Incidental Mutation 'IGL02205:Mepce'
| ID |
284446 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mepce
|
| Ensembl Gene |
ENSMUSG00000029726 |
| Gene Name |
methylphosphate capping enzyme |
| Synonyms |
D5Wsu46e, Bcdin3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137780168-137784963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 137782757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 523
(T523K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031739]
[ENSMUST00000031740]
[ENSMUST00000035852]
[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 benign
Transcript: ENSMUST00000031740
AA Change: T523K
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031740
Gene: ENSMUSG00000029726
AA Change: T523K
| 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: ENSMUST00000126126
|
| SMART Domains |
Protein: ENSMUSP00000114480
Gene: ENSMUSG00000029725
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPP1R35_C
|
48 |
144 |
2.5e-32 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000152298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196022
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
probably damaging |
Het |
|
| Other mutations in Mepce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation