Incidental Mutation 'IGL02040:Pramel19'
ID 184703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel19
Ensembl Gene ENSMUSG00000070890
Gene Name PRAME like 19
Synonyms Gm12794
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL02040
Quality Score
Status
Chromosome 4
Chromosomal Location 101797604-101800380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101798331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 101 (V101I)
Ref Sequence ENSEMBL: ENSMUSP00000051550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052027]
AlphaFold L7MTS5
Predicted Effect possibly damaging
Transcript: ENSMUST00000052027
AA Change: V101I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: V101I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 257 409 9e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,630,405 (GRCm39) F107C probably damaging Het
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
A830018L16Rik T A 1: 12,003,822 (GRCm39) probably benign Het
Adgrb1 T C 15: 74,413,424 (GRCm39) V536A possibly damaging Het
Ano6 T G 15: 95,853,825 (GRCm39) I667R probably benign Het
Ap3b1 T A 13: 94,545,353 (GRCm39) probably null Het
Azin2 G T 4: 128,844,451 (GRCm39) L37M possibly damaging Het
Caap1 A G 4: 94,438,667 (GRCm39) I174T probably damaging Het
Cacna1h A G 17: 25,616,585 (GRCm39) V46A probably benign Het
Chrna6 T C 8: 27,897,289 (GRCm39) D196G probably damaging Het
Col19a1 A G 1: 24,351,126 (GRCm39) probably null Het
Defb22 G T 2: 152,331,976 (GRCm39) T19K possibly damaging Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dync1h1 A G 12: 110,603,558 (GRCm39) I2211V probably benign Het
Ecel1 A C 1: 87,082,645 (GRCm39) C23G probably benign Het
Elmod2 A G 8: 84,048,126 (GRCm39) V112A probably damaging Het
Enpp1 T C 10: 24,531,754 (GRCm39) K510E probably damaging Het
Erbb4 A T 1: 68,081,694 (GRCm39) S1113R probably damaging Het
Esf1 A T 2: 139,971,181 (GRCm39) D653E possibly damaging Het
Exd1 A G 2: 119,370,546 (GRCm39) V54A possibly damaging Het
Fam227b A T 2: 125,963,004 (GRCm39) probably benign Het
Fnbp1l A G 3: 122,364,602 (GRCm39) probably benign Het
Foxf1 A G 8: 121,812,084 (GRCm39) N316S probably damaging Het
Gpaa1 T C 15: 76,218,495 (GRCm39) V426A probably benign Het
Gpc2 A G 5: 138,274,844 (GRCm39) probably null Het
Hnrnpab A G 11: 51,492,622 (GRCm39) probably benign Het
Hsf4 T G 8: 106,002,299 (GRCm39) probably benign Het
Inpp4a G T 1: 37,435,166 (GRCm39) R179L probably damaging Het
Jakmip2 T A 18: 43,704,919 (GRCm39) M361L probably benign Het
Kif15 A C 9: 122,846,450 (GRCm39) Y117S probably damaging Het
Lnpep T C 17: 17,765,167 (GRCm39) H761R probably benign Het
Masp2 G T 4: 148,688,270 (GRCm39) C180F probably damaging Het
Mical2 A G 7: 111,910,613 (GRCm39) E261G probably damaging Het
Mtmr7 T C 8: 41,013,926 (GRCm39) I211V probably benign Het
Nsd2 T C 5: 34,024,915 (GRCm39) probably benign Het
Or4c121 A G 2: 89,023,907 (GRCm39) I157T probably benign Het
Or51q1c A G 7: 103,652,614 (GRCm39) N44S probably damaging Het
Or8d1b T C 9: 38,887,910 (GRCm39) probably benign Het
Or8j3c A G 2: 86,253,336 (GRCm39) I228T probably damaging Het
