Incidental Mutation 'IGL01594:D030068K23Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D030068K23Rik
Ensembl Gene ENSMUSG00000097393
Gene NameRIKEN cDNA D030068K23 gene
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock #IGL01594
Quality Score
Chromosomal Location109075223-109221583 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 109251377 bp
Amino Acid Change Glutamine to Leucine at position 52 (Q52L)
Gene Model predicted gene model for transcript(s):
Predicted Effect unknown
Transcript: ENSMUST00000079189
AA Change: Q52L
SMART Domains Protein: ENSMUSP00000078185
Gene: ENSMUSG00000057387
AA Change: Q52L

transmembrane domain 179 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181098
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,071 probably null Het
Acss1 A T 2: 150,621,530 V618E probably damaging Het
Adgrg6 T C 10: 14,434,340 N774D probably damaging Het
Atp9a A G 2: 168,691,012 V134A probably damaging Het
Csmd3 T A 15: 47,629,239 T3169S probably benign Het
Dnah5 T C 15: 28,311,334 S1820P possibly damaging Het
Fem1c A C 18: 46,506,276 S220A probably benign Het
Gm10305 G A 4: 99,273,177 D108N unknown Het
Gtdc1 A G 2: 44,591,879 probably null Het
Il2ra T C 2: 11,680,396 V181A possibly damaging Het
Lrrn1 T C 6: 107,567,493 I84T probably damaging Het
Map3k1 T A 13: 111,758,189 probably null Het
Mical1 T G 10: 41,480,329 Y293D probably damaging Het
Mpzl1 T C 1: 165,593,592 D266G probably damaging Het
Olfr544 C A 7: 102,485,047 M24I probably benign Het
Pabpc4l A T 3: 46,447,146 V21D probably damaging Het
Prdm10 T C 9: 31,346,853 C525R probably damaging Het
Ptprj C A 2: 90,440,795 probably benign Het
Rgs3 T C 4: 62,619,744 F4S probably damaging Het
Ryr3 G A 2: 112,772,728 T2457I probably damaging Het
Scn3a A G 2: 65,461,431 I1657T probably damaging Het
Sema6a A G 18: 47,248,817 S888P probably damaging Het
Slc37a1 T A 17: 31,319,148 Y148* probably null Het
Tex10 T C 4: 48,469,906 N53S possibly damaging Het
Tyr A T 7: 87,483,814 probably benign Het
Vmn2r100 A G 17: 19,531,233 S513G possibly damaging Het
Other mutations in D030068K23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1611:D030068K23Rik UTSW 8 109249303 missense unknown
R4093:D030068K23Rik UTSW 8 109251459 intron noncoding transcript
Posted On2013-12-09