Incidental Mutation 'R9538:Cmtr1'
ID |
719783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmtr1
|
Ensembl Gene |
ENSMUSG00000024019 |
Gene Name |
cap methyltransferase 1 |
Synonyms |
1300018I05Rik, Ftsjd2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R9538 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
29879569-29924953 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 29882282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024816]
[ENSMUST00000130423]
[ENSMUST00000130871]
|
AlphaFold |
Q9DBC3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024816
|
SMART Domains |
Protein: ENSMUSP00000024816 Gene: ENSMUSG00000024019
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: ENSMUST00000130423
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,380,672 (GRCm39) |
L312P |
probably benign |
Het |
Ankrd31 |
A |
G |
13: 97,009,193 (GRCm39) |
N1262D |
probably benign |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Ccnjl |
A |
G |
11: 43,470,564 (GRCm39) |
T111A |
probably benign |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Diaph1 |
T |
C |
18: 37,986,470 (GRCm39) |
K1137E |
probably damaging |
Het |
Dpysl4 |
C |
A |
7: 138,670,230 (GRCm39) |
A116E |
probably damaging |
Het |
E2f7 |
A |
G |
10: 110,616,628 (GRCm39) |
K623E |
possibly damaging |
Het |
Glb1l |
G |
T |
1: 75,178,096 (GRCm39) |
P358T |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,882,014 (GRCm39) |
R260G |
probably damaging |
Het |
Ighv14-2 |
A |
C |
12: 113,958,205 (GRCm39) |
Y79D |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,834,784 (GRCm39) |
D710G |
probably benign |
Het |
Or6c70 |
T |
G |
10: 129,709,762 (GRCm39) |
Y288S |
probably damaging |
Het |
Ppp2r3d |
T |
C |
9: 124,424,007 (GRCm38) |
T50A |
unknown |
Het |
Psg18 |
A |
T |
7: 18,084,713 (GRCm39) |
Y249N |
probably benign |
Het |
Smarcc1 |
T |
C |
9: 109,961,272 (GRCm39) |
Y30H |
probably benign |
Het |
Strn |
G |
T |
17: 78,972,219 (GRCm39) |
A443E |
possibly damaging |
Het |
Tmem119 |
A |
G |
5: 113,933,702 (GRCm39) |
V33A |
possibly damaging |
Het |
Vmn1r210 |
T |
A |
13: 23,011,837 (GRCm39) |
K150* |
probably null |
Het |
Vmn1r212 |
A |
G |
13: 23,067,451 (GRCm39) |
F294S |
probably benign |
Het |
Vmn2r67 |
C |
A |
7: 84,801,327 (GRCm39) |
W203L |
|
Het |
Zfc3h1 |
A |
G |
10: 115,221,197 (GRCm39) |
D32G |
unknown |
Het |
Zfp931 |
T |
C |
2: 177,709,605 (GRCm39) |
I260M |
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 |
|
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 |
R9607:Cmtr1
|
UTSW |
17 |
29,893,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCTCAGAGCTGACTGACG -3'
(R):5'- AGAGTCTGGGTCAGTTCTCCTC -3'
Sequencing Primer
(F):5'- CAGAGCTGACTGACGGGATTTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
Posted On |
2022-07-18 |