Incidental Mutation 'IGL01115:Colq'
ID |
52696 |
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 # |
IGL01115
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
31245039-31299820 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 31267085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112027]
[ENSMUST00000150054]
|
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: ENSMUST00000150054
|
SMART Domains |
Protein: ENSMUSP00000121065 Gene: ENSMUSG00000057606
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
Ankzf1 |
T |
C |
1: 75,169,259 (GRCm39) |
L55P |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
Capza2 |
A |
G |
6: 17,654,122 (GRCm39) |
N58S |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
Napb |
T |
C |
2: 148,549,089 (GRCm39) |
Y111C |
probably damaging |
Het |
Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
Spata6l |
T |
C |
19: 28,921,842 (GRCm39) |
|
probably null |
Het |
Speer2 |
C |
T |
16: 69,658,539 (GRCm39) |
W42* |
probably null |
Het |
Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
Tctn1 |
A |
G |
5: 122,402,270 (GRCm39) |
S55P |
probably benign |
Het |
Tmem115 |
T |
A |
9: 107,411,781 (GRCm39) |
L35Q |
probably damaging |
Het |
Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,022,967 (GRCm39) |
Q42L |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
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 |
|
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 |
2013-06-21 |