Incidental Mutation 'IGL00502:Papd5'
ID6215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papd5
Ensembl Gene ENSMUSG00000036779
Gene NamePAP associated domain containing 5
Synonyms5730445M16Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #IGL00502
Quality Score
Status
Chromosome8
Chromosomal Location88199213-88259722 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 88252258 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 63 (Q63*)
Ref Sequence ENSEMBL: ENSMUSP00000120503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066748] [ENSMUST00000118952] [ENSMUST00000119033] [ENSMUST00000154115]
Predicted Effect probably null
Transcript: ENSMUST00000066748
AA Change: Q453*
SMART Domains Protein: ENSMUSP00000067971
Gene: ENSMUSG00000036779
AA Change: Q453*

DomainStartEndE-ValueType
low complexity region 21 47 N/A INTRINSIC
low complexity region 83 117 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
Pfam:NTP_transf_2 206 315 1.6e-16 PFAM
Pfam:PAP_assoc 326 386 2.4e-18 PFAM
low complexity region 496 526 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118952
AA Change: Q496*
SMART Domains Protein: ENSMUSP00000112608
Gene: ENSMUSG00000036779
AA Change: Q496*

DomainStartEndE-ValueType
low complexity region 21 47 N/A INTRINSIC
low complexity region 83 117 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
Pfam:NTP_transf_2 206 317 1.1e-16 PFAM
Pfam:PAP_assoc 369 429 1.1e-17 PFAM
low complexity region 539 569 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119033
AA Change: Q496*
SMART Domains Protein: ENSMUSP00000112766
Gene: ENSMUSG00000036779
AA Change: Q496*

DomainStartEndE-ValueType
low complexity region 21 47 N/A INTRINSIC
low complexity region 83 117 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
Pfam:NTP_transf_2 206 318 4.6e-18 PFAM
Pfam:PAP_assoc 369 429 4.8e-17 PFAM
low complexity region 539 569 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125043
Predicted Effect probably null
Transcript: ENSMUST00000154115
AA Change: Q63*
SMART Domains Protein: ENSMUSP00000120503
Gene: ENSMUSG00000036779
AA Change: Q63*

DomainStartEndE-ValueType
low complexity region 74 92 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,403,397 I82N probably damaging Het
Ampd2 A T 3: 108,077,396 L422H probably damaging Het
Angptl2 T A 2: 33,228,394 V60E probably damaging Het
Ano3 G A 2: 110,771,050 probably benign Het
Arhgap40 A G 2: 158,531,158 D112G probably benign Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Btrc A T 19: 45,527,265 E553V probably damaging Het
Cacna1b A T 2: 24,651,200 Y1323* probably null Het
Ccdc146 A G 5: 21,301,422 C674R possibly damaging Het
Ccdc170 A G 10: 4,546,836 D458G probably damaging Het
Cfap57 T A 4: 118,581,001 M898L probably benign Het
Crybg1 C T 10: 43,958,313 V1961I probably damaging Het
Dsp T C 13: 38,197,846 S2257P probably damaging Het
Dytn A G 1: 63,678,840 V12A probably benign Het
Foxk2 A G 11: 121,297,099 probably benign Het
Gfi1b G A 2: 28,614,785 Q70* probably null Het
Gm20388 T C 8: 124,328,098 M204T probably damaging Het
Gsdmc T C 15: 63,804,421 T58A probably benign Het
Hikeshi G A 7: 89,923,610 T26I probably benign Het
Mpdz T C 4: 81,369,723 D433G probably damaging Het
Ndufb5 T A 3: 32,744,899 V55D probably damaging Het
Nostrin T C 2: 69,183,992 S431P probably benign Het
Pdcd1lg2 A T 19: 29,446,062 T169S possibly damaging Het
Plekha7 A T 7: 116,135,184 M1006K probably damaging Het
Rgs6 A T 12: 83,051,323 I94F probably benign Het
Rims2 A T 15: 39,506,984 D938V probably damaging Het
Slc4a8 A G 15: 100,807,438 T842A possibly damaging Het
Spata21 C A 4: 141,111,364 probably null Het
Stk32a C T 18: 43,310,445 T229I possibly damaging Het
Trim33 C T 3: 103,330,182 P185S probably benign Het
Tspoap1 A G 11: 87,777,821 probably null Het
Vcan A G 13: 89,692,319 V742A probably benign Het
Vrtn A T 12: 84,649,063 I196F probably benign Het
Wasf1 A T 10: 40,920,297 I8F probably damaging Het
Ythdc2 A G 18: 44,847,812 I491M probably damaging Het
Zfp292 T C 4: 34,809,775 T1095A possibly damaging Het
Other mutations in Papd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0079:Papd5 UTSW 8 88200003 missense possibly damaging 0.86
R0158:Papd5 UTSW 8 88250743 missense probably damaging 1.00
R1175:Papd5 UTSW 8 88252007 missense probably damaging 1.00
R1351:Papd5 UTSW 8 88200374 nonsense probably null
R1381:Papd5 UTSW 8 88243309 missense possibly damaging 0.95
R1541:Papd5 UTSW 8 88245599 missense probably damaging 1.00
R1801:Papd5 UTSW 8 88250788 missense probably benign 0.25
R1994:Papd5 UTSW 8 88246484 missense probably damaging 1.00
R2013:Papd5 UTSW 8 88245595 splice site probably null
R2290:Papd5 UTSW 8 88251975 missense probably damaging 1.00
R3791:Papd5 UTSW 8 88243329 missense probably damaging 1.00
R3845:Papd5 UTSW 8 88250664 missense possibly damaging 0.60
R3886:Papd5 UTSW 8 88200415 missense probably benign 0.03
R5041:Papd5 UTSW 8 88255250 small deletion probably benign
R5253:Papd5 UTSW 8 88200023 missense possibly damaging 0.63
R6881:Papd5 UTSW 8 88250788 missense possibly damaging 0.91
R7792:Papd5 UTSW 8 88252554 missense probably benign
X0024:Papd5 UTSW 8 88246475 missense probably damaging 1.00
Posted On2012-04-20