Incidental Mutation 'R0531:Col11a2'
| ID |
49197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col11a2
|
| Ensembl Gene |
ENSMUSG00000024330 |
| Gene Name |
collagen, type XI, alpha 2 |
| Synonyms |
|
| MMRRC Submission |
038723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R0531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 34277351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087497]
[ENSMUST00000114252]
[ENSMUST00000114255]
[ENSMUST00000143354]
|
| AlphaFold |
Q64739 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087497
|
| SMART Domains |
Protein: ENSMUSP00000084772
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 |
|
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 benign
Transcript: ENSMUST00000114252
|
| SMART Domains |
Protein: ENSMUSP00000109890
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 |
|
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 benign
Transcript: ENSMUST00000114255
|
| SMART Domains |
Protein: ENSMUSP00000109893
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
|
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 |
noncoding transcript
Transcript: ENSMUST00000137374
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143354
|
| SMART Domains |
Protein: ENSMUSP00000115026
Gene: ENSMUSG00000024330
| 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: ENSMUST00000144927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173749
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,892,127 (GRCm39) |
N130D |
probably benign |
Het |
| Acot6 |
C |
A |
12: 84,148,075 (GRCm39) |
D110E |
probably benign |
Het |
| Agrn |
T |
A |
4: 156,263,891 (GRCm39) |
N124I |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,427,959 (GRCm39) |
G710V |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,220,148 (GRCm39) |
V15A |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,840,280 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,090,974 (GRCm39) |
I743N |
probably damaging |
Het |
| Cenpa |
T |
C |
5: 30,829,837 (GRCm39) |
F39L |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,221,789 (GRCm39) |
M1L |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,122,541 (GRCm39) |
I107M |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,889,787 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
A |
G |
2: 24,974,781 (GRCm39) |
Y404C |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,932,633 (GRCm39) |
I125T |
possibly damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,298 (GRCm39) |
E159K |
possibly damaging |
Het |
| Fkbp5 |
A |
T |
17: 28,657,003 (GRCm39) |
H71Q |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,427,375 (GRCm39) |
Y2926N |
probably damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,691 (GRCm39) |
D23E |
probably damaging |
Het |
| Glt8d1 |
T |
C |
14: 30,728,461 (GRCm39) |
F3S |
probably benign |
Het |
| Gm11555 |
C |
T |
11: 99,540,844 (GRCm39) |
|
probably benign |
Het |
| Gtpbp1 |
G |
A |
15: 79,604,292 (GRCm39) |
G667S |
probably damaging |
Het |
| H2-T24 |
A |
C |
17: 36,326,463 (GRCm39) |
S145R |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,689,249 (GRCm39) |
N843I |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,139,620 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
T |
A |
15: 101,909,883 (GRCm39) |
M174L |
probably benign |
Het |
| Ktn1 |
C |
T |
14: 47,901,398 (GRCm39) |
T52I |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,305,523 (GRCm39) |
|
probably benign |
Het |
| Nefh |
G |
A |
11: 4,890,240 (GRCm39) |
A793V |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,593,835 (GRCm39) |
V840A |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,356,584 (GRCm39) |
S1678P |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,009,767 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 88,762,112 (GRCm39) |
F53S |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,168 (GRCm39) |
T49A |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,488,674 (GRCm39) |
I151V |
probably benign |
Het |
| Or5ac25 |
T |
A |
16: 59,182,171 (GRCm39) |
N137Y |
probably damaging |
Het |
| Or6z5 |
A |
T |
7: 6,477,234 (GRCm39) |
I42F |
possibly damaging |
Het |
| Or8g17 |
G |
T |
9: 38,930,472 (GRCm39) |
R122S |
probably damaging |
Het |
| Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pak4 |
T |
A |
7: 28,267,479 (GRCm39) |
I62F |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,371 (GRCm39) |
F506I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,995,016 (GRCm39) |
D632V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,498 (GRCm39) |
M2678T |
probably benign |
Het |
| Plg |
A |
G |
17: 12,630,334 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
T |
7: 44,627,048 (GRCm39) |
S304R |
probably damaging |
Het |
| Prr27 |
T |
C |
5: 87,990,537 (GRCm39) |
F50L |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,984,117 (GRCm39) |
L159P |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,481 (GRCm39) |
N432K |
possibly damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,020,621 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,426 (GRCm39) |
D1170V |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,762,351 (GRCm39) |
|
probably null |
Het |
| Sall4 |
C |
T |
2: 168,598,256 (GRCm39) |
A195T |
probably benign |
Het |
| Sbf2 |
G |
A |
7: 109,966,530 (GRCm39) |
|
probably benign |
Het |
| Scaper |
A |
T |
9: 55,517,158 (GRCm39) |
D599E |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,876 (GRCm39) |
S484N |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,962,761 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,031,166 (GRCm39) |
T623A |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,539,090 (GRCm39) |
D95G |
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,451 (GRCm39) |
D660G |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,336,077 (GRCm39) |
F73S |
possibly damaging |
Het |
| Slfn5 |
A |
T |
11: 82,851,866 (GRCm39) |
Q664L |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,624,375 (GRCm39) |
I512V |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,797 (GRCm39) |
T133A |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,836,300 (GRCm39) |
*175W |
probably null |
Het |
| Stk32c |
C |
A |
7: 138,700,636 (GRCm39) |
V316F |
probably damaging |
Het |
| Tekt1 |
A |
C |
11: 72,236,420 (GRCm39) |
N347K |
possibly damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,776,786 (GRCm39) |
C498S |
probably damaging |
Het |
| Tra2b |
G |
A |
16: 22,065,955 (GRCm39) |
R281* |
probably null |
Het |
| Ubr5 |
A |
T |
15: 37,991,588 (GRCm39) |
I1985N |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,175,378 (GRCm39) |
S1159A |
probably benign |
Het |
| Vmn1r15 |
C |
T |
6: 57,235,236 (GRCm39) |
P35S |
probably benign |
Het |
| Vmn1r6 |
A |
T |
6: 56,979,583 (GRCm39) |
I60L |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,278,561 (GRCm39) |
|
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,874,272 (GRCm39) |
V113A |
possibly 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 |
|
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'- AGCAAGGATTGCCTGGAACATCTG -3'
(R):5'- ACCCCGAATTCCCTCTCATGTGTAG -3'
Sequencing Primer
(F):5'- TTGCCTGGAACATCTGGGAAAG -3'
(R):5'- GGTCCACCCTATGAACCAGATTTAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation