Incidental Mutation 'IGL01363:Pramel1'
ID75827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel1
Ensembl Gene ENSMUSG00000041805
Gene Namepreferentially expressed antigen in melanoma-like 1
Synonyms
Accession Numbers

Ncbi RefSeq: NM_031377.2; MGI:1890541

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01363
Quality Score
Status
Chromosome4
Chromosomal Location143394428-143400160 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 143397385 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 210 (Y210C)
Ref Sequence ENSEMBL: ENSMUSP00000043718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037419]
Predicted Effect probably benign
Transcript: ENSMUST00000037419
AA Change: Y210C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: Y210C

DomainStartEndE-ValueType
SCOP:d1a4ya_ 203 396 1e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119019
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,690 F23S probably damaging Het
A730017C20Rik G A 18: 59,072,308 G98D probably damaging Het
Abcg3 A G 5: 104,948,362 V528A possibly damaging Het
Adgrv1 A G 13: 81,557,065 V1542A probably damaging Het
Alkbh3 A G 2: 94,003,051 probably null Het
Ang4 G T 14: 51,764,179 T104K probably benign Het
Arhgef3 T A 14: 27,401,919 C532* probably null Het
Bnip3 G A 7: 138,898,048 T70I probably benign Het
Cast T C 13: 74,704,192 E644G possibly damaging Het
Cenpc1 A T 5: 86,046,531 C125* probably null Het
Crb2 C A 2: 37,793,833 R1116S probably benign Het
Cyp2c67 T G 19: 39,639,967 I178L probably damaging Het
Cyp2c68 T A 19: 39,703,427 M351L probably benign Het
Dusp1 G A 17: 26,506,290 P365L probably damaging Het
Gatb T C 3: 85,652,345 L492P probably damaging Het
Gm13103 A T 4: 143,853,276 Y477F probably benign Het
Igkv8-19 T C 6: 70,341,099 S48G probably damaging Het
Isyna1 G A 8: 70,594,722 V32I probably damaging Het
Itgb6 T A 2: 60,611,382 N695Y possibly damaging Het
Klra8 T C 6: 130,115,598 T247A probably benign Het
Mak G A 13: 41,053,377 probably benign Het
Mndal T A 1: 173,857,456 T516S possibly damaging Het
Mphosph9 G T 5: 124,262,021 T939K probably damaging Het
Nfrkb A G 9: 31,414,371 T1037A possibly damaging Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr25 A G 9: 38,329,703 T39A probably benign Het
Pard3b A G 1: 62,637,640 Y1011C probably damaging Het
Parm1 G A 5: 91,613,018 V250M probably damaging Het
Pgap2 T G 7: 102,226,282 M1R probably null Het
Phlpp2 T C 8: 109,937,097 F923L probably benign Het
Polr1a T A 6: 71,948,486 M739K probably benign Het
Raver2 A G 4: 101,120,583 probably benign Het
Rb1cc1 C T 1: 6,250,109 L1251F probably benign Het
Ros1 T A 10: 52,166,142 Y238F probably damaging Het
Shroom3 T C 5: 92,940,993 L534P probably benign Het
Tjp1 A T 7: 65,302,965 F1540L possibly damaging Het
Tmem200b C A 4: 131,922,393 P208Q probably benign Het
Tmem236 T C 2: 14,174,630 L14P probably damaging Het
Tubgcp6 A T 15: 89,107,525 I623N probably damaging Het
Vmn1r119 C T 7: 21,012,131 V109I probably benign Het
Vmn2r98 A G 17: 19,065,758 N173D probably benign Het
Other mutations in Pramel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Pramel1 APN 4 143397556 missense probably damaging 1.00
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
P0045:Pramel1 UTSW 4 143398522 nonsense probably null
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 On2013-10-07