Incidental Mutation 'IGL02297:Gm12888'
ID290206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12888
Ensembl Gene ENSMUSG00000073764
Gene Namepredicted gene 12888
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.244) question?
Stock #IGL02297
Quality Score
Status
Chromosome4
Chromosomal Location121316316-121324917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121324799 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000095515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097905]
Predicted Effect probably damaging
Transcript: ENSMUST00000097905
AA Change: E32G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095515
Gene: ENSMUSG00000073764
AA Change: E32G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Palm_thioest 32 119 2e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm2 C T 10: 61,735,548 A287V possibly damaging Het
Aqr A G 2: 114,150,481 I273T probably benign Het
Arid3c T C 4: 41,730,021 E58G possibly damaging Het
Col5a3 G T 9: 20,772,154 T1574K unknown Het
Dbh T C 2: 27,177,736 V457A probably benign Het
Gnaq A G 19: 16,378,251 D277G probably damaging Het
Il20 G A 1: 130,908,408 H133Y probably damaging Het
Itpr1 T A 6: 108,339,517 F58L possibly damaging Het
Lynx1 G T 15: 74,751,642 Q19K probably benign Het
Lyst G T 13: 13,638,092 E1030* probably null Het
Matn1 T A 4: 130,952,264 probably benign Het
Nav2 A T 7: 49,594,229 N2068I probably damaging Het
Olfr1469 C T 19: 13,411,475 T302I probably benign Het
Olfr948 T C 9: 39,318,703 I304V possibly damaging Het
Slc25a23 G T 17: 57,053,324 Q273K probably benign Het
Slco4a1 T G 2: 180,464,489 C155G probably benign Het
Txnip T C 3: 96,558,357 V41A probably damaging Het
Wnt16 C A 6: 22,297,991 Y285* probably null Het
Other mutations in Gm12888
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Gm12888 APN 4 121319445 missense possibly damaging 0.93
IGL01113:Gm12888 APN 4 121318324 missense probably damaging 0.99
R2064:Gm12888 UTSW 4 121324872 missense unknown
R2096:Gm12888 UTSW 4 121319458 missense probably benign 0.07
R2447:Gm12888 UTSW 4 121318350 missense possibly damaging 0.64
R5800:Gm12888 UTSW 4 121319428 missense probably damaging 0.99
R6406:Gm12888 UTSW 4 121319457 missense possibly damaging 0.93
Posted On2015-04-16