Incidental Mutation 'R6252:Col11a2'
ID |
506300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col11a2
|
Ensembl Gene |
ENSMUSG00000024330 |
Gene Name |
collagen, type XI, alpha 2 |
Synonyms |
|
MMRRC Submission |
044369-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R6252 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34261186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 45
(D45E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044858]
[ENSMUST00000087497]
[ENSMUST00000114252]
[ENSMUST00000114255]
[ENSMUST00000116612]
[ENSMUST00000131134]
[ENSMUST00000173354]
|
AlphaFold |
Q64739 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044858
|
SMART Domains |
Protein: ENSMUSP00000036585 Gene: ENSMUSG00000039656
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
85 |
N/A |
INTRINSIC |
low complexity region
|
94 |
121 |
N/A |
INTRINSIC |
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
low complexity region
|
179 |
186 |
N/A |
INTRINSIC |
ZnF_C4
|
189 |
260 |
3.98e-39 |
SMART |
low complexity region
|
269 |
282 |
N/A |
INTRINSIC |
low complexity region
|
305 |
316 |
N/A |
INTRINSIC |
HOLI
|
328 |
491 |
1.91e-50 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000087497
AA Change: D45E
|
SMART Domains |
Protein: ENSMUSP00000084772 Gene: ENSMUSG00000024330 AA Change: D45E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
TSPN
|
31 |
214 |
4.25e-72 |
SMART |
LamG
|
82 |
213 |
1.08e-9 |
SMART |
Pfam:Collagen
|
306 |
364 |
2.2e-9 |
PFAM |
Pfam:Collagen
|
399 |
460 |
1e-10 |
PFAM |
Pfam:Collagen
|
437 |
520 |
1.2e-7 |
PFAM |
Pfam:Collagen
|
479 |
553 |
5.7e-9 |
PFAM |
Pfam:Collagen
|
506 |
579 |
1.6e-8 |
PFAM |
internal_repeat_4
|
584 |
614 |
3.98e-5 |
PROSPERO |
internal_repeat_2
|
584 |
669 |
5.49e-20 |
PROSPERO |
internal_repeat_1
|
587 |
740 |
2.58e-22 |
PROSPERO |
Pfam:Collagen
|
743 |
814 |
1.5e-8 |
PFAM |
Pfam:Collagen
|
767 |
839 |
4.8e-7 |
PFAM |
low complexity region
|
854 |
872 |
N/A |
INTRINSIC |
Pfam:Collagen
|
881 |
946 |
4.5e-8 |
PFAM |
Pfam:Collagen
|
905 |
976 |
2e-7 |
PFAM |
Pfam:Collagen
|
933 |
1002 |
2.7e-8 |
PFAM |
low complexity region
|
1013 |
1047 |
N/A |
INTRINSIC |
low complexity region
|
1064 |
1112 |
N/A |
INTRINSIC |
low complexity region
|
1121 |
1199 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1232 |
N/A |
INTRINSIC |
low complexity region
|
1289 |
1320 |
N/A |
INTRINSIC |
Pfam:Collagen
|
1358 |
1417 |
1.7e-8 |
PFAM |
COLFI
|
1454 |
1649 |
4.42e-117 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114252
AA Change: D45E
|
SMART Domains |
Protein: ENSMUSP00000109890 Gene: ENSMUSG00000024330 AA Change: D45E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
TSPN
|
31 |
214 |
4.25e-72 |
SMART |
LamG
|
82 |
213 |
1.08e-9 |
SMART |
Pfam:Collagen
|
311 |
369 |
2.3e-9 |
PFAM |
Pfam:Collagen
|
404 |
465 |
1.1e-10 |
PFAM |
Pfam:Collagen
|
442 |
525 |
1.3e-7 |
PFAM |
Pfam:Collagen
|
484 |
558 |
6.4e-9 |
PFAM |
Pfam:Collagen
|
511 |
584 |
1.7e-8 |
PFAM |
internal_repeat_4
|
589 |
619 |
3.69e-5 |
PROSPERO |
internal_repeat_2
|
589 |
674 |
4.46e-20 |
PROSPERO |
internal_repeat_1
|
592 |
745 |
2.05e-22 |
PROSPERO |
internal_repeat_3
|
636 |
752 |
7.84e-10 |
PROSPERO |
Pfam:Collagen
|
772 |
844 |
5.5e-7 |
PFAM |
Pfam:Collagen
|
800 |
869 |
1.9e-8 |
PFAM |
Pfam:Collagen
|
886 |
951 |
5e-8 |
PFAM |
Pfam:Collagen
|
910 |
981 |
2.2e-7 |
PFAM |
Pfam:Collagen
|
934 |
1007 |
6.9e-7 |
PFAM |
low complexity region
|
1018 |
1052 |
N/A |
INTRINSIC |
low complexity region
|
1069 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1126 |
1204 |
N/A |
INTRINSIC |
low complexity region
|
1221 |
1237 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1325 |
N/A |
INTRINSIC |
Pfam:Collagen
|
1363 |
1422 |
1.9e-8 |
PFAM |
COLFI
|
1459 |
1654 |
4.42e-117 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114255
AA Change: D45E
|
SMART Domains |
Protein: ENSMUSP00000109893 Gene: ENSMUSG00000024330 AA Change: D45E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
TSPN
|
31 |
214 |
4.25e-72 |
SMART |
LamG
|
82 |
213 |
1.08e-9 |
SMART |
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
Pfam:Collagen
|
345 |
403 |
2.1e-9 |
PFAM |
Pfam:Collagen
|
438 |
499 |
1.1e-10 |
PFAM |
Pfam:Collagen
|
521 |
593 |
2.2e-8 |
PFAM |
Pfam:Collagen
|
545 |
613 |
9.1e-10 |
PFAM |
internal_repeat_4
|
623 |
653 |
2.83e-5 |
PROSPERO |
internal_repeat_2
|
623 |
708 |
2.11e-20 |
PROSPERO |
internal_repeat_1
|
626 |
779 |
9e-23 |
PROSPERO |
internal_repeat_3
|
670 |
786 |
5.16e-10 |
PROSPERO |
low complexity region
|
788 |
819 |
N/A |
INTRINSIC |
low complexity region
|
830 |
857 |
N/A |
INTRINSIC |
low complexity region
|
866 |
887 |
N/A |
INTRINSIC |
low complexity region
|
893 |
911 |
N/A |
INTRINSIC |
low complexity region
|
919 |
935 |
N/A |
INTRINSIC |
Pfam:Collagen
|
973 |
1041 |
2.9e-8 |
PFAM |
low complexity region
|
1052 |
1086 |
N/A |
INTRINSIC |
low complexity region
|
1103 |
1151 |
N/A |
INTRINSIC |
low complexity region
|
1160 |
1238 |
N/A |
INTRINSIC |
low complexity region
|
1255 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1328 |
1359 |
N/A |
INTRINSIC |
Pfam:Collagen
|
1394 |
1456 |
1.5e-8 |
PFAM |
COLFI
|
1493 |
1688 |
4.42e-117 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116612
|
SMART Domains |
Protein: ENSMUSP00000112311 Gene: ENSMUSG00000039656
Domain | Start | End | E-Value | Type |
Pfam:Nuc_recep-AF1
|
2 |
76 |
4.3e-10 |
PFAM |
ZnF_C4
|
79 |
150 |
3.98e-39 |
SMART |
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
HOLI
|
218 |
377 |
1.35e-50 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000131134
AA Change: D45E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000122082 Gene: ENSMUSG00000024330 AA Change: D45E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
TSPN
|
31 |
214 |
4.25e-72 |
SMART |
LamG
|
82 |
213 |
1.08e-9 |
SMART |
low complexity region
|
303 |
314 |
N/A |
INTRINSIC |
low complexity region
|
342 |
354 |
N/A |
INTRINSIC |
Pfam:Collagen
|
392 |
450 |
7.8e-10 |
PFAM |
Pfam:Collagen
|
484 |
543 |
1.4e-10 |
PFAM |
Pfam:Collagen
|
514 |
581 |
9.5e-11 |
PFAM |
Pfam:Collagen
|
565 |
624 |
2.1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174578
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174033
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174299
|
SMART Domains |
Protein: ENSMUSP00000133775 Gene: ENSMUSG00000039656
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
low complexity region
|
25 |
52 |
N/A |
INTRINSIC |
low complexity region
|
55 |
78 |
N/A |
INTRINSIC |
low complexity region
|
110 |
117 |
N/A |
INTRINSIC |
ZnF_C4
|
120 |
191 |
3.98e-39 |
SMART |
low complexity region
|
200 |
213 |
N/A |
INTRINSIC |
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
HOLI
|
259 |
418 |
1.35e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173354
|
SMART Domains |
Protein: ENSMUSP00000133661 Gene: ENSMUSG00000039656
Domain | Start | End | E-Value | Type |
Pfam:Nuc_recep-AF1
|
2 |
76 |
4.3e-10 |
PFAM |
ZnF_C4
|
79 |
150 |
3.98e-39 |
SMART |
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
HOLI
|
218 |
381 |
1.91e-50 |
SMART |
|
Meta Mutation Damage Score |
0.2023 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the alpha-2 subunit of type XI collagen, one of the low abundance fibrillar collagens found in cartilage. The encoded protein, in association with other collagen subunits, forms a heterotrimeric type XI procollagen that may undergo proteolytic processing similar to the alpha-1 subunit. Mice lacking the encoded protein exhibit a mild phenotype similar to nonocular Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED) as well as a nonsyndromic form of deafness called DFNA13. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] PHENOTYPE: Homozygous mutant animals exhibit reduced body size, short snout, a slightly bulged forehead, deafness, and disorganization of chondrocytes in the growth plate of long bones. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,122,305 (GRCm39) |
I393V |
probably benign |
Het |
Agl |
C |
T |
3: 116,580,878 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,620,561 (GRCm39) |
E1097G |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,015 (GRCm39) |
H297R |
probably benign |
Het |
AW146154 |
G |
A |
7: 41,130,811 (GRCm39) |
P102S |
probably benign |
Het |
Cap1 |
A |
G |
4: 122,766,193 (GRCm39) |
V15A |
probably benign |
Het |
Cavin2 |
A |
G |
1: 51,328,828 (GRCm39) |
N95S |
probably benign |
Het |
Col8a1 |
A |
G |
16: 57,447,368 (GRCm39) |
V714A |
unknown |
Het |
Crispld1 |
A |
G |
1: 17,819,731 (GRCm39) |
E243G |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,460,693 (GRCm39) |
Y205H |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,028,382 (GRCm39) |
F1308L |
probably damaging |
Het |
Eqtn |
A |
T |
4: 94,796,006 (GRCm39) |
S232T |
probably damaging |
Het |
Esyt1 |
T |
C |
10: 128,347,771 (GRCm39) |
E973G |
probably benign |
Het |
Fbxl13 |
T |
A |
5: 21,826,499 (GRCm39) |
M96L |
possibly damaging |
Het |
Frem2 |
A |
T |
3: 53,479,869 (GRCm39) |
F1941L |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,259,995 (GRCm39) |
V1050A |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,446,664 (GRCm39) |
H721R |
probably damaging |
Het |
Idh1 |
T |
G |
1: 65,207,690 (GRCm39) |
Q163P |
probably benign |
Het |
Kctd15 |
A |
G |
7: 34,341,348 (GRCm39) |
V193A |
probably benign |
Het |
Npas3 |
A |
G |
12: 54,115,673 (GRCm39) |
Y834C |
probably damaging |
Het |
Opn4 |
C |
T |
14: 34,316,788 (GRCm39) |
V334I |
probably benign |
Het |
Or10w3 |
A |
T |
19: 13,704,419 (GRCm39) |
S265C |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,107,649 (GRCm39) |
M687V |
probably benign |
Het |
Pcdhgc5 |
T |
C |
18: 37,954,583 (GRCm39) |
F619S |
probably damaging |
Het |
Pdlim2 |
G |
T |
14: 70,405,137 (GRCm39) |
Q243K |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,800,200 (GRCm39) |
L2987P |
probably damaging |
Het |
Plcz1 |
A |
G |
6: 139,953,329 (GRCm39) |
|
probably null |
Het |
Prpf6 |
C |
T |
2: 181,289,156 (GRCm39) |
A615V |
probably damaging |
Het |
Pwp1 |
T |
C |
10: 85,710,373 (GRCm39) |
V5A |
probably benign |
Het |
Rsph10b |
T |
A |
5: 143,873,939 (GRCm39) |
D13E |
possibly damaging |
Het |
Slc44a3 |
T |
A |
3: 121,307,386 (GRCm39) |
D200V |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,119,588 (GRCm39) |
Q4474R |
probably benign |
Het |
St7l |
T |
C |
3: 104,826,819 (GRCm39) |
|
probably null |
Het |
Stc2 |
T |
A |
11: 31,310,346 (GRCm39) |
D230V |
probably damaging |
Het |
Syne2 |
C |
A |
12: 76,016,210 (GRCm39) |
T3264K |
probably benign |
Het |
Trp73 |
C |
A |
4: 154,148,854 (GRCm39) |
D252Y |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,737,376 (GRCm39) |
D1056G |
probably benign |
Het |
Vcan |
C |
T |
13: 89,839,339 (GRCm39) |
W1108* |
probably null |
Het |
Zfp772 |
G |
T |
7: 7,207,018 (GRCm39) |
S224R |
possibly damaging |
Het |
Zfp804b |
A |
T |
5: 6,819,478 (GRCm39) |
V1159E |
probably damaging |
Het |
Zfp981 |
T |
G |
4: 146,621,970 (GRCm39) |
S298R |
probably benign |
Het |
Zmat3 |
A |
G |
3: 32,395,770 (GRCm39) |
F246L |
possibly damaging |
Het |
Zranb1 |
A |
G |
7: 132,585,633 (GRCm39) |
T720A |
probably benign |
Het |
|
Other mutations in Col11a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01723:Col11a2
|
APN |
17 |
34,280,254 (GRCm39) |
unclassified |
probably benign |
|
IGL01839:Col11a2
|
APN |
17 |
34,283,056 (GRCm39) |
unclassified |
probably benign |
|
IGL02429:Col11a2
|
APN |
17 |
34,261,266 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02491:Col11a2
|
APN |
17 |
34,283,181 (GRCm39) |
unclassified |
probably benign |
|
BB010:Col11a2
|
UTSW |
17 |
34,275,029 (GRCm39) |
nonsense |
probably null |
|
BB020:Col11a2
|
UTSW |
17 |
34,275,029 (GRCm39) |
nonsense |
probably null |
|
PIT4531001:Col11a2
|
UTSW |
17 |
34,265,412 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0001:Col11a2
|
UTSW |
17 |
34,280,586 (GRCm39) |
missense |
probably benign |
0.00 |
R0005:Col11a2
|
UTSW |
17 |
34,281,853 (GRCm39) |
unclassified |
probably benign |
|
R0099:Col11a2
|
UTSW |
17 |
34,268,648 (GRCm39) |
missense |
probably damaging |
0.99 |
R0106:Col11a2
|
UTSW |
17 |
34,276,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R0243:Col11a2
|
UTSW |
17 |
34,281,520 (GRCm39) |
unclassified |
probably benign |
|
R0254:Col11a2
|
UTSW |
17 |
34,283,777 (GRCm39) |
unclassified |
probably benign |
|
R0352:Col11a2
|
UTSW |
17 |
34,261,501 (GRCm39) |
missense |
probably benign |
0.43 |
R0362:Col11a2
|
UTSW |
17 |
34,281,420 (GRCm39) |
splice site |
probably null |
|
R0491:Col11a2
|
UTSW |
17 |
34,261,186 (GRCm39) |
missense |
probably null |
0.00 |
R0531:Col11a2
|
UTSW |
17 |
34,277,351 (GRCm39) |
splice site |
probably benign |
|
R0538:Col11a2
|
UTSW |
17 |
34,270,302 (GRCm39) |
splice site |
probably benign |
|
R0646:Col11a2
|
UTSW |
17 |
34,278,322 (GRCm39) |
critical splice donor site |
probably null |
|
R0676:Col11a2
|
UTSW |
17 |
34,276,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R0919:Col11a2
|
UTSW |
17 |
34,278,124 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1522:Col11a2
|
UTSW |
17 |
34,274,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Col11a2
|
UTSW |
17 |
34,282,869 (GRCm39) |
unclassified |
probably benign |
|
R1872:Col11a2
|
UTSW |
17 |
34,281,529 (GRCm39) |
unclassified |
probably benign |
|
R1941:Col11a2
|
UTSW |
17 |
34,263,925 (GRCm39) |
missense |
probably benign |
0.01 |
R1945:Col11a2
|
UTSW |
17 |
34,278,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:Col11a2
|
UTSW |
17 |
34,271,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R2161:Col11a2
|
UTSW |
17 |
34,283,771 (GRCm39) |
unclassified |
probably benign |
|
R2258:Col11a2
|
UTSW |
17 |
34,258,651 (GRCm39) |
missense |
probably benign |
|
R2259:Col11a2
|
UTSW |
17 |
34,258,651 (GRCm39) |
missense |
probably benign |
|
R2260:Col11a2
|
UTSW |
17 |
34,258,651 (GRCm39) |
missense |
probably benign |
|
R2761:Col11a2
|
UTSW |
17 |
34,270,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R3114:Col11a2
|
UTSW |
17 |
34,265,442 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3824:Col11a2
|
UTSW |
17 |
34,273,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R3938:Col11a2
|
UTSW |
17 |
34,258,599 (GRCm39) |
unclassified |
probably benign |
|
R4039:Col11a2
|
UTSW |
17 |
34,264,748 (GRCm39) |
missense |
probably benign |
0.00 |
R4675:Col11a2
|
UTSW |
17 |
34,283,267 (GRCm39) |
critical splice donor site |
probably null |
|
R4810:Col11a2
|
UTSW |
17 |
34,276,086 (GRCm39) |
missense |
probably damaging |
0.99 |
R4824:Col11a2
|
UTSW |
17 |
34,269,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Col11a2
|
UTSW |
17 |
34,261,164 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5112:Col11a2
|
UTSW |
17 |
34,283,062 (GRCm39) |
unclassified |
probably benign |
|
R5355:Col11a2
|
UTSW |
17 |
34,270,775 (GRCm39) |
missense |
probably benign |
0.07 |
R5384:Col11a2
|
UTSW |
17 |
34,278,148 (GRCm39) |
critical splice donor site |
probably null |
|
R5534:Col11a2
|
UTSW |
17 |
34,269,998 (GRCm39) |
missense |
probably damaging |
0.99 |
R5860:Col11a2
|
UTSW |
17 |
34,283,159 (GRCm39) |
unclassified |
probably benign |
|
R6327:Col11a2
|
UTSW |
17 |
34,262,291 (GRCm39) |
missense |
probably benign |
0.32 |
R6828:Col11a2
|
UTSW |
17 |
34,272,607 (GRCm39) |
splice site |
probably null |
|
R6860:Col11a2
|
UTSW |
17 |
34,272,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R6873:Col11a2
|
UTSW |
17 |
34,283,993 (GRCm39) |
missense |
unknown |
|
R6992:Col11a2
|
UTSW |
17 |
34,266,118 (GRCm39) |
missense |
probably benign |
0.01 |
R7292:Col11a2
|
UTSW |
17 |
34,270,482 (GRCm39) |
missense |
unknown |
|
R7543:Col11a2
|
UTSW |
17 |
34,269,430 (GRCm39) |
missense |
unknown |
|
R7933:Col11a2
|
UTSW |
17 |
34,275,029 (GRCm39) |
nonsense |
probably null |
|
R8157:Col11a2
|
UTSW |
17 |
34,280,230 (GRCm39) |
missense |
unknown |
|
R8161:Col11a2
|
UTSW |
17 |
34,270,264 (GRCm39) |
missense |
unknown |
|
R8209:Col11a2
|
UTSW |
17 |
34,266,253 (GRCm39) |
critical splice donor site |
probably null |
|
R8493:Col11a2
|
UTSW |
17 |
34,278,936 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8705:Col11a2
|
UTSW |
17 |
34,268,769 (GRCm39) |
missense |
unknown |
|
R8901:Col11a2
|
UTSW |
17 |
34,262,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R8946:Col11a2
|
UTSW |
17 |
34,270,757 (GRCm39) |
missense |
probably benign |
0.40 |
R9010:Col11a2
|
UTSW |
17 |
34,283,760 (GRCm39) |
missense |
unknown |
|
R9108:Col11a2
|
UTSW |
17 |
34,276,634 (GRCm39) |
missense |
probably benign |
0.21 |
R9138:Col11a2
|
UTSW |
17 |
34,279,847 (GRCm39) |
missense |
|
|
R9147:Col11a2
|
UTSW |
17 |
34,273,119 (GRCm39) |
splice site |
probably benign |
|
R9148:Col11a2
|
UTSW |
17 |
34,273,119 (GRCm39) |
splice site |
probably benign |
|
R9338:Col11a2
|
UTSW |
17 |
34,266,204 (GRCm39) |
missense |
unknown |
|
R9485:Col11a2
|
UTSW |
17 |
34,258,669 (GRCm39) |
missense |
unknown |
|
X0017:Col11a2
|
UTSW |
17 |
34,278,959 (GRCm39) |
critical splice donor site |
probably null |
|
X0064:Col11a2
|
UTSW |
17 |
34,261,221 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1176:Col11a2
|
UTSW |
17 |
34,275,376 (GRCm39) |
missense |
unknown |
|
Z1177:Col11a2
|
UTSW |
17 |
34,270,640 (GRCm39) |
missense |
probably benign |
0.40 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTGGAGTTGCATGCCAG -3'
(R):5'- AAGTCTTTGGGAAAGCCTCCTG -3'
Sequencing Primer
(F):5'- AGGTGCACCTCCCCTCTG -3'
(R):5'- TTTGGGAAAGCCTCCTGGTACC -3'
|
Posted On |
2018-03-15 |