Incidental Mutation 'R6837:Colgalt2'
| ID |
537888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colgalt2
|
| Ensembl Gene |
ENSMUSG00000032649 |
| Gene Name |
collagen beta(1-O)galactosyltransferase 2 |
| Synonyms |
Glt25d2 |
| MMRRC Submission |
044945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
152399830-152510695 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 152506828 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 477
(P477L)
|
| 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: P477L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: P477L
| 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 |
|
| Meta Mutation Damage Score |
0.3743 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 53,141,262 (GRCm38) |
E1820K |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 34,092,554 (GRCm38) |
I116F |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,075,515 (GRCm38) |
D890G |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,057,298 (GRCm38) |
T396I |
possibly damaging |
Het |
| C2cd3 |
G |
C |
7: 100,448,746 (GRCm38) |
E594Q |
probably damaging |
Het |
| D11Wsu47e |
A |
G |
11: 113,688,613 (GRCm38) |
H278R |
possibly damaging |
Het |
| Dennd3 |
G |
A |
15: 73,557,693 (GRCm38) |
D20N |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,437,882 (GRCm38) |
I109T |
probably benign |
Het |
| Fas |
A |
T |
19: 34,307,164 (GRCm38) |
T24S |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,726,973 (GRCm38) |
I2332F |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,158,308 (GRCm38) |
H32R |
probably benign |
Het |
| Hcfc2 |
A |
T |
10: 82,739,196 (GRCm38) |
I230F |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,287,464 (GRCm38) |
T673A |
probably benign |
Het |
| Herc2 |
T |
G |
7: 56,189,841 (GRCm38) |
N3366K |
possibly damaging |
Het |
| Hhla1 |
T |
C |
15: 65,948,485 (GRCm38) |
N139D |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 123,998,865 (GRCm38) |
E632G |
possibly damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,458,502 (GRCm38) |
D98G |
probably damaging |
Het |
| Maip1 |
T |
A |
1: 57,415,732 (GRCm38) |
*292K |
probably null |
Het |
| Map2 |
T |
C |
1: 66,414,572 (GRCm38) |
F874L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,922,956 (GRCm38) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,070,854 (GRCm38) |
|
probably null |
Het |
| Npy5r |
T |
A |
8: 66,681,740 (GRCm38) |
M134L |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,659,709 (GRCm38) |
M225K |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,694,051 (GRCm38) |
T634I |
probably damaging |
Het |
| Olfr583 |
T |
A |
7: 103,051,722 (GRCm38) |
Y141* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,439,084 (GRCm38) |
S1667G |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,649,527 (GRCm38) |
I328T |
possibly damaging |
Het |
| Pkd2 |
T |
G |
5: 104,477,043 (GRCm38) |
L235W |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,178,928 (GRCm38) |
D66V |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,403,070 (GRCm38) |
N105S |
probably benign |
Het |
| Sla |
A |
T |
15: 66,787,090 (GRCm38) |
I144N |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 76,062,386 (GRCm38) |
I498N |
possibly damaging |
Het |
| Snx14 |
C |
T |
9: 88,380,223 (GRCm38) |
E872K |
probably benign |
Het |
| Stx16 |
G |
A |
2: 174,094,002 (GRCm38) |
R242H |
probably benign |
Het |
| Tg |
T |
C |
15: 66,696,135 (GRCm38) |
F1296S |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,222,418 (GRCm38) |
|
probably benign |
Het |
| Tmf1 |
G |
A |
6: 97,176,581 (GRCm38) |
T177M |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,217,394 (GRCm38) |
Q14R |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,310,202 (GRCm38) |
M309V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,910,222 (GRCm38) |
P1059S |
probably benign |
Het |
| Yars |
T |
A |
4: 129,209,751 (GRCm38) |
S298T |
possibly damaging |
Het |
|
| Other mutations in Colgalt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Colgalt2
|
APN |
1 |
152,506,878 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02900:Colgalt2
|
APN |
1 |
152,508,730 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0280:Colgalt2
|
UTSW |
1 |
152,508,561 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0282:Colgalt2
|
UTSW |
1 |
152,508,561 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0328:Colgalt2
|
UTSW |
1 |
152,473,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0409:Colgalt2
|
UTSW |
1 |
152,508,561 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0412:Colgalt2
|
UTSW |
1 |
152,508,561 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0485:Colgalt2
|
UTSW |
1 |
152,484,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0518:Colgalt2
|
UTSW |
1 |
152,508,561 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0519:Colgalt2
|
UTSW |
1 |
152,508,561 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0556:Colgalt2
|
UTSW |
1 |
152,471,813 (GRCm38) |
splice site |
probably benign |
|
|
R0605:Colgalt2
|
UTSW |
1 |
152,495,792 (GRCm38) |
splice site |
probably benign |
|
|
R0628:Colgalt2
|
UTSW |
1 |
152,508,561 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0972:Colgalt2
|
UTSW |
1 |
152,471,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1170:Colgalt2
|
UTSW |
1 |
152,503,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1373:Colgalt2
|
UTSW |
1 |
152,473,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1452:Colgalt2
|
UTSW |
1 |
152,504,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1456:Colgalt2
|
UTSW |
1 |
152,484,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1544:Colgalt2
|
UTSW |
1 |
152,484,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1707:Colgalt2
|
UTSW |
1 |
152,400,363 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2285:Colgalt2
|
UTSW |
1 |
152,468,550 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2917:Colgalt2
|
UTSW |
1 |
152,471,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3916:Colgalt2
|
UTSW |
1 |
152,508,611 (GRCm38) |
nonsense |
probably null |
|
|
R3917:Colgalt2
|
UTSW |
1 |
152,508,611 (GRCm38) |
nonsense |
probably null |
|
|
R4250:Colgalt2
|
UTSW |
1 |
152,489,887 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4282:Colgalt2
|
UTSW |
1 |
152,468,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4421:Colgalt2
|
UTSW |
1 |
152,485,012 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4583:Colgalt2
|
UTSW |
1 |
152,506,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4743:Colgalt2
|
UTSW |
1 |
152,400,343 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4751:Colgalt2
|
UTSW |
1 |
152,489,876 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4832:Colgalt2
|
UTSW |
1 |
152,484,998 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4930:Colgalt2
|
UTSW |
1 |
152,499,959 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5319:Colgalt2
|
UTSW |
1 |
152,484,869 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5504:Colgalt2
|
UTSW |
1 |
152,400,303 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5916:Colgalt2
|
UTSW |
1 |
152,504,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6006:Colgalt2
|
UTSW |
1 |
152,473,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6362:Colgalt2
|
UTSW |
1 |
152,471,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7464:Colgalt2
|
UTSW |
1 |
152,504,144 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8462:Colgalt2
|
UTSW |
1 |
152,503,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8725:Colgalt2
|
UTSW |
1 |
152,484,911 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8727:Colgalt2
|
UTSW |
1 |
152,484,911 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9118:Colgalt2
|
UTSW |
1 |
152,503,155 (GRCm38) |
intron |
probably benign |
|
|
R9186:Colgalt2
|
UTSW |
1 |
152,508,652 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9393:Colgalt2
|
UTSW |
1 |
152,484,847 (GRCm38) |
nonsense |
probably null |
|
|
R9611:Colgalt2
|
UTSW |
1 |
152,484,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Colgalt2
|
UTSW |
1 |
152,471,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGTGGTATGCATTAGGAAAAG -3'
(R):5'- ACCCAGGAGGCTAAGTTTGTG -3'
Sequencing Primer
(F):5'- GACACAAGAGTCCAGGCTTTAAAAC -3'
(R):5'- GCTAAGTTTGTGAACAGTATGTGACC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation