Incidental Mutation 'IGL01475:1700129C05Rik'
ID 88429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700129C05Rik
Ensembl Gene ENSMUSG00000021977
Gene Name RIKEN cDNA 1700129C05 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL01475
Quality Score
Status
Chromosome 14
Chromosomal Location 59370489-59380342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59380252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 15 (N15K)
Ref Sequence ENSEMBL: ENSMUSP00000125361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022548] [ENSMUST00000159858] [ENSMUST00000162271] [ENSMUST00000162674]
AlphaFold Q9CQ77
Predicted Effect possibly damaging
Transcript: ENSMUST00000022548
AA Change: N15K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022548
Gene: ENSMUSG00000021977
AA Change: N15K

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000159858
AA Change: N15K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125361
Gene: ENSMUSG00000021977
AA Change: N15K

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162271
Predicted Effect probably benign
Transcript: ENSMUST00000162674
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,362,664 (GRCm39) I587K probably damaging Het
Adamtsl4 T C 3: 95,584,843 (GRCm39) S942G probably benign Het
Adamtsl5 A G 10: 80,180,750 (GRCm39) F104S probably damaging Het
Adgrf5 A G 17: 43,761,245 (GRCm39) D980G probably benign Het
Apba1 A T 19: 23,894,950 (GRCm39) D462V possibly damaging Het
Arhgef11 T C 3: 87,634,433 (GRCm39) probably benign Het
Cd74 T C 18: 60,943,393 (GRCm39) probably benign Het
Cdc16 T C 8: 13,831,542 (GRCm39) S592P probably benign Het
Cenpj A G 14: 56,802,502 (GRCm39) M21T possibly damaging Het
Col28a1 A G 6: 8,103,521 (GRCm39) L425S probably damaging Het
Dbt C T 3: 116,313,908 (GRCm39) T25I possibly damaging Het
Dguok C A 6: 83,467,552 (GRCm39) M98I possibly damaging Het
Dmxl1 T C 18: 50,004,781 (GRCm39) L943P probably damaging Het
Eloa G A 4: 135,738,231 (GRCm39) S243L probably benign Het
Enkur C A 2: 21,201,530 (GRCm39) A52S probably damaging Het
Ezh1 T C 11: 101,083,787 (GRCm39) E744G probably damaging Het
Fbxw11 T C 11: 32,672,101 (GRCm39) S190P possibly damaging Het
Foxb1 G A 9: 69,666,550 (GRCm39) probably benign Het
Gabra5 C T 7: 57,058,432 (GRCm39) G439S probably damaging Het
Gtf2h2 A T 13: 100,617,541 (GRCm39) V207D probably damaging Het
Hoatz A G 9: 51,011,358 (GRCm39) I93T probably benign Het
Krt76 A G 15: 101,796,948 (GRCm39) V317A probably benign Het
Lair1 C A 7: 4,012,683 (GRCm39) probably benign Het
Lrit2 T A 14: 36,791,051 (GRCm39) H243Q probably damaging Het
Mast3 C T 8: 71,232,174 (GRCm39) A1268T probably damaging Het
Matn2 G A 15: 34,316,671 (GRCm39) M4I possibly damaging Het
Mob1b T A 5: 88,897,502 (GRCm39) F137I probably damaging Het
Mreg T C 1: 72,203,325 (GRCm39) probably benign Het
Nom1 T C 5: 29,651,272 (GRCm39) V684A possibly damaging Het
Pate2 T A 9: 35,580,998 (GRCm39) L1Q probably null Het
Pla2r1 T C 2: 60,271,425 (GRCm39) probably benign Het
Plxna1 A G 6: 89,331,870 (GRCm39) F447L possibly damaging Het
Pno1 A T 11: 17,160,992 (GRCm39) I114N probably damaging Het
Ppp1r7 T G 1: 93,288,540 (GRCm39) probably benign Het
Pprc1 T A 19: 46,059,968 (GRCm39) Y1503N probably benign Het
Rab30 T C 7: 92,484,930 (GRCm39) V132A probably damaging Het
Slc15a4 T C 5: 127,679,024 (GRCm39) T439A probably benign Het
Slc29a3 A G 10: 60,559,596 (GRCm39) V186A possibly damaging Het
Stxbp5l G A 16: 37,165,454 (GRCm39) T88I possibly damaging Het
Tarbp1 A G 8: 127,160,701 (GRCm39) V1250A probably benign Het
Tcte2 A T 17: 13,937,824 (GRCm39) probably benign Het
Trp53bp1 A T 2: 121,100,800 (GRCm39) probably null Het
Trpc4 A T 3: 54,173,828 (GRCm39) L407F possibly damaging Het
Vmn1r6 T C 6: 56,979,896 (GRCm39) F164S probably damaging Het
Zfp579 C A 7: 4,997,743 (GRCm39) R56L probably benign Het
Other mutations in 1700129C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02960:1700129C05Rik APN 14 59,380,257 (GRCm39) missense probably benign 0.11
PIT4402001:1700129C05Rik UTSW 14 59,380,084 (GRCm39) missense probably damaging 0.99
R0226:1700129C05Rik UTSW 14 59,379,569 (GRCm39) missense possibly damaging 0.92
R0324:1700129C05Rik UTSW 14 59,380,256 (GRCm39) missense probably damaging 0.99
R0345:1700129C05Rik UTSW 14 59,377,079 (GRCm39) missense possibly damaging 0.66
R2251:1700129C05Rik UTSW 14 59,380,061 (GRCm39) missense probably damaging 0.99
R2252:1700129C05Rik UTSW 14 59,380,061 (GRCm39) missense probably damaging 0.99
R2253:1700129C05Rik UTSW 14 59,380,061 (GRCm39) missense probably damaging 0.99
R5574:1700129C05Rik UTSW 14 59,380,205 (GRCm39) missense possibly damaging 0.59
R7572:1700129C05Rik UTSW 14 59,380,128 (GRCm39) missense possibly damaging 0.95
R8346:1700129C05Rik UTSW 14 59,380,221 (GRCm39) missense probably damaging 0.99
R8394:1700129C05Rik UTSW 14 59,379,623 (GRCm39) missense probably benign
X0063:1700129C05Rik UTSW 14 59,377,498 (GRCm39) missense possibly damaging 0.81
Posted On 2013-11-18