Incidental Mutation 'R4363:Cmtr1'
| ID |
325010 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4363 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29879569-29924953 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29893206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 75
(L75P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024816]
[ENSMUST00000130423]
[ENSMUST00000130871]
|
| AlphaFold |
Q9DBC3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024816
AA Change: L75P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: L75P
| 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 |
probably damaging
Transcript: ENSMUST00000130423
AA Change: L75P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130871
AA Change: L515P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
AA Change: L515P
| 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: ENSMUST00000150388
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
T |
19: 43,787,575 (GRCm39) |
W207L |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,151,303 (GRCm39) |
V1081E |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,003 (GRCm39) |
I400N |
possibly damaging |
Het |
| Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,582,722 (GRCm39) |
I72F |
probably damaging |
Het |
| Dsn1 |
A |
T |
2: 156,841,062 (GRCm39) |
I214K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,590,276 (GRCm39) |
W809R |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
| Fbxo33 |
T |
C |
12: 59,251,648 (GRCm39) |
H289R |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,331 (GRCm39) |
S1008P |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,781,100 (GRCm39) |
N189S |
probably benign |
Het |
| Hus1 |
G |
T |
11: 8,948,676 (GRCm39) |
L242I |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,291,912 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
A |
3: 86,997,792 (GRCm39) |
E244* |
probably null |
Het |
| Mmrn2 |
C |
T |
14: 34,119,934 (GRCm39) |
A268V |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,485,893 (GRCm39) |
A1023E |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,557,902 (GRCm39) |
I47V |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,544 (GRCm39) |
I45F |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Pak1 |
T |
C |
7: 97,532,793 (GRCm39) |
S198P |
possibly damaging |
Het |
| Pank1 |
A |
C |
19: 34,804,532 (GRCm39) |
V208G |
probably damaging |
Het |
| Pcdhga12 |
C |
G |
18: 37,899,214 (GRCm39) |
F15L |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,590,244 (GRCm39) |
D723G |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,104,020 (GRCm39) |
I147N |
probably damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,850,060 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,475,665 (GRCm39) |
Y4927C |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,794,766 (GRCm39) |
H477L |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r-ps69 |
T |
C |
7: 84,959,700 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- AGAGACGTCACTGTGACCTC -3'
(R):5'- CAGAACCTATATCCTGTGCTAACTTG -3'
Sequencing Primer
(F):5'- ACTGTGACCTCCATTGAGTGCAG -3'
(R):5'- GTGCTAACTTGTGCCCCAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation