Incidental Mutation 'R4114:Colq'
ID |
314560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Colq
|
Ensembl Gene |
ENSMUSG00000057606 |
Gene Name |
collagen like tail subunit of asymmetric acetylcholinesterase |
Synonyms |
|
MMRRC Submission |
040990-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R4114 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
31245039-31299820 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 31279824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112027]
[ENSMUST00000124014]
[ENSMUST00000150054]
[ENSMUST00000167175]
|
AlphaFold |
O35348 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112027
|
SMART Domains |
Protein: ENSMUSP00000107658 Gene: ENSMUSG00000057606
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
Pfam:Collagen
|
91 |
155 |
8.8e-11 |
PFAM |
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
Pfam:Collagen
|
215 |
293 |
3.7e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124014
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150054
AA Change: M1L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121065 Gene: ENSMUSG00000057606 AA Change: M1L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
Pfam:Collagen
|
81 |
143 |
1.5e-11 |
PFAM |
low complexity region
|
169 |
181 |
N/A |
INTRINSIC |
low complexity region
|
184 |
196 |
N/A |
INTRINSIC |
Pfam:Collagen
|
202 |
283 |
6.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167175
|
SMART Domains |
Protein: ENSMUSP00000128588 Gene: ENSMUSG00000115022
Domain | Start | End | E-Value | Type |
Pfam:TPP_enzyme_N
|
17 |
139 |
3.6e-35 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (37/37) |
MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit tremors, reduced body weight, lack of asymmetric forms of acetylcholinesterase and butyrylcholinesterase, and lethality prior to maturation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
Cep44 |
T |
C |
8: 56,998,457 (GRCm39) |
T74A |
probably benign |
Het |
Cym |
A |
T |
3: 107,127,065 (GRCm39) |
L30Q |
probably damaging |
Het |
Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
Ino80b |
A |
G |
6: 83,101,121 (GRCm39) |
S149P |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
T |
4: 143,936,173 (GRCm39) |
L29H |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
Scart2 |
T |
C |
7: 139,877,823 (GRCm39) |
V935A |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
Trim5 |
A |
G |
7: 103,914,947 (GRCm39) |
L374P |
probably damaging |
Het |
Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
Zfp35 |
A |
C |
18: 24,135,766 (GRCm39) |
I37L |
probably benign |
Het |
|
Other mutations in Colq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Colq
|
APN |
14 |
31,257,545 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00832:Colq
|
APN |
14 |
31,250,303 (GRCm39) |
nonsense |
probably null |
|
IGL01115:Colq
|
APN |
14 |
31,267,085 (GRCm39) |
splice site |
probably benign |
|
IGL01879:Colq
|
APN |
14 |
31,265,952 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Colq
|
APN |
14 |
31,257,599 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02935:Colq
|
APN |
14 |
31,257,591 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03168:Colq
|
APN |
14 |
31,246,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R0288:Colq
|
UTSW |
14 |
31,265,949 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0765:Colq
|
UTSW |
14 |
31,247,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1756:Colq
|
UTSW |
14 |
31,269,409 (GRCm39) |
missense |
probably damaging |
0.97 |
R3749:Colq
|
UTSW |
14 |
31,271,410 (GRCm39) |
unclassified |
probably benign |
|
R4415:Colq
|
UTSW |
14 |
31,257,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4604:Colq
|
UTSW |
14 |
31,267,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4628:Colq
|
UTSW |
14 |
31,265,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Colq
|
UTSW |
14 |
31,251,472 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4971:Colq
|
UTSW |
14 |
31,267,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R5071:Colq
|
UTSW |
14 |
31,250,789 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5096:Colq
|
UTSW |
14 |
31,274,911 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5181:Colq
|
UTSW |
14 |
31,279,799 (GRCm39) |
missense |
probably benign |
|
R5251:Colq
|
UTSW |
14 |
31,261,776 (GRCm39) |
critical splice donor site |
probably null |
|
R7059:Colq
|
UTSW |
14 |
31,247,991 (GRCm39) |
missense |
probably damaging |
0.98 |
R7075:Colq
|
UTSW |
14 |
31,274,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R7355:Colq
|
UTSW |
14 |
31,267,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7490:Colq
|
UTSW |
14 |
31,267,043 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7651:Colq
|
UTSW |
14 |
31,250,292 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7988:Colq
|
UTSW |
14 |
31,275,794 (GRCm39) |
missense |
probably damaging |
0.98 |
R9037:Colq
|
UTSW |
14 |
31,279,744 (GRCm39) |
intron |
probably benign |
|
R9797:Colq
|
UTSW |
14 |
31,250,777 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
|
Posted On |
2015-05-14 |