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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |