Incidental Mutation 'R0094:Colgalt1'
| ID |
64007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colgalt1
|
| Ensembl Gene |
ENSMUSG00000034807 |
| Gene Name |
collagen beta(1-O)galactosyltransferase 1 |
| Synonyms |
2810024B22Rik, Glt25d1 |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72063642-72077555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72075802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 483
(V483A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030170]
[ENSMUST00000047903]
|
| AlphaFold |
Q8K297 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030170
|
| SMART Domains |
Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
3 |
94 |
5.23e-10 |
SMART |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
310 |
N/A |
INTRINSIC |
|
coiled coil region
|
321 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
450 |
N/A |
INTRINSIC |
|
PDB:2KDU|B
|
454 |
488 |
3e-16 |
PDB |
|
C1
|
563 |
612 |
3.93e-18 |
SMART |
|
C2
|
686 |
793 |
5.86e-22 |
SMART |
|
DUF1041
|
1002 |
1111 |
1.6e-56 |
SMART |
|
Pfam:Membr_traf_MHD
|
1355 |
1520 |
6.3e-53 |
PFAM |
|
C2
|
1555 |
1661 |
5.03e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047903
AA Change: V483A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: V483A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_4
|
56 |
176 |
4.6e-22 |
PFAM |
|
Pfam:Glyco_transf_25
|
335 |
520 |
8.8e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212216
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212706
|
| Meta Mutation Damage Score |
0.7971 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,462,567 (GRCm39) |
V626M |
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
| Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,820,689 (GRCm39) |
Y455H |
probably damaging |
Het |
| Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
| Gypa |
T |
A |
8: 81,227,560 (GRCm39) |
H69Q |
unknown |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Sirpb1c |
G |
T |
3: 15,892,922 (GRCm39) |
T94K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
| Spp2 |
T |
A |
1: 88,348,402 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,819 (GRCm39) |
H134R |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
| Other mutations in Colgalt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01312:Colgalt1
|
APN |
8 |
72,075,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01888:Colgalt1
|
APN |
8 |
72,070,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Colgalt1
|
APN |
8 |
72,075,731 (GRCm39) |
splice site |
probably null |
|
|
P0041:Colgalt1
|
UTSW |
8 |
72,075,434 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0094:Colgalt1
|
UTSW |
8 |
72,075,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1342:Colgalt1
|
UTSW |
8 |
72,070,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Colgalt1
|
UTSW |
8 |
72,073,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1754:Colgalt1
|
UTSW |
8 |
72,075,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Colgalt1
|
UTSW |
8 |
72,075,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1844:Colgalt1
|
UTSW |
8 |
72,063,995 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2050:Colgalt1
|
UTSW |
8 |
72,070,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2393:Colgalt1
|
UTSW |
8 |
72,076,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2406:Colgalt1
|
UTSW |
8 |
72,070,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3897:Colgalt1
|
UTSW |
8 |
72,072,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Colgalt1
|
UTSW |
8 |
72,075,350 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4909:Colgalt1
|
UTSW |
8 |
72,073,277 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5428:Colgalt1
|
UTSW |
8 |
72,075,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Colgalt1
|
UTSW |
8 |
72,075,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Colgalt1
|
UTSW |
8 |
72,074,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Colgalt1
|
UTSW |
8 |
72,076,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Colgalt1
|
UTSW |
8 |
72,076,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Colgalt1
|
UTSW |
8 |
72,076,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7691:Colgalt1
|
UTSW |
8 |
72,073,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7877:Colgalt1
|
UTSW |
8 |
72,074,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Colgalt1
|
UTSW |
8 |
72,076,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9719:Colgalt1
|
UTSW |
8 |
72,073,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0066:Colgalt1
|
UTSW |
8 |
72,076,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Colgalt1
|
UTSW |
8 |
72,075,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGACCGGGGACTACAGAAATCAC -3'
(R):5'- AGCCTTCTTACATTGGGTGCTTGTC -3'
Sequencing Primer
(F):5'- ACGTCTGATGAACCTCATGCG -3'
(R):5'- TTGTCAAACATGACAGGCAGAAAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation