Incidental Mutation 'R0626:Col6a6'
ID |
57509 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col6a6
|
Ensembl Gene |
ENSMUSG00000043719 |
Gene Name |
collagen, type VI, alpha 6 |
Synonyms |
E330026B02Rik |
MMRRC Submission |
038815-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0626 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
105566616-105705413 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105654943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 926
(E926G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060896]
[ENSMUST00000098441]
[ENSMUST00000166431]
|
AlphaFold |
Q8C6K9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060896
AA Change: E926G
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000060840 Gene: ENSMUSG00000043719 AA Change: E926G
Domain | Start | End | E-Value | Type |
VWA
|
24 |
197 |
4.26e-26 |
SMART |
VWA
|
226 |
407 |
1.06e-30 |
SMART |
VWA
|
433 |
610 |
5.19e-39 |
SMART |
VWA
|
619 |
795 |
3.58e-42 |
SMART |
VWA
|
806 |
982 |
6.64e-37 |
SMART |
VWA
|
997 |
1175 |
2.7e-37 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098441
AA Change: E926G
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000096040 Gene: ENSMUSG00000043719 AA Change: E926G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
VWA
|
24 |
197 |
4.26e-26 |
SMART |
VWA
|
226 |
407 |
1.06e-30 |
SMART |
VWA
|
433 |
610 |
5.19e-39 |
SMART |
VWA
|
619 |
795 |
3.58e-42 |
SMART |
VWA
|
806 |
982 |
6.64e-37 |
SMART |
VWA
|
997 |
1175 |
2.7e-37 |
SMART |
VWA
|
1184 |
1370 |
3.45e-1 |
SMART |
Pfam:Collagen
|
1389 |
1450 |
3.3e-9 |
PFAM |
low complexity region
|
1451 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1508 |
N/A |
INTRINSIC |
low complexity region
|
1602 |
1623 |
N/A |
INTRINSIC |
low complexity region
|
1698 |
1724 |
N/A |
INTRINSIC |
VWA
|
1754 |
1937 |
1.73e-17 |
SMART |
VWA
|
1962 |
2145 |
4.4e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166431
AA Change: E926G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000125765 Gene: ENSMUSG00000043719 AA Change: E926G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
VWA
|
24 |
197 |
4.26e-26 |
SMART |
VWA
|
226 |
407 |
1.06e-30 |
SMART |
VWA
|
433 |
610 |
5.19e-39 |
SMART |
VWA
|
619 |
795 |
3.58e-42 |
SMART |
VWA
|
806 |
982 |
6.64e-37 |
SMART |
VWA
|
997 |
1175 |
2.7e-37 |
SMART |
VWA
|
1184 |
1370 |
3.45e-1 |
SMART |
Pfam:Collagen
|
1389 |
1450 |
9.3e-10 |
PFAM |
low complexity region
|
1451 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1508 |
N/A |
INTRINSIC |
low complexity region
|
1602 |
1623 |
N/A |
INTRINSIC |
low complexity region
|
1698 |
1724 |
N/A |
INTRINSIC |
VWA
|
1754 |
1937 |
1.73e-17 |
SMART |
VWA
|
1962 |
2145 |
4.4e-19 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 108 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
T |
C |
11: 109,679,547 (GRCm39) |
|
probably benign |
Het |
6430571L13Rik |
T |
A |
9: 107,219,707 (GRCm39) |
D53E |
possibly damaging |
Het |
A2ml1 |
T |
A |
6: 128,527,736 (GRCm39) |
N1018I |
probably damaging |
Het |
Abi3 |
C |
A |
11: 95,727,937 (GRCm39) |
A85S |
probably benign |
Het |
Acsl5 |
A |
T |
19: 55,272,904 (GRCm39) |
M340L |
probably benign |
Het |
Adam29 |
T |
A |
8: 56,324,612 (GRCm39) |
H614L |
probably benign |
Het |
Adgrg6 |
A |
T |
10: 14,312,628 (GRCm39) |
S720T |
probably damaging |
Het |
Adrb2 |
G |
T |
18: 62,312,441 (GRCm39) |
A128E |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,872,291 (GRCm39) |
E510G |
probably benign |
Het |
Angel1 |
A |
G |
12: 86,764,487 (GRCm39) |
|
probably null |
Het |
Aox3 |
T |
G |
1: 58,211,458 (GRCm39) |
I1005S |
possibly damaging |
Het |
Apc |
C |
A |
18: 34,451,507 (GRCm39) |
P2767Q |
probably damaging |
Het |
Apob |
T |
G |
12: 8,066,193 (GRCm39) |
D4387E |
probably benign |
Het |
Apobr |
T |
C |
7: 126,185,827 (GRCm39) |
V446A |
possibly damaging |
Het |
Arhgap28 |
A |
T |
17: 68,203,108 (GRCm39) |
|
probably null |
Het |
Aspm |
G |
T |
1: 139,419,339 (GRCm39) |
K3001N |
probably damaging |
Het |
Asxl3 |
G |
T |
18: 22,655,937 (GRCm39) |
V1316F |
probably benign |
Het |
Atp2a1 |
T |
A |
7: 126,046,162 (GRCm39) |
|
probably null |
Het |
Bach1 |
A |
G |
16: 87,526,359 (GRCm39) |
D607G |
possibly damaging |
Het |
Batf3 |
A |
G |
1: 190,832,935 (GRCm39) |
D27G |
probably damaging |
Het |
Baz1a |
G |
T |
12: 55,022,055 (GRCm39) |
Q76K |
probably damaging |
Het |
Bdnf |
G |
A |
2: 109,553,883 (GRCm39) |
V86M |
probably benign |
Het |
Birc7 |
A |
G |
2: 180,573,098 (GRCm39) |
I172V |
probably benign |
Het |
Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,364,563 (GRCm39) |
E337V |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,612,520 (GRCm39) |
F287L |
possibly damaging |
Het |
Ces1e |
A |
G |
8: 93,950,671 (GRCm39) |
Y37H |
probably benign |
Het |
Clasrp |
A |
T |
7: 19,318,418 (GRCm39) |
|
probably benign |
Het |
Clec2d |
T |
A |
6: 129,160,090 (GRCm39) |
S35T |
probably damaging |
Het |
Cntn4 |
T |
A |
6: 106,639,539 (GRCm39) |
D556E |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,349,422 (GRCm39) |
D245V |
probably benign |
Het |
Col5a1 |
T |
A |
2: 27,818,255 (GRCm39) |
L160* |
probably null |
Het |
Cpsf2 |
T |
A |
12: 101,951,490 (GRCm39) |
H142Q |
probably benign |
Het |
Cr2 |
A |
C |
1: 194,853,419 (GRCm39) |
S20A |
possibly damaging |
Het |
Ct45a |
G |
A |
X: 55,590,399 (GRCm39) |
P134L |
probably benign |
Het |
Cyp2j5 |
A |
T |
4: 96,547,749 (GRCm39) |
H164Q |
probably benign |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Dmbt1 |
G |
A |
7: 130,703,811 (GRCm39) |
V1124M |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,323,838 (GRCm39) |
H1182R |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,368,509 (GRCm39) |
S1709T |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,560,844 (GRCm39) |
V776A |
probably damaging |
Het |
Emc3 |
T |
C |
6: 113,492,992 (GRCm39) |
T220A |
probably benign |
Het |
Entpd1 |
A |
C |
19: 40,715,769 (GRCm39) |
N312T |
probably benign |
Het |
Fam8a1 |
A |
T |
13: 46,824,699 (GRCm39) |
I229F |
probably damaging |
Het |
Fancc |
G |
A |
13: 63,465,205 (GRCm39) |
P501S |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,702,751 (GRCm39) |
R1704G |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,819,302 (GRCm39) |
I5012V |
probably benign |
Het |
Glce |
T |
C |
9: 61,968,282 (GRCm39) |
T290A |
probably benign |
Het |
Gns |
G |
A |
10: 121,219,349 (GRCm39) |
|
probably null |
Het |
Gsdma2 |
A |
G |
11: 98,542,810 (GRCm39) |
N190S |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,415,887 (GRCm39) |
S563T |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,674,470 (GRCm39) |
|
probably null |
Het |
Jup |
A |
T |
11: 100,267,589 (GRCm39) |
M578K |
probably benign |
Het |
Kir3dl1 |
G |
A |
X: 135,434,594 (GRCm39) |
|
probably null |
Het |
Krt75 |
A |
G |
15: 101,482,025 (GRCm39) |
F81S |
probably benign |
Het |
Lrp1 |
G |
T |
10: 127,403,233 (GRCm39) |
D2113E |
probably damaging |
Het |
Maged2 |
T |
A |
X: 149,594,830 (GRCm39) |
N176Y |
probably damaging |
Het |
Mrc1 |
T |
A |
2: 14,333,382 (GRCm39) |
C1354* |
probably null |
Het |
Mup7 |
A |
C |
4: 60,069,742 (GRCm39) |
V74G |
possibly damaging |
Het |
Naca |
A |
G |
10: 127,877,031 (GRCm39) |
|
probably benign |
Het |
Nav3 |
T |
G |
10: 109,659,325 (GRCm39) |
Y764S |
probably damaging |
Het |
Nkpd1 |
A |
T |
7: 19,257,099 (GRCm39) |
T293S |
probably benign |
Het |
Numb |
A |
G |
12: 83,842,614 (GRCm39) |
Y510H |
probably damaging |
Het |
Nynrin |
T |
G |
14: 56,105,492 (GRCm39) |
L834R |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or2ak5 |
G |
T |
11: 58,611,347 (GRCm39) |
H176N |
probably benign |
Het |
Or8g18 |
T |
A |
9: 39,149,162 (GRCm39) |
N186I |
possibly damaging |
Het |
Otog |
T |
C |
7: 45,920,797 (GRCm39) |
V1000A |
possibly damaging |
Het |
Pafah1b3 |
A |
G |
7: 24,996,554 (GRCm39) |
V43A |
possibly damaging |
Het |
Pcnx1 |
A |
G |
12: 82,030,450 (GRCm39) |
Y1775C |
possibly damaging |
Het |
Phka1 |
G |
A |
X: 101,564,437 (GRCm39) |
R1074C |
probably damaging |
Het |
Pi4ka |
T |
A |
16: 17,111,765 (GRCm39) |
Y1570F |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,152,329 (GRCm39) |
K2588E |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,794,549 (GRCm39) |
T2079A |
probably damaging |
Het |
Plekhd1 |
G |
T |
12: 80,764,075 (GRCm39) |
Q212H |
probably damaging |
Het |
Plekhh1 |
C |
T |
12: 79,087,359 (GRCm39) |
R16* |
probably null |
Het |
Polm |
C |
A |
11: 5,786,207 (GRCm39) |
R120L |
probably damaging |
Het |
Ptpn22 |
T |
C |
3: 103,767,721 (GRCm39) |
M1T |
probably null |
Het |
Ptprh |
G |
A |
7: 4,567,271 (GRCm39) |
L534F |
probably benign |
Het |
Rabl6 |
C |
T |
2: 25,482,778 (GRCm39) |
|
probably null |
Het |
Rap2a |
A |
G |
14: 120,716,403 (GRCm39) |
S89G |
probably damaging |
Het |
Rara |
A |
T |
11: 98,862,406 (GRCm39) |
|
probably null |
Het |
Reck |
A |
G |
4: 43,930,295 (GRCm39) |
D623G |
probably benign |
Het |
Relt |
A |
T |
7: 100,498,023 (GRCm39) |
L237Q |
probably damaging |
Het |
Rngtt |
A |
G |
4: 33,329,598 (GRCm39) |
|
probably null |
Het |
Rtn4rl2 |
T |
G |
2: 84,710,763 (GRCm39) |
Y167S |
probably damaging |
Het |
Sec24c |
C |
T |
14: 20,738,505 (GRCm39) |
R353C |
probably damaging |
Het |
Slc35g2 |
T |
C |
9: 100,435,495 (GRCm39) |
S59G |
probably benign |
Het |
Smarcd2 |
A |
T |
11: 106,158,241 (GRCm39) |
M107K |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,781,606 (GRCm39) |
N1227S |
possibly damaging |
Het |
Snrnp200 |
A |
G |
2: 127,063,734 (GRCm39) |
N638D |
possibly damaging |
Het |
Sntb1 |
A |
