Incidental Mutation 'R0281:Col6a6'
| ID |
37537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a6
|
| Ensembl Gene |
ENSMUSG00000043719 |
| Gene Name |
collagen, type VI, alpha 6 |
| Synonyms |
E330026B02Rik |
| MMRRC Submission |
038503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R0281 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105566616-105705413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105661315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 265
(M265L)
|
| 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: M265L
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000060840
Gene: ENSMUSG00000043719
AA Change: M265L
| 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: M265L
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: M265L
| 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: M265L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: M265L
| 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 |
0.1883 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
98% (104/106) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
T |
4: 62,464,304 (GRCm39) |
R374* |
probably null |
Het |
| 5930422O12Rik |
A |
T |
8: 33,919,407 (GRCm39) |
R76* |
probably null |
Het |
| A1cf |
G |
A |
19: 31,923,214 (GRCm39) |
A505T |
probably benign |
Het |
| Abcc5 |
T |
A |
16: 20,241,150 (GRCm39) |
I12F |
probably damaging |
Het |
| Abcf2 |
T |
C |
5: 24,771,562 (GRCm39) |
E555G |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,750,033 (GRCm39) |
E1601D |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Adam2 |
T |
A |
14: 66,275,055 (GRCm39) |
K559N |
probably benign |
Het |
| Akap11 |
A |
C |
14: 78,747,529 (GRCm39) |
D1619E |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,622,307 (GRCm39) |
D515G |
probably benign |
Het |
| Ankrd27 |
T |
A |
7: 35,318,796 (GRCm39) |
N562K |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,044,131 (GRCm39) |
I119T |
probably benign |
Het |
| Atr |
T |
C |
9: 95,819,619 (GRCm39) |
I2202T |
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,162,750 (GRCm39) |
L871F |
possibly damaging |
Het |
| Brd4 |
T |
A |
17: 32,432,514 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
C |
T |
7: 29,405,996 (GRCm39) |
C634Y |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,961,553 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,966,230 (GRCm39) |
I366F |
probably damaging |
Het |
| Cnga4 |
G |
T |
7: 105,056,875 (GRCm39) |
R326L |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 99,999,878 (GRCm39) |
M212K |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,505,677 (GRCm39) |
I727F |
probably damaging |
Het |
| Cyp26b1 |
A |
T |
6: 84,551,538 (GRCm39) |
F417Y |
probably damaging |
Het |
| Dhx15 |
A |
T |
5: 52,308,088 (GRCm39) |
M768K |
probably benign |
Het |
| Drc7 |
G |
A |
8: 95,797,881 (GRCm39) |
R433H |
possibly damaging |
Het |
| Duox2 |
C |
T |
2: 122,122,785 (GRCm39) |
V550M |
probably benign |
Het |
| Elmo2 |
A |
G |
2: 165,138,810 (GRCm39) |
L456P |
probably damaging |
Het |
| Fbxo39 |
T |
C |
11: 72,208,356 (GRCm39) |
I236T |
probably benign |
Het |
| Fezf2 |
A |
G |
14: 12,343,977 (GRCm38) |
C305R |
probably damaging |
Het |
| Fndc3b |
C |
A |
3: 27,511,155 (GRCm39) |
C785F |
probably benign |
Het |
| Gm12253 |
T |
C |
11: 58,330,838 (GRCm39) |
|
probably benign |
Het |
| Gnat2 |
T |
A |
3: 108,002,878 (GRCm39) |
Y95* |
probably null |
Het |
| Gopc |
T |
C |
10: 52,226,774 (GRCm39) |
K220E |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,392,314 (GRCm39) |
D193N |
possibly damaging |
Het |
| Hexa |
G |
A |
9: 59,461,509 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
T |
C |
3: 40,739,840 (GRCm39) |
|
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,664,332 (GRCm39) |
S301P |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,752,166 (GRCm39) |
S1307T |
possibly damaging |
Het |
| Igtp |
T |
C |
11: 58,096,880 (GRCm39) |
L17P |
probably damaging |
Het |
| Itk |
T |
C |
11: 46,244,743 (GRCm39) |
Y225C |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,830,088 (GRCm39) |
V560A |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,564 (GRCm39) |
N2875D |
probably damaging |
Het |
| Lasp1 |
C |
A |
11: 97,697,677 (GRCm39) |
C32* |
probably null |
Het |
| Lcp2 |
T |
A |
11: 34,019,854 (GRCm39) |
|
probably benign |
Het |
| Lhx9 |
C |
T |
1: 138,760,642 (GRCm39) |
G236D |
probably benign |
Het |
| Lrrc38 |
A |
T |
4: 143,076,979 (GRCm39) |
I81F |
probably damaging |
Het |
| Ly6a |
C |
T |
15: 74,867,236 (GRCm39) |
V94M |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,732,907 (GRCm39) |
E503G |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,624,541 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,230,027 (GRCm39) |
I915N |
probably damaging |
Het |
| Msantd2 |
G |
A |
9: 37,434,515 (GRCm39) |
D252N |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,257,792 (GRCm39) |
L290* |
probably null |
Het |
| Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
| Naglu |
T |
A |
11: 100,964,853 (GRCm39) |
N313K |
probably damaging |
Het |
| Nceh1 |
T |
C |
3: 27,276,953 (GRCm39) |
V92A |
possibly damaging |
Het |
| Ncf4 |
A |
G |
15: 78,135,083 (GRCm39) |
T47A |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,187,164 (GRCm39) |
F403L |
probably damaging |
Het |
| Nxph3 |
T |
C |
11: 95,402,082 (GRCm39) |
T111A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,929,441 (GRCm39) |
E6061V |
probably damaging |
Het |
| Obsl1 |
C |
A |
1: 75,469,571 (GRCm39) |
G1149W |
probably damaging |
Het |
| Or14c39 |
A |
G |
7: 86,344,068 (GRCm39) |
T135A |
probably benign |
Het |
| Or2k2 |
A |
T |
4: 58,784,981 (GRCm39) |
V247E |
probably damaging |
Het |
| Or2p2 |
T |
A |
13: 21,256,544 (GRCm39) |
Y309F |
probably benign |
Het |
| Or5b123 |
A |
G |
19: 13,596,849 (GRCm39) |
T65A |
probably benign |
Het |
| Or5d14 |
C |
T |
2: 87,880,756 (GRCm39) |
V71I |
possibly damaging |
Het |
| Or5p68 |
A |
C |
7: 107,946,121 (GRCm39) |
D22E |
probably benign |
Het |
| Or6c70 |
T |
A |
10: 129,710,415 (GRCm39) |
L70F |
possibly damaging |
Het |
| Pde9a |
T |
C |
17: 31,674,080 (GRCm39) |
V55A |
probably damaging |
Het |
| Pip4k2c |
A |
T |
10: 127,041,690 (GRCm39) |
|
probably null |
Het |
| Plvap |
T |
C |
8: 71,964,026 (GRCm39) |
N112S |
probably damaging |
Het |
| Pop1 |
T |
A |
15: 34,530,004 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
T |
C |
1: 97,644,278 (GRCm39) |
H1113R |
possibly damaging |
Het |
| Ptprk |
A |
T |
10: 28,449,388 (GRCm39) |
I962F |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,043 (GRCm39) |
S322P |
possibly damaging |
Het |
| Rasal1 |
A |
G |
5: 120,812,670 (GRCm39) |
T565A |
probably benign |
Het |
| Rbm15 |
C |
A |
3: 107,238,471 (GRCm39) |
R642S |
probably damaging |
Het |
| Rpsa |
G |
A |
9: 119,960,069 (GRCm39) |
E211K |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,517,155 (GRCm39) |
S3303P |
probably damaging |
Het |
| Scg2 |
T |
A |
1: 79,413,229 (GRCm39) |
N458I |
possibly damaging |
Het |
| Setx |
A |
G |
2: 29,069,655 (GRCm39) |
T2487A |
probably benign |
Het |
| Slc4a5 |
G |
A |
6: 83,244,549 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
T |
A |
7: 15,874,914 (GRCm39) |
D387E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,310,591 (GRCm39) |
T407A |
probably benign |
Het |
| Snap25 |
A |
G |
2: 136,619,384 (GRCm39) |
D179G |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,527,325 (GRCm39) |
S74P |
probably benign |
Het |
| Sp6 |
T |
A |
11: 96,912,751 (GRCm39) |
Y155N |
probably benign |
Het |
| Srrt |
C |
T |
5: 137,294,389 (GRCm39) |
|
probably benign |
Het |
| Steap1 |
C |
T |
5: 5,786,431 (GRCm39) |
M335I |
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,052,772 (GRCm39) |
Y250F |
probably benign |
Het |
| Svil |
T |
C |
18: 5,094,582 (GRCm39) |
S1421P |
probably damaging |
Het |
| Tcea3 |
G |
A |
4: 135,998,677 (GRCm39) |
C317Y |
probably damaging |
Het |
| Tmco6 |
T |
C |
18: 36,870,757 (GRCm39) |
L117S |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,100,718 (GRCm39) |
K89E |
probably damaging |
Het |
| Trp63 |
T |
A |
16: 25,583,052 (GRCm39) |
|
probably benign |
Het |
| Ube2d2a |
A |
G |
18: 35,933,185 (GRCm39) |
Y74C |
probably damaging |
Het |
| Usp19 |
T |
G |
9: 108,375,708 (GRCm39) |
F885V |
probably damaging |
Het |
| Utp18 |
T |
A |
11: 93,773,003 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,620,387 (GRCm39) |
I707T |
possibly damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,723,540 (GRCm39) |
P1848S |
probably benign |
Het |
| Zfp984 |
G |
T |
4: 147,839,722 (GRCm39) |
N376K |
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 |
|
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 |
|
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'- AGTCCGTTCTGAGAAGACAGAGACC -3'
(R):5'- GCTGACCTTCCTGAGATAACTGTGC -3'
Sequencing Primer
(F):5'- ATGGTAAAGATGGTCACTCCCTC -3'
(R):5'- CCTGAGATAACTGTGCTGACTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation