Incidental Mutation 'IGL01594:D030068K23Rik'
ID91677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D030068K23Rik
Ensembl Gene ENSMUSG00000097393
Gene NameRIKEN cDNA D030068K23 gene
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock #IGL01594
Quality Score
Status
Chromosome8
Chromosomal Location109075223-109221583 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 109251377 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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