Incidental Mutation 'IGL02960:1700129C05Rik'
ID 365310
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 # IGL02960
Quality Score
Status
Chromosome 14
Chromosomal Location 59370489-59380342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59380257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 14 (R14C)
Ref Sequence ENSEMBL: ENSMUSP00000125361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022548] [ENSMUST00000159858] [ENSMUST00000162271] [ENSMUST00000162674]
AlphaFold Q9CQ77
Predicted Effect probably benign
Transcript: ENSMUST00000022548
AA Change: R14C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022548
Gene: ENSMUSG00000021977
AA Change: R14C

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159858
AA Change: R14C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125361
Gene: ENSMUSG00000021977
AA Change: R14C

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,325,701 (GRCm39) L251* probably null Het
Atpaf2 T C 11: 60,296,650 (GRCm39) E161G probably damaging Het
Brwd1 T C 16: 95,858,666 (GRCm39) D381G probably damaging Het
Cept1 T A 3: 106,446,712 (GRCm39) R45* probably null Het
Col3a1 A G 1: 45,367,615 (GRCm39) E273G unknown Het
Cuzd1 T C 7: 130,921,832 (GRCm39) N57D probably benign Het
Cyp2b13 A G 7: 25,761,101 (GRCm39) K53E probably benign Het
Fadd T C 7: 144,134,276 (GRCm39) E203G probably benign Het
Gm3159 G A 14: 4,400,552 (GRCm38) probably null Het
Gpr137c T C 14: 45,483,890 (GRCm39) F206L possibly damaging Het
Hephl1 G T 9: 14,995,615 (GRCm39) T471N probably damaging Het
Ido1 A T 8: 25,083,345 (GRCm39) probably benign Het
Krt40 C T 11: 99,430,693 (GRCm39) probably null Het
Lrp2 T A 2: 69,285,797 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,147,025 (GRCm39) L613H probably damaging Het
Mettl14 A G 3: 123,168,534 (GRCm39) Y169H probably damaging Het
Nlrp4a A G 7: 26,149,155 (GRCm39) Q254R probably benign Het
Or4c15 A C 2: 88,760,128 (GRCm39) M177R possibly damaging Het
Or7c70 A T 10: 78,683,371 (GRCm39) I126N probably damaging Het
Pira12 T C 7: 3,900,078 (GRCm39) T175A possibly damaging Het
Pkhd1 A T 1: 20,447,670 (GRCm39) M2241K possibly damaging Het
Ptprd G A 4: 76,047,105 (GRCm39) S387L probably damaging Het
Ryr1 A C 7: 28,759,478 (GRCm39) L3264R probably damaging Het
Serpina16 G A 12: 103,641,638 (GRCm39) T29I probably benign Het
Slc9a7 A G X: 20,052,382 (GRCm39) M237T probably benign Het
Tbck A G 3: 132,428,544 (GRCm39) T300A probably benign Het
Tcaf1 A C 6: 42,663,393 (GRCm39) D162E probably benign Het
Unc80 G A 1: 66,717,217 (GRCm39) probably benign Het
Usp17le A C 7: 104,417,947 (GRCm39) H398Q probably benign Het
Utp15 G A 13: 98,389,389 (GRCm39) T303M probably benign Het
Vmn2r86 A C 10: 130,289,636 (GRCm39) D86E possibly damaging Het
Zmym2 T A 14: 57,175,870 (GRCm39) C822S probably benign Het
Zp3r T C 1: 130,511,175 (GRCm39) D336G possibly damaging Het
Zpr1 A G 9: 46,184,849 (GRCm39) H82R probably damaging Het
Other mutations in 1700129C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:1700129C05Rik APN 14 59,380,252 (GRCm39) missense possibly damaging 0.85
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 2015-12-18