Incidental Mutation 'R1386:Col6a4'
ID |
160604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col6a4
|
Ensembl Gene |
ENSMUSG00000032572 |
Gene Name |
collagen, type VI, alpha 4 |
Synonyms |
Vwa6, EG235580, 1110001D15Rik, Dvwa |
MMRRC Submission |
039448-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1386 (G1)
|
Quality Score |
188 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
105866653-105973982 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105940144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1262
(V1262E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121963]
|
AlphaFold |
A2AX52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121963
AA Change: V1262E
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000112472 Gene: ENSMUSG00000032572 AA Change: V1262E
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 |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 87.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 103 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,135,081 (GRCm39) |
I235V |
probably benign |
Het |
Acsm4 |
T |
C |
7: 119,297,801 (GRCm39) |
I146T |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,676,984 (GRCm39) |
N1949S |
probably benign |
Het |
Afdn |
T |
C |
17: 14,066,798 (GRCm39) |
V630A |
probably damaging |
Het |
Amfr |
A |
G |
8: 94,712,027 (GRCm39) |
V301A |
possibly damaging |
Het |
Anapc16 |
T |
C |
10: 59,832,279 (GRCm39) |
M45V |
probably benign |
Het |
Ankrd12 |
T |
C |
17: 66,290,375 (GRCm39) |
E1686G |
possibly damaging |
Het |
Ap2m1 |
T |
G |
16: 20,359,979 (GRCm39) |
H193Q |
probably damaging |
Het |
Aplnr |
T |
C |
2: 84,967,805 (GRCm39) |
W277R |
possibly damaging |
Het |
Aspm |
C |
T |
1: 139,406,710 (GRCm39) |
H1866Y |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,385,361 (GRCm39) |
E335G |
probably benign |
Het |
Atp8b4 |
T |
A |
2: 126,220,664 (GRCm39) |
D578V |
probably benign |
Het |
Ccr1 |
T |
A |
9: 123,763,999 (GRCm39) |
E177V |
probably benign |
Het |
Cecr2 |
A |
G |
6: 120,739,092 (GRCm39) |
E1245G |
probably damaging |
Het |
Cep162 |
A |
T |
9: 87,103,255 (GRCm39) |
C638S |
probably benign |
Het |
Ces1b |
A |
T |
8: 93,794,705 (GRCm39) |
I298N |
probably benign |
Het |
Cfap47 |
C |
T |
X: 78,553,507 (GRCm39) |
V323I |
possibly damaging |
Het |
Chdh |
T |
A |
14: 29,753,391 (GRCm39) |
L100Q |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,120,312 (GRCm39) |
I156T |
probably damaging |
Het |
Clpx |
G |
A |
9: 65,234,170 (GRCm39) |
R605Q |
probably null |
Het |
Cnga1 |
T |
A |
5: 72,769,526 (GRCm39) |
K135* |
probably null |
Het |
Cracr2b |
T |
C |
7: 141,043,481 (GRCm39) |
L53P |
probably damaging |
Het |
Crhr1 |
T |
C |
11: 104,065,220 (GRCm39) |
S372P |
possibly damaging |
Het |
Cyp11b2 |
T |
A |
15: 74,723,624 (GRCm39) |
|
probably null |
Het |
Cyp21a1 |
T |
A |
17: 35,021,184 (GRCm39) |
D373V |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ddah1 |
A |
T |
3: 145,594,966 (GRCm39) |
Y242F |
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,088,719 (GRCm39) |
D105G |
possibly damaging |
Het |
Dtl |
A |
G |
1: 191,301,829 (GRCm39) |
V76A |
probably damaging |
Het |
Dzank1 |
A |
G |
2: 144,333,751 (GRCm39) |
S361P |
probably benign |
Het |
Ehd3 |
T |
A |
17: 74,127,538 (GRCm39) |
I157N |
probably damaging |
Het |
Elk4 |
T |
C |
1: 131,945,568 (GRCm39) |
F149L |
probably damaging |
Het |
Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
Fam83a |
A |
G |
15: 57,849,899 (GRCm39) |
R148G |
probably damaging |
Het |
Farp2 |
C |
A |
1: 93,547,873 (GRCm39) |
|
probably null |
Het |
Fbxw25 |
T |
A |
9: 109,483,709 (GRCm39) |
I168F |
possibly damaging |
Het |
Fermt1 |
T |
C |
2: 132,757,978 (GRCm39) |
D479G |
probably damaging |
Het |
Fgf17 |
C |
A |
14: 70,874,210 (GRCm39) |
R193L |
probably damaging |
Het |
Foxred2 |
T |
G |
15: 77,832,721 (GRCm39) |
|
probably null |
Het |
Gad1 |
T |
C |
2: 70,404,467 (GRCm39) |
V119A |
possibly damaging |
Het |
Gas2l3 |
A |
G |
10: 89,250,215 (GRCm39) |
V301A |
possibly damaging |
Het |
Gimap8 |
G |
A |
6: 48,633,587 (GRCm39) |
V469I |
probably benign |
Het |
Gja1 |
A |
T |
10: 56,264,065 (GRCm39) |
E141D |
probably benign |
Het |
Glod4 |
C |
T |
11: 76,112,829 (GRCm39) |
W268* |
probably null |
Het |
Guf1 |
C |
T |
5: 69,720,505 (GRCm39) |
H309Y |
probably benign |
Het |
Hax1 |
A |
G |
3: 89,903,156 (GRCm39) |
V215A |
probably damaging |
Het |
Heatr9 |
T |
C |
11: 83,409,651 (GRCm39) |
D107G |
probably benign |
Het |
Hephl1 |
T |
A |
9: 14,988,050 (GRCm39) |
Y686F |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,154,843 (GRCm39) |
|
probably null |
Het |
Ikbkb |
G |
T |
8: 23,155,633 (GRCm39) |
Q620K |
possibly damaging |
Het |
Il18rap |
C |
T |
1: 40,570,682 (GRCm39) |
A208V |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,209 (GRCm39) |
S1102P |
probably benign |
Het |
Kif5b |
A |
T |
18: 6,226,383 (GRCm39) |
D147E |
probably damaging |
Het |
Klhl3 |
T |
C |
13: 58,178,247 (GRCm39) |
T348A |
probably damaging |
Het |
Krt10 |
T |
C |
11: 99,276,746 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,610,427 (GRCm39) |
H1124L |
probably benign |
Het |
Lin7a |
A |
T |
10: 107,247,983 (GRCm39) |
Q96L |
unknown |
Het |
Ly6c2 |
T |
G |
15: 74,982,438 (GRCm39) |
I37L |
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,895,589 (GRCm39) |
Y585C |
possibly damaging |
Het |
Msr1 |
G |
A |
8: 40,042,334 (GRCm39) |
Q414* |
probably null |
Het |
Myh13 |
T |
C |
11: 67,261,776 (GRCm39) |
C1900R |
possibly damaging |
Het |
Obscn |
T |
A |
11: 59,024,679 (GRCm39) |
N454Y |
probably damaging |
Het |
Olfml2b |
T |
G |
1: 170,508,731 (GRCm39) |
Y530D |
probably damaging |
Het |
Or1ad1 |
T |
C |
11: 50,876,194 (GRCm39) |
F222S |
probably damaging |
Het |
Or4c11 |
T |
A |
2: 88,695,697 (GRCm39) |
F249L |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,574 (GRCm39) |
H90L |
probably benign |
Het |
Or5b24 |
A |
T |
19: 12,912,503 (GRCm39) |
T134S |
probably benign |
Het |
Or7e174 |
T |
A |
9: 20,012,878 (GRCm39) |
N274K |
probably benign |
Het |
Or8j3b |
A |
G |
2: 86,205,265 (GRCm39) |
F164L |
probably damaging |
Het |
Pde10a |
T |
G |
17: 9,172,574 (GRCm39) |
V648G |
probably damaging |
Het |
Pde7b |
T |
A |
10: 20,294,547 (GRCm39) |
H258L |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,946,080 (GRCm39) |
V582A |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,930,091 (GRCm39) |
S316P |
probably benign |
Het |
Pmpca |
C |
T |
2: 26,282,530 (GRCm39) |
T246I |
probably damaging |
Het |
Reep3 |
A |
T |
10: 66,898,788 (GRCm39) |
V32D |
possibly damaging |
Het |
Rfx4 |
A |
G |
10: 84,699,149 (GRCm39) |
M252V |
probably damaging |
Het |
Rnf168 |
C |
A |
16: 32,117,781 (GRCm39) |
D447E |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,834,221 (GRCm39) |
V518A |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,407,433 (GRCm39) |
L340* |
probably null |
Het |
Scn2a |
A |
G |
2: 65,519,085 (GRCm39) |
E437G |
probably damaging |
Het |
Scnn1b |
C |
A |
7: 121,501,711 (GRCm39) |
N175K |
possibly damaging |
Het |
Slc39a11 |
T |
A |
11: 113,138,550 (GRCm39) |
I344F |
probably benign |
Het |
Slc9a2 |
T |
A |
1: 40,758,178 (GRCm39) |
L239Q |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,262,978 (GRCm39) |
F794L |
probably damaging |
Het |
Smim13 |
C |
T |
13: 41,426,168 (GRCm39) |
S68L |
possibly damaging |
Het |
Sos2 |
A |
T |
12: 69,661,432 (GRCm39) |
Y680N |
probably damaging |
Het |
Spag6 |
T |
A |
2: 18,739,057 (GRCm39) |
M329K |
possibly damaging |
Het |
Spire2 |
G |
A |
8: 124,088,105 (GRCm39) |
|
probably null |
Het |
Tdrd9 |
T |
A |
12: 112,011,238 (GRCm39) |
V1149D |
probably benign |
Het |
Tns3 |
T |
A |
11: 8,468,261 (GRCm39) |
Y321F |
probably benign |
Het |
Top3b |
T |
C |
16: 16,698,493 (GRCm39) |
V112A |
probably benign |
Het |
Trafd1 |
G |
A |
5: 121,517,715 (GRCm39) |
T26I |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,564,615 (GRCm39) |
L20S |
unknown |
Het |
Vmn2r82 |
A |
T |
10: 79,214,545 (GRCm39) |
D176V |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,923,458 (GRCm39) |
F3778L |
probably damaging |
Het |
Vwa3b |
T |
C |
1: 37,090,962 (GRCm39) |
|
probably null |
Het |
Vwc2 |
C |
T |
11: 11,104,262 (GRCm39) |
P265S |
probably damaging |
Het |
Zbtb9 |
T |
A |
17: 27,193,612 (GRCm39) |
I339N |
probably damaging |
Het |
Zfp335 |
T |
C |
2: 164,740,161 (GRCm39) |
T764A |
probably benign |
Het |
Zfp366 |
T |
A |
13: 99,383,063 (GRCm39) |
V742D |
probably damaging |
Het |
Zfp709 |
A |
T |
8: 72,644,506 (GRCm39) |
Y645F |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,150,548 (GRCm39) |
C424S |
probably damaging |
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 |
R0433:Col6a4
|
UTSW |
9 |
105,945,193 (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 |
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'- AGACAGGTGAATGGCAGTCTCTCC -3'
(R):5'- AGAATAGATGCCGTAGCTCCCACTC -3'
Sequencing Primer
(F):5'- TCTCTCCCAGGGACTGC -3'
(R):5'- ttttactatgtaacaaataacccccc -3'
|
Posted On |
2014-03-14 |