Incidental Mutation 'IGL00688:1700009N14Rik'
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ID12408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700009N14Rik
Ensembl Gene ENSMUSG00000028287
Gene NameRIKEN cDNA 1700009N14 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.951) question?
Stock #IGL00688
Quality Score
Status
Chromosome4
Chromosomal Location39450295-39451776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39451443 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 216 (L216F)
Ref Sequence ENSEMBL: ENSMUSP00000029955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029955]
Predicted Effect probably benign
Transcript: ENSMUST00000029955
AA Change: L216F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029955
Gene: ENSMUSG00000028287
AA Change: L216F

DomainStartEndE-ValueType
RAN 16 216 3.9e-163 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169881
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg13 A T 2: 91,686,497 probably benign Het
Fgf7 A G 2: 126,089,445 T157A probably damaging Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Irak4 A G 15: 94,566,863 H438R possibly damaging Het
Kansl1 T C 11: 104,425,066 T49A probably damaging Het
Kcnh5 T C 12: 74,898,397 K693E probably benign Het
Nfrkb T A 9: 31,389,049 D45E probably damaging Het
Prlr T C 15: 10,322,381 probably benign Het
Prpf40b A G 15: 99,316,131 K789E probably benign Het
Reep5 A T 18: 34,349,693 S154R probably benign Het
Setx T A 2: 29,148,445 S1647R possibly damaging Het
Sptbn2 A G 19: 4,725,938 E174G probably damaging Het
Taf1 A G X: 101,562,939 E1248G probably damaging Het
Tanc1 T G 2: 59,815,391 L929R probably damaging Het
Tanc2 A G 11: 105,798,690 Y226C probably damaging Het
Tmem69 T C 4: 116,553,474 I100V probably benign Het
Other mutations in 1700009N14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0308:1700009N14Rik UTSW 4 39450989 missense probably damaging 1.00
R5061:1700009N14Rik UTSW 4 39450953 missense probably benign 0.03
R5154:1700009N14Rik UTSW 4 39450938 missense probably damaging 1.00
R5507:1700009N14Rik UTSW 4 39451084 missense probably damaging 0.96
R6463:1700009N14Rik UTSW 4 39450938 missense probably damaging 0.98
R6924:1700009N14Rik UTSW 4 39450884 missense probably damaging 1.00
Posted On2012-12-06