Incidental Mutation 'PIT4469001:Pramel58'
ID 555822
Institutional Source Beutler Lab
Gene Symbol Pramel58
Ensembl Gene ENSMUSG00000092073
Gene Name PRAME like 58
Synonyms Gm6205
Accession Numbers
Essential gene? Not available question?
Stock # PIT4469001 (G1)
Quality Score 153.008
Status Not validated
Chromosome 5
Chromosomal Location 94796275-94833419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94830652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 50 (V50E)
Ref Sequence ENSEMBL: ENSMUSP00000131590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165424] [ENSMUST00000190001]
AlphaFold E9PZS2
Predicted Effect probably damaging
Transcript: ENSMUST00000165424
AA Change: V50E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131590
Gene: ENSMUSG00000092073
AA Change: V50E

DomainStartEndE-ValueType
SCOP:d1a4ya_ 199 359 1e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190001
AA Change: V50E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139603
Gene: ENSMUSG00000092073
AA Change: V50E

DomainStartEndE-ValueType
SCOP:d1a4ya_ 199 359 1e-4 SMART
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 84.4%
  • 20x: 71.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik A G 1: 85,652,920 (GRCm39) F83L probably benign Het
Acsm2 T A 7: 119,177,408 (GRCm39) C308S possibly damaging Het
Ak3 A G 19: 29,025,157 (GRCm39) S25P probably damaging Het
Atp13a2 T A 4: 140,721,438 (GRCm39) V176E unknown Het
Bmper A T 9: 23,317,845 (GRCm39) H488L probably benign Het
Cacna1c A T 6: 118,572,933 (GRCm39) C2084S unknown Het
Ccp110 T A 7: 118,321,600 (GRCm39) N418K probably benign Het
Ddx17 C A 15: 79,428,014 (GRCm39) G32C probably damaging Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Dusp16 G A 6: 134,738,115 (GRCm39) probably benign Het
Efl1 T G 7: 82,307,373 (GRCm39) F90V probably benign Het
Ell2 T A 13: 75,910,011 (GRCm39) N252K probably damaging Het
Gdf6 T C 4: 9,859,569 (GRCm39) V217A probably damaging Het
H1f4 A T 13: 23,806,362 (GRCm39) V40E probably damaging Het
Hint1 T A 11: 54,760,896 (GRCm39) S112T unknown Het
Kif5c T C 2: 49,631,360 (GRCm39) V679A probably benign Het
Lrrn3 A T 12: 41,503,017 (GRCm39) D433E probably benign Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Naa11 A G 5: 97,539,485 (GRCm39) probably null Het
Pcdh18 T A 3: 49,709,518 (GRCm39) H599L probably benign Het
Pgc A T 17: 48,039,680 (GRCm39) K25* probably null Het
Psd4 G A 2: 24,284,306 (GRCm39) D57N probably benign Het
Pxdn G A 12: 30,055,828 (GRCm39) R1238Q probably benign Het
Smim41 T C 15: 101,191,152 (GRCm39) V6A probably benign Het
Spata32 T C 11: 103,100,653 (GRCm39) N38S probably benign Het
Tpr A G 1: 150,279,707 (GRCm39) T279A probably benign Het
Unc13a C A 8: 72,110,958 (GRCm39) E418* probably null Het
Vmn2r97 C A 17: 19,149,878 (GRCm39) T422K probably benign Het
Zfp474 A T 18: 52,771,791 (GRCm39) Q148L possibly damaging Het
Other mutations in Pramel58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02676:Pramel58 APN 5 94,831,730 (GRCm39) missense possibly damaging 0.64
R6809:Pramel58 UTSW 5 94,831,277 (GRCm39) missense probably benign 0.10
R6816:Pramel58 UTSW 5 94,831,773 (GRCm39) missense possibly damaging 0.70
R7482:Pramel58 UTSW 5 94,830,739 (GRCm39) missense possibly damaging 0.87
R7583:Pramel58 UTSW 5 94,830,753 (GRCm39) missense possibly damaging 0.94
R7799:Pramel58 UTSW 5 94,831,287 (GRCm39) missense possibly damaging 0.94
R8307:Pramel58 UTSW 5 94,831,416 (GRCm39) missense probably damaging 1.00
R8334:Pramel58 UTSW 5 94,830,635 (GRCm39) missense probably benign 0.04
R8459:Pramel58 UTSW 5 94,830,742 (GRCm39) missense probably damaging 0.97
R8460:Pramel58 UTSW 5 94,831,790 (GRCm39) missense probably benign 0.39
R8906:Pramel58 UTSW 5 94,831,413 (GRCm39) missense possibly damaging 0.58
R9151:Pramel58 UTSW 5 94,831,836 (GRCm39) missense possibly damaging 0.95
R9187:Pramel58 UTSW 5 94,831,755 (GRCm39) missense probably benign 0.21
Z1088:Pramel58 UTSW 5 94,831,692 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTAACTGCTTCCCCAGGAG -3'
(R):5'- GCATCTGATCCATTTAGTACAAAGCC -3'

Sequencing Primer
(F):5'- CAGGAGCCTTTACTGAAGACCTG -3'
(R):5'- TTTAGTACAAAGCCAATCTCCCTGG -3'
Posted On 2019-06-07