Incidental Mutation 'IGL03092:Pramel16'
ID 418426
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 # IGL03092
Quality Score
Status
Chromosome 4
Chromosomal Location 143675150-143677586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 143676767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 112 (K112N)
Ref Sequence ENSEMBL: ENSMUSP00000101392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105766]
AlphaFold A2ASI9
Predicted Effect probably damaging
Transcript: ENSMUST00000105766
AA Change: K112N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: K112N

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 427 2e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,200,119 (GRCm39) L491P probably damaging Het
Abcc6 T A 7: 45,635,894 (GRCm39) D1051V probably damaging Het
Actmap T C 7: 26,900,561 (GRCm39) M180T probably damaging Het
Aqr T A 2: 113,989,424 (GRCm39) E133V probably benign Het
Bag6 A G 17: 35,364,603 (GRCm39) N911D probably damaging Het
Cdcp3 G T 7: 130,803,527 (GRCm39) probably null Het
Ces4a C T 8: 105,874,836 (GRCm39) probably benign Het
Clec3b A T 9: 122,980,100 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,243 (GRCm39) probably benign Het
Ctsg T A 14: 56,337,417 (GRCm39) *262L probably null Het
Cyp17a1 T A 19: 46,661,050 (GRCm39) H78L possibly damaging Het
Dcaf13 C A 15: 38,991,371 (GRCm39) probably benign Het
Dcun1d1 G T 3: 35,975,141 (GRCm39) Q52K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dock1 A G 7: 134,366,945 (GRCm39) probably benign Het
Dsel A G 1: 111,787,793 (GRCm39) L914P probably damaging Het
Fbxo31 A G 8: 122,286,757 (GRCm39) F174L probably benign Het
Gm9116 A G 3: 93,817,513 (GRCm39) noncoding transcript Het
Gspt1 C T 16: 11,056,763 (GRCm39) V211I probably benign Het
Hmgb1 A T 5: 148,987,508 (GRCm39) S14T probably benign Het
Igsf8 A G 1: 172,140,096 (GRCm39) probably benign Het
Klf13 A G 7: 63,541,417 (GRCm39) F237L probably damaging Het
Mon2 A T 10: 122,854,005 (GRCm39) I962N probably damaging Het
Nfx1 A G 4: 41,024,851 (GRCm39) D1108G probably damaging Het
Nr2e1 T C 10: 42,447,478 (GRCm39) Y178C probably damaging Het
Or4d10c C A 19: 12,065,230 (GRCm39) E309* probably null Het
Or52d1 A T 7: 103,755,854 (GRCm39) I123F probably damaging Het
Pde3b A T 7: 114,122,583 (GRCm39) H717L probably damaging Het
Polr1b T C 2: 128,965,049 (GRCm39) Y712H probably damaging Het
Rnf157 T A 11: 116,238,795 (GRCm39) probably null Het
Ros1 T C 10: 51,974,902 (GRCm39) E1561G probably damaging Het
Serpina6 A G 12: 103,620,154 (GRCm39) probably null Het
St18 A G 1: 6,839,118 (GRCm39) probably benign Het
Ugp2 A G 11: 21,279,722 (GRCm39) probably benign Het
Vmn1r70 T C 7: 10,368,186 (GRCm39) S225P probably benign Het
Zfp641 T C 15: 98,188,397 (GRCm39) D161G probably damaging 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
IGL02883:Pramel16 APN 4 143,676,418 (GRCm39) missense possibly damaging 0.64
IGL02961:Pramel16 APN 4 143,675,717 (GRCm39) missense probably damaging 1.00
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 2016-08-02