G |
15: 55,506,179 (GRCm39) |
S465P |
probably benign |
Het |
Sp4 |
A |
G |
12: 118,263,314 (GRCm39) |
L244P |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,887,716 (GRCm39) |
|
probably null |
Het |
Tbc1d17 |
T |
C |
7: 44,492,509 (GRCm39) |
T385A |
probably benign |
Het |
Tbx10 |
C |
A |
19: 4,047,873 (GRCm39) |
D206E |
probably benign |
Het |
Tcea2 |
C |
T |
2: 181,329,431 (GRCm39) |
P275S |
probably damaging |
Het |
Tns3 |
C |
A |
11: 8,443,121 (GRCm39) |
R414L |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,852,235 (GRCm39) |
R610G |
possibly damaging |
Het |
Ugt2b1 |
T |
C |
5: 87,073,720 (GRCm39) |
K213R |
probably null |
Het |
Unc80 |
A |
G |
1: 66,647,601 (GRCm39) |
S1514G |
probably benign |
Het |
Usp7 |
G |
T |
16: 8,511,778 (GRCm39) |
Q867K |
possibly damaging |
Het |
Vim |
T |
C |
2: 13,579,463 (GRCm39) |
V74A |
probably benign |
Het |
Vmn1r234 |
A |
G |
17: 21,450,007 (GRCm39) |
Y307C |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,610,517 (GRCm39) |
Y58* |
probably null |
Het |
Wdr36 |
C |
A |
18: 32,983,584 (GRCm39) |
A445E |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,532,359 (GRCm39) |
W465R |
probably damaging |
Het |
Zscan4d |
T |
A |
7: 10,898,946 (GRCm39) |
R110S |
probably damaging |
Het |
|
Other mutations in Col6a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Col6a6
|
APN |
9 |
105,635,390 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL00768:Col6a6
|
APN |
9 |
105,659,611 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00917:Col6a6
|
APN |
9 |
105,661,453 (GRCm39) |
splice site |
probably benign |
|
IGL01385:Col6a6
|
APN |
9 |
105,660,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01411:Col6a6
|
APN |
9 |
105,663,157 (GRCm39) |
nonsense |
probably null |
|
IGL01508:Col6a6
|
APN |
9 |
105,604,365 (GRCm39) |
splice site |
probably benign |
|
IGL01668:Col6a6
|
APN |
9 |
105,586,470 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01733:Col6a6
|
APN |
9 |
105,586,454 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01932:Col6a6
|
APN |
9 |
105,566,825 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01934:Col6a6
|
APN |
9 |
105,575,858 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01944:Col6a6
|
APN |
9 |
105,661,108 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01980:Col6a6
|
APN |
9 |
105,658,184 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02114:Col6a6
|
APN |
9 |
105,644,398 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02129:Col6a6
|
APN |
9 |
105,613,539 (GRCm39) |
splice site |
probably benign |
|
IGL02201:Col6a6
|
APN |
9 |
105,658,194 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02335:Col6a6
|
APN |
9 |
105,661,300 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02541:Col6a6
|
APN |
9 |
105,609,415 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02574:Col6a6
|
APN |
9 |
105,659,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02649:Col6a6
|
APN |
9 |
105,604,369 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02852:Col6a6
|
APN |
9 |
105,661,272 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03278:Col6a6
|
APN |
9 |
105,586,651 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03327:Col6a6
|
APN |
9 |
105,644,433 (GRCm39) |
missense |
possibly damaging |
0.90 |
PIT4519001:Col6a6
|
UTSW |
9 |
105,609,462 (GRCm39) |
missense |
probably benign |
0.23 |
R0042:Col6a6
|
UTSW |
9 |
105,657,896 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0046:Col6a6
|
UTSW |
9 |
105,626,047 (GRCm39) |
splice site |
probably benign |
|
R0066:Col6a6
|
UTSW |
9 |
105,579,412 (GRCm39) |
missense |
probably damaging |
0.99 |
R0066:Col6a6
|
UTSW |
9 |
105,579,412 (GRCm39) |
missense |
probably damaging |
0.99 |
R0140:Col6a6
|
UTSW |
9 |
105,579,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R0278:Col6a6
|
UTSW |
9 |
105,644,487 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0281:Col6a6
|
UTSW |
9 |
105,661,315 (GRCm39) |
missense |
probably benign |
0.13 |
R0382:Col6a6
|
UTSW |
9 |
105,632,754 (GRCm39) |
missense |
probably damaging |
0.98 |
R0389:Col6a6
|
UTSW |
9 |
105,661,403 (GRCm39) |
missense |
probably benign |
0.02 |
R0421:Col6a6
|
UTSW |
9 |
105,661,405 (GRCm39) |
missense |
probably benign |
0.02 |
R0502:Col6a6
|
UTSW |
9 |
105,644,550 (GRCm39) |
missense |
probably benign |
0.04 |
R0503:Col6a6
|
UTSW |
9 |
105,644,550 (GRCm39) |
missense |
probably benign |
0.04 |
R0600:Col6a6
|
UTSW |
9 |
105,638,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Col6a6
|
UTSW |
9 |
105,604,364 (GRCm39) |
splice site |
probably benign |
|
R0690:Col6a6
|
UTSW |
9 |
105,586,685 (GRCm39) |
missense |
probably benign |
0.01 |
R1155:Col6a6
|
UTSW |
9 |
105,659,289 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1245:Col6a6
|
UTSW |
9 |
105,626,109 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1253:Col6a6
|
UTSW |
9 |
105,651,502 (GRCm39) |
missense |
probably null |
0.98 |
R1263:Col6a6
|
UTSW |
9 |
105,586,688 (GRCm39) |
missense |
probably benign |
0.01 |
R1296:Col6a6
|
UTSW |
9 |
105,658,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R1556:Col6a6
|
UTSW |
9 |
105,586,672 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1600:Col6a6
|
UTSW |
9 |
105,655,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R1612:Col6a6
|
UTSW |
9 |
105,654,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R1613:Col6a6
|
UTSW |
9 |
105,609,410 (GRCm39) |
critical splice donor site |
probably null |
|
R1830:Col6a6
|
UTSW |
9 |
105,579,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R1858:Col6a6
|
UTSW |
9 |
105,658,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1897:Col6a6
|
UTSW |
9 |
105,662,943 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1944:Col6a6
|
UTSW |
9 |
105,586,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R2366:Col6a6
|
UTSW |
9 |
105,632,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R2484:Col6a6
|
UTSW |
9 |
105,658,003 (GRCm39) |
missense |
probably damaging |
0.98 |
R3079:Col6a6
|
UTSW |
9 |
105,631,422 (GRCm39) |
missense |
probably benign |
0.01 |
R3176:Col6a6
|
UTSW |
9 |
105,663,429 (GRCm39) |
missense |
probably benign |
0.01 |
R3276:Col6a6
|
UTSW |
9 |
105,663,429 (GRCm39) |
missense |
probably benign |
0.01 |
R3429:Col6a6
|
UTSW |
9 |
105,655,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R3716:Col6a6
|
UTSW |
9 |
105,659,373 (GRCm39) |
missense |
probably damaging |
0.98 |
R3809:Col6a6
|
UTSW |
9 |
105,657,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R3978:Col6a6
|
UTSW |
9 |
105,576,078 (GRCm39) |
missense |
probably damaging |
0.98 |
R4087:Col6a6
|
UTSW |
9 |
105,661,155 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4382:Col6a6
|
UTSW |
9 |
105,660,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R4516:Col6a6
|
UTSW |
9 |
105,576,148 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4666:Col6a6
|
UTSW |
9 |
105,644,541 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4905:Col6a6
|
UTSW |
9 |
105,644,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R4923:Col6a6
|
UTSW |
9 |
105,666,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4951:Col6a6
|
UTSW |
9 |
105,644,397 (GRCm39) |
critical splice donor site |
probably null |
|
R5002:Col6a6
|
UTSW |
9 |
105,663,292 (GRCm39) |
missense |
probably benign |
0.00 |
R5111:Col6a6
|
UTSW |
9 |
105,586,673 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5205:Col6a6
|
UTSW |
9 |
105,659,232 (GRCm39) |
missense |
probably damaging |
0.99 |
R5399:Col6a6
|
UTSW |
9 |
105,586,306 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5475:Col6a6
|
UTSW |
9 |
105,651,537 (GRCm39) |
missense |
probably null |
0.79 |
R5491:Col6a6
|
UTSW |
9 |
105,615,435 (GRCm39) |
missense |
probably damaging |
0.98 |
R5758:Col6a6
|
UTSW |
9 |
105,638,717 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5934:Col6a6
|
UTSW |
9 |
105,644,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R6059:Col6a6
|
UTSW |
9 |
105,661,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R6284:Col6a6
|
UTSW |
9 |
105,604,426 (GRCm39) |
splice site |
probably null |
|
R6425:Col6a6
|
UTSW |
9 |
105,576,064 (GRCm39) |
missense |
probably benign |
0.21 |
R6464:Col6a6
|
UTSW |
9 |
105,666,152 (GRCm39) |
start codon destroyed |
probably null |
0.60 |
R6469:Col6a6
|
UTSW |
9 |
105,575,890 (GRCm39) |
missense |
probably damaging |
0.97 |
R6520:Col6a6
|
UTSW |
9 |
105,663,024 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6552:Col6a6
|
UTSW |
9 |
105,576,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R6750:Col6a6
|
UTSW |
9 |
105,660,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R6813:Col6a6
|
UTSW |
9 |
105,661,140 (GRCm39) |
missense |
probably benign |
0.32 |
R7032:Col6a6
|
UTSW |
9 |
105,644,707 (GRCm39) |
missense |
probably damaging |
0.96 |
R7260:Col6a6
|
UTSW |
9 |
105,661,168 (GRCm39) |
missense |
probably benign |
0.00 |
R7472:Col6a6
|
UTSW |
9 |
105,659,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R7541:Col6a6
|
UTSW |
9 |
105,644,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R7640:Col6a6
|
UTSW |
9 |
105,662,943 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7645:Col6a6
|
UTSW |
9 |
105,644,397 (GRCm39) |
critical splice donor site |
probably null |
|
R7716:Col6a6
|
UTSW |
9 |
105,661,102 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7866:Col6a6
|
UTSW |
9 |
105,566,760 (GRCm39) |
missense |
probably damaging |
0.96 |
R7938:Col6a6
|
UTSW |
9 |
105,657,883 (GRCm39) |
nonsense |
probably null |
|
R8016:Col6a6
|
UTSW |
9 |
105,644,727 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8043:Col6a6
|
UTSW |
9 |
105,576,219 (GRCm39) |
missense |
probably damaging |
0.98 |
R8073:Col6a6
|
UTSW |
9 |
105,659,146 (GRCm39) |
missense |
probably benign |
0.01 |
R8082:Col6a6
|
UTSW |
9 |
105,661,129 (GRCm39) |
nonsense |
probably null |
|
R8243:Col6a6
|
UTSW |
9 |
105,576,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Col6a6
|
UTSW |
9 |
105,661,272 (GRCm39) |
missense |
probably damaging |
0.96 |
R8324:Col6a6
|
UTSW |
9 |
105,632,853 (GRCm39) |
missense |
probably benign |
0.25 |
R8384:Col6a6
|
UTSW |
9 |
105,632,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R8400:Col6a6
|
UTSW |
9 |
105,651,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R8523:Col6a6
|
UTSW |
9 |
105,651,987 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8842:Col6a6
|
UTSW |
9 |
105,655,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R8862:Col6a6
|
UTSW |
9 |
105,663,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Col6a6
|
UTSW |
9 |
105,644,528 (GRCm39) |
missense |
probably damaging |
0.99 |
R9021:Col6a6
|
UTSW |
9 |
105,586,745 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9088:Col6a6
|
UTSW |
9 |
105,661,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R9178:Col6a6
|
UTSW |
9 |
105,659,169 (GRCm39) |
missense |
probably benign |
0.30 |
R9225:Col6a6
|
UTSW |
9 |
105,659,437 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9340:Col6a6
|
UTSW |
9 |
105,651,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R9342:Col6a6
|
UTSW |
9 |
105,663,172 (GRCm39) |
missense |
probably benign |
0.00 |
R9360:Col6a6
|
UTSW |
9 |
105,644,686 (GRCm39) |
missense |
probably benign |
0.00 |
R9368:Col6a6
|
UTSW |
9 |
105,663,300 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9398:Col6a6
|
UTSW |
9 |
105,651,825 (GRCm39) |
missense |
probably benign |
0.40 |
R9450:Col6a6
|
UTSW |
9 |
105,661,373 (GRCm39) |
missense |
probably benign |
|
R9454:Col6a6
|
UTSW |
9 |
105,661,059 (GRCm39) |
missense |
probably damaging |
0.99 |
R9458:Col6a6
|
UTSW |
9 |
105,586,361 (GRCm39) |
missense |
probably benign |
0.01 |
R9563:Col6a6
|
UTSW |
9 |
105,572,952 (GRCm39) |
missense |
probably benign |
0.02 |
R9568:Col6a6
|
UTSW |
9 |
105,657,926 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9613:Col6a6
|
UTSW |
9 |
105,616,401 (GRCm39) |
missense |
probably benign |
0.07 |
R9664:Col6a6
|
UTSW |
9 |
105,658,254 (GRCm39) |
missense |
probably benign |
0.11 |
R9747:Col6a6
|
UTSW |
9 |
105,661,239 (GRCm39) |
missense |
probably benign |
0.29 |
R9760:Col6a6
|
UTSW |
9 |
105,659,253 (GRCm39) |
missense |
probably damaging |
0.99 |
X0022:Col6a6
|
UTSW |
9 |
105,576,531 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Col6a6
|
UTSW |
9 |
105,658,151 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Col6a6
|
UTSW |
9 |
105,666,094 (GRCm39) |
missense |
probably null |
0.24 |
Z1177:Col6a6
|
UTSW |
9 |
105,605,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGGAAAACTTGTTCCCAGGTGTG -3'
(R):5'- TCAGTGCTCCAGAATGACCATCCC -3'
Sequencing Primer
(F):5'- cccccccccgAGTAATTAG -3'
(R):5'- CATGGGTGGAAATACTTACACCG -3'
|
Posted On |
2013-07-11 |