Incidental Mutation 'P0045:Pramel1'
ID7778
Institutional Source Beutler Lab
Gene Symbol Pramel1
Ensembl Gene ENSMUSG00000041805
Gene Namepreferentially expressed antigen in melanoma-like 1
Synonyms
MMRRC Submission 038292-MU
Accession Numbers

Ncbi RefSeq: NM_031377.2; MGI:1890541

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #P0045 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location143394428-143400160 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 143398522 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 339 (R339*)
Ref Sequence ENSEMBL: ENSMUSP00000043718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037419]
Predicted Effect probably null
Transcript: ENSMUST00000037419
AA Change: R339*
SMART Domains Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: R339*

DomainStartEndE-ValueType
SCOP:d1a4ya_ 203 396 1e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119019
Meta Mutation Damage Score 0.9580 question?
Coding Region Coverage
  • 1x: 79.8%
  • 3x: 69.7%
  • 10x: 39.8%
  • 20x: 17.7%
Validation Efficiency 80% (82/102)
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 T A 11: 83,368,026 N736K probably damaging Het
Chsy3 C A 18: 59,409,006 Y405* probably null Het
Col12a1 A G 9: 79,647,611 S2062P probably damaging Het
Ddx42 T A 11: 106,231,272 D204E probably damaging Het
Dnah11 A G 12: 118,030,327 V2328A probably benign Het
Efcab6 T C 15: 83,918,199 K876E probably damaging Het
Immt T G 6: 71,868,617 I404M possibly damaging Het
Kcp A G 6: 29,498,348 V403A probably damaging Het
Litaf C T 16: 10,963,365 R90H probably benign Het
Med12l T A 3: 59,091,535 S639T probably damaging Het
Pcm1 T A 8: 41,288,097 M1091K probably damaging Het
Prss32 A G 17: 23,859,320 S327G probably benign Het
Tnfsf8 A G 4: 63,851,167 probably benign Het
Tpm3 T C 3: 90,091,093 probably null Het
Ubac2 T C 14: 121,973,596 probably benign Het
Yeats2 A G 16: 20,156,945 E117G possibly damaging Het
Other mutations in Pramel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Pramel1 APN 4 143397556 missense probably damaging 1.00
IGL01363:Pramel1 APN 4 143397385 missense probably benign 0.00
IGL01713:Pramel1 APN 4 143397082 missense probably benign 0.01
IGL02334:Pramel1 APN 4 143397526 missense probably damaging 0.98
IGL02957:Pramel1 APN 4 143397598 missense probably benign 0.22
PIT4431001:Pramel1 UTSW 4 143398390 missense possibly damaging 0.61
R0136:Pramel1 UTSW 4 143397446 missense probably damaging 1.00
R0544:Pramel1 UTSW 4 143397605 missense possibly damaging 0.94
R0612:Pramel1 UTSW 4 143397531 missense probably damaging 0.99
R1700:Pramel1 UTSW 4 143398429 missense probably damaging 1.00
R2425:Pramel1 UTSW 4 143398466 missense probably damaging 1.00
R2927:Pramel1 UTSW 4 143398818 missense probably benign
R4012:Pramel1 UTSW 4 143396690 missense possibly damaging 0.48
R5253:Pramel1 UTSW 4 143398586 missense probably benign 0.03
R5388:Pramel1 UTSW 4 143397384 missense probably benign 0.00
R6457:Pramel1 UTSW 4 143396705 missense probably damaging 1.00
R7052:Pramel1 UTSW 4 143396504 missense probably damaging 1.00
R7543:Pramel1 UTSW 4 143398423 missense probably damaging 0.99
Posted On2012-10-29