Incidental Mutation 'R5503:Col18a1'
| ID |
430746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col18a1
|
| Ensembl Gene |
ENSMUSG00000001435 |
| Gene Name |
collagen, type XVIII, alpha 1 |
| Synonyms |
endostatin |
| MMRRC Submission |
043064-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5503 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77052178-77166548 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77071620 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 861
(G861D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072755]
[ENSMUST00000081654]
[ENSMUST00000105409]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072755
AA Change: G1108D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: G1108D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF959
|
16 |
218 |
6.8e-104 |
PFAM |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
FRI
|
369 |
484 |
4.03e-47 |
SMART |
|
TSPN
|
492 |
680 |
4.25e-72 |
SMART |
|
LamG
|
541 |
679 |
2.17e-2 |
SMART |
|
low complexity region
|
699 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
820 |
881 |
5.5e-11 |
PFAM |
|
low complexity region
|
921 |
942 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
951 |
1008 |
6.1e-10 |
PFAM |
|
Pfam:Collagen
|
988 |
1053 |
1.4e-8 |
PFAM |
|
Pfam:Collagen
|
1060 |
1117 |
7.3e-10 |
PFAM |
|
low complexity region
|
1132 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1181 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1202 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1207 |
1267 |
8.2e-10 |
PFAM |
|
low complexity region
|
1275 |
1288 |
N/A |
INTRINSIC |
|
low complexity region
|
1301 |
1319 |
N/A |
INTRINSIC |
|
low complexity region
|
1358 |
1393 |
N/A |
INTRINSIC |
|
low complexity region
|
1397 |
1414 |
N/A |
INTRINSIC |
|
low complexity region
|
1417 |
1433 |
N/A |
INTRINSIC |
|
low complexity region
|
1441 |
1454 |
N/A |
INTRINSIC |
|
Pfam:Endostatin
|
1461 |
1769 |
4.4e-116 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081654
AA Change: G649D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435
AA Change: G649D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
TSPN
|
33 |
221 |
4.25e-72 |
SMART |
|
LamG
|
82 |
220 |
2.17e-2 |
SMART |
|
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
359 |
422 |
1.6e-10 |
PFAM |
|
low complexity region
|
462 |
483 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
492 |
549 |
1.6e-9 |
PFAM |
|
Pfam:Collagen
|
529 |
594 |
3.3e-8 |
PFAM |
|
Pfam:Collagen
|
601 |
658 |
1.9e-9 |
PFAM |
|
Pfam:Collagen
|
631 |
689 |
4e-8 |
PFAM |
|
Pfam:Collagen
|
701 |
752 |
1.7e-7 |
PFAM |
|
Pfam:Collagen
|
748 |
808 |
2.2e-9 |
PFAM |
|
low complexity region
|
816 |
829 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
974 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
995 |
N/A |
INTRINSIC |
|
Pfam:Endostatin
|
999 |
1315 |
8.2e-151 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105409
AA Change: G861D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435
AA Change: G861D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF959
|
16 |
219 |
3.6e-100 |
PFAM |
|
TSPN
|
245 |
433 |
4.25e-72 |
SMART |
|
LamG
|
294 |
432 |
2.17e-2 |
SMART |
|
low complexity region
|
452 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
695 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
700 |
761 |
5.4e-9 |
PFAM |
|
Pfam:Collagen
|
741 |
806 |
4e-8 |
PFAM |
|
Pfam:Collagen
|
813 |
874 |
2.1e-10 |
PFAM |
|
Pfam:Collagen
|
846 |
901 |
1.2e-7 |
PFAM |
|
Pfam:Collagen
|
913 |
964 |
2.1e-7 |
PFAM |
|
Pfam:Collagen
|
960 |
1020 |
2.6e-9 |
PFAM |
|
low complexity region
|
1028 |
1041 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1072 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1150 |
1167 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1186 |
N/A |
INTRINSIC |
|
low complexity region
|
1194 |
1207 |
N/A |
INTRINSIC |
|
Pfam:Endostatin
|
1211 |
1527 |
1.1e-150 |
PFAM |
|
| Meta Mutation Damage Score |
0.9603 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.5%
|
| Validation Efficiency |
96% (103/107) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,164,546 (GRCm38) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,164,547 (GRCm38) |
E685V |
possibly damaging |
Het |
| Abca6 |
A |
G |
11: 110,218,257 (GRCm38) |
S696P |
probably damaging |
Het |
| Abca9 |
G |
A |
11: 110,141,610 (GRCm38) |
T727M |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,306,241 (GRCm38) |
R1161G |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,556,060 (GRCm38) |
D487G |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,630,186 (GRCm38) |
A1409V |
probably damaging |
Het |
| B020004J07Rik |
A |
T |
4: 101,835,802 (GRCm38) |
Y334N |
probably benign |
Het |
| B4galt6 |
C |
A |
18: 20,745,352 (GRCm38) |
|
probably null |
Het |
| Cacna1s |
G |
A |
1: 136,086,742 (GRCm38) |
G382D |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 60,978,000 (GRCm38) |
D87G |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,436,534 (GRCm38) |
Y492C |
probably damaging |
Het |
| Col4a3bp |
C |
T |
13: 96,543,239 (GRCm38) |
R26C |
possibly damaging |
Het |
| Crybg1 |
C |
A |
10: 43,998,766 (GRCm38) |
S782I |
probably benign |
Het |
| Csgalnact1 |
G |
A |
8: 68,461,473 (GRCm38) |
L27F |
probably damaging |
Het |
| Dab1 |
T |
A |
4: 104,512,264 (GRCm38) |
C3S |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,725,312 (GRCm38) |
F343L |
probably benign |
Het |
| Dgat1 |
A |
T |
15: 76,502,194 (GRCm38) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,880,451 (GRCm38) |
|
probably null |
Het |
| Dsg2 |
T |
A |
18: 20,580,651 (GRCm38) |
Y226* |
probably null |
Het |
| Epg5 |
T |
A |
18: 77,951,207 (GRCm38) |
M351K |
possibly damaging |
Het |
| F13b |
A |
G |
1: 139,522,543 (GRCm38) |
T648A |
probably benign |
Het |
| Fgf17 |
T |
C |
14: 70,636,968 (GRCm38) |
Y127C |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,327,887 (GRCm38) |
P435S |
probably benign |
Het |
| Gfm1 |
G |
A |
3: 67,453,727 (GRCm38) |
|
probably null |
Het |
| Gigyf1 |
T |
C |
5: 137,523,467 (GRCm38) |
|
probably benign |
Het |
| Gm12830 |
A |
T |
4: 114,821,739 (GRCm38) |
T6S |
unknown |
Het |
| Gm6465 |
A |
T |
5: 11,848,183 (GRCm38) |
N88I |
probably damaging |
Het |
| Gpr18 |
C |
T |
14: 121,911,747 (GRCm38) |
V289I |
probably damaging |
Het |
| Ipp |
G |
T |
4: 116,537,938 (GRCm38) |
E557* |
probably null |
Het |
| Klhl12 |
T |
A |
1: 134,485,915 (GRCm38) |
|
probably null |
Het |
| Klhl38 |
A |
G |
15: 58,322,349 (GRCm38) |
V328A |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,931,889 (GRCm38) |
T1470A |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,819,876 (GRCm38) |
D2173E |
possibly damaging |
Het |
| Lipi |
T |
C |
16: 75,573,976 (GRCm38) |
K118E |
probably benign |
Het |
| Marf1 |
A |
C |
16: 14,152,231 (GRCm38) |
L208R |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,826,718 (GRCm38) |
R323K |
probably damaging |
Het |
| Mlxip |
T |
A |
5: 123,395,327 (GRCm38) |
M133K |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 123,032,645 (GRCm38) |
M501K |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,173,449 (GRCm38) |
I77V |
probably benign |
Het |
| Napa |
C |
A |
7: 16,115,624 (GRCm38) |
Q254K |
probably benign |
Het |
| Nckap5l |
C |
A |
15: 99,425,622 (GRCm38) |
G1000V |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,985,650 (GRCm38) |
S236R |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,906,368 (GRCm38) |
Y594N |
probably damaging |
Het |
| Nmral1 |
G |
A |
16: 4,715,629 (GRCm38) |
P94L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,147,055 (GRCm38) |
I1024N |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,245,939 (GRCm38) |
I451K |
probably damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,433,057 (GRCm38) |
D143G |
probably benign |
Het |
| Olfr1415 |
C |
A |
1: 92,491,196 (GRCm38) |
K186N |
probably benign |
Het |
| Olfr27 |
A |
G |
9: 39,144,484 (GRCm38) |
N128S |
probably benign |
Het |
| Olfr316 |
T |
A |
11: 58,758,328 (GRCm38) |
V221E |
probably damaging |
Het |
| Olfr45 |
A |
C |
7: 140,691,396 (GRCm38) |
M164L |
probably benign |
Het |
| Olfr77 |
A |
G |
9: 19,920,379 (GRCm38) |
T57A |
probably benign |
Het |
| Olfr912 |
T |
C |
9: 38,582,072 (GRCm38) |
V265A |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,305,446 (GRCm38) |
|
probably null |
Het |
| Phb2 |
T |
A |
6: 124,713,022 (GRCm38) |
|
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,509,929 (GRCm38) |
I108V |
probably benign |
Het |
| Plpp6 |
T |
A |
19: 28,964,746 (GRCm38) |
M249K |
probably damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,138,156 (GRCm38) |
G189E |
probably damaging |
Het |
| Ptprn |
C |
T |
1: 75,251,875 (GRCm38) |
V853M |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,688,328 (GRCm38) |
|
probably null |
Het |
| Rai1 |
G |
A |
11: 60,186,453 (GRCm38) |
V448I |
probably benign |
Het |
| Rbm20 |
T |
A |
19: 53,851,354 (GRCm38) |
C925S |
possibly damaging |
Het |
| Rin3 |
C |
A |
12: 102,313,055 (GRCm38) |
P41Q |
probably benign |
Het |
| Rpl31-ps21 |
T |
C |
5: 21,119,507 (GRCm38) |
|
noncoding transcript |
Het |
| Rpl39-ps |
A |
T |
15: 102,635,126 (GRCm38) |
|
noncoding transcript |
Het |
| Rtn4ip1 |
T |
A |
10: 43,907,883 (GRCm38) |
D133E |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 29,069,028 (GRCm38) |
K2839E |
possibly damaging |
Het |
| Sept5 |
T |
C |
16: 18,623,368 (GRCm38) |
K268R |
probably benign |
Het |
| Serpinb6b |
T |
A |
13: 32,977,659 (GRCm38) |
D238E |
possibly damaging |
Het |
| Slc15a2 |
C |
T |
16: 36,762,385 (GRCm38) |
V214M |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,623,936 (GRCm38) |
M18T |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,682,046 (GRCm38) |
T912K |
possibly damaging |
Het |
| Smdt1 |
A |
T |
15: 82,347,900 (GRCm38) |
R46S |
possibly damaging |
Het |
| Spa17 |
A |
C |
9: 37,611,977 (GRCm38) |
F5V |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,027,244 (GRCm38) |
E614G |
possibly damaging |
Het |
| Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,395,551 (GRCm38) |
|
probably benign |
Het |
| Tlr1 |
A |
T |
5: 64,926,292 (GRCm38) |
V314D |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 20,836,900 (GRCm38) |
L1011Q |
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,760,947 (GRCm38) |
*691Q |
probably null |
Het |
| Vav1 |
A |
T |
17: 57,303,079 (GRCm38) |
K420* |
probably null |
Het |
| Vmn1r174 |
C |
G |
7: 23,754,137 (GRCm38) |
T76R |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,386,804 (GRCm38) |
E230G |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,452,166 (GRCm38) |
T637A |
probably damaging |
Het |
| Zbtb7a |
A |
G |
10: 81,144,797 (GRCm38) |
E275G |
probably damaging |
Het |
| Zfp280b |
A |
G |
10: 76,039,462 (GRCm38) |
|
probably null |
Het |
| Zfp763 |
A |
G |
17: 33,019,533 (GRCm38) |
Y213H |
possibly damaging |
Het |
| Zfp78 |
T |
A |
7: 6,378,529 (GRCm38) |
W161R |
probably benign |
Het |
|
| Other mutations in Col18a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Col18a1
|
APN |
10 |
77,069,979 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01023:Col18a1
|
APN |
10 |
77,070,975 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01304:Col18a1
|
APN |
10 |
77,076,141 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01519:Col18a1
|
APN |
10 |
77,059,323 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02217:Col18a1
|
APN |
10 |
77,053,298 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02275:Col18a1
|
APN |
10 |
77,059,383 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02283:Col18a1
|
APN |
10 |
77,113,109 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL02492:Col18a1
|
APN |
10 |
77,072,021 (GRCm38) |
splice site |
probably benign |
|
|
IGL02673:Col18a1
|
APN |
10 |
77,059,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02710:Col18a1
|
APN |
10 |
77,113,312 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02850:Col18a1
|
APN |
10 |
77,096,466 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03085:Col18a1
|
APN |
10 |
77,059,181 (GRCm38) |
splice site |
probably benign |
|
|
IGL03102:Col18a1
|
APN |
10 |
77,067,623 (GRCm38) |
splice site |
probably benign |
|
|
IGL03139:Col18a1
|
APN |
10 |
77,113,343 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03181:Col18a1
|
APN |
10 |
77,055,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03183:Col18a1
|
APN |
10 |
77,073,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0039:Col18a1
|
UTSW |
10 |
77,077,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0180:Col18a1
|
UTSW |
10 |
77,096,517 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0225:Col18a1
|
UTSW |
10 |
77,088,914 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0335:Col18a1
|
UTSW |
10 |
77,059,363 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0336:Col18a1
|
UTSW |
10 |
77,058,736 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1471:Col18a1
|
UTSW |
10 |
77,096,206 (GRCm38) |
missense |
unknown |
|
|
R1538:Col18a1
|
UTSW |
10 |
77,071,336 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1594:Col18a1
|
UTSW |
10 |
77,113,036 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1631:Col18a1
|
UTSW |
10 |
77,059,297 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1774:Col18a1
|
UTSW |
10 |
77,059,981 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1934:Col18a1
|
UTSW |
10 |
77,112,744 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1990:Col18a1
|
UTSW |
10 |
77,081,154 (GRCm38) |
missense |
unknown |
|
|
R1991:Col18a1
|
UTSW |
10 |
77,081,154 (GRCm38) |
missense |
unknown |
|
|
R1992:Col18a1
|
UTSW |
10 |
77,081,154 (GRCm38) |
missense |
unknown |
|
|
R2081:Col18a1
|
UTSW |
10 |
77,054,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2082:Col18a1
|
UTSW |
10 |
77,059,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2351:Col18a1
|
UTSW |
10 |
77,112,704 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2510:Col18a1
|
UTSW |
10 |
77,096,268 (GRCm38) |
missense |
unknown |
|
|
R3076:Col18a1
|
UTSW |
10 |
77,088,928 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R3433:Col18a1
|
UTSW |
10 |
77,096,268 (GRCm38) |
missense |
unknown |
|
|
R3800:Col18a1
|
UTSW |
10 |
77,067,387 (GRCm38) |
nonsense |
probably null |
|
|
R3918:Col18a1
|
UTSW |
10 |
77,053,358 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3981:Col18a1
|
UTSW |
10 |
77,088,887 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3983:Col18a1
|
UTSW |
10 |
77,088,887 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4182:Col18a1
|
UTSW |
10 |
77,058,841 (GRCm38) |
splice site |
probably null |
|
|
R4239:Col18a1
|
UTSW |
10 |
77,096,167 (GRCm38) |
missense |
unknown |
|
|
R5014:Col18a1
|
UTSW |
10 |
77,070,960 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5107:Col18a1
|
UTSW |
10 |
77,077,223 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5413:Col18a1
|
UTSW |
10 |
77,069,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5524:Col18a1
|
UTSW |
10 |
77,058,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5772:Col18a1
|
UTSW |
10 |
77,166,343 (GRCm38) |
missense |
unknown |
|
|
R5958:Col18a1
|
UTSW |
10 |
77,096,397 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6280:Col18a1
|
UTSW |
10 |
77,112,489 (GRCm38) |
intron |
probably benign |
|
|
R6309:Col18a1
|
UTSW |
10 |
77,112,742 (GRCm38) |
intron |
probably benign |
|
|
R6603:Col18a1
|
UTSW |
10 |
77,063,977 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6608:Col18a1
|
UTSW |
10 |
77,112,794 (GRCm38) |
intron |
probably benign |
|
|
R6805:Col18a1
|
UTSW |
10 |
77,054,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6890:Col18a1
|
UTSW |
10 |
77,113,484 (GRCm38) |
intron |
probably benign |
|
|
R6938:Col18a1
|
UTSW |
10 |
77,112,499 (GRCm38) |
intron |
probably benign |
|
|
R7002:Col18a1
|
UTSW |
10 |
77,166,343 (GRCm38) |
missense |
unknown |
|
|
R7154:Col18a1
|
UTSW |
10 |
77,072,965 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7204:Col18a1
|
UTSW |
10 |
77,085,276 (GRCm38) |
missense |
unknown |
|
|
R7278:Col18a1
|
UTSW |
10 |
77,096,284 (GRCm38) |
missense |
unknown |
|
|
R7442:Col18a1
|
UTSW |
10 |
77,096,238 (GRCm38) |
missense |
unknown |
|
|
R7453:Col18a1
|
UTSW |
10 |
77,085,210 (GRCm38) |
splice site |
probably null |
|
|
R7597:Col18a1
|
UTSW |
10 |
77,113,303 (GRCm38) |
missense |
unknown |
|
|
R7615:Col18a1
|
UTSW |
10 |
77,067,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7671:Col18a1
|
UTSW |
10 |
77,085,383 (GRCm38) |
missense |
unknown |
|
|
R7696:Col18a1
|
UTSW |
10 |
77,085,272 (GRCm38) |
missense |
unknown |
|
|
R7719:Col18a1
|
UTSW |
10 |
77,078,012 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7772:Col18a1
|
UTSW |
10 |
77,068,386 (GRCm38) |
splice site |
probably null |
|
|
R8077:Col18a1
|
UTSW |
10 |
77,080,851 (GRCm38) |
missense |
unknown |
|
|
R8085:Col18a1
|
UTSW |
10 |
77,088,907 (GRCm38) |
missense |
unknown |
|
|
R8097:Col18a1
|
UTSW |
10 |
77,112,508 (GRCm38) |
missense |
unknown |
|
|
R8117:Col18a1
|
UTSW |
10 |
77,059,974 (GRCm38) |
missense |
probably benign |
0.41 |
|
R8130:Col18a1
|
UTSW |
10 |
77,074,450 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8151:Col18a1
|
UTSW |
10 |
77,112,584 (GRCm38) |
missense |
unknown |
|
|
R8379:Col18a1
|
UTSW |
10 |
77,053,238 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8479:Col18a1
|
UTSW |
10 |
77,081,154 (GRCm38) |
missense |
unknown |
|
|
R8523:Col18a1
|
UTSW |
10 |
77,054,234 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8862:Col18a1
|
UTSW |
10 |
77,113,210 (GRCm38) |
nonsense |
probably null |
|
|
R9109:Col18a1
|
UTSW |
10 |
77,057,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9298:Col18a1
|
UTSW |
10 |
77,057,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9312:Col18a1
|
UTSW |
10 |
77,058,772 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9366:Col18a1
|
UTSW |
10 |
77,096,424 (GRCm38) |
missense |
unknown |
|
|
R9399:Col18a1
|
UTSW |
10 |
77,080,750 (GRCm38) |
missense |
unknown |
|
|
R9559:Col18a1
|
UTSW |
10 |
77,077,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9649:Col18a1
|
UTSW |
10 |
77,080,839 (GRCm38) |
missense |
unknown |
|
|
R9689:Col18a1
|
UTSW |
10 |
77,080,744 (GRCm38) |
nonsense |
probably null |
|
|
R9719:Col18a1
|
UTSW |
10 |
77,113,598 (GRCm38) |
missense |
unknown |
|
|
Z1176:Col18a1
|
UTSW |
10 |
77,112,851 (GRCm38) |
missense |
unknown |
|
|
Z1176:Col18a1
|
UTSW |
10 |
77,055,709 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
Z1177:Col18a1
|
UTSW |
10 |
77,112,838 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCTGGCTTCCAATGCAG -3'
(R):5'- CTAACCAGGGCTTGAACCAG -3'
Sequencing Primer
(F):5'- TCCTAGAGCCTTGGAGACTAG -3'
(R):5'- CCAGAAGAAACCTAGGTGATGGTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation