Incidental Mutation 'IGL02883:Pramel16'
ID 362865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel16
Ensembl Gene ENSMUSG00000078511
Gene Name PRAME like 16
Synonyms Pramef25, Gm13109
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02883
Quality Score
Status
Chromosome 4
Chromosomal Location 143675150-143677586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143676418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 229 (T229A)
Ref Sequence ENSEMBL: ENSMUSP00000101392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105766]
AlphaFold A2ASI9
Predicted Effect possibly damaging
Transcript: ENSMUST00000105766
AA Change: T229A

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: T229A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 427 2e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,766,972 (GRCm39) S186R possibly damaging Het
Acap2 A G 16: 30,915,163 (GRCm39) probably benign Het
Cacna1h G T 17: 25,599,506 (GRCm39) R1726S probably damaging Het
Cdca2 T C 14: 67,944,946 (GRCm39) S133G probably damaging Het
Cep295nl A T 11: 118,224,735 (GRCm39) S36R probably benign Het
Crispld1 A G 1: 17,817,013 (GRCm39) N190S possibly damaging Het
Crtam A G 9: 40,905,797 (GRCm39) V44A probably benign Het
Crtc1 C T 8: 70,858,775 (GRCm39) G112S probably benign Het
Cyp17a1 T C 19: 46,657,790 (GRCm39) N254S probably benign Het
Dmrta1 T C 4: 89,577,011 (GRCm39) S156P probably benign Het
Eno2 A C 6: 124,743,172 (GRCm39) V188G probably damaging Het
Fam20a A T 11: 109,565,953 (GRCm39) I427N probably damaging Het
Fat2 T C 11: 55,147,444 (GRCm39) K3933E probably benign Het
Igkv8-30 T C 6: 70,094,601 (GRCm39) M1V probably null Het
Ist1 G A 8: 110,410,300 (GRCm39) probably benign Het
Kank4 T C 4: 98,661,690 (GRCm39) E765G possibly damaging Het
Kat14 T C 2: 144,235,449 (GRCm39) L92S probably damaging Het
Kcnu1 G A 8: 26,339,855 (GRCm39) V58I probably benign Het
Lrba T A 3: 86,261,513 (GRCm39) V1489E probably damaging Het
Lrba T A 3: 86,352,720 (GRCm39) I1956N probably damaging Het
Mdn1 G A 4: 32,763,199 (GRCm39) V5100I probably benign Het
Mkrn2os C A 6: 115,563,670 (GRCm39) G122* probably null Het
Nme3 T C 17: 25,115,880 (GRCm39) Y78H probably benign Het
Pira13 A G 7: 3,825,179 (GRCm39) S488P possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppp2r5c T G 12: 110,488,997 (GRCm39) V56G possibly damaging Het
Prdm10 G A 9: 31,238,644 (GRCm39) V179M probably damaging Het
Rab11fip2 A G 19: 59,895,430 (GRCm39) V344A probably damaging Het
Selp G A 1: 163,957,671 (GRCm39) A267T probably benign Het
Sf3a1 T A 11: 4,129,192 (GRCm39) W718R probably damaging Het
Taar9 T C 10: 23,985,378 (GRCm39) N19D probably benign Het
Tas2r113 T G 6: 132,870,382 (GRCm39) S137A probably damaging Het
Traf4 A T 11: 78,052,447 (GRCm39) I66N possibly damaging Het
Ucp3 A T 7: 100,129,849 (GRCm39) T164S probably benign Het
Uggt1 A T 1: 36,216,696 (GRCm39) N96K probably benign Het
Uqcc1 T A 2: 155,753,749 (GRCm39) Q42L possibly damaging Het
Vmn1r128 A G 7: 21,083,440 (GRCm39) K48R probably benign Het
Other mutations in Pramel16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Pramel16 APN 4 143,676,784 (GRCm39) splice site probably benign
IGL01562:Pramel16 APN 4 143,677,435 (GRCm39) missense probably damaging 1.00
IGL02422:Pramel16 APN 4 143,676,453 (GRCm39) missense probably benign 0.25
IGL02632:Pramel16 APN 4 143,676,507 (GRCm39) missense possibly damaging 0.84
IGL02745:Pramel16 APN 4 143,677,294 (GRCm39) missense probably damaging 1.00
