Incidental Mutation 'R9194:Mtpap'
ID |
697884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtpap
|
Ensembl Gene |
ENSMUSG00000024234 |
Gene Name |
mitochondrial poly(A) polymerase |
Synonyms |
0610027A18Rik, Tent6, Papd1 |
MMRRC Submission |
068953-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9194 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
4375592-4397330 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 4380834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 171
(Q171*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025077
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025077]
|
AlphaFold |
Q9D0D3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025077
AA Change: Q171*
|
SMART Domains |
Protein: ENSMUSP00000025077 Gene: ENSMUSG00000024234 AA Change: Q171*
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
94% (44/47) |
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 |
1700017B05Rik |
A |
T |
9: 57,166,371 (GRCm39) |
M1K |
probably null |
Het |
Adra1b |
A |
T |
11: 43,726,263 (GRCm39) |
V218D |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,606,255 (GRCm39) |
S1216G |
possibly damaging |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cfap44 |
G |
T |
16: 44,288,824 (GRCm39) |
D1525Y |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,439,650 (GRCm39) |
M2341K |
probably benign |
Het |
Chst11 |
A |
G |
10: 83,027,319 (GRCm39) |
T249A |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,434,850 (GRCm39) |
V336A |
probably benign |
Het |
Dennd3 |
T |
C |
15: 73,419,153 (GRCm39) |
L648P |
probably benign |
Het |
Dhx16 |
T |
C |
17: 36,200,173 (GRCm39) |
V864A |
probably benign |
Het |
Enpp3 |
G |
A |
10: 24,675,092 (GRCm39) |
H362Y |
possibly damaging |
Het |
Ess2 |
A |
T |
16: 17,728,028 (GRCm39) |
D79E |
probably damaging |
Het |
Fam83c |
T |
A |
2: 155,671,299 (GRCm39) |
Y712F |
probably damaging |
Het |
Helz |
C |
T |
11: 107,561,113 (GRCm39) |
Q1392* |
probably null |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Iqch |
T |
C |
9: 63,479,961 (GRCm39) |
H143R |
probably benign |
Het |
Itgb5 |
A |
G |
16: 33,720,881 (GRCm39) |
D315G |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,236,174 (GRCm39) |
K141R |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,391,676 (GRCm39) |
P1250S |
probably benign |
Het |
Mcm5 |
T |
G |
8: 75,836,962 (GRCm39) |
V110G |
probably damaging |
Het |
Med27 |
G |
A |
2: 29,361,312 (GRCm39) |
D163N |
probably damaging |
Het |
Mms22l |
C |
A |
4: 24,600,185 (GRCm39) |
Y1129* |
probably null |
Het |
Mov10l1 |
G |
A |
15: 88,931,023 (GRCm39) |
R1081H |
probably damaging |
Het |
Myo6 |
T |
A |
9: 80,153,836 (GRCm39) |
F271I |
unknown |
Het |
Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
Nfatc1 |
C |
T |
18: 80,751,258 (GRCm39) |
A26T |
probably benign |
Het |
Or7d11 |
C |
A |
9: 19,966,543 (GRCm39) |
C72F |
probably damaging |
Het |
Piezo2 |
G |
C |
18: 63,250,815 (GRCm39) |
T428S |
probably benign |
Het |
Prkch |
A |
G |
12: 73,768,616 (GRCm39) |
E462G |
probably damaging |
Het |
Rbm20 |
A |
G |
19: 53,823,131 (GRCm39) |
Y576C |
probably damaging |
Het |
Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
Rpp40 |
C |
T |
13: 36,080,898 (GRCm39) |
D302N |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,615,969 (GRCm39) |
V631A |
probably damaging |
Het |
Sstr2 |
A |
G |
11: 113,515,203 (GRCm39) |
T41A |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,843,371 (GRCm39) |
V861E |
possibly damaging |
Het |
Tomm70a |
A |
G |
16: 56,973,070 (GRCm39) |
K603E |
possibly damaging |
Het |
Tpd52l2 |
T |
A |
2: 181,141,683 (GRCm39) |
M22K |
possibly damaging |
Het |
Tpst1 |
T |
A |
5: 130,130,860 (GRCm39) |
L110Q |
possibly damaging |
Het |
Tram1l1 |
A |
G |
3: 124,115,137 (GRCm39) |
Y99C |
possibly damaging |
Het |
Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
Ubr1 |
A |
G |
2: 120,778,325 (GRCm39) |
Y238H |
probably damaging |
Het |
Vmn1r202 |
G |
T |
13: 22,686,316 (GRCm39) |
H34N |
possibly damaging |
Het |
Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
Xpnpep1 |
A |
T |
19: 53,000,289 (GRCm39) |
V187E |
possibly damaging |
Het |
Zfp592 |
A |
G |
7: 80,674,349 (GRCm39) |
I438V |
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 |
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 |
4,380,833 (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'- TCATACAGGGTCTCTTTGCTG -3'
(R):5'- GGTACCACAACTTTTATAATGCACAGC -3'
Sequencing Primer
(F):5'- GCTGTTGTAGAATTTTGCCAAAAAG -3'
(R):5'- AGAGAAACCCTGTCTCGA -3'
|
Posted On |
2022-02-07 |