Incidental Mutation 'IGL00705:Mtpap'
ID 12124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtpap
Ensembl Gene ENSMUSG00000024234
Gene Name mitochondrial poly(A) polymerase
Synonyms 0610027A18Rik, Tent6, Papd1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00705
Quality Score
Status
Chromosome 18
Chromosomal Location 4375592-4397330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4379670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 87 (N87H)
Ref Sequence ENSEMBL: ENSMUSP00000025077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025077]
AlphaFold Q9D0D3
Predicted Effect probably damaging
Transcript: ENSMUST00000025077
AA Change: N87H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025077
Gene: ENSMUSG00000024234
AA Change: N87H

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh8 T A 9: 3,359,588 (GRCm39) H257Q probably damaging Het
Arap2 A T 5: 62,835,366 (GRCm39) H725Q probably damaging Het
Asnsd1 A T 1: 53,387,610 (GRCm39) C6S probably damaging Het
Bptf T C 11: 106,986,534 (GRCm39) probably benign Het
Cep112 C A 11: 108,362,859 (GRCm39) T193K probably benign Het
Fgfr3 A G 5: 33,892,484 (GRCm39) I720V possibly damaging Het
Grid1 T A 14: 35,167,844 (GRCm39) I456N possibly damaging Het
Limch1 A T 5: 67,150,496 (GRCm39) R169* probably null Het
Mroh9 A G 1: 162,907,072 (GRCm39) S17P probably damaging Het
Nudt17 A G 3: 96,614,516 (GRCm39) probably null Het
Obox6 A T 7: 15,567,662 (GRCm39) S262T probably damaging Het
Rb1cc1 T A 1: 6,314,357 (GRCm39) M343K probably benign Het
Rufy3 A G 5: 88,769,209 (GRCm39) I226V probably damaging Het
Tex15 C A 8: 34,071,620 (GRCm39) P2389Q probably damaging Het
Urb2 T A 8: 124,763,376 (GRCm39) V1266D probably benign Het
Usp17ld G A 7: 102,899,645 (GRCm39) T429I probably benign Het
Zfp110 A G 7: 12,583,086 (GRCm39) H578R probably benign Het
Zfp318 T A 17: 46,723,398 (GRCm39) S1800R probably benign Het
Zfp638 A G 6: 83,954,112 (GRCm39) T1406A probably damaging Het
Other mutations in Mtpap
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 4,380,834 (GRCm39) nonsense probably null
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
Posted On 2012-12-06