Incidental Mutation 'R4810:Col11a2'
| ID |
371039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col11a2
|
| Ensembl Gene |
ENSMUSG00000024330 |
| Gene Name |
collagen, type XI, alpha 2 |
| Synonyms |
|
| MMRRC Submission |
042429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R4810 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34276086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 470
(S470L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087497]
[ENSMUST00000114252]
[ENSMUST00000114255]
[ENSMUST00000131134]
[ENSMUST00000143354]
|
| AlphaFold |
Q64739 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087497
AA Change: S778L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: S778L
| 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 |
possibly damaging
Transcript: ENSMUST00000114252
AA Change: S783L
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: S783L
| 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 damaging
Transcript: ENSMUST00000114255
AA Change: S817L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: S817L
| 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: ENSMUST00000131134
|
| SMART Domains |
Protein: ENSMUSP00000122082
Gene: ENSMUSG00000024330
| 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: ENSMUST00000137374
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143354
AA Change: S470L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115026
Gene: ENSMUSG00000024330
AA Change: S470L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
3 |
56 |
4.7e-9 |
PFAM |
|
Pfam:Collagen
|
91 |
152 |
1.7e-9 |
PFAM |
|
internal_repeat_1
|
158 |
301 |
3.7e-11 |
PROSPERO |
|
internal_repeat_2
|
276 |
321 |
1.18e-9 |
PROSPERO |
|
internal_repeat_4
|
291 |
306 |
1.06e-5 |
PROSPERO |
|
internal_repeat_3
|
303 |
353 |
1.87e-6 |
PROSPERO |
|
internal_repeat_2
|
315 |
360 |
1.18e-9 |
PROSPERO |
|
internal_repeat_1
|
323 |
439 |
3.7e-11 |
PROSPERO |
|
low complexity region
|
441 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
588 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
603 |
673 |
6.6e-6 |
PFAM |
|
Pfam:Collagen
|
627 |
694 |
5.4e-7 |
PFAM |
|
Pfam:Collagen
|
660 |
734 |
3.2e-7 |
PFAM |
|
Pfam:Collagen
|
711 |
770 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173749
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
99% (93/94) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,236,216 (GRCm39) |
V1189A |
possibly damaging |
Het |
| A3galt2 |
T |
C |
4: 128,649,356 (GRCm39) |
|
probably null |
Het |
| Abca12 |
T |
C |
1: 71,342,771 (GRCm39) |
D903G |
probably benign |
Het |
| Abcc12 |
T |
C |
8: 87,287,471 (GRCm39) |
M125V |
probably damaging |
Het |
| Adad1 |
A |
G |
3: 37,146,183 (GRCm39) |
N517S |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,774,302 (GRCm39) |
|
probably benign |
Het |
| Armc7 |
A |
G |
11: 115,379,787 (GRCm39) |
I162V |
probably benign |
Het |
| Art3 |
T |
A |
5: 92,562,108 (GRCm39) |
V343D |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,419,650 (GRCm39) |
T1106A |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,876,099 (GRCm39) |
N644D |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,382,472 (GRCm39) |
L98S |
probably damaging |
Het |
| Ccne1 |
A |
G |
7: 37,799,018 (GRCm39) |
W237R |
probably damaging |
Het |
| Cd33 |
T |
C |
7: 43,182,134 (GRCm39) |
I104V |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,173,945 (GRCm39) |
*237K |
probably null |
Het |
| Ces1e |
T |
A |
8: 93,935,259 (GRCm39) |
I398F |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,271,898 (GRCm39) |
I1217T |
probably damaging |
Het |
| Clns1a |
T |
C |
7: 97,363,224 (GRCm39) |
S199P |
probably benign |
Het |
| Cntn4 |
C |
A |
6: 106,632,572 (GRCm39) |
T532K |
probably benign |
Het |
| Cst5 |
A |
T |
2: 149,247,463 (GRCm39) |
R60* |
probably null |
Het |
| Cxcr6 |
A |
T |
9: 123,639,227 (GRCm39) |
D83V |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,975,296 (GRCm39) |
V774A |
probably damaging |
Het |
| Dusp15 |
A |
G |
2: 152,787,374 (GRCm39) |
L79P |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,377,327 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,705,011 (GRCm39) |
V1511E |
possibly damaging |
Het |
| Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
| Fam227b |
A |
G |
2: 125,829,859 (GRCm39) |
F450L |
probably benign |
Het |
| Fam91a1 |
T |
A |
15: 58,306,589 (GRCm39) |
L452Q |
probably damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,240,903 (GRCm39) |
Y199C |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,443,126 (GRCm39) |
S149P |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,781,325 (GRCm39) |
E362G |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,819,116 (GRCm39) |
I325V |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm10088 |
G |
T |
16: 18,847,081 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
T |
C |
7: 24,714,922 (GRCm39) |
N691D |
probably damaging |
Het |
| Grm1 |
C |
G |
10: 10,658,438 (GRCm39) |
D351H |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,761,295 (GRCm39) |
S310G |
possibly damaging |
Het |
| Gtf2h2 |
A |
G |
13: 100,617,510 (GRCm39) |
|
probably null |
Het |
| Hhex |
G |
T |
19: 37,428,103 (GRCm39) |
L49F |
probably damaging |
Het |
| Hkdc1 |
T |
A |
10: 62,247,304 (GRCm39) |
R159S |
probably benign |
Het |
| Iqcm |
A |
G |
8: 76,615,281 (GRCm39) |
Y454C |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,212,248 (GRCm39) |
|
probably null |
Het |
| Larp4b |
A |
G |
13: 9,208,627 (GRCm39) |
T427A |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,448,046 (GRCm39) |
N297K |
probably benign |
Het |
| Nek8 |
G |
A |
11: 78,058,629 (GRCm39) |
T557I |
probably benign |
Het |
| Nlrp9c |
A |
C |
7: 26,077,602 (GRCm39) |
|
probably null |
Het |
| Nmrk1 |
T |
A |
19: 18,617,273 (GRCm39) |
D48E |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,131,759 (GRCm39) |
T365I |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,922,417 (GRCm39) |
T5921M |
possibly damaging |
Het |
| Or8b44 |
C |
A |
9: 38,410,620 (GRCm39) |
Y218* |
probably null |
Het |
| Or8c9 |
A |
G |
9: 38,241,690 (GRCm39) |
E269G |
probably benign |
Het |
| Otud7b |
C |
T |
3: 96,043,918 (GRCm39) |
A23V |
probably damaging |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,601 (GRCm39) |
A477T |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,744,173 (GRCm39) |
I663N |
probably damaging |
Het |
| Plscr1l1 |
A |
G |
9: 92,236,683 (GRCm39) |
D190G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,003 (GRCm39) |
S732R |
possibly damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,751,551 (GRCm39) |
I1166V |
probably benign |
Het |
| Ppp2r5a |
C |
T |
1: 191,088,589 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,897,011 (GRCm39) |
K401E |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,218,204 (GRCm39) |
Y611H |
possibly damaging |
Het |
| Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,406 (GRCm39) |
C443S |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,841,778 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
C |
10: 39,699,721 (GRCm39) |
L1406P |
probably benign |
Het |
| Rnaset2b |
T |
A |
17: 7,259,167 (GRCm39) |
D48E |
probably benign |
Het |
| Rnf13 |
G |
T |
3: 57,703,693 (GRCm39) |
M105I |
probably damaging |
Het |
| Rnf150 |
T |
C |
8: 83,716,991 (GRCm39) |
V166A |
possibly damaging |
Het |
| Rps6kc1 |
C |
A |
1: 190,541,160 (GRCm39) |
R381L |
probably damaging |
Het |
| Rspo2 |
C |
T |
15: 43,033,216 (GRCm39) |
R2H |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,425,416 (GRCm39) |
D103G |
probably damaging |
Het |
| Sirt4 |
A |
G |
5: 115,618,508 (GRCm39) |
W189R |
probably damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,350,979 (GRCm39) |
V110A |
possibly damaging |
Het |
| Sncaip |
C |
A |
18: 53,040,271 (GRCm39) |
Q822K |
possibly damaging |
Het |
| Spg11 |
A |
C |
2: 121,890,277 (GRCm39) |
F2070V |
probably damaging |
Het |
| Sptb |
A |
T |
12: 76,669,971 (GRCm39) |
Y452* |
probably null |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Tead1 |
C |
A |
7: 112,441,073 (GRCm39) |
|
probably null |
Het |
| Tmem156 |
G |
T |
5: 65,248,790 (GRCm39) |
|
probably benign |
Het |
| Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
| Tmem260 |
A |
G |
14: 48,709,930 (GRCm39) |
E51G |
probably damaging |
Het |
| Trim36 |
G |
T |
18: 46,305,536 (GRCm39) |
N470K |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,685,692 (GRCm39) |
T158S |
probably benign |
Het |
| Ube2c |
A |
G |
2: 164,614,482 (GRCm39) |
*180W |
probably null |
Het |
| Ube2i |
T |
C |
17: 25,484,121 (GRCm39) |
D45G |
probably benign |
Het |
| Uggt2 |
A |
C |
14: 119,250,933 (GRCm39) |
L1188R |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,340,135 (GRCm39) |
I680T |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,044,883 (GRCm39) |
M88L |
probably damaging |
Het |
| Zfp248 |
G |
A |
6: 118,406,807 (GRCm39) |
R261C |
possibly damaging |
Het |
| Zfp418 |
G |
T |
7: 7,185,846 (GRCm39) |
R603L |
possibly damaging |
Het |
| Zmpste24 |
T |
A |
4: 120,918,251 (GRCm39) |
Y457F |
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 |
|
|
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 |
|
|
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'- TCCAGACTCAAGGATGTTTCTG -3'
(R):5'- AATCCATTGGGGCCTTGAGG -3'
Sequencing Primer
(F):5'- TCTGTCTACCTAGGGTCCAAGG -3'
(R):5'- GCCTTGAGGTCCAGGAAGAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation