Incidental Mutation 'IGL01481:Cmtr1'
ID |
88591 |
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 # |
IGL01481
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
29879569-29924953 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 29917631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 654
(I654S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024816]
[ENSMUST00000123502]
[ENSMUST00000128751]
[ENSMUST00000129091]
[ENSMUST00000130871]
[ENSMUST00000131807]
[ENSMUST00000137079]
|
AlphaFold |
Q9DBC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024816
AA Change: I654S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000024816 Gene: ENSMUSG00000024019 AA Change: I654S
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: ENSMUST00000128751
|
SMART Domains |
Protein: ENSMUSP00000123612 Gene: ENSMUSG00000024018
Domain | Start | End | E-Value | Type |
Pfam:CCDC-167
|
9 |
93 |
2.4e-36 |
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 |
noncoding transcript
Transcript: ENSMUST00000138939
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,910,079 (GRCm39) |
S523C |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,867,450 (GRCm39) |
D798E |
possibly damaging |
Het |
Arhgef7 |
G |
T |
8: 11,865,256 (GRCm39) |
V410L |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,077,296 (GRCm39) |
L338P |
probably damaging |
Het |
Cldn17 |
A |
G |
16: 88,303,471 (GRCm39) |
V86A |
probably benign |
Het |
Clec4a2 |
A |
G |
6: 123,119,459 (GRCm39) |
N237S |
probably benign |
Het |
Cryzl2 |
G |
A |
1: 157,298,309 (GRCm39) |
|
probably null |
Het |
Ctif |
A |
G |
18: 75,744,855 (GRCm39) |
|
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,945,572 (GRCm39) |
I307N |
probably damaging |
Het |
Drosha |
A |
T |
15: 12,842,525 (GRCm39) |
T399S |
probably benign |
Het |
Eef2k |
A |
T |
7: 120,494,441 (GRCm39) |
Y35F |
probably benign |
Het |
Emc1 |
T |
C |
4: 139,089,410 (GRCm39) |
S193P |
probably benign |
Het |
Fpr2 |
T |
C |
17: 18,113,025 (GRCm39) |
I7T |
probably benign |
Het |
Fras1 |
C |
A |
5: 96,805,100 (GRCm39) |
N1247K |
probably damaging |
Het |
Gipr |
T |
C |
7: 18,893,431 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
C |
T |
12: 52,002,208 (GRCm39) |
G243S |
probably damaging |
Het |
Hivep2 |
G |
A |
10: 14,024,981 (GRCm39) |
R2265Q |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,882,174 (GRCm39) |
S1073P |
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,724,009 (GRCm39) |
S514P |
probably damaging |
Het |
Inpp5b |
T |
A |
4: 124,694,492 (GRCm39) |
|
probably null |
Het |
Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
Itih5 |
A |
C |
2: 10,195,100 (GRCm39) |
Q164P |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,750,215 (GRCm39) |
E1045D |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,168,951 (GRCm39) |
V1374A |
possibly damaging |
Het |
Mrps34 |
T |
C |
17: 25,116,310 (GRCm39) |
|
probably benign |
Het |
Nadsyn1 |
T |
C |
7: 143,366,321 (GRCm39) |
D191G |
probably damaging |
Het |
Nlrc3 |
T |
G |
16: 3,781,769 (GRCm39) |
N563H |
probably damaging |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Or10g6 |
T |
C |
9: 39,934,574 (GRCm39) |
M295T |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or4a79 |
A |
G |
2: 89,551,870 (GRCm39) |
L195P |
probably damaging |
Het |
Or52u1 |
C |
A |
7: 104,237,067 (GRCm39) |
P36T |
probably damaging |
Het |
Pdgfd |
C |
A |
9: 6,337,271 (GRCm39) |
T195K |
probably null |
Het |
Ptprz1 |
C |
A |
6: 22,999,979 (GRCm39) |
Q690K |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,430,903 (GRCm39) |
M23K |
probably damaging |
Het |
Scn10a |
G |
A |
9: 119,438,260 (GRCm39) |
R1869C |
probably damaging |
Het |
Scp2 |
T |
C |
4: 107,931,639 (GRCm39) |
|
probably null |
Het |
Sec61a1 |
A |
G |
6: 88,483,829 (GRCm39) |
V354A |
probably benign |
Het |
Sgpp1 |
T |
C |
12: 75,769,431 (GRCm39) |
I246V |
probably benign |
Het |
Slco2a1 |
G |
T |
9: 102,947,450 (GRCm39) |
D250Y |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,460,273 (GRCm39) |
N1435D |
probably benign |
Het |
Sspo |
A |
G |
6: 48,425,449 (GRCm39) |
I23M |
probably benign |
Het |
Steap4 |
A |
T |
5: 8,026,858 (GRCm39) |
T274S |
probably damaging |
Het |
Tbc1d22b |
T |
C |
17: 29,787,572 (GRCm39) |
L107P |
possibly damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tmem45a2 |
T |
A |
16: 56,867,375 (GRCm39) |
I109F |
probably benign |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Tox |
T |
A |
4: 6,842,396 (GRCm39) |
T45S |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Wdr7 |
G |
A |
18: 63,872,250 (GRCm39) |
D395N |
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 |
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 |
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 |
2013-11-18 |