Incidental Mutation 'R0433:Col6a4'
ID |
38933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col6a4
|
Ensembl Gene |
ENSMUSG00000032572 |
Gene Name |
collagen, type VI, alpha 4 |
Synonyms |
Vwa6, EG235580, 1110001D15Rik, Dvwa |
MMRRC Submission |
038635-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0433 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105866653-105973982 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 105945193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 974
(G974R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121963]
|
AlphaFold |
A2AX52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121963
AA Change: G974R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112472 Gene: ENSMUSG00000032572 AA Change: G974R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
VWA
|
32 |
211 |
2.44e-35 |
SMART |
VWA
|
233 |
410 |
8.67e-50 |
SMART |
VWA
|
428 |
604 |
2.74e-29 |
SMART |
VWA
|
632 |
816 |
4.78e-20 |
SMART |
VWA
|
847 |
1019 |
3.02e-40 |
SMART |
VWA
|
1028 |
1204 |
3.17e-43 |
SMART |
VWA
|
1210 |
1391 |
4.73e-1 |
SMART |
low complexity region
|
1444 |
1462 |
N/A |
INTRINSIC |
PDB:3HR2|B
|
1469 |
1593 |
3e-7 |
PDB |
low complexity region
|
1594 |
1622 |
N/A |
INTRINSIC |
low complexity region
|
1625 |
1643 |
N/A |
INTRINSIC |
low complexity region
|
1649 |
1671 |
N/A |
INTRINSIC |
Pfam:Collagen
|
1684 |
1748 |
1.4e-9 |
PFAM |
VWA
|
1774 |
1953 |
2.18e-14 |
SMART |
VWA
|
1980 |
2174 |
1.89e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137847
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.3%
|
Validation Efficiency |
99% (108/109) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
T |
C |
3: 68,777,636 (GRCm39) |
V199A |
possibly damaging |
Het |
Abcb5 |
T |
C |
12: 118,841,545 (GRCm39) |
M967V |
probably benign |
Het |
Adcy10 |
T |
A |
1: 165,379,591 (GRCm39) |
L951Q |
probably damaging |
Het |
Amer2 |
A |
T |
14: 60,616,032 (GRCm39) |
S76C |
probably damaging |
Het |
Atad1 |
T |
C |
19: 32,675,877 (GRCm39) |
I182M |
probably benign |
Het |
Bpi |
A |
G |
2: 158,100,339 (GRCm39) |
D42G |
probably damaging |
Het |
C7 |
G |
T |
15: 5,018,398 (GRCm39) |
T815K |
probably damaging |
Het |
Cacna1g |
T |
A |
11: 94,350,033 (GRCm39) |
D604V |
probably benign |
Het |
Camk1g |
A |
G |
1: 193,036,366 (GRCm39) |
F165L |
probably damaging |
Het |
Ccdc69 |
C |
T |
11: 54,943,716 (GRCm39) |
|
probably null |
Het |
Ccser2 |
A |
C |
14: 36,640,486 (GRCm39) |
F37L |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,814,210 (GRCm39) |
F208S |
probably benign |
Het |
Cfap54 |
G |
A |
10: 92,814,942 (GRCm39) |
|
probably benign |
Het |
Cfap69 |
A |
C |
5: 5,699,853 (GRCm39) |
D62E |
probably damaging |
Het |
Cnksr2 |
A |
T |
X: 156,671,554 (GRCm39) |
M483K |
probably benign |
Het |
Cnksr2 |
C |
A |
X: 156,671,553 (GRCm39) |
M483I |
probably benign |
Het |
Cog8 |
T |
C |
8: 107,783,110 (GRCm39) |
S60G |
possibly damaging |
Het |
Col4a3 |
C |
T |
1: 82,647,940 (GRCm39) |
P484S |
unknown |
Het |
Cplane1 |
T |
C |
15: 8,246,046 (GRCm39) |
S1473P |
probably benign |
Het |
Dbnl |
T |
G |
11: 5,746,825 (GRCm39) |
|
probably null |
Het |
Dhcr7 |
T |
C |
7: 143,394,200 (GRCm39) |
C114R |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,350,114 (GRCm39) |
D2340Y |
probably damaging |
Het |
Dnai4 |
T |
C |
4: 102,960,450 (GRCm39) |
N67D |
probably benign |
Het |
Dusp10 |
T |
A |
1: 183,801,393 (GRCm39) |
Y387N |
probably damaging |
Het |
Eipr1 |
C |
T |
12: 28,909,330 (GRCm39) |
T199I |
possibly damaging |
Het |
Emc2 |
T |
G |
15: 43,360,520 (GRCm39) |
|
probably null |
Het |
Enpp3 |
A |
G |
10: 24,696,495 (GRCm39) |
S147P |
probably benign |
Het |
Fam133b |
T |
A |
5: 3,608,560 (GRCm39) |
|
probably benign |
Het |
Fat1 |
C |
A |
8: 45,477,686 (GRCm39) |
T2244K |
possibly damaging |
Het |
Fbn1 |
A |
G |
2: 125,190,135 (GRCm39) |
S1453P |
possibly damaging |
Het |
Fez2 |
A |
T |
17: 78,725,476 (GRCm39) |
F13I |
probably damaging |
Het |
Ggnbp2 |
T |
C |
11: 84,727,246 (GRCm39) |
K530R |
probably damaging |
Het |
Gpa33 |
T |
C |
1: 165,991,330 (GRCm39) |
|
probably benign |
Het |
Gpr142 |
T |
C |
11: 114,696,823 (GRCm39) |
I123T |
probably damaging |
Het |
Il21 |
T |
G |
3: 37,286,684 (GRCm39) |
I11L |
possibly damaging |
Het |
Klhl7 |
A |
G |
5: 24,332,700 (GRCm39) |
E86G |
probably damaging |
Het |
Klk10 |
G |
T |
7: 43,430,989 (GRCm39) |
A11S |
possibly damaging |
Het |
Knl1 |
A |
T |
2: 118,934,542 (GRCm39) |
D2115V |
probably damaging |
Het |
Lonp2 |
A |
G |
8: 87,360,582 (GRCm39) |
D185G |
probably damaging |
Het |
Lrrc47 |
T |
C |
4: 154,102,822 (GRCm39) |
|
probably benign |
Het |
Lrrcc1 |
A |
G |
3: 14,624,434 (GRCm39) |
I698V |
probably damaging |
Het |
Lzts2 |
T |
C |
19: 45,010,115 (GRCm39) |
V83A |
possibly damaging |
Het |
Melk |
C |
A |
4: 44,340,614 (GRCm39) |
|
probably benign |
Het |
Mical1 |
G |
A |
10: 41,355,486 (GRCm39) |
V150I |
probably benign |
Het |
Morn3 |
C |
A |
5: 123,177,396 (GRCm39) |
M129I |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,971,116 (GRCm39) |
D1040E |
probably benign |
Het |
Mroh5 |
T |
C |
15: 73,661,877 (GRCm39) |
N438S |
probably benign |
Het |
Mroh5 |
T |
A |
15: 73,662,657 (GRCm39) |
Q387L |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,965,599 (GRCm39) |
D1168G |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,860,927 (GRCm38) |
E493G |
probably benign |
Het |
Nipsnap3a |
A |
G |
4: 53,000,316 (GRCm39) |
Y227C |
probably damaging |
Het |
Nlrp9c |
T |
A |
7: 26,085,244 (GRCm39) |
T112S |
probably benign |
Het |
Nphp4 |
T |
C |
4: 152,602,629 (GRCm39) |
V401A |
probably benign |
Het |
Nr1h2 |
A |
G |
7: 44,199,411 (GRCm39) |
*365Q |
probably null |
Het |
Or13p5 |
T |
C |
4: 118,592,287 (GRCm39) |
V187A |
probably benign |
Het |
Or5p54 |
T |
C |
7: 107,554,469 (GRCm39) |
I207T |
probably damaging |
Het |
Pacs2 |
T |
A |
12: 113,020,464 (GRCm39) |
V279D |
possibly damaging |
Het |
Pdcd2 |
C |
T |
17: 15,746,646 (GRCm39) |
C171Y |
probably benign |
Het |
Pde11a |
T |
A |
2: 76,168,050 (GRCm39) |
D301V |
possibly damaging |
Het |
Pfpl |
T |
G |
19: 12,406,839 (GRCm39) |
N363K |
probably damaging |
Het |
Phf14 |
T |
A |
6: 11,933,742 (GRCm39) |
S201R |
probably damaging |
Het |
Pip4k2c |
G |
A |
10: 127,044,815 (GRCm39) |
P66S |
probably benign |
Het |
Pou2f3 |
G |
T |
9: 43,038,693 (GRCm39) |
H392N |
probably benign |
Het |
Pou3f1 |
G |
T |
4: 124,552,697 (GRCm39) |
G400C |
probably damaging |
Het |
Ptprg |
T |
C |
14: 12,220,620 (GRCm38) |
I1219T |
probably damaging |
Het |
Rfx6 |
A |
G |
10: 51,596,124 (GRCm39) |
D435G |
probably damaging |
Het |
Rhpn2 |
T |
A |
7: 35,084,899 (GRCm39) |
S598T |
probably benign |
Het |
Sdccag8 |
C |
A |
1: 176,672,387 (GRCm39) |
|
probably null |
Het |
Sec16b |
C |
A |
1: 157,362,279 (GRCm39) |
Y43* |
probably null |
Het |
Sele |
T |
C |
1: 163,876,813 (GRCm39) |
Y30H |
possibly damaging |
Het |
Sgsm2 |
C |
T |
11: 74,749,016 (GRCm39) |
|
probably null |
Het |
Slc45a2 |
T |
C |
15: 11,025,831 (GRCm39) |
Y394H |
probably benign |
Het |
Slc4a10 |
T |
G |
2: 62,120,327 (GRCm39) |
I788S |
probably benign |
Het |
Slmap |
A |
T |
14: 26,174,749 (GRCm39) |
L161* |
probably null |
Het |
Slx4 |
A |
T |
16: 3,803,882 (GRCm39) |
D977E |
probably benign |
Het |
Spata31e5 |
A |
T |
1: 28,816,423 (GRCm39) |
Y536* |
probably null |
Het |
Spata31f3 |
A |
G |
4: 42,874,013 (GRCm39) |
|
probably benign |
Het |
Spen |
A |
T |
4: 141,211,069 (GRCm39) |
M608K |
unknown |
Het |
St8sia4 |
G |
C |
1: 95,519,429 (GRCm39) |
T353R |
probably damaging |
Het |
Stab2 |
G |
T |
10: 86,679,355 (GRCm39) |
|
probably benign |
Het |
Stx12 |
C |
T |
4: 132,585,741 (GRCm39) |
G213D |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,084,123 (GRCm39) |
N270Y |
probably damaging |
Het |
Tdrd9 |
C |
T |
12: 111,992,015 (GRCm39) |
R438* |
probably null |
Het |
Tert |
T |
C |
13: 73,775,200 (GRCm39) |
Y18H |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,303,245 (GRCm39) |
F244L |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,852,401 (GRCm39) |
F852L |
possibly damaging |
Het |
Trpv1 |
T |
C |
11: 73,143,834 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,312,741 (GRCm39) |
|
probably null |
Het |
Ulk4 |
A |
G |
9: 120,873,885 (GRCm39) |
I1182T |
probably benign |
Het |
Uqcc1 |
A |
G |
2: 155,752,288 (GRCm39) |
Y98H |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,906,105 (GRCm39) |
I854V |
probably benign |
Het |
Usp50 |
T |
C |
2: 126,603,464 (GRCm39) |
S361G |
probably damaging |
Het |
Uspl1 |
C |
A |
5: 149,151,625 (GRCm39) |
Q743K |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,183,054 (GRCm39) |
V215A |
possibly damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,915,335 (GRCm39) |
H94L |
probably benign |
Het |
Vps37c |
T |
C |
19: 10,690,393 (GRCm39) |
V285A |
probably benign |
Het |
Vwa8 |
T |
C |
14: 79,300,116 (GRCm39) |
V983A |
probably damaging |
Het |
Zcchc9 |
C |
T |
13: 91,954,081 (GRCm39) |
R58H |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,345,302 (GRCm39) |
V1227A |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,839,959 (GRCm39) |
K64E |
probably damaging |
Het |
Zfp948 |
A |
G |
17: 21,807,764 (GRCm39) |
T319A |
probably benign |
Het |
Zp3r |
T |
G |
1: 130,504,870 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Col6a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00573:Col6a4
|
APN |
9 |
105,900,095 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00691:Col6a4
|
APN |
9 |
105,934,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01508:Col6a4
|
APN |
9 |
105,890,804 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01580:Col6a4
|
APN |
9 |
105,945,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01610:Col6a4
|
APN |
9 |
105,924,906 (GRCm39) |
splice site |
probably benign |
|
IGL01813:Col6a4
|
APN |
9 |
105,954,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01933:Col6a4
|
APN |
9 |
105,937,313 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01973:Col6a4
|
APN |
9 |
105,940,093 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02053:Col6a4
|
APN |
9 |
105,940,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02063:Col6a4
|
APN |
9 |
105,934,617 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02065:Col6a4
|
APN |
9 |
105,954,302 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02106:Col6a4
|
APN |
9 |
105,940,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02220:Col6a4
|
APN |
9 |
105,940,141 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02228:Col6a4
|
APN |
9 |
105,945,277 (GRCm39) |
missense |
probably benign |
|
IGL02234:Col6a4
|
APN |
9 |
105,890,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02294:Col6a4
|
APN |
9 |
105,943,931 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02314:Col6a4
|
APN |
9 |
105,874,355 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03065:Col6a4
|
APN |
9 |
105,918,363 (GRCm39) |
splice site |
probably benign |
|
IGL03086:Col6a4
|
APN |
9 |
105,960,061 (GRCm39) |
splice site |
probably benign |
|
IGL03185:Col6a4
|
APN |
9 |
105,896,653 (GRCm39) |
missense |
probably damaging |
0.97 |
R0092:Col6a4
|
UTSW |
9 |
105,890,513 (GRCm39) |
missense |
probably benign |
0.04 |
R0095:Col6a4
|
UTSW |
9 |
105,952,555 (GRCm39) |
missense |
probably benign |
0.03 |
R0230:Col6a4
|
UTSW |
9 |
105,949,565 (GRCm39) |
missense |
probably benign |
0.11 |
R0359:Col6a4
|
UTSW |
9 |
105,874,345 (GRCm39) |
missense |
probably benign |
|
R0415:Col6a4
|
UTSW |
9 |
105,952,279 (GRCm39) |
missense |
probably damaging |
0.99 |
R0450:Col6a4
|
UTSW |
9 |
105,957,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R0469:Col6a4
|
UTSW |
9 |
105,957,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R0490:Col6a4
|
UTSW |
9 |
105,890,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R0621:Col6a4
|
UTSW |
9 |
105,943,990 (GRCm39) |
missense |
probably damaging |
0.97 |
R0667:Col6a4
|
UTSW |
9 |
105,907,158 (GRCm39) |
splice site |
probably benign |
|
R0681:Col6a4
|
UTSW |
9 |
105,944,343 (GRCm39) |
nonsense |
probably null |
|
R0690:Col6a4
|
UTSW |
9 |
105,905,386 (GRCm39) |
splice site |
probably benign |
|
R0714:Col6a4
|
UTSW |
9 |
105,895,102 (GRCm39) |
unclassified |
probably benign |
|
R0788:Col6a4
|
UTSW |
9 |
105,949,197 (GRCm39) |
missense |
probably benign |
0.15 |
R1036:Col6a4
|
UTSW |
9 |
105,945,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R1296:Col6a4
|
UTSW |
9 |
105,940,052 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1386:Col6a4
|
UTSW |
9 |
105,940,144 (GRCm39) |
missense |
probably benign |
0.15 |
R1484:Col6a4
|
UTSW |
9 |
105,890,501 (GRCm39) |
critical splice donor site |
probably null |
|
R1528:Col6a4
|
UTSW |
9 |
105,952,419 (GRCm39) |
missense |
probably damaging |
0.99 |
R1555:Col6a4
|
UTSW |
9 |
105,878,085 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1622:Col6a4
|
UTSW |
9 |
105,874,334 (GRCm39) |
missense |
probably benign |
0.01 |
R1653:Col6a4
|
UTSW |
9 |
105,949,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R1720:Col6a4
|
UTSW |
9 |
105,903,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R1768:Col6a4
|
UTSW |
9 |
105,957,299 (GRCm39) |
missense |
probably benign |
|
R1941:Col6a4
|
UTSW |
9 |
105,952,209 (GRCm39) |
missense |
probably benign |
0.00 |
R2092:Col6a4
|
UTSW |
9 |
105,937,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R2134:Col6a4
|
UTSW |
9 |
105,943,860 (GRCm39) |
missense |
probably benign |
0.09 |
R2149:Col6a4
|
UTSW |
9 |
105,954,128 (GRCm39) |
missense |
probably benign |
0.00 |
R2174:Col6a4
|
UTSW |
9 |
105,937,331 (GRCm39) |
missense |
probably damaging |
0.98 |
R2204:Col6a4
|
UTSW |
9 |
105,937,331 (GRCm39) |
missense |
probably damaging |
0.98 |
R2248:Col6a4
|
UTSW |
9 |
105,957,158 (GRCm39) |
missense |
probably benign |
0.15 |
R2568:Col6a4
|
UTSW |
9 |
105,940,275 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3750:Col6a4
|
UTSW |
9 |
105,897,864 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3751:Col6a4
|
UTSW |
9 |
105,949,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R3776:Col6a4
|
UTSW |
9 |
105,928,900 (GRCm39) |
nonsense |
probably null |
|
R3872:Col6a4
|
UTSW |
9 |
105,890,858 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4043:Col6a4
|
UTSW |
9 |
105,949,610 (GRCm39) |
nonsense |
probably null |
|
R4056:Col6a4
|
UTSW |
9 |
105,903,665 (GRCm39) |
missense |
probably damaging |
0.98 |
R4212:Col6a4
|
UTSW |
9 |
105,952,569 (GRCm39) |
missense |
probably benign |
0.28 |
R4417:Col6a4
|
UTSW |
9 |
105,949,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R4683:Col6a4
|
UTSW |
9 |
105,957,329 (GRCm39) |
missense |
probably benign |
0.00 |
R4719:Col6a4
|
UTSW |
9 |
105,945,451 (GRCm39) |
missense |
probably damaging |
0.99 |
R4791:Col6a4
|
UTSW |
9 |
105,957,401 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4833:Col6a4
|
UTSW |
9 |
105,949,178 (GRCm39) |
missense |
probably benign |
0.00 |
R4886:Col6a4
|
UTSW |
9 |
105,937,271 (GRCm39) |
missense |
probably benign |
0.00 |
R4998:Col6a4
|
UTSW |
9 |
105,867,977 (GRCm39) |
utr 3 prime |
probably benign |
|
R5091:Col6a4
|
UTSW |
9 |
105,952,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R5113:Col6a4
|
UTSW |
9 |
105,944,159 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5129:Col6a4
|
UTSW |
9 |
105,890,576 (GRCm39) |
missense |
probably damaging |
0.98 |
R5231:Col6a4
|
UTSW |
9 |
105,902,730 (GRCm39) |
missense |
probably damaging |
0.96 |
R5297:Col6a4
|
UTSW |
9 |
105,952,066 (GRCm39) |
missense |
probably benign |
0.02 |
R5352:Col6a4
|
UTSW |
9 |
105,938,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R5438:Col6a4
|
UTSW |
9 |
105,890,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5518:Col6a4
|
UTSW |
9 |
105,949,387 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5657:Col6a4
|
UTSW |
9 |
105,949,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R5660:Col6a4
|
UTSW |
9 |
105,873,315 (GRCm39) |
missense |
probably benign |
0.01 |
R5662:Col6a4
|
UTSW |
9 |
105,945,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R5777:Col6a4
|
UTSW |
9 |
105,890,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5800:Col6a4
|
UTSW |
9 |
105,957,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R5929:Col6a4
|
UTSW |
9 |
105,940,243 (GRCm39) |
missense |
probably benign |
0.15 |
R5999:Col6a4
|
UTSW |
9 |
105,945,120 (GRCm39) |
missense |
probably benign |
0.11 |
R6243:Col6a4
|
UTSW |
9 |
105,890,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6285:Col6a4
|
UTSW |
9 |
105,952,185 (GRCm39) |
missense |
probably damaging |
0.96 |
R6288:Col6a4
|
UTSW |
9 |
105,945,462 (GRCm39) |
missense |
probably damaging |
0.99 |
R6361:Col6a4
|
UTSW |
9 |
105,943,902 (GRCm39) |
missense |
probably benign |
0.28 |
R6485:Col6a4
|
UTSW |
9 |
105,954,069 (GRCm39) |
critical splice donor site |
probably null |
|
R6490:Col6a4
|
UTSW |
9 |
105,952,191 (GRCm39) |
nonsense |
probably null |
|
R6537:Col6a4
|
UTSW |
9 |
105,945,153 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6598:Col6a4
|
UTSW |
9 |
105,877,611 (GRCm39) |
missense |
probably damaging |
0.99 |
R6643:Col6a4
|
UTSW |
9 |
105,877,830 (GRCm39) |
missense |
probably damaging |
0.96 |
R6905:Col6a4
|
UTSW |
9 |
105,937,517 (GRCm39) |
splice site |
probably null |
|
R6944:Col6a4
|
UTSW |
9 |
105,949,370 (GRCm39) |
missense |
probably damaging |
0.98 |
R7015:Col6a4
|
UTSW |
9 |
105,910,954 (GRCm39) |
critical splice donor site |
probably null |
|
R7027:Col6a4
|
UTSW |
9 |
105,944,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7088:Col6a4
|
UTSW |
9 |
105,877,885 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7200:Col6a4
|
UTSW |
9 |
105,949,448 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7238:Col6a4
|
UTSW |
9 |
105,877,519 (GRCm39) |
missense |
probably damaging |
0.99 |
R7273:Col6a4
|
UTSW |
9 |
105,877,656 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7335:Col6a4
|
UTSW |
9 |
105,954,091 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7418:Col6a4
|
UTSW |
9 |
105,900,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7421:Col6a4
|
UTSW |
9 |
105,897,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R7530:Col6a4
|
UTSW |
9 |
105,945,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R7600:Col6a4
|
UTSW |
9 |
105,944,198 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7701:Col6a4
|
UTSW |
9 |
105,960,087 (GRCm39) |
missense |
probably benign |
0.17 |
R7830:Col6a4
|
UTSW |
9 |
105,952,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R7881:Col6a4
|
UTSW |
9 |
105,957,497 (GRCm39) |
missense |
probably benign |
0.14 |
R8157:Col6a4
|
UTSW |
9 |
105,945,097 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8292:Col6a4
|
UTSW |
9 |
105,954,076 (GRCm39) |
missense |
probably benign |
0.01 |
R8309:Col6a4
|
UTSW |
9 |
105,952,414 (GRCm39) |
missense |
probably benign |
0.08 |
R8336:Col6a4
|
UTSW |
9 |
105,952,528 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8359:Col6a4
|
UTSW |
9 |
105,945,583 (GRCm39) |
missense |
probably benign |
0.00 |
R8530:Col6a4
|
UTSW |
9 |
105,957,704 (GRCm39) |
missense |
probably benign |
0.31 |
R8556:Col6a4
|
UTSW |
9 |
105,944,252 (GRCm39) |
missense |
probably damaging |
0.96 |
R8832:Col6a4
|
UTSW |
9 |
105,949,353 (GRCm39) |
missense |
probably benign |
|
R9001:Col6a4
|
UTSW |
9 |
105,944,370 (GRCm39) |
missense |
probably benign |
0.26 |
R9009:Col6a4
|
UTSW |
9 |
105,954,404 (GRCm39) |
missense |
probably benign |
0.38 |
R9069:Col6a4
|
UTSW |
9 |
105,952,138 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9155:Col6a4
|
UTSW |
9 |
105,952,209 (GRCm39) |
missense |
probably benign |
|
R9175:Col6a4
|
UTSW |
9 |
105,957,560 (GRCm39) |
missense |
probably benign |
|
R9176:Col6a4
|
UTSW |
9 |
105,938,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R9295:Col6a4
|
UTSW |
9 |
105,957,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R9298:Col6a4
|
UTSW |
9 |
105,945,534 (GRCm39) |
missense |
probably damaging |
0.96 |
R9389:Col6a4
|
UTSW |
9 |
105,877,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R9424:Col6a4
|
UTSW |
9 |
105,945,271 (GRCm39) |
missense |
probably benign |
0.30 |
R9576:Col6a4
|
UTSW |
9 |
105,945,271 (GRCm39) |
missense |
probably benign |
0.30 |
RF022:Col6a4
|
UTSW |
9 |
105,954,207 (GRCm39) |
missense |
probably damaging |
0.99 |
X0025:Col6a4
|
UTSW |
9 |
105,877,654 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Col6a4
|
UTSW |
9 |
105,878,069 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Col6a4
|
UTSW |
9 |
105,877,996 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGAATTCACTGGGTTGCAAACAG -3'
(R):5'- TTGACAACATCCAACAGGTGGGAG -3'
Sequencing Primer
(F):5'- acagaggaaaaggaaaaacaaaaag -3'
(R):5'- TTGCCCGATACCTCATTGTC -3'
|
Posted On |
2013-05-23 |