Incidental Mutation 'IGL02620:Pramel3a'
ID 300810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel3a
Ensembl Gene ENSMUSG00000067360
Gene Name PRAME like 3A
Synonyms Pramel3
Accession Numbers
Essential gene? Not available question?
Stock # IGL02620
Quality Score
Status
Chromosome X
Chromosomal Location 134203056-134213401 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134211158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 397 (M397V)
Ref Sequence ENSEMBL: ENSMUSP00000112761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113176] [ENSMUST00000118821]
AlphaFold A2AHA7
Predicted Effect probably benign
Transcript: ENSMUST00000113176
AA Change: M396V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108801
Gene: ENSMUSG00000067360
AA Change: M396V

DomainStartEndE-ValueType
SCOP:d1a4ya_ 231 410 7e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118821
AA Change: M397V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000112761
Gene: ENSMUSG00000067360
AA Change: M397V

DomainStartEndE-ValueType
SCOP:d1a4ya_ 232 411 7e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179952
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,231,943 (GRCm39) probably null Het
Bltp1 T C 3: 37,090,094 (GRCm39) V4174A possibly damaging Het
Ccdc150 T A 1: 54,302,704 (GRCm39) L108* probably null Het
Cdon C T 9: 35,364,095 (GRCm39) T71I probably benign Het
Chdh T C 14: 29,753,096 (GRCm39) W2R probably damaging Het
Ckap5 T G 2: 91,436,714 (GRCm39) L1605V probably benign Het
Cluh C T 11: 74,555,893 (GRCm39) Q819* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cwc27 C A 13: 104,938,714 (GRCm39) probably benign Het
Elk4 C A 1: 131,946,109 (GRCm39) A329D probably benign Het
Fbxo40 T C 16: 36,786,442 (GRCm39) H709R probably benign Het
Flna A G X: 73,273,582 (GRCm39) probably benign Het
Grip2 G T 6: 91,755,587 (GRCm39) D592E possibly damaging Het
H2-T24 T G 17: 36,328,183 (GRCm39) N100T probably damaging Het
Hepacam2 C A 6: 3,487,280 (GRCm39) probably benign Het
Ighv2-2 T A 12: 113,551,912 (GRCm39) T109S possibly damaging Het
Ipo11 T C 13: 107,012,789 (GRCm39) probably null Het
Kcnh8 T C 17: 53,205,525 (GRCm39) M540T probably damaging Het
Kifc3 A G 8: 95,836,582 (GRCm39) S82P probably damaging Het
Map4k5 T C 12: 69,939,476 (GRCm39) Y20C probably benign Het
Milr1 C A 11: 106,645,744 (GRCm39) S95R probably damaging Het
Mtnr1b A C 9: 15,785,617 (GRCm39) V47G possibly damaging Het
Nme1nme2 G T 11: 93,843,682 (GRCm39) R173S possibly damaging Het
Or6a2 T A 7: 106,600,825 (GRCm39) K81* probably null Het
Phactr2 T C 10: 13,167,632 (GRCm39) R100G probably damaging Het
Potefam1 C T 2: 111,041,970 (GRCm39) V322I probably benign Het
Ppargc1b A G 18: 61,431,810 (GRCm39) Y997H probably damaging Het
Ptprz1 A G 6: 22,959,739 (GRCm39) K79E probably damaging Het
Rabgef1 T C 5: 130,219,863 (GRCm39) S109P probably damaging Het
Raf1 A T 6: 115,609,848 (GRCm39) probably benign Het
Rptor T C 11: 119,671,413 (GRCm39) L292P probably benign Het
Slc25a45 A G 19: 5,934,554 (GRCm39) D174G probably damaging Het
Tbcd C T 11: 121,352,081 (GRCm39) T146M probably damaging Het
Zfp458 T A 13: 67,406,058 (GRCm39) H127L probably damaging Het
Posted On 2015-04-16