Incidental Mutation 'IGL00324:Pramel12'
ID 6537
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 # IGL00324
Quality Score
Status
Chromosome 4
Chromosomal Location 143138996-143147661 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 143143237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000117878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]
AlphaFold Q8CE24
Predicted Effect probably null
Transcript: ENSMUST00000037356
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: M1K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000059790
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: M1K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126398
Predicted Effect probably null
Transcript: ENSMUST00000132915
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000155157
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T C 3: 121,570,642 (GRCm39) probably benign Het
Cdk12 T A 11: 98,136,214 (GRCm39) L1156Q unknown Het
Ctsl T C 13: 64,515,982 (GRCm39) Y66C probably damaging Het
Esd C T 14: 74,973,467 (GRCm39) H21Y probably damaging Het
Fcrlb A C 1: 170,736,393 (GRCm39) Y128D possibly damaging Het
Gm17027 A T 14: 41,981,267 (GRCm39) N196K unknown Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpcal1 A G 12: 17,841,146 (GRCm39) S175G probably benign Het
Itgam A T 7: 127,684,833 (GRCm39) D401V probably damaging Het
Kank1 A G 19: 25,389,122 (GRCm39) T932A probably benign Het
Lmod1 A G 1: 135,292,216 (GRCm39) K357R probably benign Het
Muc4 A G 16: 32,599,186 (GRCm39) I3271V probably benign Het
Nlrc5 A G 8: 95,248,107 (GRCm39) K1692E probably damaging Het
Ocln A G 13: 100,671,521 (GRCm39) W279R probably damaging Het
Or4p20 T C 2: 88,254,130 (GRCm39) I80V probably benign Het
Pcsk1 A G 13: 75,280,206 (GRCm39) K677R probably benign Het
Pitrm1 T A 13: 6,618,702 (GRCm39) L586Q probably damaging Het
Plppr3 G A 10: 79,702,503 (GRCm39) S217L probably damaging Het
Pnldc1 A T 17: 13,124,645 (GRCm39) probably benign Het
Pramel13 A G 4: 144,121,310 (GRCm39) L238P possibly damaging Het
Sema6b C T 17: 56,437,048 (GRCm39) D204N probably damaging Het
Slc12a5 A G 2: 164,839,041 (GRCm39) N1063S probably damaging Het
Tg T C 15: 66,565,273 (GRCm39) V1205A probably benign Het
Tmem260 T C 14: 48,724,336 (GRCm39) F205L probably benign Het
Trappc11 A T 8: 47,956,337 (GRCm39) probably benign Het
Tsen34 A G 7: 3,703,530 (GRCm39) *296W probably null Het
Ubr2 A G 17: 47,296,986 (GRCm39) probably benign Het
Vmn2r23 T A 6: 123,706,684 (GRCm39) W505R possibly damaging Het
Wbp11 A G 6: 136,798,668 (GRCm39) probably benign Het
Znfx1 A T 2: 166,878,649 (GRCm39) M1909K possibly damaging Het
Other mutations in Pramel12
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20