Incidental Mutation 'IGL02000:Parp6'
ID183011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp6
Ensembl Gene ENSMUSG00000025237
Gene Namepoly (ADP-ribose) polymerase family, member 6
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.514) question?
Stock #IGL02000
Quality Score
Status
Chromosome9
Chromosomal Location59617284-59650285 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59648892 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 542 (M542V)
Ref Sequence ENSEMBL: ENSMUSP00000026267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026267] [ENSMUST00000050483] [ENSMUST00000167091] [ENSMUST00000216351]
Predicted Effect probably benign
Transcript: ENSMUST00000026267
AA Change: M542V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: M542V

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
Pfam:PARP 450 580 5.6e-15 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000050483
AA Change: M522V
SMART Domains Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: M522V

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 303 315 N/A INTRINSIC
SCOP:d1a26_2 409 475 4e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167091
SMART Domains Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
SCOP:d1a26_2 429 473 4e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000214956
AA Change: M45V
Predicted Effect silent
Transcript: ENSMUST00000216351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217284
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,319,497 F450S probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Ftsj3 C T 11: 106,250,407 R629Q probably benign Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mcidas T C 13: 112,997,440 S153P probably benign Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rassf4 T C 6: 116,645,972 E26G probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Slc22a2 A T 17: 12,584,383 I35F possibly damaging Het
Smco1 A T 16: 32,273,933 T141S possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ube2l6 T C 2: 84,809,162 probably benign Het
Usp10 T A 8: 119,948,741 Y63N possibly damaging Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
Other mutations in Parp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Parp6 APN 9 59632959 missense probably damaging 1.00
IGL01366:Parp6 APN 9 59636713 missense possibly damaging 0.75
IGL01385:Parp6 APN 9 59630612 splice site probably benign
IGL02001:Parp6 APN 9 59649961 missense possibly damaging 0.90
IGL02315:Parp6 APN 9 59641738 intron probably benign
IGL02719:Parp6 APN 9 59630738 missense probably benign 0.26
IGL02928:Parp6 APN 9 59641063 missense possibly damaging 0.70
IGL03169:Parp6 APN 9 59650017 nonsense probably null
IGL03398:Parp6 APN 9 59641053 missense probably damaging 0.97
R0165:Parp6 UTSW 9 59632925 missense probably damaging 1.00
R0602:Parp6 UTSW 9 59649365 splice site probably benign
R0781:Parp6 UTSW 9 59649564 missense probably damaging 0.99
R1110:Parp6 UTSW 9 59649564 missense probably damaging 0.99
R1730:Parp6 UTSW 9 59633538 nonsense probably null
R1783:Parp6 UTSW 9 59633538 nonsense probably null
R2264:Parp6 UTSW 9 59624005 missense probably damaging 1.00
R4323:Parp6 UTSW 9 59630686 missense possibly damaging 0.84
R4654:Parp6 UTSW 9 59641100 splice site probably null
R4672:Parp6 UTSW 9 59640110 missense probably damaging 1.00
R4673:Parp6 UTSW 9 59640110 missense probably damaging 1.00
R4708:Parp6 UTSW 9 59641769 missense probably damaging 0.98
R4709:Parp6 UTSW 9 59641769 missense probably damaging 0.98
R4763:Parp6 UTSW 9 59631365 missense probably damaging 1.00
R4782:Parp6 UTSW 9 59634984 splice site probably null
R4825:Parp6 UTSW 9 59624362 splice site probably null
R5563:Parp6 UTSW 9 59628673 splice site probably null
R5700:Parp6 UTSW 9 59624727 missense probably damaging 1.00
R6235:Parp6 UTSW 9 59630815 missense probably benign 0.34
R6269:Parp6 UTSW 9 59650012 missense probably benign
R6383:Parp6 UTSW 9 59623939 missense probably damaging 0.99
X0061:Parp6 UTSW 9 59630765 missense probably benign 0.25
Posted On2014-05-07