Incidental Mutation 'R6006:Colgalt2'
| ID |
479461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colgalt2
|
| Ensembl Gene |
ENSMUSG00000032649 |
| Gene Name |
collagen beta(1-O)galactosyltransferase 2 |
| Synonyms |
Glt25d2 |
| MMRRC Submission |
044183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
152275581-152386446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152348912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 186
(T186A)
|
| 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: T186A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: T186A
| 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: T186A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: T186A
| 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 |
0.1733 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,694,804 (GRCm39) |
I296T |
probably benign |
Het |
| Abcb4 |
C |
A |
5: 8,996,026 (GRCm39) |
T894K |
probably damaging |
Het |
| Acad12 |
C |
T |
5: 121,737,299 (GRCm39) |
V491I |
possibly damaging |
Het |
| Actr8 |
T |
A |
14: 29,706,099 (GRCm39) |
|
probably null |
Het |
| Adam7 |
A |
C |
14: 68,748,845 (GRCm39) |
D467E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 114,433,606 (GRCm39) |
C1043S |
probably damaging |
Het |
| Adgrb3 |
T |
G |
1: 25,865,612 (GRCm39) |
D77A |
possibly damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,761,426 (GRCm39) |
D1056E |
probably benign |
Het |
| Bco1 |
A |
G |
8: 117,840,330 (GRCm39) |
|
probably null |
Het |
| Btn2a2 |
A |
T |
13: 23,670,533 (GRCm39) |
W67R |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,759,666 (GRCm39) |
N269Y |
possibly damaging |
Het |
| Cand1 |
A |
G |
10: 119,045,933 (GRCm39) |
F991L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,835,597 (GRCm39) |
K234E |
possibly damaging |
Het |
| Cd14 |
T |
C |
18: 36,859,335 (GRCm39) |
D40G |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,493,177 (GRCm39) |
F386I |
probably damaging |
Het |
| Cdk14 |
C |
T |
5: 5,299,211 (GRCm39) |
M1I |
probably null |
Het |
| Cnpy3 |
A |
C |
17: 47,047,790 (GRCm39) |
S220A |
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,845,685 (GRCm39) |
V359A |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,696,105 (GRCm39) |
C2654F |
unknown |
Het |
| Cpsf4l |
A |
G |
11: 113,590,753 (GRCm39) |
V199A |
probably benign |
Het |
| Dhtkd1 |
G |
A |
2: 5,908,836 (GRCm39) |
Q753* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,852,825 (GRCm39) |
S1307P |
unknown |
Het |
| Fer1l6 |
T |
C |
15: 58,518,893 (GRCm39) |
V1675A |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,425,103 (GRCm39) |
L238P |
probably damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,811,832 (GRCm39) |
Y84H |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,998,854 (GRCm39) |
D318E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,581,359 (GRCm39) |
F715L |
probably damaging |
Het |
| Mlxip |
T |
C |
5: 123,583,721 (GRCm39) |
F428S |
possibly damaging |
Het |
| Morc3 |
T |
G |
16: 93,663,381 (GRCm39) |
I528R |
possibly damaging |
Het |
| Mtx1 |
C |
T |
3: 89,117,613 (GRCm39) |
G60D |
probably damaging |
Het |
| Mug2 |
G |
C |
6: 122,060,459 (GRCm39) |
Q1398H |
probably null |
Het |
| Mup8 |
T |
C |
4: 60,220,403 (GRCm39) |
I110V |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,309,522 (GRCm39) |
L12* |
probably null |
Het |
| Numa1 |
G |
A |
7: 101,641,926 (GRCm39) |
|
probably null |
Het |
| Or52e18 |
T |
G |
7: 104,609,870 (GRCm39) |
E23A |
probably damaging |
Het |
| Pbk |
C |
T |
14: 66,054,094 (GRCm39) |
P213L |
probably damaging |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,431,905 (GRCm39) |
H224Q |
possibly damaging |
Het |
| Pkp1 |
C |
G |
1: 135,805,406 (GRCm39) |
|
probably null |
Het |
| Rela |
A |
G |
19: 5,689,967 (GRCm39) |
N139S |
probably damaging |
Het |
| Rgs3 |
G |
A |
4: 62,542,143 (GRCm39) |
R39Q |
probably damaging |
Het |
| S1pr3 |
A |
G |
13: 51,573,731 (GRCm39) |
E304G |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Setmar |
T |
C |
6: 108,053,387 (GRCm39) |
S294P |
possibly damaging |
Het |
| Smc2 |
A |
G |
4: 52,459,024 (GRCm39) |
N473S |
probably benign |
Het |
| Ssr1 |
TCTCTTTC |
T |
13: 38,169,972 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
A |
G |
6: 59,187,762 (GRCm39) |
I210V |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,719,555 (GRCm39) |
F93L |
possibly damaging |
Het |
| U2surp |
T |
C |
9: 95,361,360 (GRCm39) |
Y633C |
probably damaging |
Het |
| Usp18 |
A |
T |
6: 121,239,781 (GRCm39) |
E292V |
possibly damaging |
Het |
| Usp32 |
A |
C |
11: 84,883,277 (GRCm39) |
|
probably null |
Het |
| Utp18 |
T |
C |
11: 93,776,449 (GRCm39) |
D12G |
probably benign |
Het |
| Vmn1r216 |
C |
A |
13: 23,283,928 (GRCm39) |
H204N |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,241,372 (GRCm39) |
V626A |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,761,809 (GRCm39) |
V619E |
probably null |
Het |
| Wwc1 |
T |
C |
11: 35,780,100 (GRCm39) |
D285G |
probably damaging |
Het |
| Zfp3 |
A |
T |
11: 70,662,590 (GRCm39) |
Q183L |
probably benign |
Het |
| Zfp955a |
A |
G |
17: 33,460,660 (GRCm39) |
C491R |
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 |
|
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 |
|
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'- TTTATGTACCCACTGAGGCGG -3'
(R):5'- TTCTTGACCATCAGTGACAACAC -3'
Sequencing Primer
(F):5'- CGGTACTAGTTCACAGCTTAGAGC -3'
(R):5'- GTGACAACACATCCATCTAAGGAGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation