Incidental Mutation 'R0031:Mtpap'
| ID |
18628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtpap
|
| Ensembl Gene |
ENSMUSG00000024234 |
| Gene Name |
mitochondrial poly(A) polymerase |
| Synonyms |
0610027A18Rik, Tent6, Papd1 |
| MMRRC Submission |
038325-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0031 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4375592-4397330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4383244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 207
(I207N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025077]
|
| AlphaFold |
Q9D0D3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025077
AA Change: I207N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025077
Gene: ENSMUSG00000024234
AA Change: I207N
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 81.0%
- 3x: 73.5%
- 10x: 52.2%
- 20x: 32.1%
|
| Validation Efficiency |
93% (95/102) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
G |
A |
2: 69,115,652 (GRCm39) |
R571C |
probably damaging |
Het |
| Agr3 |
T |
C |
12: 35,997,590 (GRCm39) |
M100T |
probably benign |
Het |
| Ankrd7 |
T |
A |
6: 18,870,007 (GRCm39) |
Y253* |
probably null |
Het |
| Atp2c2 |
A |
T |
8: 120,475,801 (GRCm39) |
T565S |
probably benign |
Het |
| Ccdc88b |
G |
T |
19: 6,831,151 (GRCm39) |
S597Y |
possibly damaging |
Het |
| Celsr2 |
T |
C |
3: 108,320,379 (GRCm39) |
N811S |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,583,657 (GRCm39) |
D907E |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,736 (GRCm39) |
S812F |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cmss1 |
T |
G |
16: 57,131,612 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
C |
11: 12,204,945 (GRCm39) |
T579A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csrp2 |
C |
T |
10: 110,774,601 (GRCm39) |
S172L |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,717,770 (GRCm39) |
S235P |
probably damaging |
Het |
| Gbgt1 |
T |
A |
2: 28,388,462 (GRCm39) |
|
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,696,125 (GRCm39) |
I173T |
probably benign |
Het |
| Gucy2c |
T |
A |
6: 136,674,997 (GRCm39) |
I1005F |
probably damaging |
Het |
| Irak3 |
T |
A |
10: 120,012,225 (GRCm39) |
K88* |
probably null |
Het |
| Klc1 |
T |
C |
12: 111,743,467 (GRCm39) |
Y265H |
probably damaging |
Het |
| Lamb1 |
G |
A |
12: 31,351,155 (GRCm39) |
V754I |
probably benign |
Het |
| Lrguk |
A |
T |
6: 34,020,431 (GRCm39) |
Q58H |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,882,741 (GRCm39) |
D2902G |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,643,901 (GRCm39) |
|
probably null |
Het |
| Nup160 |
A |
G |
2: 90,547,931 (GRCm39) |
|
probably null |
Het |
| Ormdl1 |
A |
G |
1: 53,338,318 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
G |
3: 122,596,704 (GRCm39) |
M432V |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,255,088 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,545,942 (GRCm39) |
V581A |
probably benign |
Het |
| Plpp6 |
T |
A |
19: 28,942,243 (GRCm39) |
N281K |
probably benign |
Het |
| Pwp1 |
T |
C |
10: 85,721,760 (GRCm39) |
I422T |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,367,103 (GRCm39) |
N1199S |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,899,726 (GRCm39) |
L406P |
probably damaging |
Het |
| Senp6 |
C |
T |
9: 80,033,525 (GRCm39) |
P84L |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,066,941 (GRCm39) |
I2361V |
probably benign |
Het |
| Slc25a12 |
C |
T |
2: 71,163,958 (GRCm39) |
V106M |
possibly damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,340,274 (GRCm39) |
Y232C |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,973,712 (GRCm39) |
K1015M |
probably damaging |
Het |
| Taf1c |
A |
T |
8: 120,325,829 (GRCm39) |
C678S |
probably benign |
Het |
| Tcp11l2 |
G |
T |
10: 84,427,004 (GRCm39) |
C156F |
probably damaging |
Het |
| Tmem62 |
A |
G |
2: 120,829,594 (GRCm39) |
T316A |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,102,048 (GRCm39) |
I10T |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,262,899 (GRCm39) |
I824T |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,037,161 (GRCm39) |
V2042E |
probably damaging |
Het |
| Wfdc6b |
A |
T |
2: 164,455,779 (GRCm39) |
E36V |
probably damaging |
Het |
| Xpc |
C |
T |
6: 91,468,208 (GRCm39) |
A860T |
probably benign |
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 |
|
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 |
2013-03-25 |
Incidental Mutation