Incidental Mutation 'IGL01932:Pramel7'
ID180453
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: 0.106) question?
Stock #IGL01932
Quality Score
Status
Chromosome2
Chromosomal Location87489087-87497093 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87491113 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 193 (S193T)
Ref Sequence ENSEMBL: ENSMUSP00000026957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026957]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026957
AA Change: S193T

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: S193T

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,125 N73S probably benign Het
Adcy1 T A 11: 7,100,565 probably benign Het
Adipor2 G A 6: 119,361,864 H143Y probably damaging Het
Ankar A G 1: 72,698,987 I12T probably benign Het
Ankdd1a C T 9: 65,507,611 probably benign Het
Cadps A G 14: 12,373,609 probably benign Het
Cdh22 G A 2: 165,170,808 T119M probably benign Het
Col6a6 T A 9: 105,689,626 K2223N probably benign Het
Dnah11 G A 12: 118,192,270 probably benign Het
Ezh2 T C 6: 47,532,048 T674A probably damaging Het
Ffar4 A G 19: 38,097,530 E135G probably damaging Het
Fsip2 G A 2: 82,994,005 R6694Q possibly damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4222 A G 2: 90,148,457 probably benign Het
Hipk3 T A 2: 104,470,981 N289Y probably damaging Het
Kndc1 T C 7: 139,923,790 L1003P probably damaging Het
Mdk T C 2: 91,931,116 N72S probably damaging Het
Olfr520 T A 7: 99,735,500 I119N probably damaging Het
Olfr666 T A 7: 104,893,218 I137F probably damaging Het
Pafah1b3 A T 7: 25,297,091 C56S probably benign Het
Pdzrn4 A G 15: 92,746,278 I189V probably damaging Het
Plekhh2 A G 17: 84,577,261 N801S probably benign Het
Prkag1 A G 15: 98,814,531 I171T probably damaging Het
Rap1b A T 10: 117,822,860 F23I probably damaging Het
Scamp2 A G 9: 57,561,116 probably benign Het
Ttn A T 2: 76,884,474 probably benign Het
Vmn2r17 A T 5: 109,427,050 R74S probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wif1 G T 10: 121,096,035 C288F 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
IGL01728:Pramel7 APN 2 87491330 missense possibly damaging 0.95
IGL01769:Pramel7 APN 2 87489588 missense probably benign 0.09
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 On2014-05-07