Incidental Mutation 'R4743:Colgalt2'
| ID |
358162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colgalt2
|
| Ensembl Gene |
ENSMUSG00000032649 |
| Gene Name |
collagen beta(1-O)galactosyltransferase 2 |
| Synonyms |
Glt25d2 |
| MMRRC Submission |
041967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
152399830-152510695 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152400343 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 69
(Y69C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044311]
[ENSMUST00000127586]
|
| AlphaFold |
Q6NVG7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044311
AA Change: Y69C
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: Y69C
| 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: Y69C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: Y69C
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
A |
G |
1: 85,931,251 (GRCm38) |
|
probably benign |
Het |
| Ahcy |
T |
C |
2: 155,068,968 (GRCm38) |
N27D |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 3,961,013 (GRCm38) |
L572R |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,378,613 (GRCm38) |
S909P |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,862,792 (GRCm38) |
E54G |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,913,911 (GRCm38) |
S1417P |
probably benign |
Het |
| Comp |
A |
G |
8: 70,376,061 (GRCm38) |
E181G |
probably damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,370,409 (GRCm38) |
S326T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,830,056 (GRCm38) |
E253G |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,097,715 (GRCm38) |
D499E |
probably damaging |
Het |
| Epha1 |
G |
T |
6: 42,372,221 (GRCm38) |
T36K |
probably benign |
Het |
| Ewsr1 |
A |
T |
11: 5,083,541 (GRCm38) |
D210E |
unknown |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,772,279 (GRCm38) |
R862* |
probably null |
Het |
| Gbp8 |
T |
C |
5: 105,030,841 (GRCm38) |
K203E |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,365,248 (GRCm38) |
L79* |
probably null |
Het |
| Gm8220 |
T |
A |
14: 44,285,695 (GRCm38) |
|
probably benign |
Het |
| Gm9755 |
A |
T |
8: 67,514,277 (GRCm38) |
|
noncoding transcript |
Het |
| Il6 |
T |
C |
5: 30,018,044 (GRCm38) |
Y120H |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,803,202 (GRCm38) |
T2A |
probably damaging |
Het |
| Mroh9 |
T |
C |
1: 163,024,492 (GRCm38) |
Y876C |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,571,120 (GRCm38) |
Y601C |
probably damaging |
Het |
| Rabgap1l |
G |
T |
1: 160,453,783 (GRCm38) |
Q623K |
probably damaging |
Het |
| Rad9a |
G |
A |
19: 4,200,561 (GRCm38) |
R85C |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,173,068 (GRCm38) |
Y109C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 37,453,698 (GRCm38) |
Q4H |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,578,381 (GRCm38) |
I139V |
probably benign |
Het |
| Slain2 |
T |
A |
5: 72,957,584 (GRCm38) |
L386* |
probably null |
Het |
| Slc4a7 |
A |
G |
14: 14,796,073 (GRCm38) |
|
probably null |
Het |
| Slco1c1 |
T |
C |
6: 141,564,516 (GRCm38) |
C582R |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,836,293 (GRCm38) |
N520D |
probably benign |
Het |
| Tbc1d7 |
A |
G |
13: 43,169,849 (GRCm38) |
V22A |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,443,710 (GRCm38) |
V612A |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,592,801 (GRCm38) |
E488G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,754,824 (GRCm38) |
I22042F |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,209,756 (GRCm38) |
Y439C |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,684,091 (GRCm38) |
|
probably null |
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 |
|
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 |
|
R6837:Colgalt2
|
UTSW |
1 |
152,506,828 (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'- TCAGAAATCAGTGCCGGTGC -3'
(R):5'- AGGTCTCCAGATTCTCGTCC -3'
Sequencing Primer
(F):5'- TACGGAACATGGCTGCG -3'
(R):5'- AGGTCTCCAGATTCTCGTCCATAGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation