Incidental Mutation 'IGL01069:1700123K08Rik'
ID 51041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700123K08Rik
Ensembl Gene ENSMUSG00000029526
Gene Name RIKEN cDNA 1700123K08 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL01069
Quality Score
Status
Chromosome 5
Chromosomal Location 138560102-138562974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138560751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 215 (A215T)
Ref Sequence ENSEMBL: ENSMUSP00000031501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031501]
AlphaFold Q9D991
Predicted Effect probably benign
Transcript: ENSMUST00000031501
AA Change: A215T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031501
Gene: ENSMUSG00000029526
AA Change: A215T

DomainStartEndE-ValueType
SCOP:d1bkds_ 48 165 6e-22 SMART
Blast:RasGEFN 66 182 2e-57 BLAST
low complexity region 263 282 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199968
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in 1700123K08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:1700123K08Rik APN 5 138,561,838 (GRCm39) missense probably damaging 1.00
IGL02451:1700123K08Rik APN 5 138,561,809 (GRCm39) missense probably damaging 1.00
IGL03263:1700123K08Rik APN 5 138,562,499 (GRCm39) missense probably damaging 0.98
P0016:1700123K08Rik UTSW 5 138,561,200 (GRCm39) nonsense probably null
R0686:1700123K08Rik UTSW 5 138,562,799 (GRCm39) missense possibly damaging 0.70
R2051:1700123K08Rik UTSW 5 138,562,447 (GRCm39) missense probably damaging 1.00
R2055:1700123K08Rik UTSW 5 138,561,107 (GRCm39) missense probably damaging 0.99
R2185:1700123K08Rik UTSW 5 138,561,829 (GRCm39) missense probably damaging 1.00
R2761:1700123K08Rik UTSW 5 138,562,436 (GRCm39) missense possibly damaging 0.72
R4233:1700123K08Rik UTSW 5 138,562,454 (GRCm39) missense probably damaging 1.00
R5610:1700123K08Rik UTSW 5 138,562,403 (GRCm39) critical splice donor site probably null
R7136:1700123K08Rik UTSW 5 138,560,610 (GRCm39) missense probably damaging 0.98
R7365:1700123K08Rik UTSW 5 138,561,198 (GRCm39) missense probably benign 0.34
R8130:1700123K08Rik UTSW 5 138,561,271 (GRCm39) missense probably damaging 0.98
R8347:1700123K08Rik UTSW 5 138,561,153 (GRCm39) missense probably benign 0.00
R8350:1700123K08Rik UTSW 5 138,561,188 (GRCm39) missense probably benign 0.02
R8351:1700123K08Rik UTSW 5 138,561,188 (GRCm39) missense probably benign 0.02
R8352:1700123K08Rik UTSW 5 138,561,188 (GRCm39) missense probably benign 0.02
R8450:1700123K08Rik UTSW 5 138,561,188 (GRCm39) missense probably benign 0.02
R8451:1700123K08Rik UTSW 5 138,561,188 (GRCm39) missense probably benign 0.02
R8452:1700123K08Rik UTSW 5 138,561,188 (GRCm39) missense probably benign 0.02
R8475:1700123K08Rik UTSW 5 138,561,188 (GRCm39) missense probably benign 0.02
R9176:1700123K08Rik UTSW 5 138,561,155 (GRCm39) missense probably damaging 1.00
R9222:1700123K08Rik UTSW 5 138,560,562 (GRCm39) missense unknown
R9615:1700123K08Rik UTSW 5 138,561,814 (GRCm39) missense probably damaging 1.00
Z1176:1700123K08Rik UTSW 5 138,561,815 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21