Incidental Mutation 'IGL02236:Pramef8'
ID285884
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: 0.060) question?
Stock #IGL02236
Quality Score
Status
Chromosome4
Chromosomal Location143412426-143421091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 143416942 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 93 (V93I)
Ref Sequence ENSEMBL: ENSMUSP00000058676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]
Predicted Effect probably benign
Transcript: ENSMUST00000037356
AA Change: V93I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: V93I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059790
AA Change: V93I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: V93I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126398
Predicted Effect probably benign
Transcript: ENSMUST00000132915
Predicted Effect probably benign
Transcript: ENSMUST00000155157
AA Change: V93I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,217,284 L529P probably damaging Het
Bdp1 A T 13: 100,060,891 D995E probably benign Het
Cd22 T C 7: 30,867,468 N607S possibly damaging Het
Ddx10 T A 9: 53,235,382 D180V probably damaging Het
Dennd4c T C 4: 86,807,435 Y709H possibly damaging Het
Dhrs3 A C 4: 144,893,563 I17L probably benign Het
Dnah8 A T 17: 30,649,773 K394* probably null Het
Flnc T A 6: 29,454,376 I1896N probably damaging Het
Glipr1l2 A G 10: 112,092,629 Y143C probably damaging Het
Lmo7 T C 14: 101,926,088 probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mast3 A G 8: 70,789,244 S98P probably benign Het
Myf5 A G 10: 107,484,190 S200P possibly damaging Het
Olfr582 T G 7: 103,041,721 S76A possibly damaging Het
Recql5 A C 11: 115,894,030 S824A probably benign Het
Reg2 A G 6: 78,406,205 E45G probably damaging Het
Rergl T C 6: 139,494,920 D77G probably benign Het
Rnf224 T C 2: 25,236,248 D31G probably damaging Het
Sema4c C T 1: 36,553,085 S227N probably damaging Het
Sgsm2 C T 11: 74,859,872 G439D probably damaging Het
Smap2 T A 4: 120,975,390 M185L probably benign Het
Spty2d1 A G 7: 46,997,612 V523A probably benign Het
Stk17b C A 1: 53,764,088 R184L probably damaging Het
Syt13 A G 2: 92,940,865 D99G probably damaging Het
Trav14-1 T A 14: 53,554,306 S38T possibly damaging Het
Ttn T C 2: 76,870,468 probably benign Het
Usp17la G A 7: 104,861,146 W319* probably null Het
Vmn2r73 T C 7: 85,872,694 T146A probably benign Het
Vwa3b C T 1: 37,154,051 probably benign Het
Zfp13 A T 17: 23,580,765 probably benign Het
Zscan18 A C 7: 12,769,324 D769E probably benign Het
Other mutations in Pramef8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pramef8 APN 4 143416667 start codon destroyed 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
IGL02216:Pramef8 APN 4 143417728 unclassified probably null
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 utr 5 prime probably benign
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
R6909:Pramef8 UTSW 4 143417909 missense probably damaging 1.00
R7441:Pramef8 UTSW 4 143418840 missense probably benign 0.00
Posted On2015-04-16