Incidental Mutation 'R4282:Colgalt2'
ID |
322923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Colgalt2
|
Ensembl Gene |
ENSMUSG00000032649 |
Gene Name |
collagen beta(1-O)galactosyltransferase 2 |
Synonyms |
Glt25d2 |
MMRRC Submission |
041650-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R4282 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
152275581-152386446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 152344282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 115
(V115M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044311]
[ENSMUST00000127586]
|
AlphaFold |
Q6NVG7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044311
AA Change: V115M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037532 Gene: ENSMUSG00000032649 AA Change: V115M
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 damaging
Transcript: ENSMUST00000127586
AA Change: V115M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119210 Gene: ENSMUSG00000032649 AA Change: V115M
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 |
|
Meta Mutation Damage Score |
0.2172 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (59/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700092K14Rik |
A |
C |
11: 114,089,970 (GRCm39) |
|
noncoding transcript |
Het |
Abca17 |
G |
T |
17: 24,518,034 (GRCm39) |
D758E |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,885,155 (GRCm39) |
V65A |
possibly damaging |
Het |
Adgra2 |
T |
A |
8: 27,609,272 (GRCm39) |
M616K |
possibly damaging |
Het |
Aldh3b2 |
A |
G |
19: 4,027,636 (GRCm39) |
D59G |
probably benign |
Het |
Ankrd28 |
A |
G |
14: 31,467,182 (GRCm39) |
V260A |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,627,720 (GRCm39) |
V689A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,302,296 (GRCm39) |
F1653S |
probably benign |
Het |
Cd55b |
T |
C |
1: 130,344,596 (GRCm39) |
D213G |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,447,427 (GRCm39) |
V1138A |
probably damaging |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Dus2 |
C |
T |
8: 106,775,286 (GRCm39) |
A271V |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fancg |
T |
C |
4: 43,003,830 (GRCm39) |
D533G |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,340,770 (GRCm39) |
V1021A |
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Hspb6 |
T |
C |
7: 30,252,889 (GRCm39) |
S44P |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,646,190 (GRCm39) |
I50V |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,269,515 (GRCm39) |
N476S |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,722,946 (GRCm39) |
D810G |
probably damaging |
Het |
Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
Maml2 |
C |
A |
9: 13,531,406 (GRCm39) |
L207I |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,345,089 (GRCm39) |
E508D |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,385,651 (GRCm39) |
|
probably benign |
Het |
Ndrg3 |
A |
T |
2: 156,790,214 (GRCm39) |
C90S |
possibly damaging |
Het |
Orc1 |
A |
G |
4: 108,463,471 (GRCm39) |
S663G |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,583,195 (GRCm39) |
L767H |
probably damaging |
Het |
Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
Por |
C |
A |
5: 135,744,815 (GRCm39) |
T26K |
possibly damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
Qsox1 |
T |
A |
1: 155,662,671 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
T |
A |
12: 11,506,465 (GRCm39) |
V129D |
probably benign |
Het |
Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
Rxfp2 |
T |
G |
5: 149,993,735 (GRCm39) |
V585G |
possibly damaging |
Het |
Sftpd |
G |
A |
14: 40,894,537 (GRCm39) |
T294I |
probably benign |
Het |
Sh3gl1 |
A |
G |
17: 56,343,456 (GRCm39) |
S2P |
probably damaging |
Het |
Slc38a10 |
A |
T |
11: 120,020,090 (GRCm39) |
F321I |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,074,687 (GRCm39) |
|
probably null |
Het |
Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
Slit1 |
T |
C |
19: 41,602,856 (GRCm39) |
E985G |
probably benign |
Het |
Smurf1 |
C |
T |
5: 144,819,403 (GRCm39) |
E575K |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
Tmem182 |
T |
C |
1: 40,877,530 (GRCm39) |
I135T |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,073,922 (GRCm39) |
Y298C |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,462,641 (GRCm39) |
C1026R |
probably damaging |
Het |
Troap |
A |
G |
15: 98,976,713 (GRCm39) |
D279G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,800,606 (GRCm39) |
C579S |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,275,045 (GRCm39) |
D126G |
probably 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 |
|
R4250:Colgalt2
|
UTSW |
1 |
152,365,638 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AAGCTCTCACTTCAGATGTCCTG -3'
(R):5'- TAGAAGAAAAGGCCACATTTGC -3'
Sequencing Primer
(F):5'- TCTAGTGTGGTCCATGAGAGAAGTAC -3'
(R):5'- GCCACATTTGCAAGTCAGATG -3'
|
Posted On |
2015-06-20 |