IGL02808:Pramel16 APN 4 143,677,585 (GRCm39) utr 5 prime probably benign
IGL02961:Pramel16 APN 4 143,675,717 (GRCm39) missense probably damaging 1.00
IGL03092:Pramel16 APN 4 143,676,767 (GRCm39) missense probably damaging 0.97
FR4340:Pramel16 UTSW 4 143,676,312 (GRCm39) missense probably damaging 0.99
FR4342:Pramel16 UTSW 4 143,676,327 (GRCm39) frame shift probably null
FR4342:Pramel16 UTSW 4 143,676,312 (GRCm39) missense probably damaging 0.99
R0533:Pramel16 UTSW 4 143,677,290 (GRCm39) missense possibly damaging 0.85
R0606:Pramel16 UTSW 4 143,676,453 (GRCm39) missense probably benign 0.25
R1624:Pramel16 UTSW 4 143,676,400 (GRCm39) missense possibly damaging 0.47
R1898:Pramel16 UTSW 4 143,677,298 (GRCm39) missense probably damaging 1.00
R2029:Pramel16 UTSW 4 143,676,453 (GRCm39) missense probably benign 0.25
R2867:Pramel16 UTSW 4 143,675,456 (GRCm39) missense probably benign 0.00
R2867:Pramel16 UTSW 4 143,675,456 (GRCm39) missense probably benign 0.00
R2894:Pramel16 UTSW 4 143,675,692 (GRCm39) missense probably damaging 1.00
R4111:Pramel16 UTSW 4 143,676,475 (GRCm39) missense possibly damaging 0.93
R4298:Pramel16 UTSW 4 143,675,713 (GRCm39) nonsense probably null
R4360:Pramel16 UTSW 4 143,677,433 (GRCm39) missense possibly damaging 0.81
R4361:Pramel16 UTSW 4 143,677,433 (GRCm39) missense possibly damaging 0.81
R5137:Pramel16 UTSW 4 143,675,690 (GRCm39) missense probably benign 0.08
R5195:Pramel16 UTSW 4 143,677,450 (GRCm39) missense probably damaging 0.99
R5312:Pramel16 UTSW 4 143,675,665 (GRCm39) missense possibly damaging 0.96
R5548:Pramel16 UTSW 4 143,676,550 (GRCm39) missense probably benign 0.24
R5591:Pramel16 UTSW 4 143,675,377 (GRCm39) missense probably damaging 1.00
R5644:Pramel16 UTSW 4 143,675,374 (GRCm39) missense probably benign 0.01
R6018:Pramel16 UTSW 4 143,677,469 (GRCm39) missense possibly damaging 0.61
R6177:Pramel16 UTSW 4 143,675,576 (GRCm39) missense possibly damaging 0.51
R6335:Pramel16 UTSW 4 143,675,602 (GRCm39) missense probably benign 0.02
R6376:Pramel16 UTSW 4 143,677,267 (GRCm39) missense probably benign 0.03
R6572:Pramel16 UTSW 4 143,676,262 (GRCm39) missense probably benign 0.01
R6845:Pramel16 UTSW 4 143,676,394 (GRCm39) missense probably benign
R6939:Pramel16 UTSW 4 143,675,366 (GRCm39) missense probably benign 0.09
R7081:Pramel16 UTSW 4 143,675,848 (GRCm39) missense probably damaging 1.00
R7505:Pramel16 UTSW 4 143,676,273 (GRCm39) missense possibly damaging 0.94
R7711:Pramel16 UTSW 4 143,675,822 (GRCm39) missense probably benign 0.22
R8284:Pramel16 UTSW 4 143,676,695 (GRCm39) missense possibly damaging 0.95
R8297:Pramel16 UTSW 4 143,675,690 (GRCm39) missense probably benign 0.08
R8299:Pramel16 UTSW 4 143,677,327 (GRCm39) missense probably benign 0.24
R8700:Pramel16 UTSW 4 143,675,701 (GRCm39) missense possibly damaging 0.51
R9179:Pramel16 UTSW 4 143,676,294 (GRCm39) missense probably benign 0.01
R9199:Pramel16 UTSW 4 143,675,656 (GRCm39) missense probably damaging 1.00
R9214:Pramel16 UTSW 4 143,675,750 (GRCm39) missense probably benign 0.00
R9411:Pramel16 UTSW 4 143,676,215 (GRCm39) missense probably damaging 1.00
RF011:Pramel16 UTSW 4 143,675,478 (GRCm39) missense probably damaging 0.96
RF013:Pramel16 UTSW 4 143,675,478 (GRCm39) missense probably damaging 0.96
RF021:Pramel16 UTSW 4 143,675,478 (GRCm39) missense probably damaging 0.96
Z1176:Pramel16 UTSW 4 143,676,693 (GRCm39) missense probably benign 0.13
Posted On 2015-12-18