Incidental Mutation 'IGL01118:Noto'
ID51343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Noto
Ensembl Gene ENSMUSG00000068302
Gene Namenotochord homeobox
Synonymstc, MmNot, Not, Flh
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.254) question?
Stock #IGL01118
Quality Score
Status
Chromosome6
Chromosomal Location85423886-85428877 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85424210 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 74 (S74P)
Ref Sequence ENSEMBL: ENSMUSP00000087006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089578]
Predicted Effect probably benign
Transcript: ENSMUST00000089578
AA Change: S74P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000087006
Gene: ENSMUSG00000068302
AA Change: S74P

DomainStartEndE-ValueType
HOX 149 211 4.04e-22 SMART
low complexity region 213 225 N/A INTRINSIC
Predicted Effect
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice display decreased tail length, a truncated or disrupted notochord, abnormal and missing vertebrae, occasional hindlimb paralysis and postnatal lethality, and abnormal somite and sclerotome development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Amdhd1 A T 10: 93,531,568 D241E probably benign Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm21319 T A 12: 87,773,442 N116Y probably damaging Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Gtf2h3 T C 5: 124,595,668 V268A probably damaging Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Igkv3-2 A T 6: 70,698,994 S96C probably damaging Het
Mgl2 A G 11: 70,134,189 E12G probably benign Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Nkrf A G X: 36,888,757 F624S probably damaging Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Ttf2 A G 3: 100,967,097 probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Zdhhc15 G T X: 104,598,106 Q82K probably benign Het
Other mutations in Noto
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03081:Noto APN 6 85424109 missense probably damaging 1.00
R1837:Noto UTSW 6 85424177 missense probably benign 0.00
R6898:Noto UTSW 6 85427960 missense probably damaging 1.00
R7188:Noto UTSW 6 85428065 missense possibly damaging 0.64
R7476:Noto UTSW 6 85425499 missense probably damaging 1.00
RF003:Noto UTSW 6 85424210 missense probably benign 0.01
Posted On2013-06-21