417 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110648958 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 486 (K486M)
Ref Sequence ENSEMBL: ENSMUSP00000038263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031478] [ENSMUST00000042147]
Predicted Effect probably benign
Transcript: ENSMUST00000031478
SMART Domains Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504

DomainStartEndE-ValueType
low complexity region 50 75 N/A INTRINSIC
DEXDc 189 442 4.04e-40 SMART
HELICc 491 573 2.86e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000042147
AA Change: K486M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294
AA Change: K486M

DomainStartEndE-ValueType
Pfam:CBF 305 453 2.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199795
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Noc4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02249:Noc4l APN 5 110653215 unclassified probably benign
PIT4280001:Noc4l UTSW 5 110651439 missense probably benign 0.38
R0326:Noc4l UTSW 5 110652375 nonsense probably null
R0544:Noc4l UTSW 5 110651123 missense possibly damaging 0.71
R1196:Noc4l UTSW 5 110650584 missense probably damaging 0.97
R1496:Noc4l UTSW 5 110650078 missense probably damaging 1.00
R1587:Noc4l UTSW 5 110653023 missense probably benign
R1699:Noc4l UTSW 5 110649847 nonsense probably null
R2113:Noc4l UTSW 5 110650559 missense possibly damaging 0.88
R2874:Noc4l UTSW 5 110649103 missense probably benign 0.00
R4080:Noc4l UTSW 5 110649872 missense probably benign 0.01
R5097:Noc4l UTSW 5 110651346 missense probably benign
R5875:Noc4l UTSW 5 110651310 critical splice donor site probably null
R6903:Noc4l UTSW 5 110649595 missense probably damaging 1.00
R7328:Noc4l UTSW 5 110648923 missense possibly damaging 0.89
R7816:Noc4l UTSW 5 110649673 missense probably benign 0.44
R8379:Noc4l UTSW 5 110650962 missense probably damaging 1.00
R8770:Noc4l UTSW 5 110648892 missense possibly damaging 0.94
Posted On2013-11-18