Incidental Mutation 'R4250:Colgalt2'
| ID |
321293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colgalt2
|
| Ensembl Gene |
ENSMUSG00000032649 |
| Gene Name |
collagen beta(1-O)galactosyltransferase 2 |
| Synonyms |
Glt25d2 |
| MMRRC Submission |
041066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
152275581-152386446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152365638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 313
(I313L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044311]
[ENSMUST00000127586]
|
| AlphaFold |
Q6NVG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044311
AA Change: I313L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: I313L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_4
|
61 |
181 |
1.3e-20 |
PFAM |
|
Pfam:Glyco_transf_25
|
340 |
525 |
5.8e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127586
AA Change: I313L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: I313L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_4
|
61 |
181 |
4.3e-17 |
PFAM |
|
Pfam:Glyco_transf_25
|
340 |
466 |
3.2e-37 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1d |
C |
T |
9: 88,613,706 (GRCm39) |
V23I |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,936 (GRCm39) |
L552M |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,021,890 (GRCm39) |
L319Q |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,564,726 (GRCm39) |
T296A |
unknown |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Ezr |
A |
T |
17: 7,022,196 (GRCm39) |
I94N |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,233,825 (GRCm39) |
I99S |
probably damaging |
Het |
| Hba-x |
T |
C |
11: 32,228,000 (GRCm39) |
Y155H |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,893,501 (GRCm39) |
V921D |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,949,035 (GRCm39) |
T796A |
probably damaging |
Het |
| Igkv8-26 |
G |
A |
6: 70,170,230 (GRCm39) |
V7I |
probably benign |
Het |
| Ikzf1 |
C |
T |
11: 11,704,166 (GRCm39) |
T194M |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,368 (GRCm39) |
M259V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,633,857 (GRCm39) |
Y38C |
probably damaging |
Het |
| Pilra |
A |
T |
5: 137,821,814 (GRCm39) |
S274T |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,077,869 (GRCm39) |
V27A |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,559,579 (GRCm39) |
V414A |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Sirt1 |
T |
A |
10: 63,172,877 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
G |
5: 31,195,062 (GRCm39) |
S512P |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,267,327 (GRCm39) |
T160S |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,617 (GRCm39) |
I298V |
probably benign |
Het |
| Trmt9b |
C |
A |
8: 36,979,366 (GRCm39) |
T323K |
probably benign |
Het |
| Ttc4 |
G |
A |
4: 106,522,880 (GRCm39) |
T346I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,056 (GRCm39) |
T32977A |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 19,975,685 (GRCm39) |
K114E |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,020 (GRCm39) |
V133A |
possibly damaging |
Het |
|
| Other mutations in Colgalt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Colgalt2
|
APN |
1 |
152,382,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02900:Colgalt2
|
APN |
1 |
152,384,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0280:Colgalt2
|
UTSW |
1 |
152,384,312 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0282:Colgalt2
|
UTSW |
1 |
152,384,312 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0328:Colgalt2
|
UTSW |
1 |
152,348,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Colgalt2
|
UTSW |
1 |
152,384,312 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0412:Colgalt2
|
UTSW |
1 |
152,384,312 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0485:Colgalt2
|
UTSW |
1 |
152,360,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Colgalt2
|
UTSW |
1 |
152,384,312 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0519:Colgalt2
|
UTSW |
1 |
152,384,312 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0556:Colgalt2
|
UTSW |
1 |
152,347,564 (GRCm39) |
splice site |
probably benign |
|
|
R0605:Colgalt2
|
UTSW |
1 |
152,371,543 (GRCm39) |
splice site |
probably benign |
|
|
R0628:Colgalt2
|
UTSW |
1 |
152,384,312 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0972:Colgalt2
|
UTSW |
1 |
152,347,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Colgalt2
|
UTSW |
1 |
152,378,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1373:Colgalt2
|
UTSW |
1 |
152,348,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Colgalt2
|
UTSW |
1 |
152,379,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Colgalt2
|
UTSW |
1 |
152,360,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Colgalt2
|
UTSW |
1 |
152,360,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Colgalt2
|
UTSW |
1 |
152,276,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2285:Colgalt2
|
UTSW |
1 |
152,344,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2917:Colgalt2
|
UTSW |
1 |
152,347,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3916:Colgalt2
|
UTSW |
1 |
152,384,362 (GRCm39) |
nonsense |
probably null |
|
|
R3917:Colgalt2
|
UTSW |
1 |
152,384,362 (GRCm39) |
nonsense |
probably null |
|
|
R4282:Colgalt2
|
UTSW |
1 |
152,344,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Colgalt2
|
UTSW |
1 |
152,360,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Colgalt2
|
UTSW |
1 |
152,382,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Colgalt2
|
UTSW |
1 |
152,276,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4751:Colgalt2
|
UTSW |
1 |
152,365,627 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4832:Colgalt2
|
UTSW |
1 |
152,360,749 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4930:Colgalt2
|
UTSW |
1 |
152,375,710 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5319:Colgalt2
|
UTSW |
1 |
152,360,620 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5504:Colgalt2
|
UTSW |
1 |
152,276,054 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5916:Colgalt2
|
UTSW |
1 |
152,379,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Colgalt2
|
UTSW |
1 |
152,348,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Colgalt2
|
UTSW |
1 |
152,347,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Colgalt2
|
UTSW |
1 |
152,382,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Colgalt2
|
UTSW |
1 |
152,379,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8462:Colgalt2
|
UTSW |
1 |
152,378,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Colgalt2
|
UTSW |
1 |
152,360,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8727:Colgalt2
|
UTSW |
1 |
152,360,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9118:Colgalt2
|
UTSW |
1 |
152,378,906 (GRCm39) |
intron |
probably benign |
|
|
R9186:Colgalt2
|
UTSW |
1 |
152,384,403 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9393:Colgalt2
|
UTSW |
1 |
152,360,598 (GRCm39) |
nonsense |
probably null |
|
|
R9611:Colgalt2
|
UTSW |
1 |
152,360,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Colgalt2
|
UTSW |
1 |
152,347,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTTGGACTTCAGCATTGAAC -3'
(R):5'- GGGCAGATGAATGTCTGTACTTC -3'
Sequencing Primer
(F):5'- GGACTTCAGCATTGAACTCATGTCAG -3'
(R):5'- CTTCAGCCTAGACATAGTTGTAGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation