Incidental Mutation 'IGL02216:Pramef8'
ID284900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramef8
Ensembl Gene ENSMUSG00000046862
Gene NamePRAME family member 8
Synonyms4732496O08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02216
Quality Score
Status
Chromosome4
Chromosomal Location143412426-143421091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 143417728 bp
ZygosityHeterozygous
Amino Acid Change (W215R)
Ref Sequence ENSEMBL: ENSMUSP00000058676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000155157]
Predicted Effect probably damaging
Transcript: ENSMUST00000037356
AA Change: W215R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: W215R

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000059790
AA Change: W215R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: W215R

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126398
Predicted Effect probably null
Transcript: ENSMUST00000155157
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik A T 18: 38,252,860 I102F probably damaging Het
4930544D05Rik T C 11: 70,616,179 F48L possibly damaging Het
5830473C10Rik T C 5: 90,579,579 noncoding transcript Het
Adamts12 A G 15: 11,241,485 N381S possibly damaging Het
Akp3 A T 1: 87,127,650 Q473L probably damaging Het
Ap5s1 T A 2: 131,212,967 V203E probably benign Het
Atp10b T A 11: 43,259,789 L1438Q probably damaging Het
B3galt4 G A 17: 33,950,565 P233L probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cc2d1a C A 8: 84,139,313 E438* probably null Het
Cd209a G T 8: 3,745,576 T165N probably damaging Het
Chid1 T C 7: 141,496,593 noncoding transcript Het
Cln3 A T 7: 126,575,342 noncoding transcript Het
Cped1 A T 6: 22,059,945 R203S probably damaging Het
Dnttip2 G T 3: 122,276,261 W375L probably benign Het
Dync1h1 T C 12: 110,663,002 F4280S probably damaging Het
Ephb4 A G 5: 137,372,070 D844G possibly damaging Het
Fhl2 T A 1: 43,131,719 E145V probably null Het
Gne T C 4: 44,044,761 K458E probably benign Het
Grid2 G T 6: 64,345,666 R550L probably damaging Het
Klhl1 T A 14: 96,123,222 T731S probably benign Het
Kng1 T A 16: 23,058,533 D30E probably damaging Het
Kyat1 A G 2: 30,187,252 V158A probably benign Het
Mcm8 G T 2: 132,839,529 V670F probably damaging Het
Mdn1 C T 4: 32,739,092 H3638Y probably benign Het
Neb T G 2: 52,226,490 T4158P probably benign Het
Neo1 T C 9: 58,917,053 I697M probably damaging Het
Nfkb1 A T 3: 135,594,963 V614D probably damaging Het
Olfr860 G A 9: 19,846,565 S18L probably damaging Het
Otog T C 7: 46,301,468 S2555P probably damaging Het
Pkd1l1 T A 11: 8,834,897 R1962S probably damaging Het
Plxnb1 A G 9: 109,100,850 Y258C probably damaging Het
Prl3a1 A G 13: 27,270,144 D35G probably benign Het
Rag1 A T 2: 101,643,381 V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,529,707 probably benign Het
Rnf112 C T 11: 61,449,978 V520M probably damaging Het
Rps18 A G 17: 33,952,041 probably benign Het
Rptn T C 3: 93,395,773 S138P possibly damaging Het
Sbpl A C 17: 23,953,716 N76K probably benign Het
Sh3bp1 A T 15: 78,905,164 M305L probably benign Het
Slc22a17 T C 14: 54,907,976 T239A possibly damaging Het
Smc3 C T 19: 53,621,844 R221C probably damaging Het
Snai1 A G 2: 167,538,848 E87G probably benign Het
Snx22 C A 9: 66,069,188 A49S probably benign Het
Tas2r143 A T 6: 42,400,334 R33* probably null Het
Try4 A G 6: 41,305,031 I184V probably benign Het
Ttn T A 2: 76,754,552 K22101* probably null Het
Ttn A G 2: 76,791,725 V15491A probably benign Het
Vmn1r170 A G 7: 23,606,490 T106A probably damaging Het
Vmn2r59 A T 7: 42,012,393 V666E probably damaging Het
Vsx1 T C 2: 150,684,575 N221S possibly damaging Het
Zcchc6 T C 13: 59,800,423 T695A probably benign Het
Zfp846 A G 9: 20,588,609 E45G probably damaging Het
Other mutations in Pramef8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pramef8 APN 4 143416667 missense probably null 1.00
IGL01483:Pramef8 APN 4 143417477 missense probably damaging 0.99
IGL01800:Pramef8 APN 4 143419080 missense probably damaging 1.00
IGL02063:Pramef8 APN 4 143417851 missense probably benign 0.00
IGL02236:Pramef8 APN 4 143416942 missense probably benign 0.07
IGL03013:Pramef8 APN 4 143417467 missense possibly damaging 0.64
R0658:Pramef8 UTSW 4 143417600 missense probably damaging 1.00
R1485:Pramef8 UTSW 4 143417618 missense probably benign 0.01
R2049:Pramef8 UTSW 4 143416871 missense probably damaging 1.00
R2518:Pramef8 UTSW 4 143417903 missense possibly damaging 0.89
R3720:Pramef8 UTSW 4 143419379 missense probably benign 0.10
R3738:Pramef8 UTSW 4 143416642 splice site noncoding transcript
R3961:Pramef8 UTSW 4 143419318 missense probably benign 0.00
R4583:Pramef8 UTSW 4 143416754 missense probably damaging 1.00
R5135:Pramef8 UTSW 4 143419009 missense probably benign 0.01
R5348:Pramef8 UTSW 4 143416781 missense probably damaging 1.00
R5473:Pramef8 UTSW 4 143419304 missense probably damaging 1.00
R5977:Pramef8 UTSW 4 143417659 missense probably benign 0.02
Posted OnApr 16, 2015