Incidental Mutation 'R7845:Mtpap'
| ID |
606586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtpap
|
| Ensembl Gene |
ENSMUSG00000024234 |
| Gene Name |
mitochondrial poly(A) polymerase |
| Synonyms |
0610027A18Rik, Tent6, Papd1 |
| MMRRC Submission |
045899-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7845 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4375592-4397330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4387134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 395
(S395T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025077]
|
| AlphaFold |
Q9D0D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025077
AA Change: S395T
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025077
Gene: ENSMUSG00000024234
AA Change: S395T
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (43/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,229 (GRCm39) |
H483R |
probably damaging |
Het |
| Acot2 |
G |
T |
12: 84,039,762 (GRCm39) |
G424* |
probably null |
Het |
| Adat2 |
G |
T |
10: 13,428,741 (GRCm39) |
|
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,436,959 (GRCm39) |
Y250H |
probably damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,308 (GRCm39) |
Y157C |
unknown |
Het |
| Bglap2 |
T |
A |
3: 88,286,001 (GRCm39) |
|
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,535,734 (GRCm39) |
L495P |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,315,139 (GRCm39) |
D275G |
probably benign |
Het |
| Cpne2 |
A |
G |
8: 95,277,832 (GRCm39) |
N72S |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,977 (GRCm39) |
F628S |
probably damaging |
Het |
| Dars2 |
A |
T |
1: 160,869,318 (GRCm39) |
S644T |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,061,259 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
G |
13: 9,659,080 (GRCm39) |
S860G |
probably damaging |
Het |
| Dnajc21 |
T |
G |
15: 10,447,227 (GRCm39) |
H507P |
probably damaging |
Het |
| Eif2ak2 |
G |
T |
17: 79,171,327 (GRCm39) |
Q359K |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,663,712 (GRCm39) |
E448G |
probably benign |
Het |
| Exoc3l |
G |
C |
8: 106,016,782 (GRCm39) |
S677R |
probably damaging |
Het |
| Fads1 |
T |
A |
19: 10,171,405 (GRCm39) |
H345Q |
probably damaging |
Het |
| Fam118a |
T |
A |
15: 84,930,052 (GRCm39) |
D93E |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,068,738 (GRCm39) |
I710M |
probably benign |
Het |
| Fbxw14 |
T |
A |
9: 109,116,671 (GRCm39) |
I13F |
probably damaging |
Het |
| Gemin6 |
A |
G |
17: 80,533,090 (GRCm39) |
S8G |
probably benign |
Het |
| Ints2 |
A |
T |
11: 86,129,089 (GRCm39) |
M498K |
possibly damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mast1 |
C |
A |
8: 85,651,954 (GRCm39) |
E343* |
probably null |
Het |
| Micu1 |
T |
C |
10: 59,675,607 (GRCm39) |
|
probably null |
Het |
| Mis18bp1 |
A |
G |
12: 65,196,102 (GRCm39) |
I554T |
probably benign |
Het |
| Mrps28 |
T |
A |
3: 8,988,775 (GRCm39) |
N28Y |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,552,069 (GRCm39) |
H4741Q |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or13p8 |
T |
C |
4: 118,584,158 (GRCm39) |
M238T |
probably benign |
Het |
| Or4k44 |
C |
A |
2: 111,368,512 (GRCm39) |
G41* |
probably null |
Het |
| Or51f23 |
G |
A |
7: 102,453,492 (GRCm39) |
R269Q |
not run |
Het |
| Ptx4 |
T |
C |
17: 25,343,928 (GRCm39) |
Y393H |
possibly damaging |
Het |
| Ranbp2 |
G |
A |
10: 58,282,844 (GRCm39) |
V15M |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,678,421 (GRCm39) |
A790S |
probably benign |
Het |
| Rfx6 |
T |
A |
10: 51,554,122 (GRCm39) |
S73T |
probably benign |
Het |
| Sec14l3 |
T |
A |
11: 4,017,972 (GRCm39) |
M84K |
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,401,316 (GRCm39) |
V59E |
possibly damaging |
Het |
| Slc2a1 |
T |
C |
4: 118,993,125 (GRCm39) |
V425A |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,832,758 (GRCm39) |
V89D |
probably benign |
Het |
| Stra8 |
A |
G |
6: 34,907,899 (GRCm39) |
D117G |
probably benign |
Het |
| Syt17 |
A |
T |
7: 118,009,194 (GRCm39) |
I338N |
possibly damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,833 (GRCm39) |
Y98F |
probably benign |
Het |
| Tsks |
C |
A |
7: 44,603,168 (GRCm39) |
|
probably null |
Het |
| Wdr62 |
A |
G |
7: 29,964,667 (GRCm39) |
V359A |
possibly damaging |
Het |
| Xrcc6 |
T |
C |
15: 81,900,678 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GCTTTGAAAAGTTCCGAACTCC -3'
(R):5'- CTGATGGTGAAAACATACACACAGC -3'
Sequencing Primer
(F):5'- GTTCCGAACTCCTTTATATATATGGC -3'
(R):5'- CACAGCACTTACAATTTGGAATCAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation