Incidental Mutation 'IGL02900:Colgalt2'
| ID |
363549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Colgalt2
|
| Ensembl Gene |
ENSMUSG00000032649 |
| Gene Name |
collagen beta(1-O)galactosyltransferase 2 |
| Synonyms |
Glt25d2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL02900
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
152275581-152386446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 152384481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 607
(T607M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044311]
[ENSMUST00000127586]
|
| AlphaFold |
Q6NVG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044311
AA Change: T607M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: T607M
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
G |
T |
11: 99,728,774 (GRCm39) |
T23N |
possibly damaging |
Het |
| Angpt4 |
T |
A |
2: 151,753,391 (GRCm39) |
V47E |
probably damaging |
Het |
| Arhgef11 |
G |
A |
3: 87,640,467 (GRCm39) |
R1208Q |
probably benign |
Het |
| Calb1 |
T |
C |
4: 15,895,695 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
G |
T |
17: 45,941,540 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
T |
A |
8: 106,422,151 (GRCm39) |
I1140N |
probably damaging |
Het |
| Cnn3 |
A |
T |
3: 121,245,143 (GRCm39) |
T23S |
probably benign |
Het |
| Cyp46a1 |
T |
G |
12: 108,309,350 (GRCm39) |
V93G |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,227,344 (GRCm39) |
Y261C |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,878,886 (GRCm39) |
Y2715C |
probably damaging |
Het |
| Dsg1a |
G |
T |
18: 20,461,713 (GRCm39) |
|
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,785,421 (GRCm39) |
P862L |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,536,242 (GRCm39) |
T128A |
probably damaging |
Het |
| Gp9 |
G |
T |
6: 87,756,415 (GRCm39) |
W143C |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,706,879 (GRCm39) |
I670V |
probably damaging |
Het |
| Hoxa10 |
T |
C |
6: 52,209,541 (GRCm39) |
K77R |
possibly damaging |
Het |
| Kcna1 |
T |
G |
6: 126,620,057 (GRCm39) |
S88R |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,265,266 (GRCm39) |
S1758T |
possibly damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,427,837 (GRCm39) |
T182A |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,412,516 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,663,854 (GRCm39) |
S991P |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,872,184 (GRCm39) |
T2203S |
probably benign |
Het |
| Mxra8 |
A |
G |
4: 155,925,576 (GRCm39) |
E95G |
possibly damaging |
Het |
| Mxra8 |
A |
G |
4: 155,925,668 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or14j9 |
A |
G |
17: 37,874,740 (GRCm39) |
I154T |
possibly damaging |
Het |
| Or2f2 |
T |
A |
6: 42,767,808 (GRCm39) |
Y278* |
probably null |
Het |
| Or8g2b |
T |
A |
9: 39,751,108 (GRCm39) |
I126N |
probably damaging |
Het |
| Or8g4 |
A |
T |
9: 39,661,901 (GRCm39) |
H73L |
probably benign |
Het |
| Pbx4 |
A |
G |
8: 70,319,216 (GRCm39) |
E249G |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,750,830 (GRCm39) |
E1727G |
probably benign |
Het |
| Plec |
T |
G |
15: 76,070,414 (GRCm39) |
D932A |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,382,085 (GRCm39) |
F204I |
possibly damaging |
Het |
| Raph1 |
T |
C |
1: 60,542,022 (GRCm39) |
D364G |
probably damaging |
Het |
| Rps29 |
T |
A |
12: 69,205,825 (GRCm39) |
H3L |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,589,826 (GRCm39) |
C509* |
probably null |
Het |
| Srgap2 |
A |
T |
1: 131,339,534 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,598,209 (GRCm39) |
D243E |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,497,861 (GRCm39) |
L146P |
probably benign |
Het |
| Teddm3 |
G |
T |
16: 20,971,900 (GRCm39) |
T223K |
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,189,474 (GRCm39) |
N285Y |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,403,553 (GRCm39) |
D416V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,601 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn2r84 |
T |
C |
10: 130,223,861 (GRCm39) |
|
probably benign |
Het |
| Washc2 |
G |
T |
6: 116,204,435 (GRCm39) |
D362Y |
probably damaging |
Het |
| Wbp2nl |
T |
C |
15: 82,198,035 (GRCm39) |
S191P |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,079,865 (GRCm39) |
T307A |
probably damaging |
Het |
| Zfp970 |
T |
C |
2: 177,166,610 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
R4250:Colgalt2
|
UTSW |
1 |
152,365,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation