Incidental Mutation 'IGL00693:Pramel28'
ID 277857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel28
Ensembl Gene ENSMUSG00000078510
Gene Name PRAME like 28
Synonyms Gm13101
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL00693
Quality Score
Status
Chromosome 4
Chromosomal Location 143691088-143693520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 143692392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 203 (P203Q)
Ref Sequence ENSEMBL: ENSMUSP00000101389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105763]
AlphaFold A2ASJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000105763
AA Change: P203Q

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: P203Q

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 2e-9 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 G A 19: 20,677,410 (GRCm39) P404S probably damaging Het
Bltp1 A G 3: 37,106,696 (GRCm39) probably benign Het
Ccng1 A G 11: 40,644,885 (GRCm39) V4A probably benign Het
Col4a3 T C 1: 82,675,475 (GRCm39) Y1176H unknown Het
Dyrk3 T C 1: 131,064,074 (GRCm39) I3V possibly damaging Het
Gpsm3 A G 17: 34,810,247 (GRCm39) E149G probably damaging Het
Hsd3b6 A C 3: 98,713,594 (GRCm39) L235R probably damaging Het
Ipo11 A T 13: 107,033,768 (GRCm39) F238Y probably damaging Het
Kcnh7 C T 2: 62,564,598 (GRCm39) R887K probably benign Het
Lrrc8a T C 2: 30,145,327 (GRCm39) V47A probably benign Het
Lsm14b A G 2: 179,674,419 (GRCm39) N241D probably damaging Het
Mtss1 T A 15: 58,815,973 (GRCm39) D529V probably damaging Het
Nup58 A T 14: 60,475,969 (GRCm39) S283T probably benign Het
Odad2 C T 18: 7,211,504 (GRCm39) G790D probably damaging Het
Pno1 A G 11: 17,161,317 (GRCm39) L64P probably benign Het
Proc A G 18: 32,256,566 (GRCm39) V367A probably benign Het
Sez6l A T 5: 112,569,879 (GRCm39) I964N probably damaging Het
Speer2 A T 16: 69,657,406 (GRCm39) M79K probably benign Het
Tef T C 15: 81,699,384 (GRCm39) S131P probably benign Het
Ubr2 T C 17: 47,283,907 (GRCm39) T581A probably benign Het
Unc13c A T 9: 73,665,884 (GRCm39) D1045E probably benign Het
Vsig8 T C 1: 172,389,156 (GRCm39) V136A probably damaging Het
Wee1 A T 7: 109,734,060 (GRCm39) probably null Het
Other mutations in Pramel28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Pramel28 APN 4 143,693,184 (GRCm39) splice site probably benign
IGL00688:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL00690:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL00694:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL01412:Pramel28 APN 4 143,691,565 (GRCm39) missense probably damaging 1.00
IGL01781:Pramel28 APN 4 143,692,299 (GRCm39) missense probably benign
IGL02426:Pramel28 APN 4 143,693,229 (GRCm39) missense possibly damaging 0.75
IGL02508:Pramel28 APN 4 143,691,590 (GRCm39) missense probably benign 0.13
IGL03338:Pramel28 APN 4 143,692,608 (GRCm39) missense probably benign 0.03
IGL03338:Pramel28 APN 4 143,692,411 (GRCm39) missense probably benign 0.01
R0201:Pramel28 UTSW 4 143,691,460 (GRCm39) missense probably damaging 1.00
R0325:Pramel28 UTSW 4 143,693,310 (GRCm39) missense probably damaging 1.00
R0538:Pramel28 UTSW 4 143,691,653 (GRCm39) missense possibly damaging 0.76
R1471:Pramel28 UTSW 4 143,691,523 (GRCm39) missense probably benign 0.25
R1544:Pramel28 UTSW 4 143,692,632 (GRCm39) missense probably benign 0.00
R1891:Pramel28 UTSW 4 143,693,235 (GRCm39) missense probably damaging 1.00
R2012:Pramel28 UTSW 4 143,692,637 (GRCm39) missense probably benign 0.00
R2105:Pramel28 UTSW 4 143,692,390 (GRCm39) missense probably benign
R2939:Pramel28 UTSW 4 143,693,247 (GRCm39) missense probably benign 0.00
R2940:Pramel28 UTSW 4 143,693,247 (GRCm39) missense probably benign 0.00
R3723:Pramel28 UTSW 4 143,693,251 (GRCm39) missense probably benign
R3952:Pramel28 UTSW 4 143,692,356 (GRCm39) nonsense probably null
R4028:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R4029:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R4030:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R5059:Pramel28 UTSW 4 143,691,565 (GRCm39) missense probably damaging 0.99
R5222:Pramel28 UTSW 4 143,691,362 (GRCm39) missense possibly damaging 0.55
R5591:Pramel28 UTSW 4 143,691,530 (GRCm39) missense probably damaging 1.00
R5677:Pramel28 UTSW 4 143,691,708 (GRCm39) missense possibly damaging 0.59
R6021:Pramel28 UTSW 4 143,692,336 (GRCm39) missense probably benign
R6042:Pramel28 UTSW 4 143,692,631 (GRCm39) missense probably benign 0.04
R6155:Pramel28 UTSW 4 143,691,712 (GRCm39) missense probably benign 0.00
R6604:Pramel28 UTSW 4 143,692,567 (GRCm39) missense probably benign 0.02
R6807:Pramel28 UTSW 4 143,691,581 (GRCm39) missense probably damaging 1.00
R7244:Pramel28 UTSW 4 143,692,455 (GRCm39) missense probably benign
R7505:Pramel28 UTSW 4 143,691,556 (GRCm39) missense probably benign 0.00
R7526:Pramel28 UTSW 4 143,692,387 (GRCm39) missense probably benign 0.00
R8121:Pramel28 UTSW 4 143,691,611 (GRCm39) missense probably benign 0.01
R8408:Pramel28 UTSW 4 143,692,212 (GRCm39) missense probably benign
R8890:Pramel28 UTSW 4 143,691,494 (GRCm39) missense probably benign 0.10
R8989:Pramel28 UTSW 4 143,691,770 (GRCm39) missense probably benign 0.04
R9054:Pramel28 UTSW 4 143,692,314 (GRCm39) missense probably benign 0.18
R9622:Pramel28 UTSW 4 143,692,348 (GRCm39) missense probably benign 0.00
Z1088:Pramel28 UTSW 4 143,692,132 (GRCm39) missense probably benign
Z1177:Pramel28 UTSW 4 143,692,345 (GRCm39) missense probably benign 0.02
Z1177:Pramel28 UTSW 4 143,692,161 (GRCm39) missense probably benign 0.42
Posted On 2015-04-16