Incidental Mutation 'IGL02281:Cmtr1'
| ID |
289838 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cmtr1
|
| Ensembl Gene |
ENSMUSG00000024019 |
| Gene Name |
cap methyltransferase 1 |
| Synonyms |
1300018I05Rik, Ftsjd2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL02281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29879569-29924953 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29910255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 453
(D453E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024816]
[ENSMUST00000130871]
[ENSMUST00000137079]
|
| AlphaFold |
Q9DBC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024816
AA Change: D453E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: D453E
| Domain | Start | End | E-Value | Type |
|---|
|
G_patch
|
84 |
130 |
1.93e-10 |
SMART |
|
Pfam:FtsJ
|
231 |
448 |
9.5e-42 |
PFAM |
|
SCOP:d1ckma2
|
625 |
718 |
4e-3 |
SMART |
|
WW
|
752 |
785 |
2.05e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130871
|
| SMART Domains |
Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
| Domain | Start | End | E-Value | Type |
|---|
|
FHA
|
37 |
92 |
5.55e-8 |
SMART |
|
low complexity region
|
116 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
317 |
N/A |
INTRINSIC |
|
RING
|
406 |
443 |
3.64e-7 |
SMART |
|
G_patch
|
524 |
570 |
1.93e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137079
|
| SMART Domains |
Protein: ENSMUSP00000115603
Gene: ENSMUSG00000024018
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC-167
|
9 |
53 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138939
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172610
|
| 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 |
|---|
| Agrp |
T |
C |
8: 106,293,786 (GRCm39) |
E60G |
probably benign |
Het |
| Aldh3a1 |
T |
G |
11: 61,107,949 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
| Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
| Clec5a |
A |
T |
6: 40,561,336 (GRCm39) |
D36E |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
| Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,529 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,419,730 (GRCm39) |
V340A |
probably benign |
Het |
| Etv4 |
T |
C |
11: 101,664,545 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
| Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
| Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
| Map9 |
G |
A |
3: 82,298,453 (GRCm39) |
E613K |
possibly damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
| Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
| Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
| Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
possibly damaging |
Het |
|
| Other mutations in Cmtr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Cmtr1
|
APN |
17 |
29,893,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00980:Cmtr1
|
APN |
17 |
29,910,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00987:Cmtr1
|
APN |
17 |
29,916,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01413:Cmtr1
|
APN |
17 |
29,916,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01481:Cmtr1
|
APN |
17 |
29,917,631 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03079:Cmtr1
|
APN |
17 |
29,882,267 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03376:Cmtr1
|
APN |
17 |
29,910,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4403001:Cmtr1
|
UTSW |
17 |
29,917,047 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0256:Cmtr1
|
UTSW |
17 |
29,916,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Cmtr1
|
UTSW |
17 |
29,895,259 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1477:Cmtr1
|
UTSW |
17 |
29,916,131 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1623:Cmtr1
|
UTSW |
17 |
29,906,021 (GRCm39) |
splice site |
probably null |
|
|
R1852:Cmtr1
|
UTSW |
17 |
29,921,229 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1867:Cmtr1
|
UTSW |
17 |
29,893,148 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1918:Cmtr1
|
UTSW |
17 |
29,897,983 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2070:Cmtr1
|
UTSW |
17 |
29,913,757 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2071:Cmtr1
|
UTSW |
17 |
29,913,757 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2161:Cmtr1
|
UTSW |
17 |
29,921,147 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2518:Cmtr1
|
UTSW |
17 |
29,900,954 (GRCm39) |
nonsense |
probably null |
|
|
R2763:Cmtr1
|
UTSW |
17 |
29,899,602 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4077:Cmtr1
|
UTSW |
17 |
29,904,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4271:Cmtr1
|
UTSW |
17 |
29,916,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4363:Cmtr1
|
UTSW |
17 |
29,893,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Cmtr1
|
UTSW |
17 |
29,906,131 (GRCm39) |
splice site |
probably null |
|
|
R4736:Cmtr1
|
UTSW |
17 |
29,919,216 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5056:Cmtr1
|
UTSW |
17 |
29,909,302 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5492:Cmtr1
|
UTSW |
17 |
29,909,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Cmtr1
|
UTSW |
17 |
29,882,217 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5990:Cmtr1
|
UTSW |
17 |
29,921,135 (GRCm39) |
missense |
probably benign |
|
|
R6050:Cmtr1
|
UTSW |
17 |
29,901,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Cmtr1
|
UTSW |
17 |
29,901,139 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6238:Cmtr1
|
UTSW |
17 |
29,901,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Cmtr1
|
UTSW |
17 |
29,895,174 (GRCm39) |
missense |
probably benign |
|
|
R7229:Cmtr1
|
UTSW |
17 |
29,914,398 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8337:Cmtr1
|
UTSW |
17 |
29,893,151 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9538:Cmtr1
|
UTSW |
17 |
29,882,282 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9607:Cmtr1
|
UTSW |
17 |
29,893,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation