Incidental Mutation 'IGL03168:Colq'
| ID |
411723 |
| 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 # |
IGL03168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
31245039-31299820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31246377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 445
(Y445C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112027]
[ENSMUST00000150054]
|
| AlphaFold |
O35348 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112027
AA Change: Y455C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: Y455C
| 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 damaging
Transcript: ENSMUST00000150054
AA Change: Y445C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: Y445C
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
C |
13: 4,486,280 (GRCm39) |
V29A |
probably benign |
Het |
| Ankk1 |
C |
A |
9: 49,327,068 (GRCm39) |
A704S |
possibly damaging |
Het |
| Aph1c |
G |
A |
9: 66,740,619 (GRCm39) |
|
probably benign |
Het |
| Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
| Calhm4 |
C |
T |
10: 33,917,552 (GRCm39) |
V300I |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,239,741 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
| Erfe |
T |
G |
1: 91,299,164 (GRCm39) |
N302K |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
| Gata3 |
A |
G |
2: 9,873,625 (GRCm39) |
Y290H |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,539 (GRCm39) |
T136A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,848 (GRCm39) |
S353T |
possibly damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,854 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,886,846 (GRCm39) |
F794S |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
| Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or8b1c |
A |
G |
9: 38,384,315 (GRCm39) |
T91A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,825 (GRCm39) |
E205G |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
| Qpct |
C |
A |
17: 79,359,753 (GRCm39) |
A20E |
unknown |
Het |
| Rap1a |
A |
G |
3: 105,657,587 (GRCm39) |
S11P |
probably damaging |
Het |
| Rnf145 |
C |
A |
11: 44,445,985 (GRCm39) |
T273K |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,364,831 (GRCm39) |
I298T |
probably damaging |
Het |
| Syt6 |
G |
A |
3: 103,494,943 (GRCm39) |
V303M |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,284,508 (GRCm39) |
I324M |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,315,080 (GRCm39) |
F330L |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,982,881 (GRCm39) |
L348Q |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,583 (GRCm39) |
I212F |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,870,972 (GRCm39) |
N770K |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation