Incidental Mutation 'IGL01728:Pramel7'
ID105351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel7
Ensembl Gene ENSMUSG00000025839
Gene Namepreferentially expressed antigen in melanoma like 7
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01728
Quality Score
Status
Chromosome2
Chromosomal Location87489087-87497093 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 87491330 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 120 (E120D)
Ref Sequence ENSEMBL: ENSMUSP00000026957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026957]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026957
AA Change: E120D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: E120D

DomainStartEndE-ValueType
SCOP:d1a4ya_ 207 407 3e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148030
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,182,509 S54P probably benign Het
Adamtsl1 T C 4: 86,110,837 I71T probably damaging Het
Agbl3 T C 6: 34,782,157 M1T probably null Het
Ankib1 A G 5: 3,701,992 probably benign Het
Brinp3 T G 1: 146,831,551 probably null Het
Chuk T C 19: 44,098,646 N138S possibly damaging Het
Dock7 G A 4: 98,962,331 T1588M probably damaging Het
Ehbp1 G A 11: 22,101,115 T479I probably damaging Het
Gpn2 T C 4: 133,584,502 I15T possibly damaging Het
Haao A G 17: 83,835,229 F149S probably damaging Het
Hist1h3b G A 13: 23,752,729 R117H probably benign Het
Iqsec3 T A 6: 121,412,664 probably benign Het
Lrrc39 G T 3: 116,579,500 probably benign Het
Ltbp2 C A 12: 84,791,009 S1199I probably damaging Het
Mageb3 G T 2: 121,954,460 P254T probably damaging Het
Mapkbp1 C T 2: 120,023,821 P1300S probably damaging Het
Mtfmt T A 9: 65,435,818 L2H probably damaging Het
Myo18a G T 11: 77,777,856 G181W probably damaging Het
Mzf1 T C 7: 13,051,727 probably benign Het
Nfatc2 A T 2: 168,536,242 L280Q probably damaging Het
Nudt15 A G 14: 73,523,296 probably null Het
Olfr633 T C 7: 103,946,752 F62S probably damaging Het
Olfr920 A G 9: 38,756,095 M136V possibly damaging Het
Parp14 A G 16: 35,857,435 V721A probably damaging Het
Pbp2 G T 6: 135,310,075 N91K probably damaging Het
Pde7b C A 10: 20,434,464 probably null Het
Rbbp5 C T 1: 132,498,080 T516M probably benign Het
Slc16a12 A G 19: 34,690,671 V28A possibly damaging Het
Slc6a9 T C 4: 117,864,605 F276S probably damaging Het
Spata9 A T 13: 75,993,074 I147L probably benign Het
Tenm4 A T 7: 96,896,064 Y2429F probably damaging Het
Tmtc1 A G 6: 148,411,066 S212P probably benign Het
Unc5cl A T 17: 48,459,963 I122F probably damaging Het
Unc79 T A 12: 103,165,684 F2350I probably damaging Het
Other mutations in Pramel7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Pramel7 APN 2 87491085 missense probably damaging 1.00
IGL01302:Pramel7 APN 2 87491373 missense possibly damaging 0.58
IGL01365:Pramel7 APN 2 87491413 splice site probably benign
IGL01769:Pramel7 APN 2 87489588 missense probably benign 0.09
IGL01932:Pramel7 APN 2 87491113 missense possibly damaging 0.80
IGL02971:Pramel7 APN 2 87490073 missense probably benign 0.03
IGL03376:Pramel7 APN 2 87489603 missense probably damaging 1.00
IGL03380:Pramel7 APN 2 87491372 missense probably benign 0.38
R0625:Pramel7 UTSW 2 87491008 missense probably benign 0.02
R1077:Pramel7 UTSW 2 87491190 missense probably damaging 1.00
R1455:Pramel7 UTSW 2 87489723 missense probably benign 0.00
R1666:Pramel7 UTSW 2 87492403 missense probably damaging 0.99
R1863:Pramel7 UTSW 2 87491331 missense probably benign 0.35
R1977:Pramel7 UTSW 2 87491121 missense probably benign 0.01
R2141:Pramel7 UTSW 2 87489977 missense probably damaging 1.00
R3027:Pramel7 UTSW 2 87491403 missense probably benign 0.01
R4374:Pramel7 UTSW 2 87490071 missense probably benign 0.05
R4735:Pramel7 UTSW 2 87490843 nonsense probably null
R5232:Pramel7 UTSW 2 87489976 missense probably damaging 0.97
R6255:Pramel7 UTSW 2 87489663 missense probably benign 0.00
R6611:Pramel7 UTSW 2 87490049 missense probably damaging 1.00
R6898:Pramel7 UTSW 2 87489726 missense probably damaging 0.98
R7246:Pramel7 UTSW 2 87492165 missense probably damaging 1.00
R7293:Pramel7 UTSW 2 87492362 missense probably benign 0.28
R7408:Pramel7 UTSW 2 87490845 missense possibly damaging 0.89
R7431:Pramel7 UTSW 2 87489938 missense possibly damaging 0.65
R7469:Pramel7 UTSW 2 87491404 missense probably benign 0.01
R8300:Pramel7 UTSW 2 87489623 missense probably benign 0.01
Posted On2014-01-21