Oxct1 G A 15: 4,056,250 (GRCm39) probably benign Het
Pira13 A G 7: 3,824,516 (GRCm39) probably benign Het
Plbd2 C T 5: 120,625,507 (GRCm39) S430N probably damaging Het
Postn A G 3: 54,270,110 (GRCm39) K63R probably benign Het
Proc A T 18: 32,267,913 (GRCm39) V75E probably benign Het
Ptprt T C 2: 162,079,992 (GRCm39) Y269C probably damaging Het
Rcc2 T C 4: 140,447,902 (GRCm39) V476A possibly damaging Het
Recql5 A G 11: 115,823,623 (GRCm39) V41A possibly damaging Het
Ros1 T A 10: 51,992,018 (GRCm39) I1402F probably damaging Het
Rpgrip1 C T 14: 52,358,476 (GRCm39) T194I possibly damaging Het
Scin T C 12: 40,119,452 (GRCm39) probably benign Het
Skint4 T C 4: 112,003,679 (GRCm39) probably benign Het
Sptan1 T A 2: 29,903,725 (GRCm39) S1545T probably benign Het
Tpra1 A T 6: 88,887,164 (GRCm39) H168L possibly damaging Het
Trim47 T C 11: 115,998,734 (GRCm39) E295G probably damaging Het
Ttc28 T A 5: 111,040,802 (GRCm39) C63* probably null Het
Usp45 G A 4: 21,830,433 (GRCm39) R696H probably benign Het
Zfyve27 G A 19: 42,167,830 (GRCm39) R124Q probably damaging Het
Other mutations in Pramel19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Pramel19 APN 4 101,798,898 (GRCm39) missense probably benign 0.02
IGL01360:Pramel19 APN 4 101,797,665 (GRCm39) missense possibly damaging 0.94
IGL01837:Pramel19 APN 4 101,798,650 (GRCm39) missense probably damaging 1.00
IGL01870:Pramel19 APN 4 101,797,887 (GRCm39) missense probably benign 0.03
IGL03264:Pramel19 APN 4 101,798,329 (GRCm39) missense probably damaging 0.99
R0033:Pramel19 UTSW 4 101,798,881 (GRCm39) missense probably benign
R0334:Pramel19 UTSW 4 101,798,781 (GRCm39) missense probably benign 0.01
R0846:Pramel19 UTSW 4 101,798,447 (GRCm39) missense probably benign 0.00
R1464:Pramel19 UTSW 4 101,798,503 (GRCm39) missense probably damaging 0.97
R1464:Pramel19 UTSW 4 101,798,503 (GRCm39) missense probably damaging 0.97
R1774:Pramel19 UTSW 4 101,797,655 (GRCm39) missense probably benign 0.27
R1888:Pramel19 UTSW 4 101,798,335 (GRCm39) missense probably damaging 0.99
R1888:Pramel19 UTSW 4 101,798,335 (GRCm39) missense probably damaging 0.99
R4510:Pramel19 UTSW 4 101,798,757 (GRCm39) missense probably benign 0.00
R4511:Pramel19 UTSW 4 101,798,757 (GRCm39) missense probably benign 0.00
R4890:Pramel19 UTSW 4 101,798,788 (GRCm39) missense probably damaging 0.99
R4960:Pramel19 UTSW 4 101,798,661 (GRCm39) missense probably benign
R5043:Pramel19 UTSW 4 101,797,721 (GRCm39) missense possibly damaging 0.89
R5297:Pramel19 UTSW 4 101,798,348 (GRCm39) missense possibly damaging 0.46
R5780:Pramel19 UTSW 4 101,798,724 (GRCm39) missense probably damaging 1.00
R5957:Pramel19 UTSW 4 101,798,898 (GRCm39) missense probably benign 0.02
R6409:Pramel19 UTSW 4 101,797,874 (GRCm39) nonsense probably null
R6452:Pramel19 UTSW 4 101,798,640 (GRCm39) missense probably benign 0.02
R7619:Pramel19 UTSW 4 101,798,497 (GRCm39) missense probably benign 0.01
R8460:Pramel19 UTSW 4 101,798,424 (GRCm39) missense probably benign 0.00
R9202:Pramel19 UTSW 4 101,797,860 (GRCm39) missense probably damaging 0.98
Z1177:Pramel19 UTSW 4 101,798,322 (GRCm39) nonsense probably null
Posted On 2014-05-07