Incidental Mutation 'IGL01483:Pramel12'
ID 88692
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 # IGL01483
Quality Score
Status
Chromosome 4
Chromosomal Location 143138996-143147661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143144047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 131 (E131V)
Ref Sequence ENSEMBL: ENSMUSP00000058676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]
AlphaFold Q8CE24
Predicted Effect probably damaging
Transcript: ENSMUST00000037356
AA Change: E131V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: E131V

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000059790
AA Change: E131V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: E131V

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126398
Predicted Effect probably benign
Transcript: ENSMUST00000132915
Predicted Effect probably damaging
Transcript: ENSMUST00000155157
AA Change: E131V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,351,201 (GRCm39) noncoding transcript Het
Abcb4 T C 5: 8,977,871 (GRCm39) I483T probably damaging Het
Ank3 A T 10: 69,710,639 (GRCm39) H388L probably damaging Het
Arhgap24 T C 5: 103,008,243 (GRCm39) Y52H possibly damaging Het
Atf7ip A G 6: 136,564,457 (GRCm39) N900S probably damaging Het
Bmp10 A T 6: 87,410,933 (GRCm39) D242V probably damaging Het
Ceacam12 A G 7: 17,801,446 (GRCm39) R142G probably benign Het
Cilp2 T A 8: 70,335,496 (GRCm39) I501F probably damaging Het
Cplane1 T G 15: 8,216,591 (GRCm39) I603S probably damaging Het
Dglucy T C 12: 100,819,476 (GRCm39) V426A probably damaging Het
Dyrk1b A G 7: 27,882,101 (GRCm39) D94G probably damaging Het
Efcab3 T C 11: 104,630,173 (GRCm39) V968A probably benign Het
Erbb2 C T 11: 98,325,365 (GRCm39) R898C probably damaging Het
Fbxo7 T C 10: 85,880,445 (GRCm39) Y298H probably damaging Het
Gcg T C 2: 62,310,827 (GRCm39) D25G possibly damaging Het
Helb A G 10: 119,947,043 (GRCm39) V90A probably damaging Het
Krt40 T A 11: 99,433,553 (GRCm39) E144D probably damaging Het
Lpo G A 11: 87,711,964 (GRCm39) T31I probably benign Het
Mc5r A G 18: 68,472,315 (GRCm39) I225V probably damaging Het
Mccc1 A G 3: 36,044,009 (GRCm39) F245L probably damaging Het
Mindy4 A G 6: 55,193,670 (GRCm39) D121G probably damaging Het
Nap1l4 A T 7: 143,081,053 (GRCm39) probably null Het
Noc4l T A 5: 110,796,824 (GRCm39) K486M probably damaging Het
Notum T C 11: 120,547,482 (GRCm39) D271G probably damaging Het
Pan3 T A 5: 147,466,783 (GRCm39) L550Q probably benign Het
Pde4dip A G 3: 97,661,465 (GRCm39) S594P probably damaging Het
Prr23a1 T G 9: 98,725,369 (GRCm39) S244A probably benign Het
Rarb T C 14: 16,432,273 (GRCm38) probably benign Het
Sh3d19 A G 3: 86,022,103 (GRCm39) D511G probably benign Het
Slco6c1 T C 1: 97,055,832 (GRCm39) N23S probably benign Het
Smarcc1 G T 9: 110,051,128 (GRCm39) G983* probably null Het
Tbc1d22a A T 15: 86,275,404 (GRCm39) Q442L probably benign Het
Tuba1b A G 15: 98,830,338 (GRCm39) Y161H possibly damaging Het
Zdhhc14 G A 17: 5,762,733 (GRCm39) M212I 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
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
IGL02236:Pramel12 APN 4 143,143,512 (GRCm39) missense probably benign 0.07
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 2013-11-18