Incidental Mutation 'IGL02690:Papd7'
ID303686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papd7
Ensembl Gene ENSMUSG00000034575
Gene NamePAP associated domain containing 7
SynonymsPols, LAK-1, TRF4, TRF4-1
Accession Numbers

Ncbi RefSeq: NM_198600.2, NM_001169131.1; MGI: 2682295

Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #IGL02690
Quality Score
Status
Chromosome13
Chromosomal Location69497959-69534617 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 69510625 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 364 (M364L)
Ref Sequence ENSEMBL: ENSMUSP00000142516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044081] [ENSMUST00000198607] [ENSMUST00000223344]
Predicted Effect probably benign
Transcript: ENSMUST00000044081
AA Change: M121L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000040757
Gene: ENSMUSG00000034575
AA Change: M121L

DomainStartEndE-ValueType
Pfam:NTP_transf_2 15 124 4.1e-20 PFAM
Pfam:PAP_assoc 178 238 5.4e-19 PFAM
low complexity region 343 368 N/A INTRINSIC
low complexity region 496 505 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198607
AA Change: M364L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142516
Gene: ENSMUSG00000034575
AA Change: M364L

DomainStartEndE-ValueType
low complexity region 46 98 N/A INTRINSIC
low complexity region 106 118 N/A INTRINSIC
low complexity region 122 145 N/A INTRINSIC
low complexity region 206 220 N/A INTRINSIC
Pfam:NTP_transf_2 258 368 1.6e-14 PFAM
Pfam:PAP_assoc 421 481 8.3e-16 PFAM
low complexity region 586 611 N/A INTRINSIC
low complexity region 739 748 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221578
Predicted Effect probably benign
Transcript: ENSMUST00000223344
AA Change: M121L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]
Allele List at MGI

All alleles(5) : Targeted(4) Gene trapped(1)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,480,921 V896A probably damaging Het
Ahnak C A 19: 9,012,584 S3744* probably null Het
Aldh7a1 A G 18: 56,528,355 probably benign Het
Ankk1 T A 9: 49,421,900 I95F probably damaging Het
Borcs8 C A 8: 70,165,088 A32D probably damaging Het
Cdh1 T A 8: 106,657,884 I328N probably damaging Het
Cebpz C T 17: 78,922,557 D856N probably damaging Het
Clip2 T A 5: 134,510,159 probably benign Het
Dock7 C A 4: 98,969,635 V1451F possibly damaging Het
Edem3 T G 1: 151,804,799 C558W probably damaging Het
Eif3f T C 7: 108,934,718 V96A probably damaging Het
Gen1 A G 12: 11,241,575 S738P probably damaging Het
Gm12666 T A 4: 92,191,011 D191V probably damaging Het
Gm8906 C T 5: 11,505,261 Q66* probably null Het
Ipo8 A T 6: 148,777,363 S912R probably benign Het
Kcp G T 6: 29,484,999 probably benign Het
Lrrfip1 A G 1: 91,053,661 T2A probably damaging Het
Lyst A G 13: 13,641,125 E1198G possibly damaging Het
Maml1 A G 11: 50,258,630 L761P probably damaging Het
Mon2 T A 10: 123,009,627 E1392V possibly damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Nov A G 15: 54,747,802 Y111C probably damaging Het
Olfr156 G A 4: 43,821,190 T57M possibly damaging Het
Olfr181 G A 16: 58,925,851 T240I possibly damaging Het
Rag2 A T 2: 101,629,494 I50L probably benign Het
Rasgrf2 T C 13: 92,030,765 N267D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsc1a1 A T 4: 141,685,301 V100D probably damaging Het
Rtp1 T C 16: 23,431,382 Y166H probably damaging Het
Scly A T 1: 91,305,325 T109S probably benign Het
Scn8a A T 15: 100,970,254 S327C probably damaging Het
Sgsm1 T C 5: 113,286,767 probably benign Het
Slc4a9 A G 18: 36,531,987 Y463C probably damaging Het
Sptan1 A G 2: 29,998,183 M936V possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tbx20 T A 9: 24,773,737 N37Y probably benign Het
Tex14 C T 11: 87,486,274 T148I probably benign Het
Ubxn7 A G 16: 32,381,605 E371G probably benign Het
Ugt2b35 T C 5: 87,001,237 F116L probably benign Het
Vmn2r111 C T 17: 22,559,042 probably null Het
Vmn2r26 T C 6: 124,026,132 L167P probably benign Het
Vps13b T C 15: 35,917,142 W3711R probably damaging Het
Wdr5 A T 2: 27,534,828 T326S probably benign Het
Other mutations in Papd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Papd7 APN 13 69500559 missense probably benign 0.02
IGL03047:Papd7 UTSW 13 69502911 missense probably damaging 1.00
P0027:Papd7 UTSW 13 69506955 nonsense probably null
R0309:Papd7 UTSW 13 69499932 missense possibly damaging 0.95
R1713:Papd7 UTSW 13 69503051 missense probably benign 0.10
R2936:Papd7 UTSW 13 69502327 missense possibly damaging 0.82
R3809:Papd7 UTSW 13 69512996 missense probably damaging 0.98
R4927:Papd7 UTSW 13 69502900 splice site probably null
R6419:Papd7 UTSW 13 69510666 missense possibly damaging 0.91
R7011:Papd7 UTSW 13 69500080 missense probably damaging 1.00
R7505:Papd7 UTSW 13 69506928 missense probably damaging 1.00
R7547:Papd7 UTSW 13 69533704 missense probably benign 0.04
R7554:Papd7 UTSW 13 69500072 missense probably damaging 1.00
T0722:Papd7 UTSW 13 69506955 nonsense probably null
Posted On2015-04-16