Incidental Mutation 'IGL03006:Mtpap'
| ID |
407541 |
| 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 # |
IGL03006
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
4375592-4397330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4375721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 34
(G34R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025077]
|
| AlphaFold |
Q9D0D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025077
AA Change: G34R
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025077
Gene: ENSMUSG00000024234
AA Change: G34R
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
A |
11: 109,718,671 (GRCm39) |
S21C |
probably damaging |
Het |
| 2210408I21Rik |
T |
C |
13: 77,471,891 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,259,421 (GRCm39) |
D340G |
probably benign |
Het |
| Adamts17 |
G |
T |
7: 66,728,095 (GRCm39) |
R879L |
possibly damaging |
Het |
| Adissp |
A |
C |
2: 130,993,634 (GRCm39) |
D22E |
probably damaging |
Het |
| Cacna1f |
C |
A |
X: 7,493,142 (GRCm39) |
T1275K |
probably damaging |
Het |
| Csmd2 |
T |
A |
4: 128,374,558 (GRCm39) |
|
probably benign |
Het |
| Dll1 |
C |
T |
17: 15,593,854 (GRCm39) |
R171Q |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,243,133 (GRCm39) |
D30V |
possibly damaging |
Het |
| Fam184a |
G |
A |
10: 53,574,793 (GRCm39) |
S216L |
probably damaging |
Het |
| Fbxo33 |
G |
A |
12: 59,251,105 (GRCm39) |
A470V |
probably benign |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,145 (GRCm39) |
S82R |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,861,019 (GRCm39) |
I221V |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,601,425 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
A |
G |
14: 75,051,060 (GRCm39) |
L359P |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,120,489 (GRCm39) |
T882A |
probably benign |
Het |
| Med12 |
C |
T |
X: 100,321,684 (GRCm39) |
R456W |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,521,253 (GRCm39) |
S267P |
probably damaging |
Het |
| Nf1 |
G |
A |
11: 79,436,257 (GRCm39) |
D1966N |
probably damaging |
Het |
| Nlrp9c |
G |
A |
7: 26,071,507 (GRCm39) |
T867I |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,335,596 (GRCm39) |
V941I |
probably benign |
Het |
| Or5k1b |
T |
A |
16: 58,581,511 (GRCm39) |
K9N |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,937 (GRCm39) |
I84V |
probably damaging |
Het |
| Polr3d |
T |
A |
14: 70,678,603 (GRCm39) |
|
probably null |
Het |
| Prkar2a |
G |
T |
9: 108,617,640 (GRCm39) |
V233L |
probably benign |
Het |
| Prl4a1 |
T |
C |
13: 28,207,359 (GRCm39) |
V211A |
probably damaging |
Het |
| Qpct |
T |
C |
17: 79,378,151 (GRCm39) |
V107A |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,079,031 (GRCm39) |
S1032P |
possibly damaging |
Het |
| Rims1 |
G |
T |
1: 22,367,178 (GRCm39) |
T1113K |
probably damaging |
Het |
| Rxra |
C |
T |
2: 27,649,657 (GRCm39) |
T454I |
probably damaging |
Het |
| S100z |
T |
C |
13: 95,615,127 (GRCm39) |
I13V |
probably damaging |
Het |
| Scp2 |
T |
C |
4: 107,948,477 (GRCm39) |
K167E |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,286,514 (GRCm39) |
E520G |
unknown |
Het |
| Slc28a2 |
G |
A |
2: 122,283,019 (GRCm39) |
V308M |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,060,873 (GRCm39) |
I451K |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,170,881 (GRCm39) |
D1040N |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,323 (GRCm39) |
D1575G |
probably damaging |
Het |
| Tll1 |
T |
A |
8: 64,527,251 (GRCm39) |
|
probably benign |
Het |
| Tsks |
A |
T |
7: 44,600,198 (GRCm39) |
|
probably benign |
Het |
| Ttc1 |
A |
T |
11: 43,636,147 (GRCm39) |
M32K |
probably benign |
Het |
| Txlnb |
C |
T |
10: 17,714,723 (GRCm39) |
A385V |
probably damaging |
Het |
| Zc4h2 |
T |
C |
X: 94,687,019 (GRCm39) |
H98R |
probably damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation