Incidental Mutation 'R9747:Col6a6'
| ID |
732229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a6
|
| Ensembl Gene |
ENSMUSG00000043719 |
| Gene Name |
collagen, type VI, alpha 6 |
| Synonyms |
E330026B02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R9747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
105566616-105705413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105661239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 290
(E290G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060896]
[ENSMUST00000098441]
[ENSMUST00000166431]
|
| AlphaFold |
Q8C6K9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060896
AA Change: E290G
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060840
Gene: ENSMUSG00000043719
AA Change: E290G
| 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 |
possibly damaging
Transcript: ENSMUST00000098441
AA Change: E290G
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: E290G
| 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: E290G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: E290G
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,668,711 (GRCm39) |
S701P |
probably damaging |
Het |
| Acsl1 |
A |
G |
8: 46,961,397 (GRCm39) |
K114R |
probably benign |
Het |
| Adam11 |
A |
G |
11: 102,663,495 (GRCm39) |
N275D |
probably damaging |
Het |
| Adamts19 |
G |
A |
18: 59,023,487 (GRCm39) |
R294H |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,180,943 (GRCm39) |
C1666Y |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,987,541 (GRCm39) |
I2942L |
possibly damaging |
Het |
| Ank1 |
A |
G |
8: 23,576,993 (GRCm39) |
H195R |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,752,667 (GRCm39) |
T350A |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,008,946 (GRCm39) |
N243K |
possibly damaging |
Het |
| Atp10b |
C |
T |
11: 43,088,339 (GRCm39) |
T315I |
probably benign |
Het |
| Avl9 |
C |
T |
6: 56,730,825 (GRCm39) |
S583F |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,207,892 (GRCm39) |
K700E |
possibly damaging |
Het |
| Brd10 |
C |
A |
19: 29,731,911 (GRCm39) |
C367F |
possibly damaging |
Het |
| Cacna1i |
G |
A |
15: 80,246,318 (GRCm39) |
E571K |
probably benign |
Het |
| Casp1 |
T |
A |
9: 5,299,322 (GRCm39) |
V17E |
probably damaging |
Het |
| Ccdc115 |
A |
T |
1: 34,478,001 (GRCm39) |
D76E |
probably benign |
Het |
| Ccdc150 |
A |
T |
1: 54,299,107 (GRCm39) |
R28* |
probably null |
Het |
| Cd36 |
T |
G |
5: 18,019,732 (GRCm39) |
E123A |
probably benign |
Het |
| Cd5l |
A |
C |
3: 87,275,104 (GRCm39) |
Q214H |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,191,907 (GRCm39) |
H2370L |
unknown |
Het |
| Cftr |
C |
A |
6: 18,285,636 (GRCm39) |
T1148K |
possibly damaging |
Het |
| Col15a1 |
T |
A |
4: 47,312,208 (GRCm39) |
L1341Q |
probably damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,938,977 (GRCm39) |
E404G |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,412,682 (GRCm39) |
D1239E |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,177,828 (GRCm39) |
T430I |
possibly damaging |
Het |
| Dmgdh |
C |
T |
13: 93,825,154 (GRCm39) |
P159L |
probably damaging |
Het |
| Dmrt3 |
G |
A |
19: 25,600,003 (GRCm39) |
D283N |
probably damaging |
Het |
| Dnttip1 |
A |
G |
2: 164,607,100 (GRCm39) |
D247G |
probably damaging |
Het |
| Efhc1 |
A |
T |
1: 21,048,928 (GRCm39) |
D447V |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,585,138 (GRCm39) |
K248E |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,163,267 (GRCm39) |
L34P |
probably damaging |
Het |
| Fer |
T |
C |
17: 64,214,376 (GRCm39) |
M103T |
probably benign |
Het |
| Gabrg1 |
T |
C |
5: 70,938,029 (GRCm39) |
M197V |
probably damaging |
Het |
| Galnt5 |
C |
A |
2: 57,889,477 (GRCm39) |
T359K |
probably benign |
Het |
| Gm8108 |
G |
T |
14: 4,110,527 (GRCm38) |
|
probably benign |
Het |
| Gna12 |
T |
C |
5: 140,746,602 (GRCm39) |
N281S |
probably damaging |
Het |
| Golgb1 |
C |
T |
16: 36,713,769 (GRCm39) |
T250I |
probably damaging |
Het |
| Gpd1 |
A |
G |
15: 99,618,004 (GRCm39) |
K130E |
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,395,181 (GRCm39) |
M428K |
possibly damaging |
Het |
| Hey2 |
A |
C |
10: 30,709,824 (GRCm39) |
S310A |
probably benign |
Het |
| Ifi47 |
T |
C |
11: 48,987,367 (GRCm39) |
V378A |
possibly damaging |
Het |
| Ighv8-12 |
A |
G |
12: 115,611,640 (GRCm39) |
S95P |
probably damaging |
Het |
| Igkv1-131 |
G |
T |
6: 67,743,215 (GRCm39) |
T56K |
probably damaging |
Het |
| Igsf23 |
T |
C |
7: 19,675,839 (GRCm39) |
N127S |
probably benign |
Het |
| Iqgap2 |
T |
A |
13: 95,821,505 (GRCm39) |
N546I |
probably damaging |
Het |
| Irf9 |
A |
G |
14: 55,844,045 (GRCm39) |
H270R |
probably benign |
Het |
| Itga6 |
C |
T |
2: 71,656,871 (GRCm39) |
S375L |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,016,087 (GRCm39) |
E857G |
probably benign |
Het |
| Kbtbd8 |
A |
G |
6: 95,098,838 (GRCm39) |
T116A |
possibly damaging |
Het |
| Kif5a |
T |
C |
10: 127,074,622 (GRCm39) |
I570V |
probably benign |
Het |
| Klhdc10 |
T |
C |
6: 30,439,859 (GRCm39) |
M154T |
possibly damaging |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,776 (GRCm39) |
Y64H |
unknown |
Het |
| Lce1l |
C |
T |
3: 92,757,828 (GRCm39) |
C10Y |
unknown |
Het |
| Lrrc72 |
A |
G |
12: 36,264,371 (GRCm39) |
Y29H |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,915,515 (GRCm39) |
N181K |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,136,672 (GRCm39) |
|
probably null |
Het |
| Mpped1 |
A |
G |
15: 83,684,305 (GRCm39) |
Y109C |
probably damaging |
Het |
| Mrgpra2a |
C |
T |
7: 47,076,458 (GRCm39) |
V267I |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,754,698 (GRCm38) |
V1524E |
probably benign |
Het |
| Nabp2 |
T |
A |
10: 128,237,610 (GRCm39) |
R208* |
probably null |
Het |
| Ndst3 |
A |
G |
3: 123,340,461 (GRCm39) |
F786L |
possibly damaging |
Het |
| Nos2 |
C |
T |
11: 78,822,472 (GRCm39) |
P123S |
probably damaging |
Het |
| Nrcam |
T |
A |
12: 44,645,192 (GRCm39) |
V1198E |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,880,962 (GRCm39) |
Q592R |
possibly damaging |
Het |
| Or10ak9 |
C |
T |
4: 118,726,217 (GRCm39) |
P80S |
probably damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,898 (GRCm39) |
T36S |
probably benign |
Het |
| Pcdhgc4 |
A |
G |
18: 37,951,026 (GRCm39) |
Y814C |
probably benign |
Het |
| Pcm1 |
A |
C |
8: 41,757,135 (GRCm39) |
H1349P |
probably benign |
Het |
| Pcsk6 |
T |
A |
7: 65,633,470 (GRCm39) |
D567E |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,337,310 (GRCm39) |
V214A |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,611,367 (GRCm39) |
N270I |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,877,047 (GRCm39) |
V804E |
probably benign |
Het |
| Rbl1 |
G |
T |
2: 157,033,966 (GRCm39) |
L371I |
probably damaging |
Het |
| Rcl1 |
T |
A |
19: 29,105,482 (GRCm39) |
I223N |
probably damaging |
Het |
| Saa4 |
C |
T |
7: 46,381,077 (GRCm39) |
G15E |
probably damaging |
Het |
| Selenbp1 |
T |
C |
3: 94,844,648 (GRCm39) |
S102P |
probably damaging |
Het |
| Setx |
G |
T |
2: 29,064,377 (GRCm39) |
E232* |
probably null |
Het |
| Sik2 |
A |
G |
9: 50,810,058 (GRCm39) |
F502L |
possibly damaging |
Het |
| Slamf9 |
A |
T |
1: 172,305,782 (GRCm39) |
I272F |
unknown |
Het |
| Slc33a1 |
A |
T |
3: 63,861,424 (GRCm39) |
D259E |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,621,138 (GRCm39) |
I393V |
probably benign |
Het |
| Slk |
A |
G |
19: 47,608,346 (GRCm39) |
D433G |
possibly damaging |
Het |
| Spata13 |
C |
T |
14: 60,929,240 (GRCm39) |
P266L |
probably benign |
Het |
| Speer4c1 |
T |
A |
5: 15,916,652 (GRCm39) |
Q105L |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,761,771 (GRCm39) |
I126F |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,628,579 (GRCm39) |
S818P |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,981,104 (GRCm39) |
C232* |
probably null |
Het |
| Tctn3 |
T |
G |
19: 40,599,743 (GRCm39) |
N153T |
possibly damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,847,101 (GRCm39) |
V914E |
probably benign |
Het |
| Tmem200b |
A |
G |
4: 131,649,359 (GRCm39) |
H93R |
possibly damaging |
Het |
| Tmem33 |
T |
G |
5: 67,425,922 (GRCm39) |
N155K |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,884,400 (GRCm39) |
D94G |
probably benign |
Het |
| Tnpo2 |
A |
G |
8: 85,781,988 (GRCm39) |
D869G |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,527,029 (GRCm39) |
R260* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,594,293 (GRCm39) |
V20552I |
possibly damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,129 (GRCm39) |
D381E |
probably benign |
Het |
| Vmn2r92 |
T |
C |
17: 18,405,201 (GRCm39) |
F782L |
possibly damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,244,821 (GRCm39) |
D765N |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,271 (GRCm39) |
H115Q |
possibly damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,739,244 (GRCm39) |
N514I |
probably benign |
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 |
|
R0626:Col6a6
|
UTSW |
9 |
105,654,943 (GRCm39) |
missense |
probably benign |
0.45 |
|
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 |
|
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'- GGTAAAGATGGTCACTCCCTCC -3'
(R):5'- GTTCCTGTTGGATATGGCCATC -3'
Sequencing Primer
(F):5'- GTTGACAGCTGCCTTGGTCAC -3'
(R):5'- TTGGATATGGCCATCAACGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation