Incidental Mutation 'R0001:Col20a1'
| ID |
32223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col20a1
|
| Ensembl Gene |
ENSMUSG00000016356 |
| Gene Name |
collagen, type XX, alpha 1 |
| Synonyms |
1700051I12Rik |
| MMRRC Submission |
038297-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0001 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180628328-180660156 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 180626205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029092]
[ENSMUST00000108856]
[ENSMUST00000108859]
[ENSMUST00000108860]
[ENSMUST00000108861]
[ENSMUST00000108862]
[ENSMUST00000185115]
[ENSMUST00000228434]
[ENSMUST00000149179]
[ENSMUST00000184394]
|
| AlphaFold |
Q923P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029092
|
| SMART Domains |
Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000094214
|
| SMART Domains |
Protein: ENSMUSP00000091767
Gene: ENSMUSG00000070461
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108856
|
| SMART Domains |
Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FN3
|
24 |
103 |
2.18e1 |
SMART |
|
VWA
|
175 |
354 |
4.68e-55 |
SMART |
|
FN3
|
375 |
453 |
6.2e-7 |
SMART |
|
FN3
|
464 |
543 |
7.34e-9 |
SMART |
|
FN3
|
555 |
633 |
8.18e-7 |
SMART |
|
FN3
|
644 |
723 |
8.98e-4 |
SMART |
|
FN3
|
738 |
817 |
1.43e-11 |
SMART |
|
TSPN
|
840 |
1035 |
6.45e-31 |
SMART |
|
Pfam:Collagen
|
1067 |
1125 |
3.8e-9 |
PFAM |
|
Pfam:Collagen
|
1122 |
1174 |
7.4e-9 |
PFAM |
|
Pfam:Collagen
|
1165 |
1223 |
3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108859
|
| SMART Domains |
Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108860
|
| SMART Domains |
Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108861
|
| SMART Domains |
Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108862
|
| SMART Domains |
Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145629
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185115
|
| SMART Domains |
Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149179
|
| SMART Domains |
Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FN3
|
24 |
103 |
2.18e1 |
SMART |
|
VWA
|
175 |
354 |
4.68e-55 |
SMART |
|
FN3
|
375 |
453 |
6.2e-7 |
SMART |
|
FN3
|
464 |
543 |
7.34e-9 |
SMART |
|
FN3
|
555 |
633 |
8.18e-7 |
SMART |
|
FN3
|
644 |
723 |
8.98e-4 |
SMART |
|
FN3
|
738 |
817 |
1.43e-11 |
SMART |
|
TSPN
|
840 |
1035 |
6.45e-31 |
SMART |
|
low complexity region
|
1069 |
1106 |
N/A |
INTRINSIC |
|
low complexity region
|
1108 |
1121 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1155 |
N/A |
INTRINSIC |
|
Blast:TSPN
|
1156 |
1202 |
2e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184394
|
| SMART Domains |
Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
298 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
389 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
99% (76/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,288,534 (GRCm39) |
|
probably benign |
Het |
| A4galt |
A |
G |
15: 83,112,490 (GRCm39) |
F98L |
probably benign |
Het |
| Abca4 |
T |
G |
3: 121,874,660 (GRCm39) |
|
probably benign |
Het |
| Acacb |
C |
T |
5: 114,342,894 (GRCm39) |
|
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,069,611 (GRCm39) |
H367L |
probably damaging |
Het |
| Apoa4 |
C |
A |
9: 46,154,190 (GRCm39) |
Q264K |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,210,626 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
C |
A |
2: 120,554,232 (GRCm39) |
R939L |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,286,300 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ciita |
A |
T |
16: 10,332,297 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,159,592 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,507,105 (GRCm39) |
D215G |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,280,586 (GRCm39) |
S1218P |
probably benign |
Het |
| Ctsb |
A |
G |
14: 63,373,071 (GRCm39) |
E76G |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,205,659 (GRCm39) |
C161R |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,101,090 (GRCm39) |
L1211P |
probably damaging |
Het |
| Dhx9 |
G |
T |
1: 153,338,382 (GRCm39) |
T759K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,021,964 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,491,440 (GRCm39) |
E226K |
possibly damaging |
Het |
| Eif2d |
A |
T |
1: 131,095,864 (GRCm39) |
K453* |
probably null |
Het |
| Epha7 |
T |
C |
4: 28,961,279 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,289,169 (GRCm39) |
D118G |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
| Foxn4 |
T |
A |
5: 114,398,931 (GRCm39) |
Q159L |
probably damaging |
Het |
| Frs2 |
G |
T |
10: 116,910,781 (GRCm39) |
H194N |
possibly damaging |
Het |
| Fut8 |
A |
T |
12: 77,522,089 (GRCm39) |
*576L |
probably null |
Het |
| Galns |
T |
C |
8: 123,322,622 (GRCm39) |
|
probably benign |
Het |
| Gamt |
G |
A |
10: 80,094,895 (GRCm39) |
|
probably benign |
Het |
| Gpn1 |
T |
A |
5: 31,652,961 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,850,600 (GRCm39) |
H330Q |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,156,931 (GRCm39) |
Y1024S |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,787 (GRCm39) |
I229V |
probably benign |
Het |
| Katnal1 |
A |
G |
5: 148,858,085 (GRCm39) |
S42P |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,349,298 (GRCm39) |
D142V |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,681,417 (GRCm39) |
R470W |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,817 (GRCm39) |
S344G |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mipol1 |
C |
T |
12: 57,507,625 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,300,901 (GRCm39) |
V1378M |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,748 (GRCm39) |
D762V |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,303 (GRCm39) |
T43A |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,227,841 (GRCm39) |
T1316A |
possibly damaging |
Het |
| Naip5 |
A |
G |
13: 100,351,158 (GRCm39) |
|
probably null |
Het |
| Naip5 |
C |
A |
13: 100,359,622 (GRCm39) |
S538I |
probably benign |
Het |
| Nek3 |
A |
T |
8: 22,648,628 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,052,585 (GRCm39) |
S948P |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,169,822 (GRCm39) |
H193L |
probably benign |
Het |
| Or52h1 |
T |
A |
7: 103,828,680 (GRCm39) |
K312* |
probably null |
Het |
| Or9s23 |
A |
G |
1: 92,501,183 (GRCm39) |
K97E |
possibly damaging |
Het |
| Patl2 |
G |
A |
2: 121,956,191 (GRCm39) |
|
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,557,042 (GRCm39) |
R791W |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,355,265 (GRCm39) |
|
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,534,749 (GRCm39) |
V73D |
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,818,610 (GRCm39) |
H281L |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,502,257 (GRCm39) |
|
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,264,006 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,585,416 (GRCm39) |
F783S |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,619,623 (GRCm39) |
R125G |
probably damaging |
Het |
| Rnpep |
A |
G |
1: 135,200,223 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,527,562 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
G |
A |
11: 53,918,829 (GRCm39) |
|
probably benign |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Spmip5 |
G |
A |
19: 58,777,603 (GRCm39) |
A61V |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,066,460 (GRCm39) |
T3208I |
possibly damaging |
Het |
| Tgm5 |
G |
T |
2: 120,908,127 (GRCm39) |
D16E |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,010,886 (GRCm39) |
N558D |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,835,511 (GRCm39) |
L507Q |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,692,695 (GRCm39) |
Q262L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,607,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,662,433 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,179,099 (GRCm39) |
L3316Q |
probably damaging |
Het |
| Uckl1 |
T |
A |
2: 181,216,448 (GRCm39) |
Y136F |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,148,534 (GRCm39) |
V870A |
probably benign |
Het |
| Zdhhc25 |
A |
G |
15: 88,485,112 (GRCm39) |
D149G |
probably benign |
Het |
| Zfp648 |
C |
T |
1: 154,081,032 (GRCm39) |
T397M |
probably damaging |
Het |
| Zic2 |
C |
A |
14: 122,716,369 (GRCm39) |
T435K |
probably damaging |
Het |
|
| Other mutations in Col20a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Col20a1
|
APN |
2 |
180,645,272 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00975:Col20a1
|
APN |
2 |
180,634,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01094:Col20a1
|
APN |
2 |
180,641,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01388:Col20a1
|
APN |
2 |
180,645,264 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01472:Col20a1
|
APN |
2 |
180,649,625 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01936:Col20a1
|
APN |
2 |
180,651,161 (GRCm39) |
splice site |
probably benign |
|
|
IGL02133:Col20a1
|
APN |
2 |
180,648,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02318:Col20a1
|
APN |
2 |
180,648,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02576:Col20a1
|
APN |
2 |
180,655,198 (GRCm39) |
nonsense |
probably null |
|
|
IGL02822:Col20a1
|
APN |
2 |
180,638,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02898:Col20a1
|
APN |
2 |
180,630,905 (GRCm39) |
nonsense |
probably null |
|
|
IGL03056:Col20a1
|
APN |
2 |
180,636,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Col20a1
|
APN |
2 |
180,651,200 (GRCm39) |
nonsense |
probably null |
|
|
IGL03196:Col20a1
|
APN |
2 |
180,649,671 (GRCm39) |
splice site |
probably null |
|
|
R0200:Col20a1
|
UTSW |
2 |
180,642,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Col20a1
|
UTSW |
2 |
180,640,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0964:Col20a1
|
UTSW |
2 |
180,626,278 (GRCm39) |
unclassified |
probably benign |
|
|
R0975:Col20a1
|
UTSW |
2 |
180,648,619 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1359:Col20a1
|
UTSW |
2 |
180,641,585 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1395:Col20a1
|
UTSW |
2 |
180,640,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1470:Col20a1
|
UTSW |
2 |
180,636,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1470:Col20a1
|
UTSW |
2 |
180,636,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1508:Col20a1
|
UTSW |
2 |
180,634,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1865:Col20a1
|
UTSW |
2 |
180,657,606 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1883:Col20a1
|
UTSW |
2 |
180,634,703 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1884:Col20a1
|
UTSW |
2 |
180,634,703 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1906:Col20a1
|
UTSW |
2 |
180,640,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2020:Col20a1
|
UTSW |
2 |
180,654,956 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2121:Col20a1
|
UTSW |
2 |
180,638,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Col20a1
|
UTSW |
2 |
180,634,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2343:Col20a1
|
UTSW |
2 |
180,643,124 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3153:Col20a1
|
UTSW |
2 |
180,650,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Col20a1
|
UTSW |
2 |
180,655,078 (GRCm39) |
nonsense |
probably null |
|
|
R3547:Col20a1
|
UTSW |
2 |
180,636,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3844:Col20a1
|
UTSW |
2 |
180,634,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3914:Col20a1
|
UTSW |
2 |
180,640,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4414:Col20a1
|
UTSW |
2 |
180,643,043 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4711:Col20a1
|
UTSW |
2 |
180,634,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4760:Col20a1
|
UTSW |
2 |
180,626,196 (GRCm39) |
unclassified |
probably benign |
|
|
R4771:Col20a1
|
UTSW |
2 |
180,630,917 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4809:Col20a1
|
UTSW |
2 |
180,640,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Col20a1
|
UTSW |
2 |
180,639,156 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5045:Col20a1
|
UTSW |
2 |
180,648,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5238:Col20a1
|
UTSW |
2 |
180,640,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Col20a1
|
UTSW |
2 |
180,628,316 (GRCm39) |
splice site |
probably null |
|
|
R6389:Col20a1
|
UTSW |
2 |
180,634,376 (GRCm39) |
splice site |
probably null |
|
|
R6422:Col20a1
|
UTSW |
2 |
180,656,612 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6924:Col20a1
|
UTSW |
2 |
180,638,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Col20a1
|
UTSW |
2 |
180,638,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7177:Col20a1
|
UTSW |
2 |
180,636,007 (GRCm39) |
nonsense |
probably null |
|
|
R7195:Col20a1
|
UTSW |
2 |
180,649,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7717:Col20a1
|
UTSW |
2 |
180,649,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Col20a1
|
UTSW |
2 |
180,628,371 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8183:Col20a1
|
UTSW |
2 |
180,640,207 (GRCm39) |
missense |
|
|
|
R8188:Col20a1
|
UTSW |
2 |
180,658,126 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8331:Col20a1
|
UTSW |
2 |
180,638,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8423:Col20a1
|
UTSW |
2 |
180,640,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Col20a1
|
UTSW |
2 |
180,643,131 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8849:Col20a1
|
UTSW |
2 |
180,640,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Col20a1
|
UTSW |
2 |
180,655,684 (GRCm39) |
missense |
|
|
|
R8885:Col20a1
|
UTSW |
2 |
180,640,296 (GRCm39) |
splice site |
probably benign |
|
|
R9160:Col20a1
|
UTSW |
2 |
180,641,538 (GRCm39) |
missense |
probably benign |
|
|
R9223:Col20a1
|
UTSW |
2 |
180,648,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Col20a1
|
UTSW |
2 |
180,641,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATCCCCTACTGTCAGGCTGTG -3'
(R):5'- GCTCTCAATGAAGCTCTCGTGATCC -3'
Sequencing Primer
(F):5'- ACATGCCATTGCTAGGTACAG -3'
(R):5'- ATGAAGCTCTCGTGATCCATCTTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation