Incidental Mutation 'R9194:Mtpap'
ID 697884
Institutional Source Beutler Lab
Gene Symbol Mtpap
Ensembl Gene ENSMUSG00000024234
Gene Name mitochondrial poly(A) polymerase
Synonyms 0610027A18Rik, Tent6, Papd1
MMRRC Submission 068953-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9194 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 4375592-4397330 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 4380834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 171 (Q171*)
Ref Sequence ENSEMBL: ENSMUSP00000025077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025077]
AlphaFold Q9D0D3
Predicted Effect probably null
Transcript: ENSMUST00000025077
AA Change: Q171*
SMART Domains Protein: ENSMUSP00000025077
Gene: ENSMUSG00000024234
AA Change: Q171*

DomainStartEndE-ValueType
PDB:3PQ1|B 44 528 N/A PDB
SCOP:d1f5aa2 187 523 1e-35 SMART
low complexity region 529 538 N/A INTRINSIC
low complexity region 547 558 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
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 member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,166,371 (GRCm39) M1K probably null Het
Adra1b A T 11: 43,726,263 (GRCm39) V218D probably damaging Het
Ank1 A G 8: 23,606,255 (GRCm39) S1216G possibly damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cfap44 G T 16: 44,288,824 (GRCm39) D1525Y probably damaging Het
Chd8 A T 14: 52,439,650 (GRCm39) M2341K probably benign Het
Chst11 A G 10: 83,027,319 (GRCm39) T249A probably damaging Het
Cttnbp2 A G 6: 18,434,850 (GRCm39) V336A probably benign Het
Dennd3 T C 15: 73,419,153 (GRCm39) L648P probably benign Het
Dhx16 T C 17: 36,200,173 (GRCm39) V864A probably benign Het
Enpp3 G A 10: 24,675,092 (GRCm39) H362Y possibly damaging Het
Ess2 A T 16: 17,728,028 (GRCm39) D79E probably damaging Het
Fam83c T A 2: 155,671,299 (GRCm39) Y712F probably damaging Het
Helz C T 11: 107,561,113 (GRCm39) Q1392* probably null Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Iqch T C 9: 63,479,961 (GRCm39) H143R probably benign Het
Itgb5 A G 16: 33,720,881 (GRCm39) D315G probably damaging Het
Kcnmb2 A G 3: 32,236,174 (GRCm39) K141R probably benign Het
Lrrc37a G A 11: 103,391,676 (GRCm39) P1250S probably benign Het
Mcm5 T G 8: 75,836,962 (GRCm39) V110G probably damaging Het
Med27 G A 2: 29,361,312 (GRCm39) D163N probably damaging Het
Mms22l C A 4: 24,600,185 (GRCm39) Y1129* probably null Het
Mov10l1 G A 15: 88,931,023 (GRCm39) R1081H probably damaging Het
Myo6 T A 9: 80,153,836 (GRCm39) F271I unknown Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Nfatc1 C T 18: 80,751,258 (GRCm39) A26T probably benign Het
Or7d11 C A 9: 19,966,543 (GRCm39) C72F probably damaging Het
Piezo2 G C 18: 63,250,815 (GRCm39) T428S probably benign Het
Prkch A G 12: 73,768,616 (GRCm39) E462G probably damaging Het
Rbm20 A G 19: 53,823,131 (GRCm39) Y576C probably damaging Het
Riok3 TTTCATT TTT 18: 12,282,642 (GRCm39) probably null Het
Rpp40 C T 13: 36,080,898 (GRCm39) D302N probably benign Het
Sash1 A G 10: 8,615,969 (GRCm39) V631A probably damaging Het
Sstr2 A G 11: 113,515,203 (GRCm39) T41A probably benign Het
Thsd7b T A 1: 129,843,371 (GRCm39) V861E possibly damaging Het
Tomm70a A G 16: 56,973,070 (GRCm39) K603E possibly damaging Het
Tpd52l2 T A 2: 181,141,683 (GRCm39) M22K possibly damaging Het
Tpst1 T A 5: 130,130,860 (GRCm39) L110Q possibly damaging Het
Tram1l1 A G 3: 124,115,137 (GRCm39) Y99C possibly damaging Het
Ttc39b A G 4: 83,181,977 (GRCm39) F81L possibly damaging Het
Ubr1 A G 2: 120,778,325 (GRCm39) Y238H probably damaging Het
Vmn1r202 G T 13: 22,686,316 (GRCm39) H34N possibly damaging Het
Vmn1r36 G A 6: 66,693,036 (GRCm39) Q280* probably null Het
Xpnpep1 A T 19: 53,000,289 (GRCm39) V187E possibly damaging Het
Zfp592 A G 7: 80,674,349 (GRCm39) I438V probably benign Het
Other mutations in Mtpap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Mtpap APN 18 4,379,670 (GRCm39) missense probably damaging 0.99
IGL00848:Mtpap APN 18 4,380,717 (GRCm39) missense probably benign 0.00
IGL02659:Mtpap APN 18 4,380,703 (GRCm39) nonsense probably null
IGL02828:Mtpap APN 18 4,386,207 (GRCm39) missense probably damaging 0.99
IGL03006:Mtpap APN 18 4,375,721 (GRCm39) missense possibly damaging 0.49
R0031:Mtpap UTSW 18 4,383,244 (GRCm39) missense probably damaging 0.96
R0350:Mtpap UTSW 18 4,396,195 (GRCm39) missense possibly damaging 0.91
R3787:Mtpap UTSW 18 4,380,670 (GRCm39) missense probably damaging 1.00
R4381:Mtpap UTSW 18 4,383,223 (GRCm39) missense probably benign 0.04
R4698:Mtpap UTSW 18 4,375,724 (GRCm39) missense possibly damaging 0.59
R4717:Mtpap UTSW 18 4,396,394 (GRCm39) missense possibly damaging 0.82
R4850:Mtpap UTSW 18 4,387,044 (GRCm39) missense probably damaging 1.00
R4963:Mtpap UTSW 18 4,375,638 (GRCm39) missense probably benign 0.05
R4982:Mtpap UTSW 18 4,396,332 (GRCm39) missense probably benign 0.01
R5059:Mtpap UTSW 18 4,375,827 (GRCm39) intron probably benign
R5311:Mtpap UTSW 18 4,386,328 (GRCm39) missense probably damaging 1.00
R5600:Mtpap UTSW 18 4,379,674 (GRCm39) missense probably damaging 1.00
R5713:Mtpap UTSW 18 4,396,280 (GRCm39) missense probably benign 0.00
R6312:Mtpap UTSW 18 4,396,175 (GRCm39) missense possibly damaging 0.89
R7006:Mtpap UTSW 18 4,380,873 (GRCm39) missense possibly damaging 0.63
R7059:Mtpap UTSW 18 4,396,202 (GRCm39) missense probably damaging 1.00
R7117:Mtpap UTSW 18 4,380,889 (GRCm39) critical splice donor site probably null
R7286:Mtpap UTSW 18 4,387,068 (GRCm39) missense probably benign 0.20
R7452:Mtpap UTSW 18 4,379,705 (GRCm39) missense possibly damaging 0.75
R7845:Mtpap UTSW 18 4,387,134 (GRCm39) missense possibly damaging 0.56
R7868:Mtpap UTSW 18 4,380,673 (GRCm39) missense probably damaging 1.00
R8390:Mtpap UTSW 18 4,396,141 (GRCm39) missense probably damaging 0.99
R8774:Mtpap UTSW 18 4,387,032 (GRCm39) nonsense probably null
R8774-TAIL:Mtpap UTSW 18 4,387,032 (GRCm39) nonsense probably null
R9001:Mtpap UTSW 18 4,380,831 (GRCm39) missense probably benign 0.00
R9194:Mtpap UTSW 18 4,380,833 (GRCm39) missense probably benign 0.00
R9238:Mtpap UTSW 18 4,396,439 (GRCm39) missense probably damaging 1.00
X0025:Mtpap UTSW 18 4,375,710 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATACAGGGTCTCTTTGCTG -3'
(R):5'- GGTACCACAACTTTTATAATGCACAGC -3'

Sequencing Primer
(F):5'- GCTGTTGTAGAATTTTGCCAAAAAG -3'
(R):5'- AGAGAAACCCTGTCTCGA -3'
Posted On 2022-02-07