Incidental Mutation 'PIT4280001:Noc4l'
ID554405
Institutional Source Beutler Lab
Gene Symbol Noc4l
Ensembl Gene ENSMUSG00000033294
Gene NameNOC4 like
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #PIT4280001 (G1)
Quality Score125.008
Status Not validated
Chromosome5
Chromosomal Location110648418-110653417 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 110651439 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 159 (T159I)
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 benign
Transcript: ENSMUST00000042147
AA Change: T159I

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294
AA Change: T159I

DomainStartEndE-ValueType
Pfam:CBF 305 453 2.7e-43 PFAM
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,440,834 D161G probably damaging Het
2810474O19Rik T G 6: 149,325,525 I23S probably benign Het
Acer2 C T 4: 86,887,083 L95F probably damaging Het
Adam15 C T 3: 89,343,978 probably null Het
Bmi1 T A 2: 18,683,009 Y98* probably null Het
Cdon T C 9: 35,486,935 C983R probably damaging Het
Col12a1 T C 9: 79,678,105 R1297G probably damaging Het
Cpd A T 11: 76,791,024 M1132K probably benign Het
Dnah17 T A 11: 118,098,582 R1267W possibly damaging Het
Dnah9 G A 11: 66,005,013 A2512V probably benign Het
Eri3 G A 4: 117,582,634 G175D probably damaging Het
Fbxo9 C A 9: 78,087,511 W244L probably damaging Het
Fgfr3 A T 5: 33,732,232 H343L probably benign Het
Fmnl2 G A 2: 53,118,196 A803T unknown Het
Fmnl3 A G 15: 99,321,253 probably null Het
Fth1 C A 19: 9,984,609 A104E probably damaging Het
Gcm1 T C 9: 78,059,633 Y45H probably damaging Het
Gm5157 C G 7: 21,185,082 G179R probably damaging Het
Gpr179 A G 11: 97,344,115 I463T probably damaging Het
Gpr35 T C 1: 92,982,634 Y23H probably damaging Het
Inpp4b C T 8: 82,034,417 H647Y probably benign Het
Kif6 A T 17: 49,755,120 K436M probably benign Het
Lacc1 T A 14: 77,035,077 Q93L probably damaging Het
Lamc1 T C 1: 153,243,471 R801G probably damaging Het
Lrp2bp T G 8: 46,023,011 V263G probably damaging Het
Maats1 C T 16: 38,332,773 V160I probably benign Het
Magi3 T A 3: 104,054,352 K453N probably damaging Het
Mfsd6 T A 1: 52,660,880 Y703F probably benign Het
Mms22l A G 4: 24,581,149 T820A probably benign Het
Ndufa12 T C 10: 94,199,132 probably null Het
Nlrp12 A T 7: 3,241,433 C150S possibly damaging Het
Olfml2b T A 1: 170,647,736 C77S probably damaging Het
Olfr1259 A T 2: 89,943,743 I124N probably damaging Het
Olfr460 C A 6: 40,571,716 T110K probably damaging Het
Pdzd2 A G 15: 12,399,288 V784A probably damaging Het
Pip5kl1 A T 2: 32,583,458 Y369F probably benign Het
Pkdrej A T 15: 85,819,935 I600N probably benign Het
Psg19 T C 7: 18,796,906 I108V probably damaging Het
Pxdn G A 12: 29,995,328 V539M probably damaging Het
Rsbn1l T A 5: 20,919,655 H383L probably damaging Het
Scamp2 A T 9: 57,580,793 N118I probably damaging Het
Scn2a T C 2: 65,715,730 V879A probably damaging Het
Scn8a G A 15: 100,957,489 E172K probably damaging Het
Slc16a6 C T 11: 109,458,593 C214Y possibly damaging Het
Stag1 A G 9: 100,942,716 T922A possibly damaging Het
Svs1 A T 6: 48,987,120 M21L probably benign Het
Tarbp1 T C 8: 126,430,847 H1307R probably damaging Het
Tut1 T G 19: 8,959,262 V150G probably benign Het
Ubr2 G A 17: 46,944,863 R1371W probably damaging Het
Vmn2r124 A G 17: 18,063,225 N394D probably benign Het
Vmn2r63 T C 7: 42,903,985 T616A probably damaging Het
Zp3 G A 5: 135,984,464 V217M possibly damaging Het
Other mutations in Noc4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Noc4l APN 5 110648958 missense probably damaging 0.99
IGL02249:Noc4l APN 5 110653215 unclassified probably benign
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
Predicted Primers PCR Primer
(F):5'- TGTAGGAAGCCTCGCCTAAG -3'
(R):5'- GGAAAGCCACTACCTCTTCC -3'

Sequencing Primer
(F):5'- AAGCCTCGCCTAAGCAGCTG -3'
(R):5'- ACACTCTTCAGGGTGAGGC -3'
Posted On2019-06-07