Incidental Mutation 'IGL02952:4933415F23Rik'
ID364946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933415F23Rik
Ensembl Gene ENSMUSG00000073730
Gene NameRIKEN cDNA 4933415F23 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.026) question?
Stock #IGL02952
Quality Score
Status
Chromosome1
Chromosomal Location23100473-23102253 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 23101990 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 81 (I81N)
Ref Sequence ENSEMBL: ENSMUSP00000072920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073179]
Predicted Effect probably damaging
Transcript: ENSMUST00000073179
AA Change: I81N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072920
Gene: ENSMUSG00000073730
AA Change: I81N

DomainStartEndE-ValueType
Pfam:PP1_inhibitor 39 153 4.5e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191045
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,678,025 D1436V probably damaging Het
Abca7 G T 10: 80,007,408 R1239L probably damaging Het
Acp2 T C 2: 91,208,443 probably benign Het
Adamts4 A G 1: 171,251,348 N179S probably damaging Het
Adgrv1 T C 13: 81,433,636 D4763G probably benign Het
Atp11b T C 3: 35,828,695 V633A probably damaging Het
Cadm2 A T 16: 66,664,452 I342K probably damaging Het
Capn10 T C 1: 92,945,174 S541P probably damaging Het
Ccnf A G 17: 24,231,325 L462P possibly damaging Het
Cdc27 T C 11: 104,517,464 Y546C probably damaging Het
Cep120 G T 18: 53,683,228 probably benign Het
Cetn2 T C X: 72,914,202 probably null Het
Cyp1a1 C T 9: 57,702,710 S469L probably benign Het
Dnah17 G A 11: 118,088,268 T1766I probably benign Het
Doc2g G A 19: 4,006,719 G345D possibly damaging Het
Dock4 T C 12: 40,710,903 probably null Het
Dopey1 T A 9: 86,532,922 probably benign Het
Emilin2 C A 17: 71,280,821 V99F probably damaging Het
Exoc8 A G 8: 124,897,536 S31P probably benign Het
Fam198b T C 3: 79,886,339 L38P probably damaging Het
Gm3115 T C 14: 4,084,302 probably benign Het
Gm9742 T A 13: 8,029,894 noncoding transcript Het
Gpr160 T C 3: 30,896,294 Y172H probably benign Het
Ifnk T A 4: 35,152,495 L141Q probably damaging Het
Klhl36 A G 8: 119,870,484 E308G probably benign Het
Lrp1b T C 2: 41,506,703 I450M probably benign Het
Noxa1 T C 2: 25,091,761 Y110C probably damaging Het
Olfr287 T C 15: 98,207,589 Y265C probably damaging Het
Pkd2 A T 5: 104,480,160 T367S possibly damaging Het
Polg2 T C 11: 106,772,713 I385V possibly damaging Het
Prr14l A G 5: 32,835,670 S17P unknown Het
Prss22 C A 17: 23,996,723 C75F probably damaging Het
Ptgs1 A G 2: 36,251,241 K567E probably benign Het
Ptprz1 A G 6: 23,036,926 I1141M probably damaging Het
R3hcc1l A G 19: 42,563,994 K477E probably damaging Het
Riok1 A G 13: 38,048,890 Y194C probably damaging Het
Smr2 T A 5: 88,088,236 C16S possibly damaging Het
Stk25 A T 1: 93,626,076 I187N probably damaging Het
Trhde T C 10: 114,800,573 E243G probably damaging Het
Vmn2r3 T C 3: 64,278,835 E143G probably damaging Het
Other mutations in 4933415F23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4748:4933415F23Rik UTSW 1 23101870 missense probably damaging 0.99
R5206:4933415F23Rik UTSW 1 23102102 missense probably benign 0.03
R5530:4933415F23Rik UTSW 1 23101990 missense probably damaging 1.00
R6477:4933415F23Rik UTSW 1 23101780 missense probably benign 0.00
Posted On2015-12-18