Incidental Mutation 'R2406:Colgalt1'
| ID |
248010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colgalt1
|
| Ensembl Gene |
ENSMUSG00000034807 |
| Gene Name |
collagen beta(1-O)galactosyltransferase 1 |
| Synonyms |
2810024B22Rik, Glt25d1 |
| MMRRC Submission |
040372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R2406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72063642-72077555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72070312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 198
(C198Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047903]
|
| AlphaFold |
Q8K297 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047903
AA Change: C198Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: C198Y
| 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 |
0.9257 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (42/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,344 (GRCm39) |
I180V |
possibly damaging |
Het |
| C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
| Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
| Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
| Hsf2 |
C |
T |
10: 57,373,642 (GRCm39) |
T70I |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
| Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,279 (GRCm39) |
V690A |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
| Pacsin2 |
A |
T |
15: 83,269,313 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
| Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
| Sgta |
T |
C |
10: 80,887,081 (GRCm39) |
I61M |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 44,006,376 (GRCm39) |
D2031G |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,025 (GRCm39) |
F385L |
probably benign |
Het |
| Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
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 |
|
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 |
|
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'- TTTTACTGAGCCACCACAGAGG -3'
(R):5'- TGAATTTGGGCCAGATTCTCAC -3'
Sequencing Primer
(F):5'- ATTGAGAGAACTCGGGCTCC -3'
(R):5'- GGCCAGATTCTCACCACCAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation