Incidental Mutation 'R1768:Col6a4'
| ID |
194599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a4
|
| Ensembl Gene |
ENSMUSG00000032572 |
| Gene Name |
collagen, type VI, alpha 4 |
| Synonyms |
Vwa6, 1110001D15Rik, EG235580, Dvwa |
| MMRRC Submission |
039799-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1768 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105989454-106096783 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106080100 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 175
(Q175L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121963]
|
| AlphaFold |
A2AX52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121963
AA Change: Q175L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: Q175L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
91% (107/117) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
C |
18: 6,623,470 (GRCm38) |
R60P |
possibly damaging |
Het |
| Aox2 |
T |
A |
1: 58,354,195 (GRCm38) |
C1199S |
probably benign |
Het |
| Arhgap18 |
G |
A |
10: 26,887,861 (GRCm38) |
M482I |
probably damaging |
Het |
| Arhgap18 |
G |
T |
10: 26,887,862 (GRCm38) |
A483S |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,075,338 (GRCm38) |
S509N |
probably benign |
Het |
| BC051019 |
T |
C |
7: 109,723,174 (GRCm38) |
T38A |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,765,618 (GRCm38) |
N192S |
probably null |
Het |
| Bend5 |
A |
T |
4: 111,454,241 (GRCm38) |
K351* |
probably null |
Het |
| Bicdl2 |
T |
A |
17: 23,665,949 (GRCm38) |
M208K |
probably damaging |
Het |
| Ccdc155 |
T |
A |
7: 45,188,803 (GRCm38) |
|
probably null |
Het |
| Ccp110 |
A |
T |
7: 118,726,024 (GRCm38) |
|
probably null |
Het |
| Cdc6 |
A |
T |
11: 98,912,217 (GRCm38) |
T328S |
probably damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,307,233 (GRCm38) |
N558K |
probably benign |
Het |
| Cdkn1c |
C |
T |
7: 143,459,121 (GRCm38) |
R146K |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,648,494 (GRCm38) |
C371Y |
probably benign |
Het |
| Cep95 |
T |
A |
11: 106,806,351 (GRCm38) |
C233* |
probably null |
Het |
| Chrnd |
A |
G |
1: 87,194,928 (GRCm38) |
I144V |
probably benign |
Het |
| Cym |
A |
T |
3: 107,213,500 (GRCm38) |
V263E |
probably damaging |
Het |
| Cyp2a4 |
G |
T |
7: 26,312,772 (GRCm38) |
V327F |
possibly damaging |
Het |
| Dhx29 |
T |
A |
13: 112,948,240 (GRCm38) |
M664K |
probably damaging |
Het |
| Dlec1 |
T |
G |
9: 119,146,007 (GRCm38) |
|
probably null |
Het |
| Dna2 |
T |
C |
10: 62,957,084 (GRCm38) |
Y293H |
probably benign |
Het |
| Dnase1l3 |
T |
A |
14: 7,974,104 (GRCm38) |
N196Y |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,996,960 (GRCm38) |
D222E |
probably damaging |
Het |
| Efcab14 |
A |
T |
4: 115,752,919 (GRCm38) |
|
probably null |
Het |
| Entpd5 |
C |
T |
12: 84,386,211 (GRCm38) |
R189H |
probably benign |
Het |
| Exoc4 |
A |
T |
6: 33,758,050 (GRCm38) |
K534M |
probably damaging |
Het |
| Extl1 |
T |
A |
4: 134,371,138 (GRCm38) |
Y194F |
probably benign |
Het |
| Eya1 |
A |
G |
1: 14,253,075 (GRCm38) |
L161S |
possibly damaging |
Het |
| Fam163b |
T |
C |
2: 27,112,862 (GRCm38) |
E41G |
possibly damaging |
Het |
| Fam180a |
A |
C |
6: 35,315,352 (GRCm38) |
S40A |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,385,950 (GRCm38) |
S186P |
probably benign |
Het |
| Fbxw19 |
A |
T |
9: 109,494,772 (GRCm38) |
L45* |
probably null |
Het |
| Fgf14 |
G |
T |
14: 124,676,512 (GRCm38) |
T69N |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,672,709 (GRCm38) |
Y432H |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,306,764 (GRCm38) |
L374Q |
possibly damaging |
Het |
| G6pc2 |
T |
A |
2: 69,222,977 (GRCm38) |
V125D |
probably damaging |
Het |
| Gna15 |
A |
T |
10: 81,512,120 (GRCm38) |
L164Q |
probably damaging |
Het |
| Gnaz |
C |
A |
10: 74,991,870 (GRCm38) |
D151E |
possibly damaging |
Het |
| Has1 |
T |
C |
17: 17,850,300 (GRCm38) |
T120A |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,358,303 (GRCm38) |
D3919E |
possibly damaging |
Het |
| Hs3st5 |
A |
G |
10: 36,833,169 (GRCm38) |
I233M |
probably benign |
Het |
| Ilf3 |
T |
C |
9: 21,403,142 (GRCm38) |
|
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,793,276 (GRCm38) |
L765* |
probably null |
Het |
| Insr |
A |
T |
8: 3,159,561 (GRCm38) |
I1174N |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 66,005,906 (GRCm38) |
L445P |
probably damaging |
Het |
| Kctd20 |
A |
T |
17: 28,962,850 (GRCm38) |
N159Y |
probably damaging |
Het |
| Kctd20 |
A |
T |
17: 28,966,781 (GRCm38) |
D366V |
probably damaging |
Het |
| Klk15 |
T |
C |
7: 43,938,333 (GRCm38) |
|
probably benign |
Het |
| Lama4 |
T |
G |
10: 39,103,501 (GRCm38) |
N1658K |
possibly damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,813,276 (GRCm38) |
P165S |
probably benign |
Het |
| Mas1 |
T |
C |
17: 12,841,699 (GRCm38) |
Y279C |
probably damaging |
Het |
| Mast2 |
G |
T |
4: 116,306,959 (GRCm38) |
D1747E |
probably damaging |
Het |
| Mest |
G |
A |
6: 30,745,139 (GRCm38) |
M235I |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,660,805 (GRCm38) |
|
probably null |
Het |
| Mllt10 |
T |
A |
2: 18,162,846 (GRCm38) |
S449R |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 123,013,763 (GRCm38) |
T1211S |
probably benign |
Het |
| Mrnip |
G |
A |
11: 50,176,861 (GRCm38) |
C27Y |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 49,163,135 (GRCm38) |
T1538S |
probably benign |
Het |
| Nfatc2ip |
A |
G |
7: 126,390,462 (GRCm38) |
V250A |
probably benign |
Het |
| Npy1r |
A |
G |
8: 66,704,525 (GRCm38) |
D199G |
possibly damaging |
Het |
| Numbl |
A |
G |
7: 27,280,954 (GRCm38) |
T454A |
probably benign |
Het |
| Nutm2 |
T |
G |
13: 50,473,116 (GRCm38) |
F436V |
probably damaging |
Het |
| Olfr1112 |
T |
A |
2: 87,191,698 (GRCm38) |
S4T |
probably benign |
Het |
| Olfr330 |
A |
G |
11: 58,529,776 (GRCm38) |
L70P |
probably damaging |
Het |
| Olfr458 |
A |
G |
6: 42,460,677 (GRCm38) |
L114S |
probably damaging |
Het |
| Olfr556 |
A |
G |
7: 102,670,301 (GRCm38) |
Y127C |
probably damaging |
Het |
| Olfr631 |
C |
T |
7: 103,929,725 (GRCm38) |
R301* |
probably null |
Het |
| Olfr64 |
A |
G |
7: 103,893,277 (GRCm38) |
S153P |
probably benign |
Het |
| Olfr676 |
A |
G |
7: 105,035,950 (GRCm38) |
S251G |
probably benign |
Het |
| Olfr707 |
G |
T |
7: 106,891,978 (GRCm38) |
L44M |
probably damaging |
Het |
| Olfr707 |
A |
T |
7: 106,891,977 (GRCm38) |
|
probably null |
Het |
| Olfr876 |
T |
A |
9: 37,804,303 (GRCm38) |
Y131N |
probably damaging |
Het |
| Opa1 |
T |
C |
16: 29,620,810 (GRCm38) |
S773P |
probably benign |
Het |
| Pde8a |
G |
C |
7: 81,300,723 (GRCm38) |
|
probably null |
Het |
| Pgam1 |
T |
C |
19: 41,917,705 (GRCm38) |
F232S |
probably damaging |
Het |
| Pgk1 |
T |
A |
X: 106,200,308 (GRCm38) |
V303E |
possibly damaging |
Het |
| Pirb |
A |
T |
7: 3,717,190 (GRCm38) |
C395S |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,844,322 (GRCm38) |
V824I |
probably benign |
Het |
| Ppp6r1 |
A |
G |
7: 4,633,692 (GRCm38) |
|
probably null |
Het |
| Rapgef4 |
C |
A |
2: 72,225,787 (GRCm38) |
|
probably benign |
Het |
| Rars |
T |
A |
11: 35,809,638 (GRCm38) |
T539S |
probably damaging |
Het |
| Rbm44 |
G |
T |
1: 91,153,957 (GRCm38) |
|
probably null |
Het |
| RP23-114B10.6 |
T |
C |
8: 69,373,558 (GRCm38) |
I119M |
unknown |
Het |
| Samd4b |
A |
G |
7: 28,413,892 (GRCm38) |
I216T |
probably benign |
Het |
| Serpine2 |
A |
C |
1: 79,816,815 (GRCm38) |
F134V |
probably damaging |
Het |
| Shmt1 |
A |
G |
11: 60,792,964 (GRCm38) |
Y341H |
probably damaging |
Het |
| Slc23a2 |
C |
A |
2: 132,075,641 (GRCm38) |
V226F |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,956,961 (GRCm38) |
I69T |
probably damaging |
Het |
| Slc37a1 |
C |
A |
17: 31,333,678 (GRCm38) |
T319K |
possibly damaging |
Het |
| Slc6a4 |
A |
T |
11: 77,013,252 (GRCm38) |
T178S |
probably damaging |
Het |
| Smarca4 |
G |
A |
9: 21,701,183 (GRCm38) |
A1588T |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 100,027,352 (GRCm38) |
Y650F |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 87,003,008 (GRCm38) |
G65S |
probably damaging |
Het |
| Stambpl1 |
C |
G |
19: 34,226,721 (GRCm38) |
N70K |
probably damaging |
Het |
| Stip1 |
C |
A |
19: 7,021,797 (GRCm38) |
C471F |
probably damaging |
Het |
| Taf1 |
T |
C |
X: 101,540,894 (GRCm38) |
S223P |
probably benign |
Het |
| Tchh |
C |
A |
3: 93,443,575 (GRCm38) |
N107K |
possibly damaging |
Het |
| Tenm3 |
A |
C |
8: 48,232,104 (GRCm38) |
H2432Q |
probably damaging |
Het |
| Tmem243 |
A |
G |
5: 9,118,548 (GRCm38) |
N110S |
probably damaging |
Het |
| Toe1 |
A |
T |
4: 116,804,879 (GRCm38) |
I306F |
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,392,927 (GRCm38) |
V2911M |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 45,308,612 (GRCm38) |
I811T |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,875,116 (GRCm38) |
|
probably null |
Het |
| Ttc28 |
A |
T |
5: 111,277,168 (GRCm38) |
I1589F |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,649,686 (GRCm38) |
|
probably benign |
Het |
| U2af2 |
C |
A |
7: 5,067,545 (GRCm38) |
R78S |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 54,673,654 (GRCm38) |
D388E |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,153,870 (GRCm38) |
S261T |
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,305,067 (GRCm38) |
N245D |
possibly damaging |
Het |
| Zfp692 |
A |
G |
11: 58,310,176 (GRCm38) |
|
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,619,251 (GRCm38) |
H953R |
probably benign |
Het |
|
| Other mutations in Col6a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Col6a4
|
APN |
9 |
106,022,896 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00691:Col6a4
|
APN |
9 |
106,057,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01508:Col6a4
|
APN |
9 |
106,013,605 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01580:Col6a4
|
APN |
9 |
106,068,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01610:Col6a4
|
APN |
9 |
106,047,707 (GRCm38) |
splice site |
probably benign |
|
|
IGL01813:Col6a4
|
APN |
9 |
106,077,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01933:Col6a4
|
APN |
9 |
106,060,114 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01973:Col6a4
|
APN |
9 |
106,062,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02053:Col6a4
|
APN |
9 |
106,063,095 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02063:Col6a4
|
APN |
9 |
106,057,418 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02065:Col6a4
|
APN |
9 |
106,077,103 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02106:Col6a4
|
APN |
9 |
106,063,105 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02220:Col6a4
|
APN |
9 |
106,062,942 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02228:Col6a4
|
APN |
9 |
106,068,078 (GRCm38) |
missense |
probably benign |
|
|
IGL02234:Col6a4
|
APN |
9 |
106,013,432 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02294:Col6a4
|
APN |
9 |
106,066,732 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02314:Col6a4
|
APN |
9 |
105,997,156 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03065:Col6a4
|
APN |
9 |
106,041,164 (GRCm38) |
splice site |
probably benign |
|
|
IGL03086:Col6a4
|
APN |
9 |
106,082,862 (GRCm38) |
splice site |
probably benign |
|
|
IGL03185:Col6a4
|
APN |
9 |
106,019,454 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0092:Col6a4
|
UTSW |
9 |
106,013,314 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0095:Col6a4
|
UTSW |
9 |
106,075,356 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0230:Col6a4
|
UTSW |
9 |
106,072,366 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0359:Col6a4
|
UTSW |
9 |
105,997,146 (GRCm38) |
missense |
probably benign |
|
|
R0415:Col6a4
|
UTSW |
9 |
106,075,080 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0433:Col6a4
|
UTSW |
9 |
106,067,994 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0450:Col6a4
|
UTSW |
9 |
106,080,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0469:Col6a4
|
UTSW |
9 |
106,080,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0490:Col6a4
|
UTSW |
9 |
106,013,770 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0621:Col6a4
|
UTSW |
9 |
106,066,791 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0667:Col6a4
|
UTSW |
9 |
106,029,959 (GRCm38) |
splice site |
probably benign |
|
|
R0681:Col6a4
|
UTSW |
9 |
106,067,144 (GRCm38) |
nonsense |
probably null |
|
|
R0690:Col6a4
|
UTSW |
9 |
106,028,187 (GRCm38) |
splice site |
probably benign |
|
|
R0714:Col6a4
|
UTSW |
9 |
106,017,903 (GRCm38) |
unclassified |
probably benign |
|
|
R0788:Col6a4
|
UTSW |
9 |
106,071,998 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1036:Col6a4
|
UTSW |
9 |
106,068,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1296:Col6a4
|
UTSW |
9 |
106,062,853 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1386:Col6a4
|
UTSW |
9 |
106,062,945 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1484:Col6a4
|
UTSW |
9 |
106,013,302 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1528:Col6a4
|
UTSW |
9 |
106,075,220 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1555:Col6a4
|
UTSW |
9 |
106,000,886 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1622:Col6a4
|
UTSW |
9 |
105,997,135 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1653:Col6a4
|
UTSW |
9 |
106,072,409 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1720:Col6a4
|
UTSW |
9 |
106,026,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1941:Col6a4
|
UTSW |
9 |
106,075,010 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2092:Col6a4
|
UTSW |
9 |
106,060,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2134:Col6a4
|
UTSW |
9 |
106,066,661 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2149:Col6a4
|
UTSW |
9 |
106,076,929 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2174:Col6a4
|
UTSW |
9 |
106,060,132 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2204:Col6a4
|
UTSW |
9 |
106,060,132 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2248:Col6a4
|
UTSW |
9 |
106,079,959 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2568:Col6a4
|
UTSW |
9 |
106,063,076 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3750:Col6a4
|
UTSW |
9 |
106,020,665 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3751:Col6a4
|
UTSW |
9 |
106,072,114 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3776:Col6a4
|
UTSW |
9 |
106,051,701 (GRCm38) |
nonsense |
probably null |
|
|
R3872:Col6a4
|
UTSW |
9 |
106,013,659 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4043:Col6a4
|
UTSW |
9 |
106,072,411 (GRCm38) |
nonsense |
probably null |
|
|
R4056:Col6a4
|
UTSW |
9 |
106,026,466 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4212:Col6a4
|
UTSW |
9 |
106,075,370 (GRCm38) |
missense |
probably benign |
0.28 |
|
R4417:Col6a4
|
UTSW |
9 |
106,072,016 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4683:Col6a4
|
UTSW |
9 |
106,080,130 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4719:Col6a4
|
UTSW |
9 |
106,068,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4791:Col6a4
|
UTSW |
9 |
106,080,202 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4833:Col6a4
|
UTSW |
9 |
106,071,979 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4886:Col6a4
|
UTSW |
9 |
106,060,072 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4998:Col6a4
|
UTSW |
9 |
105,990,778 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5091:Col6a4
|
UTSW |
9 |
106,075,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5113:Col6a4
|
UTSW |
9 |
106,066,960 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5129:Col6a4
|
UTSW |
9 |
106,013,377 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5231:Col6a4
|
UTSW |
9 |
106,025,531 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5297:Col6a4
|
UTSW |
9 |
106,074,867 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5352:Col6a4
|
UTSW |
9 |
106,061,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5438:Col6a4
|
UTSW |
9 |
106,013,696 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5518:Col6a4
|
UTSW |
9 |
106,072,188 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5657:Col6a4
|
UTSW |
9 |
106,072,198 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5660:Col6a4
|
UTSW |
9 |
105,996,116 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5662:Col6a4
|
UTSW |
9 |
106,068,001 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5777:Col6a4
|
UTSW |
9 |
106,013,696 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5800:Col6a4
|
UTSW |
9 |
106,080,275 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5929:Col6a4
|
UTSW |
9 |
106,063,044 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5999:Col6a4
|
UTSW |
9 |
106,067,921 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6243:Col6a4
|
UTSW |
9 |
106,013,390 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6285:Col6a4
|
UTSW |
9 |
106,074,986 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6288:Col6a4
|
UTSW |
9 |
106,068,263 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6361:Col6a4
|
UTSW |
9 |
106,066,703 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6485:Col6a4
|
UTSW |
9 |
106,076,870 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6490:Col6a4
|
UTSW |
9 |
106,074,992 (GRCm38) |
nonsense |
probably null |
|
|
R6537:Col6a4
|
UTSW |
9 |
106,067,954 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6598:Col6a4
|
UTSW |
9 |
106,000,412 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6643:Col6a4
|
UTSW |
9 |
106,000,631 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6905:Col6a4
|
UTSW |
9 |
106,060,318 (GRCm38) |
splice site |
probably null |
|
|
R6944:Col6a4
|
UTSW |
9 |
106,072,171 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7015:Col6a4
|
UTSW |
9 |
106,033,755 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7027:Col6a4
|
UTSW |
9 |
106,067,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7088:Col6a4
|
UTSW |
9 |
106,000,686 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7200:Col6a4
|
UTSW |
9 |
106,072,249 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7238:Col6a4
|
UTSW |
9 |
106,000,320 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7273:Col6a4
|
UTSW |
9 |
106,000,457 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7335:Col6a4
|
UTSW |
9 |
106,076,892 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7418:Col6a4
|
UTSW |
9 |
106,022,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7421:Col6a4
|
UTSW |
9 |
106,020,795 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7530:Col6a4
|
UTSW |
9 |
106,068,390 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7600:Col6a4
|
UTSW |
9 |
106,066,999 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7701:Col6a4
|
UTSW |
9 |
106,082,888 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7830:Col6a4
|
UTSW |
9 |
106,075,390 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7881:Col6a4
|
UTSW |
9 |
106,080,298 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8157:Col6a4
|
UTSW |
9 |
106,067,898 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8292:Col6a4
|
UTSW |
9 |
106,076,877 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8309:Col6a4
|
UTSW |
9 |
106,075,215 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8336:Col6a4
|
UTSW |
9 |
106,075,329 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8359:Col6a4
|
UTSW |
9 |
106,068,384 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8530:Col6a4
|
UTSW |
9 |
106,080,505 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8556:Col6a4
|
UTSW |
9 |
106,067,053 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8832:Col6a4
|
UTSW |
9 |
106,072,154 (GRCm38) |
missense |
probably benign |
|
|
R9001:Col6a4
|
UTSW |
9 |
106,067,171 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9009:Col6a4
|
UTSW |
9 |
106,077,205 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9069:Col6a4
|
UTSW |
9 |
106,074,939 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9155:Col6a4
|
UTSW |
9 |
106,075,010 (GRCm38) |
missense |
probably benign |
|
|
R9175:Col6a4
|
UTSW |
9 |
106,080,361 (GRCm38) |
missense |
probably benign |
|
|
R9176:Col6a4
|
UTSW |
9 |
106,061,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9295:Col6a4
|
UTSW |
9 |
106,080,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9298:Col6a4
|
UTSW |
9 |
106,068,335 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9389:Col6a4
|
UTSW |
9 |
106,000,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9424:Col6a4
|
UTSW |
9 |
106,068,072 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9576:Col6a4
|
UTSW |
9 |
106,068,072 (GRCm38) |
missense |
probably benign |
0.30 |
|
RF022:Col6a4
|
UTSW |
9 |
106,077,008 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0025:Col6a4
|
UTSW |
9 |
106,000,455 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Col6a4
|
UTSW |
9 |
106,000,870 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Col6a4
|
UTSW |
9 |
106,000,797 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGAAACCCGTGAATGATAACACC -3'
(R):5'- TTTAAGCCTGGAGGCAACAGGATG -3'
Sequencing Primer
(F):5'- TTCCTTCAAAAACGGGCTTAC -3'
(R):5'- GCAACAGGATGGGCCAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation