Incidental Mutation 'R0066:Col6a6'
| ID |
41092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a6
|
| Ensembl Gene |
ENSMUSG00000043719 |
| Gene Name |
collagen, type VI, alpha 6 |
| Synonyms |
E330026B02Rik |
| MMRRC Submission |
038357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R0066 (G1)
|
| Quality Score |
83 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105687809-105828160 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105702213 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1938
(C1938S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098441]
[ENSMUST00000166431]
|
| AlphaFold |
Q8C6K9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098441
AA Change: C1938S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: C1938S
| 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 |
possibly damaging
Transcript: ENSMUST00000166431
AA Change: C1938S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: C1938S
| 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 |
|
| Meta Mutation Damage Score |
0.4055 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| Validation Efficiency |
100% (107/107) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810064F22Rik |
A |
G |
9: 22,207,881 (GRCm38) |
|
noncoding transcript |
Het |
| 5530400C23Rik |
A |
T |
6: 133,292,324 (GRCm38) |
|
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,903,465 (GRCm38) |
|
probably benign |
Het |
| Arap3 |
A |
T |
18: 37,996,707 (GRCm38) |
S134T |
probably benign |
Het |
| Arsa |
T |
A |
15: 89,474,336 (GRCm38) |
M288L |
possibly damaging |
Het |
| Atg2b |
A |
T |
12: 105,648,449 (GRCm38) |
D1074E |
probably benign |
Het |
| Baiap2l1 |
A |
T |
5: 144,284,562 (GRCm38) |
I174N |
probably damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,266,841 (GRCm38) |
N421Y |
possibly damaging |
Het |
| Btn2a2 |
T |
A |
13: 23,478,485 (GRCm38) |
I432L |
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,356,691 (GRCm38) |
I778V |
probably benign |
Het |
| Cd200r2 |
G |
A |
16: 44,909,674 (GRCm38) |
V194I |
possibly damaging |
Het |
| Cep350 |
A |
C |
1: 155,911,218 (GRCm38) |
L1421R |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,545,144 (GRCm38) |
A1633T |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,888,134 (GRCm38) |
D1051V |
probably damaging |
Het |
| Cstf1 |
T |
A |
2: 172,373,056 (GRCm38) |
N32K |
probably benign |
Het |
| Ctrb1 |
G |
A |
8: 111,686,637 (GRCm38) |
R248* |
probably null |
Het |
| Cyp2d11 |
T |
A |
15: 82,391,757 (GRCm38) |
M208L |
probably benign |
Het |
| Dbt |
A |
G |
3: 116,543,829 (GRCm38) |
Q334R |
probably benign |
Het |
| Dcaf12 |
A |
G |
4: 41,298,338 (GRCm38) |
V270A |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,319,165 (GRCm38) |
N361I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,763,076 (GRCm38) |
D1315V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,126,886 (GRCm38) |
F1080S |
probably benign |
Het |
| Dnm3 |
A |
G |
1: 162,407,361 (GRCm38) |
V70A |
probably damaging |
Het |
| Dpy19l1 |
A |
C |
9: 24,414,409 (GRCm38) |
M700R |
possibly damaging |
Het |
| Dpy19l2 |
G |
A |
9: 24,646,383 (GRCm38) |
|
probably benign |
Het |
| Dst |
C |
A |
1: 34,189,553 (GRCm38) |
H2254N |
possibly damaging |
Het |
| Epm2aip1 |
A |
G |
9: 111,272,463 (GRCm38) |
N168S |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 101,278,424 (GRCm38) |
Y691C |
possibly damaging |
Het |
| Fndc8 |
A |
T |
11: 82,897,572 (GRCm38) |
D76V |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,473,152 (GRCm38) |
L48P |
probably damaging |
Het |
| Gimap6 |
T |
A |
6: 48,702,470 (GRCm38) |
I211F |
probably damaging |
Het |
| Gm15130 |
A |
G |
2: 111,138,939 (GRCm38) |
|
probably benign |
Het |
| Gm43302 |
T |
A |
5: 105,290,900 (GRCm38) |
I41F |
probably damaging |
Het |
| Gm5698 |
C |
T |
1: 30,977,533 (GRCm38) |
V146I |
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 35,287,227 (GRCm38) |
S768L |
probably damaging |
Het |
| Grb14 |
T |
G |
2: 64,938,492 (GRCm38) |
|
probably null |
Het |
| Hnrnpd |
T |
C |
5: 99,964,701 (GRCm38) |
E222G |
probably damaging |
Het |
| Il4ra |
C |
T |
7: 125,576,231 (GRCm38) |
P537L |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 34,203,957 (GRCm38) |
D610G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,757,800 (GRCm38) |
H26R |
probably benign |
Het |
| Kctd2 |
T |
G |
11: 115,429,517 (GRCm38) |
|
probably benign |
Het |
| Khdrbs3 |
T |
A |
15: 68,995,037 (GRCm38) |
|
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,432,150 (GRCm38) |
Q3066* |
probably null |
Het |
| Mfn2 |
G |
A |
4: 147,885,445 (GRCm38) |
|
probably benign |
Het |
| Mmab |
T |
C |
5: 114,436,465 (GRCm38) |
|
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,261,200 (GRCm38) |
S310P |
probably benign |
Het |
| Mrps21 |
T |
C |
3: 95,862,885 (GRCm38) |
Y44C |
probably null |
Het |
| Myh10 |
T |
A |
11: 68,699,491 (GRCm38) |
F121Y |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,601,703 (GRCm38) |
D840G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,306,530 (GRCm38) |
D553V |
probably damaging |
Het |
| Nol6 |
G |
T |
4: 41,119,572 (GRCm38) |
|
probably benign |
Het |
| Npr2 |
G |
T |
4: 43,632,329 (GRCm38) |
V49L |
probably benign |
Het |
| Ntsr2 |
T |
C |
12: 16,654,119 (GRCm38) |
I207T |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 72,711,856 (GRCm38) |
S1552T |
probably benign |
Het |
| Oas3 |
T |
A |
5: 120,758,875 (GRCm38) |
I894F |
probably damaging |
Het |
| Olfr169 |
T |
A |
16: 19,566,049 (GRCm38) |
Y278F |
probably damaging |
Het |
| Olfr456 |
A |
T |
6: 42,486,935 (GRCm38) |
M86K |
probably benign |
Het |
| Olfr736 |
T |
A |
14: 50,393,202 (GRCm38) |
F149I |
probably benign |
Het |
| Olfr983 |
T |
C |
9: 40,092,687 (GRCm38) |
N93S |
possibly damaging |
Het |
| Oprd1 |
A |
G |
4: 132,113,988 (GRCm38) |
F220L |
probably benign |
Het |
| Pkd1l3 |
G |
T |
8: 109,620,471 (GRCm38) |
G159C |
unknown |
Het |
| Plcb4 |
T |
C |
2: 135,961,769 (GRCm38) |
S521P |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,713,475 (GRCm38) |
I993F |
probably damaging |
Het |
| Plcxd1 |
T |
A |
5: 110,101,502 (GRCm38) |
V65E |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 116,157,508 (GRCm38) |
S640G |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 117,276,602 (GRCm38) |
N993T |
probably benign |
Het |
| Rabepk |
T |
C |
2: 34,795,306 (GRCm38) |
D26G |
possibly damaging |
Het |
| Reck |
A |
G |
4: 43,930,936 (GRCm38) |
N646D |
probably damaging |
Het |
| Rfx2 |
A |
T |
17: 56,786,736 (GRCm38) |
|
probably benign |
Het |
| Ripk2 |
G |
A |
4: 16,123,868 (GRCm38) |
Q436* |
probably null |
Het |
| Ryr1 |
C |
T |
7: 29,005,567 (GRCm38) |
|
probably benign |
Het |
| Sema6b |
A |
G |
17: 56,128,271 (GRCm38) |
V324A |
possibly damaging |
Het |
| Sik2 |
C |
A |
9: 50,998,533 (GRCm38) |
M73I |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,599,269 (GRCm38) |
K321E |
probably damaging |
Het |
| Slc7a4 |
C |
A |
16: 17,574,011 (GRCm38) |
V520F |
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,749,932 (GRCm38) |
L781H |
probably damaging |
Het |
| Spink14 |
T |
C |
18: 44,028,763 (GRCm38) |
V2A |
probably benign |
Het |
| Sptan1 |
C |
A |
2: 30,003,667 (GRCm38) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 31,157,070 (GRCm38) |
|
probably benign |
Het |
| Tbc1d17 |
C |
T |
7: 44,844,071 (GRCm38) |
|
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,503,764 (GRCm38) |
L49* |
probably null |
Het |
| Tmco6 |
A |
G |
18: 36,742,107 (GRCm38) |
T477A |
probably benign |
Het |
| Tmem208 |
C |
T |
8: 105,328,225 (GRCm38) |
A53V |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 43,981,748 (GRCm38) |
T837A |
possibly damaging |
Het |
| Tulp4 |
A |
T |
17: 6,201,733 (GRCm38) |
N60I |
probably damaging |
Het |
| Ubqlnl |
A |
T |
7: 104,148,938 (GRCm38) |
W451R |
probably damaging |
Het |
| Usp53 |
G |
T |
3: 122,953,307 (GRCm38) |
C363* |
probably null |
Het |
| Usp7 |
A |
T |
16: 8,691,418 (GRCm38) |
H1017Q |
probably benign |
Het |
| Utp4 |
A |
G |
8: 106,922,898 (GRCm38) |
T660A |
possibly damaging |
Het |
| Vmn1r194 |
A |
T |
13: 22,244,471 (GRCm38) |
Y86F |
probably benign |
Het |
| Vmn1r195 |
A |
T |
13: 22,279,239 (GRCm38) |
H293L |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 20,889,736 (GRCm38) |
R306G |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,927,090 (GRCm38) |
|
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,800,756 (GRCm38) |
V70A |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,425,901 (GRCm38) |
D189G |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,477,523 (GRCm38) |
E515G |
possibly damaging |
Het |
| Wdr18 |
C |
A |
10: 79,961,103 (GRCm38) |
Y104* |
probably null |
Het |
| Wnk4 |
A |
T |
11: 101,265,435 (GRCm38) |
D43V |
probably damaging |
Het |
| Xab2 |
A |
T |
8: 3,613,880 (GRCm38) |
N346K |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,512,140 (GRCm38) |
V1575A |
possibly damaging |
Het |
| Zdhhc12 |
C |
T |
2: 30,092,535 (GRCm38) |
R50H |
probably damaging |
Het |
| Zdhhc8 |
A |
G |
16: 18,225,200 (GRCm38) |
S379P |
probably benign |
Het |
| Zfp458 |
G |
A |
13: 67,259,609 (GRCm38) |
Q58* |
probably null |
Het |
| Zfp747 |
A |
T |
7: 127,374,600 (GRCm38) |
S133T |
probably benign |
Het |
|
| Other mutations in Col6a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Col6a6
|
APN |
9 |
105,758,191 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL00768:Col6a6
|
APN |
9 |
105,782,412 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL00917:Col6a6
|
APN |
9 |
105,784,254 (GRCm38) |
splice site |
probably benign |
|
|
IGL01385:Col6a6
|
APN |
9 |
105,783,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01411:Col6a6
|
APN |
9 |
105,785,958 (GRCm38) |
nonsense |
probably null |
|
|
IGL01508:Col6a6
|
APN |
9 |
105,727,166 (GRCm38) |
splice site |
probably benign |
|
|
IGL01668:Col6a6
|
APN |
9 |
105,709,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01733:Col6a6
|
APN |
9 |
105,709,255 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL01932:Col6a6
|
APN |
9 |
105,689,626 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01934:Col6a6
|
APN |
9 |
105,698,659 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01944:Col6a6
|
APN |
9 |
105,783,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01980:Col6a6
|
APN |
9 |
105,780,985 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02114:Col6a6
|
APN |
9 |
105,767,199 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02129:Col6a6
|
APN |
9 |
105,736,340 (GRCm38) |
splice site |
probably benign |
|
|
IGL02201:Col6a6
|
APN |
9 |
105,780,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02335:Col6a6
|
APN |
9 |
105,784,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02541:Col6a6
|
APN |
9 |
105,732,216 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02574:Col6a6
|
APN |
9 |
105,782,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02649:Col6a6
|
APN |
9 |
105,727,170 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02852:Col6a6
|
APN |
9 |
105,784,073 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03278:Col6a6
|
APN |
9 |
105,709,452 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03327:Col6a6
|
APN |
9 |
105,767,234 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
PIT4519001:Col6a6
|
UTSW |
9 |
105,732,263 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0042:Col6a6
|
UTSW |
9 |
105,780,697 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0046:Col6a6
|
UTSW |
9 |
105,748,848 (GRCm38) |
splice site |
probably benign |
|
|
R0066:Col6a6
|
UTSW |
9 |
105,702,213 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0140:Col6a6
|
UTSW |
9 |
105,702,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0278:Col6a6
|
UTSW |
9 |
105,767,288 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0281:Col6a6
|
UTSW |
9 |
105,784,116 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0382:Col6a6
|
UTSW |
9 |
105,755,555 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0389:Col6a6
|
UTSW |
9 |
105,784,204 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0421:Col6a6
|
UTSW |
9 |
105,784,206 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0502:Col6a6
|
UTSW |
9 |
105,767,351 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0503:Col6a6
|
UTSW |
9 |
105,767,351 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0600:Col6a6
|
UTSW |
9 |
105,761,440 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0626:Col6a6
|
UTSW |
9 |
105,777,744 (GRCm38) |
missense |
probably benign |
0.45 |
|
R0629:Col6a6
|
UTSW |
9 |
105,727,165 (GRCm38) |
splice site |
probably benign |
|
|
R0690:Col6a6
|
UTSW |
9 |
105,709,486 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1155:Col6a6
|
UTSW |
9 |
105,782,090 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1245:Col6a6
|
UTSW |
9 |
105,748,910 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1253:Col6a6
|
UTSW |
9 |
105,774,303 (GRCm38) |
missense |
probably null |
0.98 |
|
R1263:Col6a6
|
UTSW |
9 |
105,709,489 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1296:Col6a6
|
UTSW |
9 |
105,781,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1556:Col6a6
|
UTSW |
9 |
105,709,473 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1600:Col6a6
|
UTSW |
9 |
105,778,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1612:Col6a6
|
UTSW |
9 |
105,777,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1613:Col6a6
|
UTSW |
9 |
105,732,211 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1830:Col6a6
|
UTSW |
9 |
105,702,270 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1858:Col6a6
|
UTSW |
9 |
105,781,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1897:Col6a6
|
UTSW |
9 |
105,785,744 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1944:Col6a6
|
UTSW |
9 |
105,709,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2366:Col6a6
|
UTSW |
9 |
105,755,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2484:Col6a6
|
UTSW |
9 |
105,780,804 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3079:Col6a6
|
UTSW |
9 |
105,754,223 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3176:Col6a6
|
UTSW |
9 |
105,786,230 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3276:Col6a6
|
UTSW |
9 |
105,786,230 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3429:Col6a6
|
UTSW |
9 |
105,777,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3716:Col6a6
|
UTSW |
9 |
105,782,174 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3809:Col6a6
|
UTSW |
9 |
105,780,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3978:Col6a6
|
UTSW |
9 |
105,698,879 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4087:Col6a6
|
UTSW |
9 |
105,783,956 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4382:Col6a6
|
UTSW |
9 |
105,783,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4516:Col6a6
|
UTSW |
9 |
105,698,949 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R4666:Col6a6
|
UTSW |
9 |
105,767,342 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4905:Col6a6
|
UTSW |
9 |
105,767,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4923:Col6a6
|
UTSW |
9 |
105,788,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4951:Col6a6
|
UTSW |
9 |
105,767,198 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5002:Col6a6
|
UTSW |
9 |
105,786,093 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5111:Col6a6
|
UTSW |
9 |
105,709,474 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5205:Col6a6
|
UTSW |
9 |
105,782,033 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5399:Col6a6
|
UTSW |
9 |
105,709,107 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5475:Col6a6
|
UTSW |
9 |
105,774,338 (GRCm38) |
missense |
probably null |
0.79 |
|
R5491:Col6a6
|
UTSW |
9 |
105,738,236 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5758:Col6a6
|
UTSW |
9 |
105,761,518 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5934:Col6a6
|
UTSW |
9 |
105,767,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6059:Col6a6
|
UTSW |
9 |
105,783,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6284:Col6a6
|
UTSW |
9 |
105,727,227 (GRCm38) |
splice site |
probably null |
|
|
R6425:Col6a6
|
UTSW |
9 |
105,698,865 (GRCm38) |
missense |
probably benign |
0.21 |
|
R6464:Col6a6
|
UTSW |
9 |
105,788,953 (GRCm38) |
start codon destroyed |
probably null |
0.60 |
|
R6469:Col6a6
|
UTSW |
9 |
105,698,691 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6520:Col6a6
|
UTSW |
9 |
105,785,825 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6552:Col6a6
|
UTSW |
9 |
105,698,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6750:Col6a6
|
UTSW |
9 |
105,783,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6813:Col6a6
|
UTSW |
9 |
105,783,941 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7032:Col6a6
|
UTSW |
9 |
105,767,508 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7260:Col6a6
|
UTSW |
9 |
105,783,969 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7472:Col6a6
|
UTSW |
9 |
105,782,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7541:Col6a6
|
UTSW |
9 |
105,767,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7640:Col6a6
|
UTSW |
9 |
105,785,744 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R7645:Col6a6
|
UTSW |
9 |
105,767,198 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7716:Col6a6
|
UTSW |
9 |
105,783,903 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7866:Col6a6
|
UTSW |
9 |
105,689,561 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7938:Col6a6
|
UTSW |
9 |
105,780,684 (GRCm38) |
nonsense |
probably null |
|
|
R8016:Col6a6
|
UTSW |
9 |
105,767,528 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8043:Col6a6
|
UTSW |
9 |
105,699,020 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8073:Col6a6
|
UTSW |
9 |
105,781,947 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8082:Col6a6
|
UTSW |
9 |
105,783,930 (GRCm38) |
nonsense |
probably null |
|
|
R8243:Col6a6
|
UTSW |
9 |
105,699,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8306:Col6a6
|
UTSW |
9 |
105,784,073 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8324:Col6a6
|
UTSW |
9 |
105,755,654 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8384:Col6a6
|
UTSW |
9 |
105,755,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8400:Col6a6
|
UTSW |
9 |
105,774,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8523:Col6a6
|
UTSW |
9 |
105,774,788 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8842:Col6a6
|
UTSW |
9 |
105,777,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8862:Col6a6
|
UTSW |
9 |
105,786,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8907:Col6a6
|
UTSW |
9 |
105,767,329 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9021:Col6a6
|
UTSW |
9 |
105,709,546 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9088:Col6a6
|
UTSW |
9 |
105,784,077 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9178:Col6a6
|
UTSW |
9 |
105,781,970 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9225:Col6a6
|
UTSW |
9 |
105,782,238 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R9340:Col6a6
|
UTSW |
9 |
105,774,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9342:Col6a6
|
UTSW |
9 |
105,785,973 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9360:Col6a6
|
UTSW |
9 |
105,767,487 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9368:Col6a6
|
UTSW |
9 |
105,786,101 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9398:Col6a6
|
UTSW |
9 |
105,774,626 (GRCm38) |
missense |
probably benign |
0.40 |
|
R9450:Col6a6
|
UTSW |
9 |
105,784,174 (GRCm38) |
missense |
probably benign |
|
|
R9454:Col6a6
|
UTSW |
9 |
105,783,860 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9458:Col6a6
|
UTSW |
9 |
105,709,162 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9563:Col6a6
|
UTSW |
9 |
105,695,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9568:Col6a6
|
UTSW |
9 |
105,780,727 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R9613:Col6a6
|
UTSW |
9 |
105,739,202 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9664:Col6a6
|
UTSW |
9 |
105,781,055 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9747:Col6a6
|
UTSW |
9 |
105,784,040 (GRCm38) |
missense |
probably benign |
0.29 |
|
R9760:Col6a6
|
UTSW |
9 |
105,782,054 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0022:Col6a6
|
UTSW |
9 |
105,699,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Col6a6
|
UTSW |
9 |
105,780,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Col6a6
|
UTSW |
9 |
105,788,895 (GRCm38) |
missense |
probably null |
0.24 |
|
Z1177:Col6a6
|
UTSW |
9 |
105,728,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCCAGTATGTGTCCCGAACCC -3'
(R):5'- GAAATGCTTTATGCGCTCTGCTCAC -3'
Sequencing Primer
(F):5'- GAACCCCAGTGAGACCTGC -3'
(R):5'- CCACTGACTGGGACATTCTATTAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation