Incidental Mutation 'IGL03376:Cmtr1'
ID |
420484 |
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 # |
IGL03376
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
29879569-29924953 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 29910385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 497
(R497C)
|
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: R497C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000024816 Gene: ENSMUSG00000024019 AA Change: R497C
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6v1b2 |
T |
C |
8: 69,554,811 (GRCm39) |
|
probably benign |
Het |
Ccdc122 |
A |
G |
14: 77,306,352 (GRCm39) |
E41G |
probably damaging |
Het |
Cdh3 |
C |
T |
8: 107,268,036 (GRCm39) |
T357I |
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,441,917 (GRCm39) |
Q717L |
probably damaging |
Het |
Cfap58 |
A |
T |
19: 48,023,164 (GRCm39) |
T859S |
possibly damaging |
Het |
Csmd2 |
T |
C |
4: 128,411,464 (GRCm39) |
I2494T |
probably benign |
Het |
Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
Eml3 |
A |
G |
19: 8,911,154 (GRCm39) |
D260G |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,250,960 (GRCm39) |
F493L |
possibly damaging |
Het |
Gjb5 |
C |
T |
4: 127,250,048 (GRCm39) |
R32H |
probably damaging |
Het |
Hpx |
C |
T |
7: 105,241,458 (GRCm39) |
|
probably benign |
Het |
Ikzf3 |
T |
A |
11: 98,379,779 (GRCm39) |
H163L |
probably damaging |
Het |
Irak3 |
G |
A |
10: 119,982,541 (GRCm39) |
|
probably benign |
Het |
Itih5 |
G |
A |
2: 10,211,584 (GRCm39) |
V275I |
probably benign |
Het |
Klc1 |
G |
T |
12: 111,742,387 (GRCm39) |
E174D |
probably damaging |
Het |
Ly6g6e |
A |
G |
17: 35,297,208 (GRCm39) |
*108W |
probably null |
Het |
Mcph1 |
T |
C |
8: 18,646,989 (GRCm39) |
S31P |
probably damaging |
Het |
Mettl4 |
A |
T |
17: 95,042,799 (GRCm39) |
S346T |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,490,086 (GRCm39) |
|
probably benign |
Het |
Or2ag19 |
T |
A |
7: 106,444,677 (GRCm39) |
N286K |
probably damaging |
Het |
Otol1 |
A |
G |
3: 69,934,845 (GRCm39) |
E279G |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,115,071 (GRCm39) |
N722K |
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,319,947 (GRCm39) |
S449P |
probably damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,059 (GRCm39) |
N145S |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,753,380 (GRCm39) |
I158M |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,173,219 (GRCm39) |
|
probably benign |
Het |
Slc30a8 |
C |
T |
15: 52,169,853 (GRCm39) |
R27* |
probably null |
Het |
Tmco2 |
T |
A |
4: 120,966,249 (GRCm39) |
T36S |
probably benign |
Het |
Tns4 |
T |
C |
11: 98,969,382 (GRCm39) |
S360G |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,420,574 (GRCm39) |
|
probably null |
Het |
Wwc1 |
C |
T |
11: 35,743,121 (GRCm39) |
R900Q |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,767,377 (GRCm39) |
|
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 |
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 |
2016-08-02 |