Incidental Mutation 'IGL02514:Pramef17'
ID296662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramef17
Ensembl Gene ENSMUSG00000078509
Gene NamePRAME family member 17
SynonymsGm13107
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02514
Quality Score
Status
Chromosome4
Chromosomal Location143991119-143994369 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 143993202 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 198 (K198E)
Ref Sequence ENSEMBL: ENSMUSP00000101388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105762]
Predicted Effect probably benign
Transcript: ENSMUST00000105762
AA Change: K198E

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101388
Gene: ENSMUSG00000078509
AA Change: K198E

DomainStartEndE-ValueType
low complexity region 188 200 N/A INTRINSIC
SCOP:d1a4ya_ 205 408 5e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,852,171 C114* probably null Het
4933421I07Rik A G 7: 42,447,557 M110T probably damaging Het
Amer1 A G X: 95,426,511 V667A possibly damaging Het
Casr C T 16: 36,500,325 G487E probably damaging Het
Catsperd G A 17: 56,661,271 G552D probably damaging Het
Ceacam3 A G 7: 17,162,981 D624G possibly damaging Het
Celsr2 A G 3: 108,397,510 V2208A probably benign Het
Clca4a G A 3: 144,955,071 S664F probably damaging Het
Ddx23 A T 15: 98,658,318 S40T unknown Het
Dhodh G A 8: 109,606,264 R58* probably null Het
Dhx36 A G 3: 62,500,898 L173S possibly damaging Het
Dnaaf5 C T 5: 139,174,117 probably benign Het
Dnah3 T C 7: 119,966,247 D2546G probably damaging Het
Eef2 T G 10: 81,179,593 I316S probably benign Het
Efcab6 T C 15: 84,032,942 D139G possibly damaging Het
Efcab6 A T 15: 83,871,311 probably benign Het
Eif4g3 T A 4: 138,126,194 I357N possibly damaging Het
Elovl2 G A 13: 41,194,771 T44M probably benign Het
Fam92a T G 4: 12,164,080 probably benign Het
Fbln1 T A 15: 85,244,262 C553* probably null Het
Fip1l1 T C 5: 74,571,152 V310A probably damaging Het
Gast A G 11: 100,336,892 D100G probably benign Het
Gk G A X: 85,713,364 probably benign Het
Gm1330 G A 2: 148,999,385 probably benign Het
Hspg2 C A 4: 137,569,576 T4355K probably benign Het
Ipo7 T C 7: 110,048,828 V639A possibly damaging Het
Lrrc7 T C 3: 158,160,292 M1271V probably damaging Het
Msantd1 T A 5: 34,921,543 S141T probably damaging Het
Myo9b T C 8: 71,291,006 I237T probably damaging Het
Olfr1129 G A 2: 87,575,193 M36I probably benign Het
Olfr1286 A C 2: 111,420,772 Y60D probably damaging Het
Olfr322 T C 11: 58,665,643 F28S probably damaging Het
Olfr532 A T 7: 140,419,594 Y60N probably damaging Het
Pan2 A T 10: 128,310,741 M416L possibly damaging Het
Pank4 T C 4: 154,970,465 F209L probably damaging Het
Pcdhb13 A T 18: 37,442,991 I141L possibly damaging Het
Pik3r2 A G 8: 70,770,592 Y422H probably benign Het
Prdm4 A T 10: 85,907,917 I158N probably damaging Het
Prl T G 13: 27,059,394 L14R probably damaging Het
Rabl6 C A 2: 25,608,176 A23S probably damaging Het
Rbm15b T A 9: 106,884,977 H664L probably damaging Het
Rhobtb1 T A 10: 69,289,641 H618Q probably benign Het
Slc15a1 T C 14: 121,487,040 K140R probably damaging Het
Slc6a17 A G 3: 107,495,677 S145P possibly damaging Het
Snx31 T C 15: 36,525,582 T324A probably damaging Het
Spatc1l T C 10: 76,569,656 probably benign Het
Taar7b A G 10: 24,000,984 N349S probably benign Het
Tbx19 T C 1: 165,153,704 I74V probably benign Het
Tmtc2 G A 10: 105,190,099 T836I possibly damaging Het
Vmn2r72 C A 7: 85,738,699 M552I possibly damaging Het
Vsig10l A G 7: 43,463,914 T199A probably benign Het
Washc4 A T 10: 83,570,083 E481V probably damaging Het
Zc3h15 T A 2: 83,653,381 N33K probably damaging Het
Other mutations in Pramef17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Pramef17 APN 4 143993324 missense probably benign 0.01
IGL01981:Pramef17 APN 4 143994354 missense probably damaging 1.00
IGL02322:Pramef17 APN 4 143992021 splice site probably benign
IGL02806:Pramef17 APN 4 143992931 splice site probably null
IGL02888:Pramef17 APN 4 143994099 missense probably benign 0.42
IGL03032:Pramef17 APN 4 143993245 missense probably damaging 1.00
R0269:Pramef17 UTSW 4 143993518 splice site probably benign
R0363:Pramef17 UTSW 4 143991651 missense probably benign 0.01
R0617:Pramef17 UTSW 4 143993518 splice site probably benign
R1456:Pramef17 UTSW 4 143993281 missense probably benign
R1475:Pramef17 UTSW 4 143994312 missense probably benign 0.00
R1724:Pramef17 UTSW 4 143993432 missense probably benign 0.00
R2158:Pramef17 UTSW 4 143994315 missense possibly damaging 0.65
R2210:Pramef17 UTSW 4 143994219 missense probably benign
R3834:Pramef17 UTSW 4 143994226 missense probably benign 0.01
R4438:Pramef17 UTSW 4 143991622 missense probably damaging 1.00
R5152:Pramef17 UTSW 4 143994260 missense probably damaging 0.97
R5832:Pramef17 UTSW 4 143991962 missense probably damaging 0.98
R6809:Pramef17 UTSW 4 143993081 missense probably benign 0.01
R6986:Pramef17 UTSW 4 143993318 missense probably damaging 0.99
R7072:Pramef17 UTSW 4 143994128 missense probably damaging 0.97
R7144:Pramef17 UTSW 4 143991533 missense probably benign 0.43
R7268:Pramef17 UTSW 4 143993520 splice site probably null
R7737:Pramef17 UTSW 4 143991956 missense possibly damaging 0.89
R8048:Pramef17 UTSW 4 143991607 missense probably benign 0.04
R8074:Pramef17 UTSW 4 143991854 missense probably benign 0.00
Posted On2015-04-16