Incidental Mutation 'IGL00688:1700009N14Rik'
ID 12408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700009N14Rik
Ensembl Gene ENSMUSG00000028287
Gene Name RIKEN cDNA 1700009N14 gene
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # IGL00688
Quality Score
Status
Chromosome 4
Chromosomal Location 39450295-39451776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39451443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 216 (L216F)
Ref Sequence ENSEMBL: ENSMUSP00000029955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029955]
AlphaFold Q14AA6
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: 91,516,842 (GRCm39) probably benign Het
Fgf7 A G 2: 125,931,365 (GRCm39) T157A probably damaging Het
Irak4 A G 15: 94,464,744 (GRCm39) H438R possibly damaging Het
Kansl1 T C 11: 104,315,892 (GRCm39) T49A probably damaging Het
Kcnh5 T C 12: 74,945,171 (GRCm39) K693E probably benign Het
Nfrkb T A 9: 31,300,345 (GRCm39) D45E probably damaging Het
Pramel28 G T 4: 143,692,392 (GRCm39) P203Q possibly damaging Het
Prlr T C 15: 10,322,467 (GRCm39) probably benign Het
Prpf40b A G 15: 99,214,012 (GRCm39) K789E probably benign Het
Reep5 A T 18: 34,482,746 (GRCm39) S154R probably benign Het
Setx T A 2: 29,038,457 (GRCm39) S1647R possibly damaging Het
Sptbn2 A G 19: 4,775,966 (GRCm39) E174G probably damaging Het
Taf1 A G X: 100,606,545 (GRCm39) E1248G probably damaging Het
Tanc1 T G 2: 59,645,735 (GRCm39) L929R probably damaging Het
Tanc2 A G 11: 105,689,516 (GRCm39) Y226C probably damaging Het
Tmem69 T C 4: 116,410,671 (GRCm39) I100V probably benign Het
Other mutations in 1700009N14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4377001:1700009N14Rik UTSW 4 39,451,129 (GRCm39) missense possibly damaging 0.76
R0308:1700009N14Rik UTSW 4 39,450,989 (GRCm39) missense probably damaging 1.00
R5061:1700009N14Rik UTSW 4 39,450,953 (GRCm39) missense probably benign 0.03
R5154:1700009N14Rik UTSW 4 39,450,938 (GRCm39) missense probably damaging 1.00
R5507:1700009N14Rik UTSW 4 39,451,084 (GRCm39) missense probably damaging 0.96
R6463:1700009N14Rik UTSW 4 39,450,938 (GRCm39) missense probably damaging 0.98
R6924:1700009N14Rik UTSW 4 39,450,884 (GRCm39) missense probably damaging 1.00
R7253:1700009N14Rik UTSW 4 39,451,391 (GRCm39) missense not run
R7487:1700009N14Rik UTSW 4 39,450,929 (GRCm39) missense probably damaging 1.00
R7790:1700009N14Rik UTSW 4 39,451,201 (GRCm39) missense possibly damaging 0.89
R8758:1700009N14Rik UTSW 4 39,450,811 (GRCm39) missense probably benign
R9379:1700009N14Rik UTSW 4 39,451,201 (GRCm39) missense possibly damaging 0.89
Posted On 2012-12-06