Incidental Mutation 'R5311:Mtpap'
ID |
404874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtpap
|
Ensembl Gene |
ENSMUSG00000024234 |
Gene Name |
mitochondrial poly(A) polymerase |
Synonyms |
0610027A18Rik, Tent6, Papd1 |
MMRRC Submission |
042894-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5311 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
4375592-4397330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4386328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 316
(V316E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025077
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025077]
|
AlphaFold |
Q9D0D3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025077
AA Change: V316E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025077 Gene: ENSMUSG00000024234 AA Change: V316E
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5z1 |
A |
G |
5: 142,453,442 (GRCm39) |
K137E |
possibly damaging |
Het |
Atm |
A |
C |
9: 53,429,923 (GRCm39) |
V371G |
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 29,068,987 (GRCm39) |
Y247H |
probably damaging |
Het |
Ccdc180 |
T |
C |
4: 45,917,556 (GRCm39) |
V927A |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Edar |
G |
A |
10: 58,443,257 (GRCm39) |
P290S |
possibly damaging |
Het |
Ext2 |
T |
C |
2: 93,526,606 (GRCm39) |
I677V |
probably benign |
Het |
Fam53a |
A |
G |
5: 33,765,080 (GRCm39) |
S209P |
probably damaging |
Het |
Fshr |
A |
T |
17: 89,318,441 (GRCm39) |
|
probably null |
Het |
Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
Gm14295 |
A |
T |
2: 176,502,465 (GRCm39) |
I652L |
probably benign |
Het |
Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
T |
A |
11: 48,779,716 (GRCm39) |
E402V |
probably damaging |
Het |
Gm6899 |
GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC |
GGAGGCCGCCCAGTGGCAGAGGC |
11: 26,543,725 (GRCm39) |
|
probably null |
Het |
Itih2 |
T |
C |
2: 10,115,346 (GRCm39) |
D342G |
probably benign |
Het |
Lgi2 |
A |
T |
5: 52,711,827 (GRCm39) |
D164E |
probably damaging |
Het |
Lrriq1 |
A |
G |
10: 103,050,448 (GRCm39) |
I768T |
probably damaging |
Het |
Map1a |
C |
A |
2: 121,132,868 (GRCm39) |
A990E |
probably damaging |
Het |
Mdh1b |
A |
G |
1: 63,759,163 (GRCm39) |
V143A |
probably benign |
Het |
Mrgprb3 |
C |
T |
7: 48,293,059 (GRCm39) |
C164Y |
probably damaging |
Het |
Mybpc3 |
T |
A |
2: 90,959,023 (GRCm39) |
C655* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,986,204 (GRCm39) |
E1558G |
possibly damaging |
Het |
Mylk |
A |
G |
16: 34,742,127 (GRCm39) |
T880A |
probably benign |
Het |
Nckap1 |
T |
A |
2: 80,370,466 (GRCm39) |
D408V |
probably damaging |
Het |
Nos3 |
A |
T |
5: 24,582,343 (GRCm39) |
H605L |
probably benign |
Het |
Nrxn2 |
C |
A |
19: 6,581,428 (GRCm39) |
D411E |
probably benign |
Het |
Or1af1 |
T |
C |
2: 37,109,633 (GRCm39) |
V44A |
probably benign |
Het |
Or8j3b |
T |
A |
2: 86,205,094 (GRCm39) |
I221L |
possibly damaging |
Het |
Pde4d |
C |
A |
13: 109,769,398 (GRCm39) |
P29T |
probably benign |
Het |
Pde4d |
C |
T |
13: 109,769,399 (GRCm39) |
P29L |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,636,094 (GRCm39) |
V412A |
possibly damaging |
Het |
Rev1 |
T |
A |
1: 38,118,474 (GRCm39) |
I480L |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,028,708 (GRCm39) |
T711A |
probably benign |
Het |
RP23-191E1.1 |
T |
A |
3: 106,204,784 (GRCm39) |
|
noncoding transcript |
Het |
Serpina11 |
A |
T |
12: 103,952,221 (GRCm39) |
I183N |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,921,236 (GRCm39) |
H645R |
probably damaging |
Het |
Skint7 |
G |
A |
4: 111,837,501 (GRCm39) |
R93H |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,894,910 (GRCm39) |
E632G |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
Trps1 |
G |
A |
15: 50,528,156 (GRCm39) |
T658I |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,438,691 (GRCm39) |
T287A |
probably damaging |
Het |
Ugt2b35 |
G |
A |
5: 87,159,139 (GRCm39) |
W444* |
probably null |
Het |
Vmn1r219 |
T |
A |
13: 23,347,063 (GRCm39) |
V84D |
probably damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,154,121 (GRCm39) |
Y61C |
probably damaging |
Het |
Vmn2r104 |
G |
A |
17: 20,250,163 (GRCm39) |
P703S |
probably damaging |
Het |
Wdsub1 |
T |
A |
2: 59,708,873 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
A |
G |
7: 6,308,715 (GRCm39) |
Q461R |
probably benign |
Het |
Zfp941 |
C |
A |
7: 140,391,872 (GRCm39) |
G496* |
probably null |
Het |
|
Other mutations in Mtpap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCATGTGTCTCAGTACTGC -3'
(R):5'- ACCAGCTATGCATTCCCAATATTC -3'
Sequencing Primer
(F):5'- GGTTTGGCCAGAAGTTATTTATACTC -3'
(R):5'- GTGCCATTACACCCCATTTAGTGAG -3'
|
Posted On |
2016-07-22 |