Incidental Mutation 'R7006:Mtpap'
| ID |
544742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtpap
|
| Ensembl Gene |
ENSMUSG00000024234 |
| Gene Name |
mitochondrial poly(A) polymerase |
| Synonyms |
0610027A18Rik, Tent6, Papd1 |
| MMRRC Submission |
045011-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
4375592-4397330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 4380873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 184
(S184R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025077]
|
| AlphaFold |
Q9D0D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025077
AA Change: S184R
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025077
Gene: ENSMUSG00000024234
AA Change: S184R
| 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 |
|
| 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 |
|---|
| AAdacl4fm3 |
A |
G |
4: 144,447,853 (GRCm39) |
V41A |
probably benign |
Het |
| Adcy2 |
G |
A |
13: 69,036,139 (GRCm39) |
T174M |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,631,290 (GRCm39) |
I412N |
probably benign |
Het |
| AW146154 |
T |
C |
7: 41,130,648 (GRCm39) |
E156G |
possibly damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,005,700 (GRCm39) |
L267P |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,989,895 (GRCm39) |
E276G |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,102 (GRCm39) |
T459A |
probably benign |
Het |
| Ccdc196 |
T |
A |
12: 78,255,702 (GRCm39) |
*177R |
probably null |
Het |
| Cep72 |
G |
A |
13: 74,198,427 (GRCm39) |
Q311* |
probably null |
Het |
| Cir1 |
T |
C |
2: 73,140,834 (GRCm39) |
Q45R |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,261,127 (GRCm39) |
|
probably null |
Het |
| Crtap |
G |
T |
9: 114,215,391 (GRCm39) |
A166E |
probably damaging |
Het |
| Dipk1a |
A |
G |
5: 108,058,027 (GRCm39) |
V132A |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,360,188 (GRCm39) |
D288G |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
C |
A |
2: 52,998,266 (GRCm39) |
Q544K |
probably benign |
Het |
| Gpsm1 |
T |
C |
2: 26,212,572 (GRCm39) |
L72P |
probably damaging |
Het |
| Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
| Kcnq3 |
A |
C |
15: 65,892,165 (GRCm39) |
Y403* |
probably null |
Het |
| Kcp |
A |
C |
6: 29,499,169 (GRCm39) |
Y298D |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,625,526 (GRCm39) |
S599P |
probably damaging |
Het |
| Krt20 |
A |
T |
11: 99,328,587 (GRCm39) |
Y113N |
probably benign |
Het |
| Mcm8 |
T |
G |
2: 132,665,181 (GRCm39) |
V191G |
probably damaging |
Het |
| Msr1 |
T |
A |
8: 40,042,423 (GRCm39) |
D384V |
probably damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,167,731 (GRCm39) |
T1020M |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,573,259 (GRCm39) |
T66A |
probably benign |
Het |
| Or1o3 |
T |
A |
17: 37,573,625 (GRCm39) |
*310L |
probably null |
Het |
| Or4f14 |
C |
A |
2: 111,742,601 (GRCm39) |
V225L |
probably benign |
Het |
| Or8h10 |
G |
A |
2: 86,808,303 (GRCm39) |
T279I |
probably damaging |
Het |
| Or8k18 |
T |
A |
2: 86,085,572 (GRCm39) |
Q155L |
probably benign |
Het |
| Phf11d |
G |
T |
14: 59,590,823 (GRCm39) |
T178K |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,227,977 (GRCm39) |
K298E |
possibly damaging |
Het |
| Rab2b |
A |
T |
14: 52,503,690 (GRCm39) |
I144K |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,167,523 (GRCm39) |
D5G |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,926,663 (GRCm39) |
N983S |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,188 (GRCm39) |
V515A |
probably damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,947,361 (GRCm39) |
V108A |
possibly damaging |
Het |
| Tifab |
T |
C |
13: 56,324,059 (GRCm39) |
Y128C |
probably benign |
Het |
| Tmc6 |
G |
T |
11: 117,665,083 (GRCm39) |
R397S |
probably damaging |
Het |
| Tnpo3 |
C |
T |
6: 29,589,162 (GRCm39) |
A63T |
probably damaging |
Het |
| Trgc4 |
T |
A |
13: 19,528,995 (GRCm39) |
|
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,268,724 (GRCm39) |
C284F |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,267,441 (GRCm39) |
D319G |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,326,649 (GRCm39) |
W347R |
probably damaging |
Het |
| Zfp180 |
G |
T |
7: 23,804,537 (GRCm39) |
E319* |
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 |
|
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'- TCATACAGGGTCTCTTTGCTG -3'
(R):5'- GGTACCACAACTTTTATAATGCACAGC -3'
Sequencing Primer
(F):5'- GCTGTTGTAGAATTTTGCCAAAAAG -3'
(R):5'- GAGAAACCCTGTCTCGAA -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation