Incidental Mutation 'R5315:Mepce'
| ID |
405791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mepce
|
| Ensembl Gene |
ENSMUSG00000029726 |
| Gene Name |
methylphosphate capping enzyme |
| Synonyms |
D5Wsu46e, Bcdin3 |
| MMRRC Submission |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137780168-137784963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 137780955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 617
(I617S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031739]
[ENSMUST00000031740]
[ENSMUST00000196022]
[ENSMUST00000198929]
|
| AlphaFold |
Q8K3A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031739
|
| SMART Domains |
Protein: ENSMUSP00000031739
Gene: ENSMUSG00000029725
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
76 |
N/A |
INTRINSIC |
|
Pfam:PPP1R35_C
|
107 |
255 |
1.5e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031740
AA Change: I617S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031740
Gene: ENSMUSG00000029726
AA Change: I617S
| 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: ENSMUST00000126126
|
| SMART Domains |
Protein: ENSMUSP00000114480
Gene: ENSMUSG00000029725
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPP1R35_C
|
48 |
144 |
2.5e-32 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132726
AA Change: I123S
|
| SMART Domains |
Protein: ENSMUSP00000118688
Gene: ENSMUSG00000029726
AA Change: I123S
| 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 |
noncoding transcript
Transcript: ENSMUST00000152298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198929
|
| SMART Domains |
Protein: ENSMUSP00000143182
Gene: ENSMUSG00000029725
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
| Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
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 |
|
|
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 |
|
R6348:Mepce
|
UTSW |
5 |
137,783,698 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
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'- ACAAGTACACAGGACGCTG -3'
(R):5'- TTTGGGACTGGCTAAGCTGC -3'
Sequencing Primer
(F):5'- TACACAGGACGCTGGAAGCC -3'
(R):5'- TAAGCTGCTGGCCTGACCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation