Incidental Mutation 'R6348:Mepce'
| ID |
514438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mepce
|
| Ensembl Gene |
ENSMUSG00000029726 |
| Gene Name |
methylphosphate capping enzyme |
| Synonyms |
D5Wsu46e, Bcdin3 |
| MMRRC Submission |
044502-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137780168-137784963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137783698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 209
(D209E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031740]
[ENSMUST00000035852]
[ENSMUST00000196022]
|
| AlphaFold |
Q8K3A9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031740
AA Change: D209E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031740
Gene: ENSMUSG00000029726
AA Change: D209E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
376 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_23
|
398 |
623 |
2.7e-14 |
PFAM |
|
Pfam:PrmA
|
408 |
489 |
6.9e-6 |
PFAM |
|
Pfam:Methyltransf_31
|
419 |
480 |
9.3e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
420 |
595 |
1.8e-13 |
PFAM |
|
Pfam:Bin3
|
552 |
660 |
4.2e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035852
|
| SMART Domains |
Protein: ENSMUSP00000048730
Gene: ENSMUSG00000037108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CW
|
246 |
293 |
7.3e-18 |
PFAM |
|
Pfam:PWWP
|
306 |
401 |
6.9e-22 |
PFAM |
|
coiled coil region
|
440 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132726
|
| SMART Domains |
Protein: ENSMUSP00000118688
Gene: ENSMUSG00000029726
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
33 |
99 |
8e-6 |
PFAM |
|
Pfam:Bin3
|
59 |
167 |
8.3e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196936
|
| Meta Mutation Damage Score |
0.1461 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
| Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
| Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
| Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
| Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
| Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
| Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
| Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
| Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
| Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
| Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
| Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
| Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
| Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
| Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
probably benign |
Het |
|
| Other mutations in Mepce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02205:Mepce
|
APN |
5 |
137,782,757 (GRCm39) |
missense |
probably benign |
0.14 |
|
Baden-powell
|
UTSW |
5 |
137,783,698 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Rushmore
|
UTSW |
5 |
137,781,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0254:Mepce
|
UTSW |
5 |
137,783,698 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0772:Mepce
|
UTSW |
5 |
137,783,574 (GRCm39) |
intron |
probably benign |
|
|
R1081:Mepce
|
UTSW |
5 |
137,782,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4588:Mepce
|
UTSW |
5 |
137,783,534 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4671:Mepce
|
UTSW |
5 |
137,784,905 (GRCm39) |
intron |
probably benign |
|
|
R4879:Mepce
|
UTSW |
5 |
137,783,544 (GRCm39) |
intron |
probably benign |
|
|
R5315:Mepce
|
UTSW |
5 |
137,780,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Mepce
|
UTSW |
5 |
137,784,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5341:Mepce
|
UTSW |
5 |
137,781,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5905:Mepce
|
UTSW |
5 |
137,782,982 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6339:Mepce
|
UTSW |
5 |
137,783,950 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6630:Mepce
|
UTSW |
5 |
137,783,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7056:Mepce
|
UTSW |
5 |
137,780,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Mepce
|
UTSW |
5 |
137,783,004 (GRCm39) |
nonsense |
probably null |
|
|
R8152:Mepce
|
UTSW |
5 |
137,782,935 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8390:Mepce
|
UTSW |
5 |
137,783,441 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8883:Mepce
|
UTSW |
5 |
137,784,779 (GRCm39) |
intron |
probably benign |
|
|
R9387:Mepce
|
UTSW |
5 |
137,783,322 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9513:Mepce
|
UTSW |
5 |
137,783,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9515:Mepce
|
UTSW |
5 |
137,783,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Mepce
|
UTSW |
5 |
137,784,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATAGGGTTGAGGGGCATC -3'
(R):5'- GCGACTCTGTGTTACCATCC -3'
Sequencing Primer
(F):5'- TGAGGGGCATCACGGTTC -3'
(R):5'- ATCCAATTTCCTTCTGGGGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation