Incidental Mutation 'R5096:Colq'
| ID |
388052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colq
|
| Ensembl Gene |
ENSMUSG00000057606 |
| Gene Name |
collagen like tail subunit of asymmetric acetylcholinesterase |
| Synonyms |
|
| MMRRC Submission |
042685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5096 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31245039-31299820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31274911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 76
(E76K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112027]
[ENSMUST00000124014]
[ENSMUST00000150054]
[ENSMUST00000167175]
|
| AlphaFold |
O35348 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112027
AA Change: E86K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: E86K
| 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 |
possibly damaging
Transcript: ENSMUST00000124014
AA Change: E32K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150054
AA Change: E76K
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: E76K
| 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 |
|
| Meta Mutation Damage Score |
0.1671 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
| Validation Efficiency |
95% (61/64) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,916,679 (GRCm39) |
|
probably benign |
Het |
| Adar |
T |
A |
3: 89,654,598 (GRCm39) |
*728C |
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,616,357 (GRCm39) |
R753G |
unknown |
Het |
| Atp9b |
C |
T |
18: 80,805,399 (GRCm39) |
V720I |
probably benign |
Het |
| AY358078 |
A |
C |
14: 52,063,575 (GRCm39) |
D407A |
probably benign |
Het |
| Ccdc185 |
A |
G |
1: 182,576,354 (GRCm39) |
S112P |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,134,105 (GRCm39) |
S155P |
probably damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,947,815 (GRCm39) |
I104N |
probably damaging |
Het |
| D930020B18Rik |
A |
T |
10: 121,503,709 (GRCm39) |
I92L |
probably benign |
Het |
| Eif3i |
C |
T |
4: 129,494,237 (GRCm39) |
E21K |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,137,234 (GRCm39) |
M59K |
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,002,761 (GRCm39) |
S79P |
probably benign |
Het |
| Fam181b |
T |
G |
7: 92,730,452 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,821,460 (GRCm39) |
S5731N |
probably benign |
Het |
| Fzd9 |
C |
T |
5: 135,278,713 (GRCm39) |
V391I |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm10715 |
T |
C |
9: 3,038,157 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,653,049 (GRCm39) |
K418M |
probably damaging |
Het |
| H2-Q4 |
T |
A |
17: 35,598,689 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,486,420 (GRCm39) |
A4329S |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,714,197 (GRCm39) |
|
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,067,313 (GRCm39) |
T26A |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,472,300 (GRCm39) |
N380K |
probably benign |
Het |
| Inpp5e |
G |
T |
2: 26,289,537 (GRCm39) |
N482K |
probably damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,363,657 (GRCm39) |
V866M |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,260 (GRCm39) |
V492A |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,068 (GRCm39) |
R647G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,000,691 (GRCm39) |
V75G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,316,137 (GRCm39) |
I752V |
possibly damaging |
Het |
| Mmp17 |
C |
A |
5: 129,682,627 (GRCm39) |
P422Q |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,464,254 (GRCm39) |
H165L |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,576,955 (GRCm39) |
T494I |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,815 (GRCm39) |
V228A |
possibly damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,646 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,667 (GRCm39) |
Y68H |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,276 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,545,092 (GRCm39) |
V27G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,398,451 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
G |
4: 111,839,152 (GRCm39) |
I149V |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,928,612 (GRCm39) |
I412K |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,340,082 (GRCm39) |
C407S |
probably benign |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,025,290 (GRCm39) |
I426N |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,203,990 (GRCm39) |
|
probably benign |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,819 (GRCm39) |
E51G |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 72,011,353 (GRCm39) |
L34P |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,669,862 (GRCm39) |
T90A |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,321,953 (GRCm39) |
D42G |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 104,973,470 (GRCm39) |
T237A |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TCTTCAGGATGCTGAGGCTG -3'
(R):5'- TGCCTACAGTCTCTTACAACATG -3'
Sequencing Primer
(F):5'- CTGAGGCTGGAGAGAAGCTAC -3'
(R):5'- CAGAAGTTCCCACTGCA -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation