Incidental Mutation 'IGL02236:Pramel12'
ID 285884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel12
Ensembl Gene ENSMUSG00000046862
Gene Name PRAME like 12
Synonyms Pramef8, 4732496O08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02236
Quality Score
Status
Chromosome 4
Chromosomal Location 143138996-143147661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143143512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 93 (V93I)
Ref Sequence ENSEMBL: ENSMUSP00000058676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]
AlphaFold Q8CE24
Predicted Effect probably benign
Transcript: ENSMUST00000037356
AA Change: V93I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: V93I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059790
AA Change: V93I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: V93I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126398
Predicted Effect probably benign
Transcript: ENSMUST00000132915
Predicted Effect probably benign
Transcript: ENSMUST00000155157
AA Change: V93I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,246,138 (GRCm39) L529P probably damaging Het
Bdp1 A T 13: 100,197,399 (GRCm39) D995E probably benign Het
Cd22 T C 7: 30,566,893 (GRCm39) N607S possibly damaging Het
Ddx10 T A 9: 53,146,682 (GRCm39) D180V probably damaging Het
Dennd4c T C 4: 86,725,672 (GRCm39) Y709H possibly damaging Het
Dhrs3 A C 4: 144,620,133 (GRCm39) I17L probably benign Het
Dnah8 A T 17: 30,868,747 (GRCm39) K394* probably null Het
Flnc T A 6: 29,454,375 (GRCm39) I1896N probably damaging Het
Glipr1l2 A G 10: 111,928,534 (GRCm39) Y143C probably damaging Het
Lmo7 T C 14: 102,163,524 (GRCm39) probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mast3 A G 8: 71,241,888 (GRCm39) S98P probably benign Het
Myf5 A G 10: 107,320,051 (GRCm39) S200P possibly damaging Het
Or52r1b T G 7: 102,690,928 (GRCm39) S76A possibly damaging Het
Recql5 A C 11: 115,784,856 (GRCm39) S824A probably benign Het
Reg2 A G 6: 78,383,188 (GRCm39) E45G probably damaging Het
Rergl T C 6: 139,471,918 (GRCm39) D77G probably benign Het
Rnf224 T C 2: 25,126,260 (GRCm39) D31G probably damaging Het
Sema4c C T 1: 36,592,166 (GRCm39) S227N probably damaging Het
Sgsm2 C T 11: 74,750,698 (GRCm39) G439D probably damaging Het
Smap2 T A 4: 120,832,587 (GRCm39) M185L probably benign Het
Spty2d1 A G 7: 46,647,360 (GRCm39) V523A probably benign Het
Stk17b C A 1: 53,803,247 (GRCm39) R184L probably damaging Het
Syt13 A G 2: 92,771,210 (GRCm39) D99G probably damaging Het
Trav14-1 T A 14: 53,791,763 (GRCm39) S38T possibly damaging Het
Ttn T C 2: 76,700,812 (GRCm39) probably benign Het
Usp17la G A 7: 104,510,353 (GRCm39) W319* probably null Het
Vmn2r73 T C 7: 85,521,902 (GRCm39) T146A probably benign Het
Vwa3b C T 1: 37,193,132 (GRCm39) probably benign Het
Zfp13 A T 17: 23,799,739 (GRCm39) probably benign Het
Zscan18 A C 7: 12,503,251 (GRCm39) D769E probably benign Het
Other mutations in Pramel12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pramel12 APN 4 143,143,237 (GRCm39) start codon destroyed probably null 1.00
IGL01483:Pramel12 APN 4 143,144,047 (GRCm39) missense probably damaging 0.99
IGL01800:Pramel12 APN 4 143,145,650 (GRCm39) missense probably damaging 1.00
IGL02063:Pramel12 APN 4 143,144,421 (GRCm39) missense probably benign 0.00
IGL02216:Pramel12 APN 4 143,144,298 (GRCm39) splice site probably null
IGL03013:Pramel12 APN 4 143,144,037 (GRCm39) missense possibly damaging 0.64
R0658:Pramel12 UTSW 4 143,144,170 (GRCm39) missense probably damaging 1.00
R1485:Pramel12 UTSW 4 143,144,188 (GRCm39) missense probably benign 0.01
R2049:Pramel12 UTSW 4 143,143,441 (GRCm39) missense probably damaging 1.00
R2518:Pramel12 UTSW 4 143,144,473 (GRCm39) missense possibly damaging 0.89
R3720:Pramel12 UTSW 4 143,145,949 (GRCm39) missense probably benign 0.10
R3738:Pramel12 UTSW 4 143,143,212 (GRCm39) utr 5 prime probably benign
R3961:Pramel12 UTSW 4 143,145,888 (GRCm39) missense probably benign 0.00
R4583:Pramel12 UTSW 4 143,143,324 (GRCm39) missense probably damaging 1.00
R5135:Pramel12 UTSW 4 143,145,579 (GRCm39) missense probably benign 0.01
R5348:Pramel12 UTSW 4 143,143,351 (GRCm39) missense probably damaging 1.00
R5473:Pramel12 UTSW 4 143,145,874 (GRCm39) missense probably damaging 1.00
R5977:Pramel12 UTSW 4 143,144,229 (GRCm39) missense probably benign 0.02
R6909:Pramel12 UTSW 4 143,144,479 (GRCm39) missense probably damaging 1.00
R7441:Pramel12 UTSW 4 143,145,410 (GRCm39) missense probably benign 0.00
R7777:Pramel12 UTSW 4 143,144,331 (GRCm39) missense possibly damaging 0.88
R8053:Pramel12 UTSW 4 143,144,208 (GRCm39) missense probably benign 0.01
R8218:Pramel12 UTSW 4 143,145,706 (GRCm39) missense probably benign 0.01
R8345:Pramel12 UTSW 4 143,143,438 (GRCm39) missense probably benign 0.18
R8963:Pramel12 UTSW 4 143,144,229 (GRCm39) missense probably benign 0.02
R9047:Pramel12 UTSW 4 143,145,673 (GRCm39) missense possibly damaging 0.93
R9395:Pramel12 UTSW 4 143,145,605 (GRCm39) missense probably benign 0.23
R9570:Pramel12 UTSW 4 143,144,514 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16