Incidental Mutation 'IGL02426:Cmtr2'
| ID |
292903 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cmtr2
|
| Ensembl Gene |
ENSMUSG00000046441 |
| Gene Name |
cap methyltransferase 2 |
| Synonyms |
Ftsjd1, C730036L12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02426
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110942297-110951118 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110948322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 211
(M211V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056972]
[ENSMUST00000189685]
|
| AlphaFold |
Q8BWQ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056972
AA Change: M211V
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: M211V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FtsJ
|
110 |
320 |
1.7e-28 |
PFAM |
|
low complexity region
|
550 |
559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189685
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,157,675 (GRCm39) |
T1294M |
probably damaging |
Het |
| Bad |
A |
G |
19: 6,928,785 (GRCm39) |
S128G |
probably damaging |
Het |
| Casp9 |
T |
G |
4: 141,539,515 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,879,547 (GRCm39) |
K507R |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,767,987 (GRCm39) |
S182P |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,827 (GRCm39) |
Y136C |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,204,351 (GRCm39) |
K777* |
probably null |
Het |
| Cul9 |
T |
G |
17: 46,834,184 (GRCm39) |
T1253P |
possibly damaging |
Het |
| Dmd |
T |
A |
X: 83,892,342 (GRCm39) |
L3002H |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,015,979 (GRCm39) |
V421I |
probably benign |
Het |
| Eif4a2 |
A |
G |
16: 22,929,399 (GRCm39) |
I234V |
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,421,514 (GRCm39) |
M323V |
probably benign |
Het |
| Fam47c |
A |
G |
X: 77,781,943 (GRCm39) |
D175G |
probably benign |
Het |
| Gm14178 |
T |
C |
11: 99,638,341 (GRCm39) |
|
|
Het |
| Hes3 |
T |
C |
4: 152,371,397 (GRCm39) |
N184S |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,112,549 (GRCm39) |
E45G |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,135,126 (GRCm39) |
K33E |
probably benign |
Het |
| Or2a52 |
A |
C |
6: 43,144,022 (GRCm39) |
D10A |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,158,920 (GRCm39) |
D52V |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,394,883 (GRCm39) |
I302K |
probably benign |
Het |
| Or52n4b |
A |
G |
7: 108,144,187 (GRCm39) |
T150A |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,196,296 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,448,120 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,290,771 (GRCm39) |
T1197A |
possibly damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,944 (GRCm39) |
I638V |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,693,229 (GRCm39) |
D83G |
possibly damaging |
Het |
| Rtl9 |
T |
C |
X: 141,886,098 (GRCm39) |
V1170A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,731,250 (GRCm39) |
S687P |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,797,981 (GRCm39) |
T201A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,442,320 (GRCm39) |
R420L |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,742,372 (GRCm39) |
S385N |
possibly damaging |
Het |
| Tomm34 |
A |
T |
2: 163,906,875 (GRCm39) |
V106D |
probably damaging |
Het |
| Tubal3 |
T |
C |
13: 3,982,750 (GRCm39) |
S177P |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,190,374 (GRCm39) |
A101T |
probably damaging |
Het |
|
| Other mutations in Cmtr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Cmtr2
|
APN |
8 |
110,949,732 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01068:Cmtr2
|
APN |
8 |
110,949,501 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01286:Cmtr2
|
APN |
8 |
110,949,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01916:Cmtr2
|
APN |
8 |
110,948,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02302:Cmtr2
|
APN |
8 |
110,948,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02903:Cmtr2
|
APN |
8 |
110,949,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4362001:Cmtr2
|
UTSW |
8 |
110,948,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1435:Cmtr2
|
UTSW |
8 |
110,947,711 (GRCm39) |
missense |
probably benign |
|
|
R1501:Cmtr2
|
UTSW |
8 |
110,948,235 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1512:Cmtr2
|
UTSW |
8 |
110,949,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1709:Cmtr2
|
UTSW |
8 |
110,948,581 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1715:Cmtr2
|
UTSW |
8 |
110,949,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Cmtr2
|
UTSW |
8 |
110,948,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Cmtr2
|
UTSW |
8 |
110,948,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Cmtr2
|
UTSW |
8 |
110,949,413 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3717:Cmtr2
|
UTSW |
8 |
110,948,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4043:Cmtr2
|
UTSW |
8 |
110,948,462 (GRCm39) |
nonsense |
probably null |
|
|
R4074:Cmtr2
|
UTSW |
8 |
110,947,849 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4179:Cmtr2
|
UTSW |
8 |
110,947,669 (GRCm39) |
splice site |
probably null |
|
|
R4457:Cmtr2
|
UTSW |
8 |
110,948,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4945:Cmtr2
|
UTSW |
8 |
110,948,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5371:Cmtr2
|
UTSW |
8 |
110,948,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Cmtr2
|
UTSW |
8 |
110,949,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Cmtr2
|
UTSW |
8 |
110,949,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7527:Cmtr2
|
UTSW |
8 |
110,948,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7580:Cmtr2
|
UTSW |
8 |
110,948,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7808:Cmtr2
|
UTSW |
8 |
110,948,251 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8510:Cmtr2
|
UTSW |
8 |
110,949,067 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8690:Cmtr2
|
UTSW |
8 |
110,948,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9172:Cmtr2
|
UTSW |
8 |
110,948,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9282:Cmtr2
|
UTSW |
8 |
110,948,977 (GRCm39) |
missense |
probably benign |
|
|
R9307:Cmtr2
|
UTSW |
8 |
110,949,712 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9342:Cmtr2
|
UTSW |
8 |
110,949,078 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Cmtr2
|
UTSW |
8 |
110,948,131 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation