Incidental Mutation 'R6050:Cmtr1'
| ID |
483521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmtr1
|
| Ensembl Gene |
ENSMUSG00000024019 |
| Gene Name |
cap methyltransferase 1 |
| Synonyms |
1300018I05Rik, Ftsjd2 |
| MMRRC Submission |
044218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R6050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29879569-29924953 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29901108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 678
(K678N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024816]
[ENSMUST00000129864]
[ENSMUST00000130871]
|
| AlphaFold |
Q9DBC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024816
AA Change: K238N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: K238N
| 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: ENSMUST00000127695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128410
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129864
AA Change: K58N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134356
Gene: ENSMUSG00000024019
AA Change: K58N
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4N4A|A
|
1 |
68 |
2e-40 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130052
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130871
AA Change: K678N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
AA Change: K678N
| 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 |
noncoding transcript
Transcript: ENSMUST00000138939
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172610
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,793,202 (GRCm39) |
D1481G |
possibly damaging |
Het |
| Ak9 |
A |
G |
10: 41,265,108 (GRCm39) |
E955G |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,219,814 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Bbs2 |
T |
A |
8: 94,819,160 (GRCm39) |
N70Y |
probably damaging |
Het |
| BC048679 |
T |
C |
7: 81,145,339 (GRCm39) |
I70V |
possibly damaging |
Het |
| Catspere2 |
G |
A |
1: 177,931,490 (GRCm39) |
A470T |
unknown |
Het |
| Ccdc141 |
G |
T |
2: 76,842,075 (GRCm39) |
A1452E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,812 (GRCm39) |
D1883G |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,397 (GRCm39) |
I280M |
possibly damaging |
Het |
| Daam2 |
T |
C |
17: 49,793,530 (GRCm39) |
D329G |
possibly damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Fcf1 |
G |
A |
12: 85,029,017 (GRCm39) |
C154Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,433 (GRCm39) |
N1358S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,445,229 (GRCm39) |
I608M |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,526,158 (GRCm39) |
D210N |
possibly damaging |
Het |
| Ift140 |
C |
T |
17: 25,309,979 (GRCm39) |
R1129C |
probably damaging |
Het |
| Lias |
A |
G |
5: 65,551,315 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mlh3 |
T |
C |
12: 85,287,620 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mn1 |
A |
G |
5: 111,567,263 (GRCm39) |
Y411C |
probably damaging |
Het |
| Mrps21 |
C |
T |
3: 95,770,200 (GRCm39) |
R43H |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,240,054 (GRCm39) |
Q172* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,362,501 (GRCm39) |
T1375A |
probably benign |
Het |
| Oga |
A |
C |
19: 45,753,919 (GRCm39) |
S652A |
possibly damaging |
Het |
| Ovol3 |
T |
A |
7: 29,933,819 (GRCm39) |
Y101F |
probably benign |
Het |
| Pcbp4 |
T |
C |
9: 106,339,422 (GRCm39) |
V45A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,458 (GRCm39) |
E709G |
probably damaging |
Het |
| Prcc |
G |
A |
3: 87,777,191 (GRCm39) |
T261I |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,260,403 (GRCm39) |
V165A |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,376,896 (GRCm39) |
P133S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,218,383 (GRCm39) |
T251M |
unknown |
Het |
| Sec14l2 |
T |
C |
11: 4,061,477 (GRCm39) |
D67G |
probably benign |
Het |
| Smtnl1 |
A |
G |
2: 84,641,797 (GRCm39) |
I441T |
probably damaging |
Het |
| Tbce |
C |
T |
13: 14,173,019 (GRCm39) |
V471I |
possibly damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,703 (GRCm39) |
R495C |
probably damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,944 (GRCm39) |
K105R |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,010,744 (GRCm39) |
N229I |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,521 (GRCm39) |
F5028L |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,691 (GRCm39) |
S673P |
probably damaging |
Het |
| Zfp780b |
A |
T |
7: 27,663,727 (GRCm39) |
I276N |
probably 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 |
|
IGL02281:Cmtr1
|
APN |
17 |
29,910,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACATCCTGGATGGGGAG -3'
(R):5'- GCACTGAAGGACTCTATCTGGG -3'
Sequencing Primer
(F):5'- CATCCTGGATGGGGAGGAGATG -3'
(R):5'- ACTCTATCTGGGGAATGCAGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation