Incidental Mutation 'IGL01069:1700123K08Rik'
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ID51041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700123K08Rik
Ensembl Gene ENSMUSG00000029526
Gene NameRIKEN cDNA 1700123K08 gene
Synonyms
Accession Numbers

NCBI RefSeq: NM_029693.2; MGI:1923908

Is this an essential gene? Probably non essential (E-score: 0.020) question?
Stock #IGL01069
Quality Score
Status
Chromosome5
Chromosomal Location138561840-138564712 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 138562489 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 215 (A215T)
Ref Sequence ENSEMBL: ENSMUSP00000031501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031501]
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: 76,950,275 V124I probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apc2 G A 10: 80,311,986 C929Y probably damaging Het
Arap2 T C 5: 62,649,856 H1156R probably benign Het
Arhgap9 A G 10: 127,328,952 T582A probably damaging Het
Ccdc57 T A 11: 120,861,259 H832L probably benign Het
Ces3b T C 8: 105,091,574 S92P probably benign Het
Ces5a A G 8: 93,525,544 probably null Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpb2 T A 14: 75,270,775 D225E probably damaging Het
Cpne8 C T 15: 90,615,110 probably null Het
Cux2 G A 5: 121,867,351 T924M possibly damaging Het
Dtl T A 1: 191,561,539 probably null Het
Dysf T A 6: 84,199,785 I1912N possibly damaging Het
Edc4 T A 8: 105,887,134 F369I probably benign Het
Fibcd1 T C 2: 31,821,519 E298G probably benign Het
Focad C A 4: 88,326,146 H788N unknown Het
Frem1 C T 4: 83,013,867 R199H probably benign Het
Gadl1 T C 9: 115,954,839 probably null Het
Hipk1 G A 3: 103,777,699 T200I possibly damaging Het
Ighv14-2 C T 12: 113,994,759 V21I possibly damaging Het
Kank4 A T 4: 98,778,395 I605N probably damaging Het
Krt88 T G 15: 101,453,627 *172G probably null Het
Lmf2 C A 15: 89,352,888 A408S probably benign Het
Lsm12 T C 11: 102,164,070 probably benign Het
Myo3b A G 2: 70,245,391 I580V probably benign Het
Myt1 T C 2: 181,825,956 M1061T probably damaging Het
Nup133 G A 8: 123,930,982 R405* probably null Het
Olfr1032 A G 2: 86,008,547 Y257C probably damaging Het
Olfr1377 A T 11: 50,985,003 I101F possibly damaging Het
Olfr229 A T 9: 39,910,606 M268L possibly damaging Het
Pcnx A G 12: 81,918,144 R362G probably benign Het
Pomt2 G T 12: 87,110,304 T747K probably damaging Het
Rgma G A 7: 73,417,491 A165T probably damaging Het
Rhbdf2 T C 11: 116,601,751 D437G possibly damaging Het
Rpl5 T C 5: 107,907,279 probably null Het
Rtkn2 A G 10: 68,041,664 D518G probably benign Het
Sclt1 T C 3: 41,741,991 probably benign Het
Sidt2 C T 9: 45,943,077 V616I possibly damaging Het
Ska2 A G 11: 87,109,265 probably benign Het
Slc13a4 C A 6: 35,268,882 L609F probably damaging Het
Sorbs3 T C 14: 70,191,155 E390G probably damaging Het
Syt15 T C 14: 34,224,924 V220A possibly damaging Het
Tob1 T C 11: 94,214,055 F139S probably damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in 1700123K08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:1700123K08Rik APN 5 138563576 missense probably damaging 1.00
IGL02451:1700123K08Rik APN 5 138563547 missense probably damaging 1.00
IGL03263:1700123K08Rik APN 5 138564237 missense probably damaging 0.98
P0016:1700123K08Rik UTSW 5 138562938 nonsense probably null
R0686:1700123K08Rik UTSW 5 138564537 missense possibly damaging 0.70
R2051:1700123K08Rik UTSW 5 138564185 missense probably damaging 1.00
R2055:1700123K08Rik UTSW 5 138562845 missense probably damaging 0.99
R2185:1700123K08Rik UTSW 5 138563567 missense probably damaging 1.00
R2761:1700123K08Rik UTSW 5 138564174 missense possibly damaging 0.72
R4233:1700123K08Rik UTSW 5 138564192 missense probably damaging 1.00
R5610:1700123K08Rik UTSW 5 138564141 critical splice donor site probably null
Posted On2013-06-21