Incidental Mutation 'R7238:Col6a4'
| ID |
563003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a4
|
| Ensembl Gene |
ENSMUSG00000032572 |
| Gene Name |
collagen, type VI, alpha 4 |
| Synonyms |
Vwa6, EG235580, 1110001D15Rik, Dvwa |
| MMRRC Submission |
045345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105866653-105973982 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105877519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 2153
(V2153M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121963]
|
| AlphaFold |
A2AX52 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121963
AA Change: V2153M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: V2153M
| 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 |
probably benign
Transcript: ENSMUST00000218471
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
97% (104/107) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,775,712 (GRCm39) |
T1634S |
probably damaging |
Het |
| Adgrl1 |
T |
A |
8: 84,665,693 (GRCm39) |
M1460K |
probably damaging |
Het |
| Adig |
T |
A |
2: 158,347,773 (GRCm39) |
L29Q |
unknown |
Het |
| Adnp |
T |
G |
2: 168,025,887 (GRCm39) |
K469N |
probably damaging |
Het |
| Akap3 |
A |
G |
6: 126,842,200 (GRCm39) |
D273G |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,727,519 (GRCm39) |
Y379F |
probably damaging |
Het |
| Ankrd34b |
T |
C |
13: 92,575,139 (GRCm39) |
Y124H |
possibly damaging |
Het |
| Ap2b1 |
T |
G |
11: 83,223,948 (GRCm39) |
F221C |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,469,160 (GRCm39) |
I358V |
possibly damaging |
Het |
| BC051665 |
G |
A |
13: 60,930,536 (GRCm39) |
T272I |
probably benign |
Het |
| Cdan1 |
G |
T |
2: 120,560,783 (GRCm39) |
A262E |
probably benign |
Het |
| Ces1d |
C |
T |
8: 93,904,763 (GRCm39) |
V326I |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,254,873 (GRCm39) |
R156G |
probably benign |
Het |
| Clip1 |
C |
T |
5: 123,751,328 (GRCm39) |
E818K |
|
Het |
| Crlf3 |
T |
C |
11: 79,947,351 (GRCm39) |
N296D |
possibly damaging |
Het |
| Cstdc6 |
C |
T |
16: 36,142,193 (GRCm39) |
G61D |
probably benign |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,594 (GRCm39) |
I109V |
probably benign |
Het |
| Dcaf5 |
G |
T |
12: 80,385,483 (GRCm39) |
T881K |
probably benign |
Het |
| Dennd4a |
C |
A |
9: 64,769,238 (GRCm39) |
T408K |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnah2 |
A |
G |
11: 69,349,972 (GRCm39) |
|
probably null |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,006 (GRCm39) |
K114* |
probably null |
Het |
| Eif2ak2 |
C |
T |
17: 79,173,760 (GRCm39) |
V273I |
probably benign |
Het |
| Elac1 |
C |
T |
18: 73,872,359 (GRCm39) |
G212D |
probably damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,013,798 (GRCm39) |
D623G |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,716,413 (GRCm39) |
F177L |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,944,562 (GRCm39) |
T1152A |
probably benign |
Het |
| Fbxl12 |
G |
T |
9: 20,529,709 (GRCm39) |
|
probably null |
Het |
| Fbxo43 |
T |
C |
15: 36,151,971 (GRCm39) |
Y582C |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,812,484 (GRCm39) |
N2934K |
possibly damaging |
Het |
| Gna12 |
A |
G |
5: 140,815,847 (GRCm39) |
S69P |
probably damaging |
Het |
| Gpatch8 |
C |
A |
11: 102,369,354 (GRCm39) |
G1395C |
probably damaging |
Het |
| Gpr137c |
A |
G |
14: 45,516,148 (GRCm39) |
Y294C |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,724,673 (GRCm39) |
S1834P |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,757,249 (GRCm39) |
D404G |
probably damaging |
Het |
| Hectd2 |
A |
T |
19: 36,574,478 (GRCm39) |
N236I |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,713,641 (GRCm39) |
V562I |
probably benign |
Het |
| Hipk2 |
G |
T |
6: 38,692,992 (GRCm39) |
T867N |
probably benign |
Het |
| Hmgcl |
T |
C |
4: 135,689,424 (GRCm39) |
V294A |
possibly damaging |
Het |
| Hnrnpl |
T |
A |
7: 28,513,400 (GRCm39) |
F158I |
|
Het |
| Hspa5 |
T |
C |
2: 34,662,383 (GRCm39) |
V17A |
unknown |
Het |
| Hspg2 |
T |
C |
4: 137,235,704 (GRCm39) |
V168A |
probably damaging |
Het |
| Idh1 |
A |
G |
1: 65,205,284 (GRCm39) |
F227S |
probably damaging |
Het |
| Iigp1c |
A |
G |
18: 60,379,355 (GRCm39) |
S297G |
possibly damaging |
Het |
| Immp2l |
T |
C |
12: 41,160,915 (GRCm39) |
V71A |
possibly damaging |
Het |
| Iqce |
G |
A |
5: 140,675,713 (GRCm39) |
R193* |
probably null |
Het |
| Kcnq5 |
T |
C |
1: 21,472,526 (GRCm39) |
D907G |
probably benign |
Het |
| Krt17 |
T |
A |
11: 100,148,613 (GRCm39) |
T306S |
probably benign |
Het |
| Lhx3 |
T |
C |
2: 26,093,009 (GRCm39) |
D149G |
probably damaging |
Het |
| Lrrc73 |
G |
A |
17: 46,565,488 (GRCm39) |
R73H |
probably damaging |
Het |
| Mgat5b |
T |
C |
11: 116,875,809 (GRCm39) |
S678P |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,502,305 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
G |
15: 73,663,278 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,363,254 (GRCm39) |
H2188Q |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
| Musk |
G |
A |
4: 58,344,312 (GRCm39) |
G305D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,249,496 (GRCm39) |
I347T |
unknown |
Het |
| Mybbp1a |
G |
T |
11: 72,334,338 (GRCm39) |
V198F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,733 (GRCm39) |
S2943P |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,733,059 (GRCm39) |
R1363K |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,689,185 (GRCm39) |
D364V |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,955,799 (GRCm39) |
H174R |
probably damaging |
Het |
| Or14j6 |
T |
C |
17: 38,215,328 (GRCm39) |
L297S |
probably benign |
Het |
| Or1e26 |
A |
T |
11: 73,480,561 (GRCm39) |
M1K |
probably null |
Het |
| Or1j13 |
T |
A |
2: 36,369,726 (GRCm39) |
N139Y |
possibly damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,252 (GRCm39) |
E110D |
probably damaging |
Het |
| Pecr |
T |
C |
1: 72,298,592 (GRCm39) |
D276G |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp1cb |
A |
T |
5: 32,648,376 (GRCm39) |
T320S |
probably benign |
Het |
| Ppp1r9a |
G |
T |
6: 5,159,716 (GRCm39) |
K1084N |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,862,391 (GRCm39) |
S300P |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,602,090 (GRCm39) |
V389I |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,266,127 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
A |
G |
6: 124,698,821 (GRCm39) |
S498P |
possibly damaging |
Het |
| Pus3 |
A |
G |
9: 35,477,965 (GRCm39) |
H399R |
probably benign |
Het |
| Pus7 |
T |
C |
5: 23,983,450 (GRCm39) |
T6A |
probably benign |
Het |
| Rnf169 |
A |
G |
7: 99,574,954 (GRCm39) |
V547A |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,128 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,794,807 (GRCm39) |
D1194N |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,320,610 (GRCm39) |
M1490V |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,432,258 (GRCm39) |
D756G |
possibly damaging |
Het |
| Selenoo |
T |
A |
15: 88,973,427 (GRCm39) |
M39K |
probably benign |
Het |
| Septin8 |
T |
G |
11: 53,427,519 (GRCm39) |
V246G |
possibly damaging |
Het |
| Serpina3k |
T |
A |
12: 104,309,367 (GRCm39) |
N270K |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,098,091 (GRCm39) |
R710H |
probably damaging |
Het |
| Sirt4 |
A |
T |
5: 115,621,049 (GRCm39) |
I41N |
possibly damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,686,556 (GRCm39) |
Y425* |
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,662,773 (GRCm39) |
E176G |
probably benign |
Het |
| Speer1m |
T |
C |
5: 11,970,712 (GRCm39) |
I127T |
|
Het |
| Spidr |
A |
T |
16: 15,784,680 (GRCm39) |
W463R |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmcc1 |
G |
A |
6: 116,111,198 (GRCm39) |
Q28* |
probably null |
Het |
| Tmem52b |
A |
G |
6: 129,493,651 (GRCm39) |
E88G |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 56,974,710 (GRCm39) |
I402K |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,469,522 (GRCm39) |
Y504H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,542,549 (GRCm39) |
E33479G |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,711,672 (GRCm39) |
R8290C |
unknown |
Het |
| Urb1 |
T |
C |
16: 90,549,003 (GRCm39) |
D2235G |
possibly damaging |
Het |
| Usp10 |
T |
C |
8: 120,668,283 (GRCm39) |
F195L |
probably benign |
Het |
| Vmn1r31 |
A |
T |
6: 58,449,858 (GRCm39) |
F2L |
|
Het |
| Vmn2r109 |
C |
T |
17: 20,761,336 (GRCm39) |
V674M |
probably damaging |
Het |
| Vmn2r12 |
G |
A |
5: 109,245,655 (GRCm39) |
P26S |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,629 (GRCm39) |
M414K |
possibly damaging |
Het |
| Yipf3 |
T |
C |
17: 46,562,585 (GRCm39) |
V330A |
probably benign |
Het |
| Zic4 |
A |
T |
9: 91,261,450 (GRCm39) |
H235L |
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,346,642 (GRCm39) |
W16R |
unknown |
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 |
|
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 |
|
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'- GCACCTAGGATAACCCAGTC -3'
(R):5'- AAGCCCCTGTGCTTGAGTAC -3'
Sequencing Primer
(F):5'- TAGGATAACCCAGTCCCTACC -3'
(R):5'- CTGGAAAACGTGCTTCTGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation