Incidental Mutation 'IGL02222:Pramef6'
ID285174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramef6
Ensembl Gene ENSMUSG00000078512
Gene NamePRAME family member 6
SynonymsGm13099
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL02222
Quality Score
Status
Chromosome4
Chromosomal Location143894237-143900380 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 143895846 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 313 (M313T)
Ref Sequence ENSEMBL: ENSMUSP00000080350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081645] [ENSMUST00000105767]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081645
AA Change: M313T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: M313T

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 6e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105767
AA Change: M313T

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: M313T

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 1e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,282,886 R1682W probably benign Het
Angptl6 A T 9: 20,873,907 M450K probably damaging Het
Armc12 C A 17: 28,538,720 N275K probably damaging Het
Cd27 T C 6: 125,234,532 H144R probably damaging Het
Cenpf T C 1: 189,654,444 K1880E probably benign Het
Dchs1 A T 7: 105,764,887 I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 F443C possibly damaging Het
Eif3i C T 4: 129,592,088 D315N possibly damaging Het
Fam217a A G 13: 34,911,119 L128P probably damaging Het
Fam46b T C 4: 133,486,553 V245A probably damaging Het
Fetub C T 16: 22,932,328 L62F probably damaging Het
Fmn1 A T 2: 113,593,109 I1047F probably damaging Het
G2e3 A G 12: 51,363,233 H267R probably damaging Het
Gigyf2 A G 1: 87,410,863 probably null Het
Gm10650 T C 3: 128,040,140 noncoding transcript Het
Grip1 C T 10: 119,999,809 T470I probably damaging Het
Hmcn1 T G 1: 150,806,401 D466A probably benign Het
Lrrc63 T C 14: 75,086,140 Y548C probably damaging Het
Naaa T C 5: 92,259,550 probably benign Het
Parpbp T A 10: 88,140,085 E55D possibly damaging Het
Pnpt1 A T 11: 29,159,327 D691V possibly damaging Het
Pnpt1 G A 11: 29,130,842 A29T probably benign Het
Psg25 T C 7: 18,529,727 N57S probably damaging Het
Selenbp2 T A 3: 94,699,962 V168E probably damaging Het
Syne2 G A 12: 75,952,843 E2337K probably damaging Het
Synj2 A G 17: 6,037,480 T1269A probably benign Het
Tnfrsf13c C A 15: 82,223,163 V144L probably damaging Het
Uspl1 G T 5: 149,194,044 V132L probably benign Het
Vmn2r58 T A 7: 41,864,025 Y398F possibly damaging Het
Vps13a T A 19: 16,682,175 T1663S probably benign Het
Ythdc1 G A 5: 86,828,043 R503H possibly damaging Het
Other mutations in Pramef6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Pramef6 APN 4 143895631 missense probably benign
IGL01917:Pramef6 APN 4 143897714 missense probably benign 0.15
IGL02315:Pramef6 APN 4 143897928 start gained probably benign
R0488:Pramef6 UTSW 4 143895403 missense probably benign 0.00
R0755:Pramef6 UTSW 4 143897729 missense probably damaging 0.96
R0972:Pramef6 UTSW 4 143896963 missense probably benign 0.02
R1444:Pramef6 UTSW 4 143896891 missense probably benign 0.01
R1551:Pramef6 UTSW 4 143895693 missense probably benign 0.00
R1907:Pramef6 UTSW 4 143895491 missense possibly damaging 0.89
R2068:Pramef6 UTSW 4 143896912 missense probably damaging 1.00
R2182:Pramef6 UTSW 4 143897190 missense possibly damaging 0.60
R2246:Pramef6 UTSW 4 143897220 missense probably benign 0.19
R4483:Pramef6 UTSW 4 143895840 missense probably damaging 1.00
R5123:Pramef6 UTSW 4 143897136 missense probably benign 0.00
R5291:Pramef6 UTSW 4 143895667 missense probably damaging 1.00
R5643:Pramef6 UTSW 4 143895767 missense probably damaging 0.98
R5683:Pramef6 UTSW 4 143895853 missense probably damaging 1.00
R5836:Pramef6 UTSW 4 143896920 missense probably benign 0.30
R5837:Pramef6 UTSW 4 143896920 missense probably benign 0.30
R5838:Pramef6 UTSW 4 143896920 missense probably benign 0.30
R5853:Pramef6 UTSW 4 143896920 missense probably benign 0.30
R6340:Pramef6 UTSW 4 143897307 missense possibly damaging 0.69
R6572:Pramef6 UTSW 4 143895373 missense possibly damaging 0.79
R6791:Pramef6 UTSW 4 143895682 missense probably benign 0.02
R6972:Pramef6 UTSW 4 143896902 missense probably damaging 1.00
R7265:Pramef6 UTSW 4 143895421 missense probably benign 0.00
R7307:Pramef6 UTSW 4 143896775 nonsense probably null
R7342:Pramef6 UTSW 4 143896950 missense probably benign 0.26
R7361:Pramef6 UTSW 4 143895886 missense possibly damaging 0.88
R7480:Pramef6 UTSW 4 143895495 missense probably benign
R7685:Pramef6 UTSW 4 143897801 missense probably benign 0.28
R7861:Pramef6 UTSW 4 143897718 missense possibly damaging 0.75
Z1176:Pramef6 UTSW 4 143895684 missense probably damaging 1.00
Z1177:Pramef6 UTSW 4 143897199 missense probably benign 0.25
Posted On2015-04-16