Incidental Mutation 'IGL01068:Cmtr2'
| ID |
51716 |
| 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 # |
IGL01068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110942297-110951118 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110949501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 604
(V604M)
|
| 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: V604M
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: V604M
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,153,599 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
G |
7: 139,425,541 (GRCm39) |
E18G |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Atg16l1 |
C |
T |
1: 87,702,546 (GRCm39) |
S269L |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,824,680 (GRCm39) |
V853A |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,136,317 (GRCm39) |
I298V |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,219,114 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,768,744 (GRCm39) |
Y2448F |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,439,098 (GRCm39) |
L16S |
probably damaging |
Het |
| Ctcf |
A |
T |
8: 106,408,117 (GRCm39) |
|
probably benign |
Het |
| Eif2ak2 |
A |
G |
17: 79,172,800 (GRCm39) |
I295T |
probably damaging |
Het |
| Foxm1 |
G |
A |
6: 128,347,930 (GRCm39) |
R284H |
possibly damaging |
Het |
| Gabra2 |
T |
C |
5: 71,119,415 (GRCm39) |
I362M |
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,313,460 (GRCm39) |
P1900Q |
probably benign |
Het |
| Klhl25 |
G |
T |
7: 75,515,897 (GRCm39) |
E268* |
probably null |
Het |
| Klk1b16 |
T |
C |
7: 43,790,102 (GRCm39) |
L124P |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,864,880 (GRCm39) |
|
probably null |
Het |
| Mpped2 |
T |
A |
2: 106,695,091 (GRCm39) |
H248Q |
probably damaging |
Het |
| Mrpl1 |
T |
A |
5: 96,371,895 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,978,428 (GRCm39) |
S429R |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,244,767 (GRCm39) |
V146I |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,739,395 (GRCm39) |
I527N |
possibly damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,894,715 (GRCm39) |
S333P |
probably damaging |
Het |
| Or1j4 |
T |
G |
2: 36,740,282 (GRCm39) |
S75A |
probably damaging |
Het |
| Or4k47 |
T |
G |
2: 111,451,685 (GRCm39) |
T245P |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,083,246 (GRCm39) |
F155S |
probably damaging |
Het |
| P4ha1 |
T |
C |
10: 59,175,157 (GRCm39) |
V39A |
probably damaging |
Het |
| Padi6 |
G |
T |
4: 140,458,264 (GRCm39) |
T514N |
possibly damaging |
Het |
| Pgm2 |
G |
A |
5: 64,265,139 (GRCm39) |
V387I |
probably damaging |
Het |
| Ppt1 |
G |
A |
4: 122,737,800 (GRCm39) |
C46Y |
probably damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,827 (GRCm39) |
|
probably benign |
Het |
| Rpl26 |
T |
C |
11: 68,793,224 (GRCm39) |
Y42H |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,324,968 (GRCm39) |
N558S |
probably damaging |
Het |
| Sema3e |
T |
G |
5: 14,283,732 (GRCm39) |
|
probably null |
Het |
| Slc8a1 |
T |
C |
17: 81,696,371 (GRCm39) |
I888V |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,883 (GRCm39) |
C306R |
probably damaging |
Het |
| Tmem209 |
A |
C |
6: 30,502,085 (GRCm39) |
L197R |
probably benign |
Het |
| Tmem38b |
T |
G |
4: 53,849,024 (GRCm39) |
V119G |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,608,547 (GRCm39) |
D82G |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,806,763 (GRCm39) |
F2094L |
probably damaging |
Het |
| Zfp638 |
C |
T |
6: 83,911,976 (GRCm39) |
R453W |
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 |
|
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 |
|
IGL02426:Cmtr2
|
APN |
8 |
110,948,322 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
2013-06-21 |
Incidental Mutation