Incidental Mutation 'IGL02903:Cmtr2'
ID |
363687 |
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 # |
IGL02903
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
110942297-110951118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110949510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 607
(T607A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056972]
[ENSMUST00000189685]
|
AlphaFold |
Q8BWQ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056972
AA Change: T607A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000060558 Gene: ENSMUSG00000046441 AA Change: T607A
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
T |
G |
6: 116,397,296 (GRCm39) |
N296T |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,045,004 (GRCm39) |
E301K |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,516,120 (GRCm39) |
S1237G |
probably damaging |
Het |
Atf6 |
G |
A |
1: 170,627,283 (GRCm39) |
P394S |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
C4bp |
G |
A |
1: 130,583,722 (GRCm39) |
T82I |
probably damaging |
Het |
Cask |
A |
T |
X: 13,418,686 (GRCm39) |
|
probably benign |
Het |
Cenpf |
A |
T |
1: 189,379,073 (GRCm39) |
S2906T |
probably damaging |
Het |
Cfl1 |
T |
C |
19: 5,542,828 (GRCm39) |
F103L |
probably benign |
Het |
Chrnb3 |
A |
T |
8: 27,876,834 (GRCm39) |
T83S |
probably damaging |
Het |
Cplane1 |
G |
T |
15: 8,299,262 (GRCm39) |
R3150M |
unknown |
Het |
Cplane1 |
G |
T |
15: 8,299,263 (GRCm39) |
R3150S |
unknown |
Het |
Cts7 |
A |
T |
13: 61,504,440 (GRCm39) |
|
probably benign |
Het |
Dgkz |
A |
T |
2: 91,770,307 (GRCm39) |
Y514N |
possibly damaging |
Het |
Dmrtc1b |
T |
A |
X: 101,757,173 (GRCm39) |
L206Q |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,075,363 (GRCm39) |
L397F |
probably damaging |
Het |
Gm6356 |
C |
T |
14: 6,973,735 (GRCm38) |
G27E |
probably damaging |
Het |
Hkdc1 |
C |
T |
10: 62,235,970 (GRCm39) |
|
probably null |
Het |
Jkampl |
A |
G |
6: 73,446,103 (GRCm39) |
Y149H |
probably damaging |
Het |
Kcmf1 |
A |
T |
6: 72,835,866 (GRCm39) |
V21E |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,648,480 (GRCm39) |
T75S |
possibly damaging |
Het |
Lemd2 |
A |
G |
17: 27,412,184 (GRCm39) |
|
probably benign |
Het |
Magee1 |
G |
T |
X: 104,166,945 (GRCm39) |
R910L |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,307,092 (GRCm39) |
|
probably benign |
Het |
Mfsd4b3-ps |
T |
A |
10: 39,823,639 (GRCm39) |
E207V |
possibly damaging |
Het |
Or2ag15 |
A |
G |
7: 106,340,917 (GRCm39) |
S75P |
probably damaging |
Het |
Or7a38 |
A |
G |
10: 78,753,250 (GRCm39) |
D192G |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,180,217 (GRCm39) |
V1026A |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,953,870 (GRCm39) |
L942P |
probably damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,883,387 (GRCm39) |
L45Q |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,425,736 (GRCm39) |
M69K |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,502,447 (GRCm39) |
T824A |
possibly damaging |
Het |
Rfwd3 |
T |
C |
8: 112,004,861 (GRCm39) |
T574A |
probably benign |
Het |
Rsbn1 |
T |
C |
3: 103,835,885 (GRCm39) |
S308P |
probably damaging |
Het |
Shisal2b |
T |
A |
13: 105,000,118 (GRCm39) |
Y35F |
probably benign |
Het |
Smr2 |
A |
T |
5: 88,256,489 (GRCm39) |
I56F |
probably benign |
Het |
Wdfy4 |
C |
T |
14: 32,831,607 (GRCm39) |
R873H |
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 |
IGL02426:Cmtr2
|
APN |
8 |
110,948,322 (GRCm39) |
missense |
possibly damaging |
0.65 |
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 |
2015-12-18 |