Incidental Mutation 'R0256:Cmtr1'
| ID |
34760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmtr1
|
| Ensembl Gene |
ENSMUSG00000024019 |
| Gene Name |
cap methyltransferase 1 |
| Synonyms |
1300018I05Rik, Ftsjd2 |
| MMRRC Submission |
038487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R0256 (G1)
|
| Quality Score |
122 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29879569-29924953 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29916098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 576
(L576P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024816]
[ENSMUST00000123502]
[ENSMUST00000129091]
[ENSMUST00000130871]
[ENSMUST00000131807]
[ENSMUST00000137079]
|
| AlphaFold |
Q9DBC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024816
AA Change: L576P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: L576P
| 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 |
probably benign
Transcript: ENSMUST00000123502
|
| SMART Domains |
Protein: ENSMUSP00000119013
Gene: ENSMUSG00000024018
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC-167
|
9 |
92 |
7.6e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129091
|
| SMART Domains |
Protein: ENSMUSP00000116591
Gene: ENSMUSG00000024018
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC-167
|
10 |
93 |
3.1e-36 |
PFAM |
|
| 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: ENSMUST00000131807
|
| SMART Domains |
Protein: ENSMUSP00000120238
Gene: ENSMUSG00000024018
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC-167
|
5 |
49 |
2.1e-16 |
PFAM |
|
| 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
|
| Meta Mutation Damage Score |
0.7630 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.6%
- 10x: 95.8%
- 20x: 92.8%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,098,252 (GRCm39) |
L186F |
probably damaging |
Het |
| Abce1 |
A |
C |
8: 80,412,572 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
A |
T |
15: 101,035,002 (GRCm39) |
N254Y |
probably damaging |
Het |
| Apip |
T |
A |
2: 102,918,916 (GRCm39) |
M72K |
possibly damaging |
Het |
| Arg1 |
A |
G |
10: 24,792,356 (GRCm39) |
Y188H |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,274,027 (GRCm39) |
N354Y |
probably damaging |
Het |
| Arrdc5 |
A |
G |
17: 56,601,382 (GRCm39) |
F248L |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,302,576 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
T |
3: 36,971,922 (GRCm39) |
V552L |
probably benign |
Het |
| Ccdc154 |
C |
T |
17: 25,389,606 (GRCm39) |
A490V |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,053,868 (GRCm39) |
|
probably benign |
Het |
| Chmp2b |
G |
T |
16: 65,337,078 (GRCm39) |
T193K |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,436,640 (GRCm39) |
N814K |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,213,624 (GRCm39) |
H104R |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,439,436 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
T |
A |
11: 99,683,542 (GRCm39) |
T193S |
unknown |
Het |
| Gm15217 |
A |
T |
14: 46,617,853 (GRCm39) |
|
probably benign |
Het |
| Hic2 |
A |
G |
16: 17,075,377 (GRCm39) |
I69V |
probably benign |
Het |
| Ivl |
T |
C |
3: 92,479,150 (GRCm39) |
D305G |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,725,472 (GRCm39) |
T323A |
probably damaging |
Het |
| Krt7 |
C |
T |
15: 101,321,190 (GRCm39) |
Q336* |
probably null |
Het |
| Krt73 |
T |
G |
15: 101,710,371 (GRCm39) |
D121A |
probably damaging |
Het |
| Mok |
T |
C |
12: 110,774,539 (GRCm39) |
D216G |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,175,539 (GRCm39) |
C44R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,395,132 (GRCm39) |
Y46C |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,396,995 (GRCm39) |
F223L |
unknown |
Het |
| Noct |
A |
G |
3: 51,157,895 (GRCm39) |
D411G |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5j1 |
T |
C |
2: 86,879,400 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,906 (GRCm39) |
D173V |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,393,062 (GRCm39) |
H36R |
probably damaging |
Het |
| Plscr3 |
A |
G |
11: 69,740,880 (GRCm39) |
K239E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,330 (GRCm39) |
D445G |
probably benign |
Het |
| Ramp1 |
A |
T |
1: 91,124,641 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,266,942 (GRCm39) |
H214Q |
probably benign |
Het |
| Selenbp2 |
A |
T |
3: 94,607,008 (GRCm39) |
H156L |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,721,314 (GRCm39) |
T284A |
probably benign |
Het |
| Slc35a1 |
T |
C |
4: 34,668,962 (GRCm39) |
T284A |
probably benign |
Het |
| Smco2 |
A |
T |
6: 146,763,244 (GRCm39) |
I184F |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,472 (GRCm39) |
M740V |
possibly damaging |
Het |
| Stil |
T |
A |
4: 114,880,882 (GRCm39) |
N475K |
possibly damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,839 (GRCm39) |
D122G |
probably damaging |
Het |
| Tnks |
A |
G |
8: 35,328,701 (GRCm39) |
M623T |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,617,317 (GRCm39) |
V235A |
probably benign |
Het |
| Zfp423 |
A |
T |
8: 88,500,262 (GRCm39) |
C1053* |
probably null |
Het |
| Zfp648 |
T |
A |
1: 154,081,414 (GRCm39) |
D524E |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAATCCTCACGTTTGGTGTCAC -3'
(R):5'- TTCAGCCAGGCAAGATTAGGCAG -3'
Sequencing Primer
(F):5'- AGTGACATTCCCTGGTAAATCC -3'
(R):5'- AGGAAGACCTCTTTGATGCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation