Incidental Mutation 'IGL00832:Colq'
ID |
9834 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Colq
|
Ensembl Gene |
ENSMUSG00000057606 |
Gene Name |
collagen like tail subunit of asymmetric acetylcholinesterase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL00832
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
31245039-31299820 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 31250303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 367
(C367*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112027]
[ENSMUST00000150054]
|
AlphaFold |
O35348 |
Predicted Effect |
probably null
Transcript: ENSMUST00000112027
AA Change: C377*
|
SMART Domains |
Protein: ENSMUSP00000107658 Gene: ENSMUSG00000057606 AA Change: C377*
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 null
Transcript: ENSMUST00000150054
AA Change: C367*
|
SMART Domains |
Protein: ENSMUSP00000121065 Gene: ENSMUSG00000057606 AA Change: C367*
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,209,193 (GRCm39) |
Y407C |
probably damaging |
Het |
Amtn |
T |
G |
5: 88,532,908 (GRCm39) |
H174Q |
possibly damaging |
Het |
Cdon |
T |
A |
9: 35,389,412 (GRCm39) |
I839N |
probably damaging |
Het |
Ces2g |
A |
G |
8: 105,694,471 (GRCm39) |
|
probably benign |
Het |
Cgas |
A |
T |
9: 78,341,599 (GRCm39) |
C393S |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,560,289 (GRCm39) |
V745A |
probably benign |
Het |
E2f8 |
C |
T |
7: 48,517,951 (GRCm39) |
G657D |
probably damaging |
Het |
Gpcpd1 |
G |
A |
2: 132,388,770 (GRCm39) |
T334M |
probably damaging |
Het |
Gria2 |
T |
C |
3: 80,614,558 (GRCm39) |
D494G |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,253,632 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
G |
A |
5: 31,330,349 (GRCm39) |
|
probably benign |
Het |
Hnf4g |
G |
A |
3: 3,706,336 (GRCm39) |
C77Y |
probably damaging |
Het |
Ido1 |
G |
A |
8: 25,074,575 (GRCm39) |
T265I |
possibly damaging |
Het |
Ifih1 |
A |
G |
2: 62,475,814 (GRCm39) |
|
probably benign |
Het |
Itga6 |
A |
G |
2: 71,668,606 (GRCm39) |
|
probably null |
Het |
Kctd10 |
C |
A |
5: 114,506,997 (GRCm39) |
|
probably null |
Het |
Ltk |
A |
T |
2: 119,586,086 (GRCm39) |
|
probably benign |
Het |
Luc7l3 |
T |
C |
11: 94,194,768 (GRCm39) |
D84G |
probably benign |
Het |
Mc3r |
A |
T |
2: 172,090,948 (GRCm39) |
I57F |
possibly damaging |
Het |
Mmp1b |
T |
A |
9: 7,387,023 (GRCm39) |
Q63L |
possibly damaging |
Het |
Ncr1 |
C |
A |
7: 4,344,287 (GRCm39) |
T225N |
possibly damaging |
Het |
Nf2 |
T |
C |
11: 4,741,123 (GRCm39) |
K364E |
probably benign |
Het |
Ppl |
A |
T |
16: 4,906,839 (GRCm39) |
L1152H |
probably damaging |
Het |
Primpol |
A |
G |
8: 47,034,632 (GRCm39) |
V432A |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
Rxfp2 |
A |
T |
5: 149,989,893 (GRCm39) |
M425L |
probably benign |
Het |
Slc5a3 |
T |
C |
16: 91,874,519 (GRCm39) |
M192T |
probably damaging |
Het |
Tbx18 |
T |
A |
9: 87,587,714 (GRCm39) |
S468C |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,468,864 (GRCm39) |
T104A |
probably benign |
Het |
Unc13b |
T |
G |
4: 43,258,921 (GRCm39) |
V4153G |
probably damaging |
Het |
Vmn1r188 |
A |
G |
13: 22,272,351 (GRCm39) |
T102A |
probably damaging |
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 |
|
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 |
|
R4114:Colq
|
UTSW |
14 |
31,279,824 (GRCm39) |
start codon destroyed |
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 |
|
|
Posted On |
2012-12-06 |