Incidental Mutation 'R1944:Col6a6'
| ID |
216471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a6
|
| Ensembl Gene |
ENSMUSG00000043719 |
| Gene Name |
collagen, type VI, alpha 6 |
| Synonyms |
E330026B02Rik |
| MMRRC Submission |
039962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R1944 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
105566616-105705413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105586583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1813
(R1813C)
|
| 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: R1813C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: R1813C
| 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: R1813C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: R1813C
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,980,796 (GRCm39) |
N593Y |
probably damaging |
Het |
| Adamts16 |
C |
T |
13: 70,940,005 (GRCm39) |
S406N |
possibly damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,733,928 (GRCm39) |
V350I |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,659,030 (GRCm39) |
D2051E |
probably damaging |
Het |
| Adrb2 |
C |
A |
18: 62,312,484 (GRCm39) |
V114L |
probably damaging |
Het |
| Ago3 |
A |
G |
4: 126,247,520 (GRCm39) |
V599A |
probably damaging |
Het |
| AI837181 |
T |
C |
19: 5,476,257 (GRCm39) |
V140A |
probably damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,788,443 (GRCm39) |
|
probably null |
Het |
| Arnt2 |
A |
G |
7: 83,992,959 (GRCm39) |
S194P |
probably benign |
Het |
| Art2b |
T |
C |
7: 101,229,153 (GRCm39) |
N249D |
probably benign |
Het |
| Atat1 |
A |
G |
17: 36,220,232 (GRCm39) |
L60P |
probably damaging |
Het |
| Atp2b1 |
A |
T |
10: 98,858,793 (GRCm39) |
I1159F |
probably damaging |
Het |
| Atrip |
T |
A |
9: 108,900,935 (GRCm39) |
I135F |
probably damaging |
Het |
| Bbs4 |
T |
G |
9: 59,237,698 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
A |
T |
13: 100,210,889 (GRCm39) |
|
probably null |
Het |
| Best2 |
A |
G |
8: 85,737,390 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
A |
G |
6: 118,583,227 (GRCm39) |
I1516T |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,599,479 (GRCm39) |
I276V |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,736,087 (GRCm39) |
S610P |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,719,745 (GRCm39) |
I375V |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,101,009 (GRCm39) |
P30S |
probably damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,520,835 (GRCm39) |
I46V |
probably benign |
Het |
| Clec11a |
G |
T |
7: 43,954,098 (GRCm39) |
T285K |
probably benign |
Het |
| Clk3 |
G |
T |
9: 57,672,469 (GRCm39) |
T111K |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,789,078 (GRCm39) |
V798I |
unknown |
Het |
| Ctrb1 |
C |
A |
8: 112,416,151 (GRCm39) |
W45L |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,283,349 (GRCm39) |
S3530C |
probably benign |
Het |
| Dio1 |
A |
G |
4: 107,163,977 (GRCm39) |
|
probably null |
Het |
| Dock5 |
A |
T |
14: 67,994,584 (GRCm39) |
Y1825* |
probably null |
Het |
| Duox1 |
A |
T |
2: 122,177,001 (GRCm39) |
Q1476L |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,001,377 (GRCm39) |
H3877Q |
probably damaging |
Het |
| Enkd1 |
A |
G |
8: 106,434,208 (GRCm39) |
S85P |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,758 (GRCm39) |
D139G |
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,312,776 (GRCm39) |
S202P |
probably damaging |
Het |
| F11r |
T |
C |
1: 171,289,459 (GRCm39) |
Y261H |
probably damaging |
Het |
| Glp2r |
A |
T |
11: 67,637,618 (GRCm39) |
S138T |
probably benign |
Het |
| Gpt2 |
A |
G |
8: 86,244,625 (GRCm39) |
Y306C |
probably damaging |
Het |
| Grid2 |
G |
C |
6: 63,886,045 (GRCm39) |
R147P |
probably damaging |
Het |
| Gtdc1 |
A |
G |
2: 44,642,198 (GRCm39) |
F128L |
possibly damaging |
Het |
| H2-T15 |
A |
G |
17: 36,368,897 (GRCm39) |
F61S |
probably damaging |
Het |
| Hacd4 |
T |
C |
4: 88,341,303 (GRCm39) |
T154A |
possibly damaging |
Het |
| Heatr6 |
G |
T |
11: 83,660,046 (GRCm39) |
L530F |
probably damaging |
Het |
| Hoxd8 |
A |
T |
2: 74,537,056 (GRCm39) |
D256V |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,931,089 (GRCm39) |
N865D |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,927,084 (GRCm39) |
P277T |
possibly damaging |
Het |
| Klc4 |
T |
C |
17: 46,947,553 (GRCm39) |
N383S |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,995,908 (GRCm39) |
Y150C |
possibly damaging |
Het |
| Krt32 |
T |
A |
11: 99,975,670 (GRCm39) |
|
probably null |
Het |
| Krt33a |
T |
C |
11: 99,903,535 (GRCm39) |
N199S |
probably benign |
Het |
| Krt39 |
A |
C |
11: 99,410,649 (GRCm39) |
D174E |
probably damaging |
Het |
| Krt82 |
G |
A |
15: 101,456,970 (GRCm39) |
R137W |
probably damaging |
Het |
| Lgmn |
A |
T |
12: 102,368,183 (GRCm39) |
S193T |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 67,156,442 (GRCm39) |
R300H |
probably damaging |
Het |
| Lrpap1 |
T |
A |
5: 35,254,974 (GRCm39) |
I221F |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,264,459 (GRCm39) |
D4883G |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,973,524 (GRCm39) |
V485A |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,750,859 (GRCm39) |
T831A |
probably benign |
Het |
| Mdfic2 |
A |
G |
6: 98,225,151 (GRCm39) |
I44T |
probably benign |
Het |
| Megf6 |
C |
G |
4: 154,340,523 (GRCm39) |
D471E |
possibly damaging |
Het |
| Mettl8 |
A |
T |
2: 70,803,623 (GRCm39) |
F268L |
probably damaging |
Het |
| Miip |
T |
C |
4: 147,950,422 (GRCm39) |
E58G |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,466,840 (GRCm39) |
S1308C |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,392,909 (GRCm39) |
F2194L |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,552,391 (GRCm39) |
N1817S |
probably damaging |
Het |
| Ndel1 |
A |
T |
11: 68,720,746 (GRCm39) |
H313Q |
probably benign |
Het |
| Neb |
A |
T |
2: 52,118,862 (GRCm39) |
H3931Q |
probably benign |
Het |
| Nfkb2 |
T |
A |
19: 46,296,491 (GRCm39) |
V253E |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,571,979 (GRCm39) |
I308T |
probably damaging |
Het |
| Nono |
T |
C |
X: 100,485,429 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
A |
11: 6,164,588 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,448,774 (GRCm39) |
T155A |
probably benign |
Het |
| Oosp2 |
C |
T |
19: 11,626,959 (GRCm39) |
|
probably null |
Het |
| Or2b2 |
A |
T |
13: 21,887,287 (GRCm39) |
I39F |
possibly damaging |
Het |
| Pdap1 |
G |
A |
5: 145,069,726 (GRCm39) |
T93I |
probably benign |
Het |
| Pde6c |
T |
A |
19: 38,145,967 (GRCm39) |
D418E |
probably damaging |
Het |
| Pdha1 |
T |
A |
X: 158,910,354 (GRCm39) |
D255V |
probably damaging |
Het |
| Polr2h |
T |
A |
16: 20,537,796 (GRCm39) |
D64E |
probably benign |
Het |
| Psmb3 |
T |
C |
11: 97,601,981 (GRCm39) |
F117S |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,418,249 (GRCm39) |
M1709K |
probably benign |
Het |
| Rbm15 |
C |
T |
3: 107,238,868 (GRCm39) |
R510H |
probably damaging |
Het |
| Rgs7 |
A |
T |
1: 174,980,769 (GRCm39) |
M85K |
possibly damaging |
Het |
| Rpl27-ps3 |
T |
A |
18: 6,332,669 (GRCm39) |
V13D |
probably damaging |
Het |
| Rtp2 |
T |
A |
16: 23,746,316 (GRCm39) |
D105V |
possibly damaging |
Het |
| Scd3 |
T |
C |
19: 44,224,219 (GRCm39) |
Y151H |
probably benign |
Het |
| Slc30a6 |
T |
G |
17: 74,715,858 (GRCm39) |
V106G |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,785,276 (GRCm39) |
I105V |
probably benign |
Het |
| Sun3 |
T |
C |
11: 8,988,296 (GRCm39) |
I9V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,121,318 (GRCm39) |
V5928A |
probably damaging |
Het |
| Tbr1 |
T |
A |
2: 61,642,600 (GRCm39) |
S622T |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,871,889 (GRCm39) |
N306D |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 127,860,828 (GRCm39) |
*1098Q |
probably null |
Het |
| Tmem140 |
T |
C |
6: 34,849,747 (GRCm39) |
Y88H |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,964 (GRCm39) |
V95E |
possibly damaging |
Het |
| Vamp3 |
A |
G |
4: 151,140,617 (GRCm39) |
|
probably null |
Het |
| Vmn1r235 |
A |
C |
17: 21,481,785 (GRCm39) |
T37P |
probably damaging |
Het |
| Vmn2r81 |
T |
G |
10: 79,129,571 (GRCm39) |
L821V |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,160,500 (GRCm39) |
D545G |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,793,558 (GRCm39) |
D437V |
probably damaging |
Het |
| Wtip |
A |
T |
7: 33,818,363 (GRCm39) |
M268K |
probably benign |
Het |
| Zfhx2 |
G |
T |
14: 55,312,189 (GRCm39) |
F168L |
probably benign |
Het |
| Zscan22 |
G |
A |
7: 12,637,767 (GRCm39) |
R53K |
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 |
|
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 |
|
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'- AACGTGGCGATTCTTCTCAC -3'
(R):5'- ATCCTACATGACAGGAAGCATGG -3'
Sequencing Primer
(F):5'- TTCTCACATGAGCCCCTGGAAG -3'
(R):5'- CAGTGCATCCAACTGAGTTG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation