Incidental Mutation 'IGL00848:Mtpap'
ID12126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtpap
Ensembl Gene ENSMUSG00000024234
Gene Namemitochondrial poly(A) polymerase
SynonymsPapd1, 0610027A18Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.890) question?
Stock #IGL00848
Quality Score
Status
Chromosome18
Chromosomal Location4375592-4397330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4380717 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 132 (H132Y)
Ref Sequence ENSEMBL: ENSMUSP00000025077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025077]
Predicted Effect probably benign
Transcript: ENSMUST00000025077
AA Change: H132Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025077
Gene: ENSMUSG00000024234
AA Change: H132Y

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180970
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 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cep112 A G 11: 108,472,060 D202G probably damaging Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Copz1 T A 15: 103,298,749 probably benign Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Glt8d2 C T 10: 82,662,165 probably null Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rhbdd1 T C 1: 82,340,444 L16P possibly damaging Het
Rps11 C T 7: 45,123,501 R22Q probably benign Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Vps45 G T 3: 96,056,973 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Zfp704 A T 3: 9,565,239 S21T possibly damaging Het
Other mutations in Mtpap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Mtpap APN 18 4379670 missense probably damaging 0.99
IGL02659:Mtpap APN 18 4380703 nonsense probably null
IGL02828:Mtpap APN 18 4386207 missense probably damaging 0.99
IGL03006:Mtpap APN 18 4375721 missense possibly damaging 0.49
R0031:Mtpap UTSW 18 4383244 missense probably damaging 0.96
R0350:Mtpap UTSW 18 4396195 missense possibly damaging 0.91
R3787:Mtpap UTSW 18 4380670 missense probably damaging 1.00
R4381:Mtpap UTSW 18 4383223 missense probably benign 0.04
R4698:Mtpap UTSW 18 4375724 missense possibly damaging 0.59
R4717:Mtpap UTSW 18 4396394 missense possibly damaging 0.82
R4850:Mtpap UTSW 18 4387044 missense probably damaging 1.00
R4963:Mtpap UTSW 18 4375638 missense probably benign 0.05
R4982:Mtpap UTSW 18 4396332 missense probably benign 0.01
R5059:Mtpap UTSW 18 4375827 intron probably benign
R5311:Mtpap UTSW 18 4386328 missense probably damaging 1.00
R5600:Mtpap UTSW 18 4379674 missense probably damaging 1.00
R5713:Mtpap UTSW 18 4396280 missense probably benign 0.00
R6312:Mtpap UTSW 18 4396175 missense possibly damaging 0.89
R7006:Mtpap UTSW 18 4380873 missense possibly damaging 0.63
R7059:Mtpap UTSW 18 4396202 missense probably damaging 1.00
R7117:Mtpap UTSW 18 4380889 critical splice donor site unknown
X0025:Mtpap UTSW 18 4375710 missense probably damaging 1.00
Posted On2012-12-06