Incidental Mutation 'R7543:Col11a2'
| ID |
584047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col11a2
|
| Ensembl Gene |
ENSMUSG00000024330 |
| Gene Name |
collagen, type XI, alpha 2 |
| Synonyms |
|
| MMRRC Submission |
045615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R7543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34269430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 440
(D440V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087497]
[ENSMUST00000114252]
[ENSMUST00000114255]
[ENSMUST00000131134]
[ENSMUST00000143354]
|
| AlphaFold |
Q64739 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087497
AA Change: D354V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: D354V
| 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 damaging
Transcript: ENSMUST00000114252
AA Change: D359V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: D359V
| 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: D393V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: D393V
| 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 |
unknown
Transcript: ENSMUST00000131134
AA Change: D440V
|
| SMART Domains |
Protein: ENSMUSP00000122082
Gene: ENSMUSG00000024330
AA Change: D440V
| 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 |
unknown
Transcript: ENSMUST00000143354
AA Change: D46V
|
| SMART Domains |
Protein: ENSMUSP00000115026
Gene: ENSMUSG00000024330
AA Change: D46V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,559,920 (GRCm39) |
S54T |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,266,615 (GRCm39) |
V59I |
|
Het |
| Acss2 |
A |
T |
2: 155,391,755 (GRCm39) |
I203F |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,083,207 (GRCm39) |
N435S |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,889,972 (GRCm39) |
D88G |
probably benign |
Het |
| Ajm1 |
C |
A |
2: 25,467,410 (GRCm39) |
A834S |
possibly damaging |
Het |
| Ank3 |
C |
T |
10: 69,786,846 (GRCm39) |
T970M |
possibly damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,115,894 (GRCm39) |
|
probably null |
Het |
| Apc2 |
A |
G |
10: 80,150,720 (GRCm39) |
K1925E |
possibly damaging |
Het |
| Aspscr1 |
A |
G |
11: 120,600,249 (GRCm39) |
N130D |
unknown |
Het |
| B3glct |
A |
G |
5: 149,677,604 (GRCm39) |
D411G |
probably damaging |
Het |
| Bard1 |
T |
C |
1: 71,114,589 (GRCm39) |
K131E |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,609,066 (GRCm39) |
D120G |
probably damaging |
Het |
| Brms1l |
A |
T |
12: 55,914,997 (GRCm39) |
D302V |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,718,572 (GRCm39) |
Y56* |
probably null |
Het |
| Cela3a |
T |
A |
4: 137,129,883 (GRCm39) |
H246L |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,254,876 (GRCm39) |
I21T |
unknown |
Het |
| Dag1 |
C |
T |
9: 108,095,280 (GRCm39) |
V71I |
probably benign |
Het |
| Ddx23 |
A |
G |
15: 98,556,139 (GRCm39) |
S60P |
unknown |
Het |
| Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
| Dync1i1 |
T |
C |
6: 5,784,464 (GRCm39) |
S103P |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,822,753 (GRCm39) |
D755E |
probably damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,669 (GRCm39) |
T221A |
probably benign |
Het |
| Fbxo4 |
T |
C |
15: 4,007,385 (GRCm39) |
D93G |
probably damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,999 (GRCm39) |
V254A |
probably damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,341 (GRCm39) |
V281A |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,086 (GRCm39) |
I774K |
probably benign |
Het |
| Gpr132 |
A |
C |
12: 112,815,822 (GRCm39) |
C335G |
probably benign |
Het |
| Gpr162 |
G |
T |
6: 124,838,355 (GRCm39) |
Y98* |
probably null |
Het |
| H2-T24 |
T |
C |
17: 36,325,743 (GRCm39) |
T283A |
possibly damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,186 (GRCm39) |
Y50C |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,486,199 (GRCm39) |
N53S |
possibly damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,431,425 (GRCm39) |
K60R |
possibly damaging |
Het |
| Kif24 |
A |
T |
4: 41,413,993 (GRCm39) |
Y316* |
probably null |
Het |
| Krt18 |
A |
G |
15: 101,939,896 (GRCm39) |
K365E |
probably damaging |
Het |
| Lrguk |
T |
A |
6: 34,025,870 (GRCm39) |
L222* |
probably null |
Het |
| Mbd1 |
T |
G |
18: 74,407,520 (GRCm39) |
V210G |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,499,155 (GRCm39) |
I90V |
not run |
Het |
| Muc16 |
A |
G |
9: 18,556,028 (GRCm39) |
S3422P |
unknown |
Het |
| Mynn |
G |
A |
3: 30,661,188 (GRCm39) |
W90* |
probably null |
Het |
| Or5p5 |
T |
A |
7: 107,414,308 (GRCm39) |
N172K |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,859,520 (GRCm39) |
H687Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,814,227 (GRCm39) |
E4199G |
probably damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,192,491 (GRCm39) |
E517G |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,299,837 (GRCm39) |
D1644G |
probably damaging |
Het |
| Pon1 |
C |
T |
6: 5,168,400 (GRCm39) |
V336M |
possibly damaging |
Het |
| Pop1 |
T |
A |
15: 34,530,593 (GRCm39) |
L1027Q |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,124,993 (GRCm39) |
S306P |
probably damaging |
Het |
| Prpsap2 |
A |
T |
11: 61,635,797 (GRCm39) |
F168I |
possibly damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,359,444 (GRCm39) |
D2E |
probably damaging |
Het |
| Rgmb |
A |
T |
17: 16,027,777 (GRCm39) |
L314Q |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,653,317 (GRCm39) |
|
probably null |
Het |
| Samd4b |
A |
T |
7: 28,113,711 (GRCm39) |
S85T |
probably benign |
Het |
| Sfrp5 |
T |
C |
19: 42,187,302 (GRCm39) |
D256G |
possibly damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,365,106 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
G |
6: 143,786,905 (GRCm39) |
I589T |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,546,848 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 75,953,616 (GRCm39) |
E515G |
possibly damaging |
Het |
| Tbc1d17 |
G |
A |
7: 44,495,503 (GRCm39) |
A107V |
probably benign |
Het |
| Tcstv2c |
A |
C |
13: 120,616,290 (GRCm39) |
E43A |
probably damaging |
Het |
| Tex50 |
G |
T |
1: 160,984,817 (GRCm39) |
T141K |
possibly damaging |
Het |
| Tmc7 |
A |
G |
7: 118,144,979 (GRCm39) |
L527P |
probably benign |
Het |
| Tns4 |
T |
A |
11: 98,963,079 (GRCm39) |
D547V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,268,312 (GRCm39) |
S65P |
probably damaging |
Het |
| Trdc |
T |
A |
14: 54,381,692 (GRCm39) |
S126T |
|
Het |
| Ttc27 |
A |
T |
17: 75,024,745 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,083,925 (GRCm39) |
I787S |
probably benign |
Het |
| Zc3h11a |
T |
C |
1: 133,554,768 (GRCm39) |
D404G |
possibly damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,534 (GRCm39) |
I244T |
probably benign |
Het |
| Zfp93 |
A |
G |
7: 23,974,533 (GRCm39) |
T173A |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,495,953 (GRCm39) |
L29F |
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 |
|
|
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 |
|
|
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'- TAAAGTGTGGGAGCCCTCTC -3'
(R):5'- ATGGTCCATGCACTGAGACTTC -3'
Sequencing Primer
(F):5'- TGGAGAGAACATGATCTAGCATCTCC -3'
(R):5'- CTGAGACTTCAGGTGTGCAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation