Incidental Mutation 'R7472:Col6a6'
| ID |
581303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a6
|
| Ensembl Gene |
ENSMUSG00000043719 |
| Gene Name |
collagen, type VI, alpha 6 |
| Synonyms |
E330026B02Rik |
| MMRRC Submission |
045546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105566616-105705413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105659622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 441
(D441V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060896]
[ENSMUST00000098441]
[ENSMUST00000166431]
|
| AlphaFold |
Q8C6K9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060896
AA Change: D441V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060840
Gene: ENSMUSG00000043719
AA Change: D441V
| 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 damaging
Transcript: ENSMUST00000098441
AA Change: D441V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: D441V
| 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 damaging
Transcript: ENSMUST00000166431
AA Change: D441V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: D441V
| 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 |
0.9051 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (99/100) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,545,219 (GRCm39) |
I78T |
probably benign |
Het |
| 4921524J17Rik |
G |
A |
8: 86,159,438 (GRCm39) |
|
probably benign |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,744 (GRCm39) |
T131A |
probably benign |
Het |
| Acbd6 |
G |
T |
1: 155,463,213 (GRCm39) |
E138* |
probably null |
Het |
| Ago3 |
A |
G |
4: 126,239,310 (GRCm39) |
V847A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Als2cl |
C |
A |
9: 110,727,174 (GRCm39) |
H913Q |
probably benign |
Het |
| Atf6 |
A |
C |
1: 170,643,060 (GRCm39) |
S360R |
possibly damaging |
Het |
| Atm |
G |
C |
9: 53,359,425 (GRCm39) |
N2789K |
possibly damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bpifa6 |
A |
T |
2: 153,831,249 (GRCm39) |
I272F |
possibly damaging |
Het |
| Cabin1 |
G |
T |
10: 75,494,481 (GRCm39) |
P1633T |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,209,131 (GRCm39) |
V119A |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,153,974 (GRCm39) |
E1082G |
probably benign |
Het |
| Cchcr1 |
C |
A |
17: 35,839,248 (GRCm39) |
A479D |
probably damaging |
Het |
| Chpt1 |
C |
T |
10: 88,312,230 (GRCm39) |
V349I |
probably benign |
Het |
| Cldn13 |
A |
T |
5: 134,943,975 (GRCm39) |
I70K |
probably damaging |
Het |
| Cpne5 |
G |
T |
17: 29,423,714 (GRCm39) |
T138K |
probably benign |
Het |
| Creb3l3 |
A |
T |
10: 80,925,301 (GRCm39) |
|
probably null |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
| Cyp19a1 |
A |
G |
9: 54,074,277 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Cyth4 |
T |
C |
15: 78,490,094 (GRCm39) |
F72S |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,240,484 (GRCm39) |
Q9K |
unknown |
Het |
| Dnah1 |
T |
A |
14: 30,983,547 (GRCm39) |
I4099F |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,022,748 (GRCm39) |
I1130F |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,578,592 (GRCm39) |
K3117R |
probably benign |
Het |
| Dpf3 |
A |
T |
12: 83,319,159 (GRCm39) |
S275R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,257,578 (GRCm39) |
N2450S |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,632,109 (GRCm39) |
R4460W |
probably damaging |
Het |
| Ecm1 |
A |
C |
3: 95,642,632 (GRCm39) |
C414G |
possibly damaging |
Het |
| Eef2 |
G |
A |
10: 81,015,384 (GRCm39) |
D302N |
probably benign |
Het |
| Egf |
T |
C |
3: 129,479,912 (GRCm39) |
D1038G |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,467 (GRCm39) |
S147P |
probably damaging |
Het |
| Esam |
C |
A |
9: 37,448,863 (GRCm39) |
P324T |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,301 (GRCm39) |
D99G |
probably damaging |
Het |
| Fhad1 |
G |
A |
4: 141,691,937 (GRCm39) |
R400C |
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,357,017 (GRCm39) |
Y36C |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,515,893 (GRCm39) |
T638A |
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,967 (GRCm39) |
T563A |
probably benign |
Het |
| Gm8180 |
T |
A |
14: 44,021,094 (GRCm39) |
N38I |
possibly damaging |
Het |
| Hs3st4 |
A |
G |
7: 123,996,249 (GRCm39) |
E305G |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,791,338 (GRCm39) |
F191I |
probably benign |
Het |
| Irx3 |
T |
G |
8: 92,526,625 (GRCm39) |
T360P |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,380,357 (GRCm39) |
I1375N |
probably benign |
Het |
| Klrh1 |
A |
T |
6: 129,752,345 (GRCm39) |
F57I |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,963,369 (GRCm39) |
I1314F |
possibly damaging |
Het |
| Lamb2 |
C |
A |
9: 108,363,347 (GRCm39) |
A842D |
probably benign |
Het |
| Ldlrap1 |
A |
G |
4: 134,486,307 (GRCm39) |
Y51H |
possibly damaging |
Het |
| Leo1 |
A |
G |
9: 75,355,623 (GRCm39) |
D321G |
probably damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,511,226 (GRCm39) |
S285P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,860 (GRCm39) |
V4881A |
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,481 (GRCm39) |
F333I |
probably damaging |
Het |
| Micall1 |
T |
C |
15: 79,006,760 (GRCm39) |
S196P |
unknown |
Het |
| Mrps21 |
T |
C |
3: 95,770,110 (GRCm39) |
N73S |
probably benign |
Het |
| Msantd5f5 |
G |
A |
4: 73,542,736 (GRCm39) |
G79S |
probably damaging |
Het |
| Msln |
C |
T |
17: 25,969,708 (GRCm39) |
V341M |
possibly damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,962,001 (GRCm39) |
M840L |
probably damaging |
Het |
| Myo7a |
A |
C |
7: 97,714,000 (GRCm39) |
F1613V |
probably damaging |
Het |
| Naprt |
C |
T |
15: 75,763,607 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
C |
11: 101,462,765 (GRCm39) |
V572A |
probably damaging |
Het |
| Nfkbie |
A |
T |
17: 45,870,233 (GRCm39) |
T193S |
probably damaging |
Het |
| Nlrp14 |
T |
G |
7: 106,789,251 (GRCm39) |
N672K |
probably benign |
Het |
| Or11l3 |
A |
T |
11: 58,516,260 (GRCm39) |
I204N |
probably damaging |
Het |
| Or4b1d |
A |
G |
2: 89,968,668 (GRCm39) |
Y272H |
probably damaging |
Het |
| Or52ab2 |
A |
G |
7: 102,969,656 (GRCm39) |
T13A |
|
Het |
| Or5b101 |
T |
C |
19: 13,005,439 (GRCm39) |
T85A |
probably benign |
Het |
| Or6k14 |
A |
T |
1: 173,927,299 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b49 |
A |
T |
9: 38,506,200 (GRCm39) |
I228L |
probably benign |
Het |
| Oscar |
T |
C |
7: 3,614,149 (GRCm39) |
T197A |
possibly damaging |
Het |
| P3h3 |
C |
A |
6: 124,827,594 (GRCm39) |
A481S |
possibly damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,008,691 (GRCm39) |
|
probably null |
Het |
| Pcsk9 |
A |
T |
4: 106,316,094 (GRCm39) |
H116Q |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,091,540 (GRCm39) |
F520L |
possibly damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,580 (GRCm39) |
T1261A |
probably benign |
Het |
| Ribc2 |
T |
A |
15: 85,019,446 (GRCm39) |
M76K |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,479,853 (GRCm39) |
E853G |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,414,180 (GRCm39) |
D940G |
probably damaging |
Het |
| Smarcb1 |
T |
A |
10: 75,733,373 (GRCm39) |
N342Y |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,726,921 (GRCm39) |
I469N |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,421 (GRCm39) |
I4530V |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,074,065 (GRCm39) |
Y2335H |
probably damaging |
Het |
| Suz12 |
C |
T |
11: 79,915,801 (GRCm39) |
R425C |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,762,895 (GRCm39) |
A4V |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,649,129 (GRCm39) |
S157A |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,637,415 (GRCm39) |
E173G |
possibly damaging |
Het |
| Timmdc1 |
A |
T |
16: 38,325,780 (GRCm39) |
L197* |
probably null |
Het |
| Tmem63c |
T |
C |
12: 87,115,932 (GRCm39) |
F191S |
possibly damaging |
Het |
| Tnn |
G |
A |
1: 159,937,917 (GRCm39) |
T1200I |
probably benign |
Het |
| Traf6 |
A |
G |
2: 101,527,537 (GRCm39) |
H429R |
probably benign |
Het |
| Trem3 |
T |
C |
17: 48,556,873 (GRCm39) |
S115P |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,851,639 (GRCm39) |
N808K |
probably benign |
Het |
| Trub2 |
A |
T |
2: 29,673,385 (GRCm39) |
V106E |
probably damaging |
Het |
| Ugcg |
A |
G |
4: 59,217,156 (GRCm39) |
I227V |
probably benign |
Het |
| Vat1l |
G |
A |
8: 114,963,539 (GRCm39) |
|
probably null |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,824 (GRCm39) |
M190T |
possibly damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,182,953 (GRCm39) |
T249A |
probably benign |
Het |
| Zfp729b |
A |
C |
13: 67,742,002 (GRCm39) |
S88A |
probably benign |
Het |
| Zfp995 |
T |
C |
17: 22,099,181 (GRCm39) |
Y351C |
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 |
|
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 |
|
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'- GTGTGAAGTTCAAAGCCGCC -3'
(R):5'- AAGTCTTTGATGCTGGGAAGTTAC -3'
Sequencing Primer
(F):5'- ATGGCCTTTCCCAAGTCAGG -3'
(R):5'- AAGTTACTTCCATCTTCCTTCTGTAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation