Incidental Mutation 'R0491:Col11a2'
| ID |
42502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col11a2
|
| Ensembl Gene |
ENSMUSG00000024330 |
| Gene Name |
collagen, type XI, alpha 2 |
| Synonyms |
|
| MMRRC Submission |
038689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R0491 (G1)
|
| Quality Score |
205 |
|
Status
|
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 |
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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.2023 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
100% (65/65) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,248,235 (GRCm39) |
F2661L |
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,031,836 (GRCm39) |
D224G |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,667,457 (GRCm39) |
D465G |
probably damaging |
Het |
| Akap9 |
A |
T |
5: 4,022,851 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,679,582 (GRCm39) |
T3240A |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,555,075 (GRCm39) |
W417R |
probably damaging |
Het |
| Arfgef1 |
C |
A |
1: 10,250,212 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
A |
G |
1: 170,614,913 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,016,746 (GRCm39) |
|
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,287,515 (GRCm39) |
F740L |
probably benign |
Het |
| Clec12a |
T |
A |
6: 129,341,016 (GRCm39) |
D265E |
probably benign |
Het |
| Clic3 |
T |
A |
2: 25,347,797 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,909,859 (GRCm39) |
T749P |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,211,727 (GRCm39) |
S356T |
probably damaging |
Het |
| Crxos |
T |
A |
7: 15,632,460 (GRCm39) |
S89T |
probably benign |
Het |
| Cxcr1 |
G |
T |
1: 74,231,468 (GRCm39) |
P185T |
possibly damaging |
Het |
| Cyp20a1 |
T |
A |
1: 60,410,486 (GRCm39) |
N262K |
possibly damaging |
Het |
| Dennd2b |
T |
A |
7: 109,156,411 (GRCm39) |
Q113L |
probably benign |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,324 (GRCm39) |
R46G |
probably benign |
Het |
| Dpysl2 |
A |
T |
14: 67,045,411 (GRCm39) |
L454Q |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
| Eppin |
T |
A |
2: 164,431,332 (GRCm39) |
E98V |
possibly damaging |
Het |
| Fancm |
A |
T |
12: 65,152,835 (GRCm39) |
H1097L |
probably benign |
Het |
| Fkbp4 |
A |
G |
6: 128,412,705 (GRCm39) |
I75T |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,409,525 (GRCm39) |
H586R |
unknown |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Haus6 |
A |
C |
4: 86,521,083 (GRCm39) |
V185G |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,772,114 (GRCm39) |
C1098S |
possibly damaging |
Het |
| Hic1 |
C |
A |
11: 75,057,136 (GRCm39) |
L584F |
possibly damaging |
Het |
| Itgb1bp1 |
C |
A |
12: 21,326,896 (GRCm39) |
|
probably benign |
Het |
| Kbtbd2 |
G |
A |
6: 56,757,374 (GRCm39) |
R121* |
probably null |
Het |
| Lgr4 |
C |
T |
2: 109,837,626 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
T |
C |
2: 85,022,264 (GRCm39) |
E309G |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,635,027 (GRCm39) |
|
probably null |
Het |
| Micu3 |
A |
G |
8: 40,819,294 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
G |
A |
10: 75,762,592 (GRCm39) |
A287V |
probably benign |
Het |
| Mpzl2 |
A |
G |
9: 44,954,039 (GRCm39) |
Y47C |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,415,752 (GRCm39) |
R2899S |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,794,857 (GRCm39) |
Y1078H |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Ncapd3 |
T |
G |
9: 26,969,179 (GRCm39) |
V611G |
probably damaging |
Het |
| Ntpcr |
C |
T |
8: 126,464,093 (GRCm39) |
R73* |
probably null |
Het |
| Or4c120 |
A |
T |
2: 89,000,704 (GRCm39) |
V284E |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,664,709 (GRCm39) |
F88S |
probably damaging |
Het |
| Pkn3 |
A |
T |
2: 29,979,889 (GRCm39) |
T711S |
probably damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,285,602 (GRCm39) |
K278E |
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,486,065 (GRCm39) |
T408A |
probably benign |
Het |
| Prss41 |
T |
C |
17: 24,061,477 (GRCm39) |
T105A |
possibly damaging |
Het |
| Psme1 |
G |
T |
14: 55,817,378 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,444,036 (GRCm39) |
Y1523N |
probably damaging |
Het |
| Ric8b |
A |
G |
10: 84,828,086 (GRCm39) |
D470G |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,375,795 (GRCm39) |
|
probably benign |
Het |
| Slc25a54 |
G |
A |
3: 109,010,112 (GRCm39) |
A204T |
probably damaging |
Het |
| Spink10 |
T |
C |
18: 62,793,036 (GRCm39) |
C67R |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,314,138 (GRCm39) |
|
probably null |
Het |
| Tprkb |
A |
G |
6: 85,901,446 (GRCm39) |
D28G |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,910,098 (GRCm39) |
H747R |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,259,302 (GRCm39) |
S1608G |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,596,774 (GRCm39) |
F2115L |
probably damaging |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,361 (GRCm39) |
I46L |
probably benign |
Het |
| Zdhhc8 |
A |
T |
16: 18,046,254 (GRCm39) |
M103K |
probably damaging |
Het |
| Zfp595 |
C |
T |
13: 67,465,369 (GRCm39) |
G298E |
probably damaging |
Het |
| Zfp738 |
T |
G |
13: 67,818,140 (GRCm39) |
H617P |
possibly damaging |
Het |
| Zfp9 |
A |
T |
6: 118,442,163 (GRCm39) |
H166Q |
probably damaging |
Het |
| Zp3r |
C |
A |
1: 130,546,071 (GRCm39) |
D80Y |
probably damaging |
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 |
|
|
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 |
|
|
R6252:Col11a2
|
UTSW |
17 |
34,261,186 (GRCm39) |
missense |
probably null |
0.00 |
|
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'- AGCGAGTCTGAGACACAGATGCTG -3'
(R):5'- GAGAGAAGTCTTTGGGAAAGCCTCC -3'
Sequencing Primer
(F):5'- CTGAGACACAGATGCTGACAGAG -3'
(R):5'- GTACCCCAGAGAGAGACACAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation