Incidental Mutation 'R0328:Colgalt2'
ID |
25817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Colgalt2
|
Ensembl Gene |
ENSMUSG00000032649 |
Gene Name |
collagen beta(1-O)galactosyltransferase 2 |
Synonyms |
Glt25d2 |
MMRRC Submission |
038537-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0328 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
152275581-152386446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 152348859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 168
(D168V)
|
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: D168V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037532 Gene: ENSMUSG00000032649 AA Change: D168V
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: D168V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119210 Gene: ENSMUSG00000032649 AA Change: D168V
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 |
0.9569 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.5%
- 20x: 90.8%
|
Validation Efficiency |
96% (46/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,574,624 (GRCm39) |
H618L |
possibly damaging |
Het |
Aacs |
T |
C |
5: 125,593,323 (GRCm39) |
V642A |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,587,796 (GRCm39) |
|
probably null |
Het |
Arhgap39 |
A |
G |
15: 76,636,152 (GRCm39) |
|
probably benign |
Het |
Bard1 |
C |
T |
1: 71,085,921 (GRCm39) |
V595I |
probably benign |
Het |
Bptf |
T |
C |
11: 106,937,953 (GRCm39) |
K2713E |
probably damaging |
Het |
Calhm1 |
C |
T |
19: 47,129,742 (GRCm39) |
G260D |
possibly damaging |
Het |
Ccdc154 |
A |
C |
17: 25,390,779 (GRCm39) |
K643T |
probably benign |
Het |
Ccl4 |
T |
A |
11: 83,554,383 (GRCm39) |
S59T |
probably damaging |
Het |
Cntd1 |
T |
C |
11: 101,174,259 (GRCm39) |
S73P |
probably benign |
Het |
Fam117a |
T |
C |
11: 95,266,452 (GRCm39) |
|
probably benign |
Het |
Fat1 |
A |
G |
8: 45,476,827 (GRCm39) |
T1935A |
probably benign |
Het |
Fbxw21 |
T |
A |
9: 108,975,653 (GRCm39) |
I248F |
possibly damaging |
Het |
Fhod3 |
A |
T |
18: 25,246,657 (GRCm39) |
M1288L |
probably benign |
Het |
Gm5114 |
T |
G |
7: 39,057,885 (GRCm39) |
K578T |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,727,496 (GRCm39) |
|
probably benign |
Het |
Helz |
G |
T |
11: 107,495,174 (GRCm39) |
A383S |
probably benign |
Het |
Ift172 |
C |
A |
5: 31,421,195 (GRCm39) |
E968* |
probably null |
Het |
Itpripl1 |
T |
C |
2: 126,983,924 (GRCm39) |
N66S |
possibly damaging |
Het |
Kcnma1 |
A |
G |
14: 23,423,265 (GRCm39) |
Y686H |
probably damaging |
Het |
Ndrg1 |
C |
A |
15: 66,815,008 (GRCm39) |
|
probably benign |
Het |
Ogdh |
T |
C |
11: 6,297,216 (GRCm39) |
V545A |
probably benign |
Het |
Or10al5 |
A |
G |
17: 38,063,284 (GRCm39) |
I180V |
possibly damaging |
Het |
P3h3 |
G |
A |
6: 124,831,269 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
A |
T |
7: 99,983,182 (GRCm39) |
|
probably null |
Het |
Prkag1 |
T |
G |
15: 98,713,563 (GRCm39) |
D44A |
probably damaging |
Het |
Prpf39 |
T |
C |
12: 65,090,145 (GRCm39) |
|
probably benign |
Het |
Rabep1 |
C |
A |
11: 70,810,033 (GRCm39) |
R489S |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,523,168 (GRCm39) |
V75A |
possibly damaging |
Het |
Sema3d |
T |
C |
5: 12,498,042 (GRCm39) |
L16P |
possibly damaging |
Het |
Skida1 |
T |
C |
2: 18,051,997 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
T |
C |
7: 27,063,595 (GRCm39) |
Y2277C |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,298,945 (GRCm39) |
I1047T |
possibly damaging |
Het |
Syt17 |
A |
G |
7: 117,981,216 (GRCm39) |
Y369H |
probably benign |
Het |
Tmem131l |
C |
T |
3: 83,829,238 (GRCm39) |
|
probably benign |
Het |
Traf3ip2 |
A |
T |
10: 39,510,669 (GRCm39) |
D314V |
probably damaging |
Het |
Ttc28 |
T |
G |
5: 111,431,933 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
C |
7: 45,874,872 (GRCm39) |
|
probably benign |
Het |
Utp20 |
A |
T |
10: 88,602,969 (GRCm39) |
Y1884N |
possibly damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,824,251 (GRCm39) |
I502K |
probably benign |
Het |
Vmn2r60 |
T |
C |
7: 41,791,744 (GRCm39) |
|
probably benign |
Het |
Vmn2r63 |
T |
C |
7: 42,552,699 (GRCm39) |
I852M |
probably benign |
Het |
Vmn2r9 |
T |
A |
5: 108,995,405 (GRCm39) |
E414D |
probably benign |
Het |
Wnt4 |
A |
G |
4: 137,022,754 (GRCm39) |
T106A |
probably damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,807 (GRCm39) |
N76K |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,309,445 (GRCm39) |
T885A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTAGGAACCACTGACATCTCG -3'
(R):5'- GAAGGAAGAGCAGGCTACTGTTCAC -3'
Sequencing Primer
(F):5'- AATCATTTGCCAGTGTGTAGC -3'
(R):5'- CGTGGTCCTGCCCTCTC -3'
|
Posted On |
2013-04-16 |