Incidental Mutation 'R1945:Col11a2'
| ID |
216625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col11a2
|
| Ensembl Gene |
ENSMUSG00000024330 |
| Gene Name |
collagen, type XI, alpha 2 |
| Synonyms |
|
| MMRRC Submission |
039963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R1945 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34278142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 691
(D691V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087497]
[ENSMUST00000114252]
[ENSMUST00000114255]
[ENSMUST00000143354]
|
| AlphaFold |
Q64739 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087497
AA Change: D999V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: D999V
| 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: D1004V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: D1004V
| 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: D1038V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: D1038V
| 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 damaging
Transcript: ENSMUST00000143354
AA Change: D691V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115026
Gene: ENSMUSG00000024330
AA Change: D691V
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,653,549 (GRCm39) |
I33V |
unknown |
Het |
| Abca1 |
ACGTCTTCACCAGGTAATC |
AC |
4: 53,061,509 (GRCm39) |
|
probably null |
Het |
| Amotl2 |
T |
C |
9: 102,597,753 (GRCm39) |
S171P |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,005,940 (GRCm39) |
E585V |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,682,710 (GRCm39) |
V34E |
probably benign |
Het |
| Atrip |
T |
A |
9: 108,900,935 (GRCm39) |
I135F |
probably damaging |
Het |
| Bglap |
A |
G |
3: 88,290,971 (GRCm39) |
Y87H |
probably damaging |
Het |
| Camk2n1 |
G |
A |
4: 138,184,094 (GRCm39) |
V78I |
possibly damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,520,835 (GRCm39) |
I46V |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,367,704 (GRCm39) |
Y208C |
probably damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,265,567 (GRCm39) |
R1455Q |
probably damaging |
Het |
| Cep170 |
C |
A |
1: 176,621,100 (GRCm39) |
G26* |
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,259,819 (GRCm39) |
F217S |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,789,078 (GRCm39) |
V798I |
unknown |
Het |
| Coq8b |
CGCA |
CGCAGCA |
7: 26,933,405 (GRCm39) |
|
probably benign |
Het |
| Coq8b |
GCA |
GCAACA |
7: 26,933,406 (GRCm39) |
|
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,385,468 (GRCm39) |
D886G |
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,312,776 (GRCm39) |
S202P |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,897,233 (GRCm39) |
C295R |
probably damaging |
Het |
| Ghdc |
C |
T |
11: 100,660,031 (GRCm39) |
A239T |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,432,300 (GRCm39) |
D899G |
possibly damaging |
Het |
| Hacd2 |
C |
A |
16: 34,922,354 (GRCm39) |
T181K |
possibly damaging |
Het |
| Havcr2 |
T |
C |
11: 46,345,877 (GRCm39) |
L17P |
unknown |
Het |
| Herc3 |
T |
C |
6: 58,864,424 (GRCm39) |
V686A |
probably damaging |
Het |
| Hyal3 |
T |
C |
9: 107,462,671 (GRCm39) |
L235P |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,884,279 (GRCm39) |
Q988* |
probably null |
Het |
| Itprid2 |
T |
C |
2: 79,492,996 (GRCm39) |
V1181A |
probably benign |
Het |
| Krt32 |
T |
A |
11: 99,975,670 (GRCm39) |
|
probably null |
Het |
| Krt33a |
T |
C |
11: 99,903,535 (GRCm39) |
N199S |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,052,848 (GRCm39) |
S394T |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,222,545 (GRCm39) |
V243A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,492,504 (GRCm39) |
Y1315C |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,384,453 (GRCm39) |
L1148* |
probably null |
Het |
| Mill2 |
A |
G |
7: 18,575,419 (GRCm39) |
H42R |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,392,909 (GRCm39) |
F2194L |
probably damaging |
Het |
| Myo15b |
A |
T |
11: 115,769,224 (GRCm39) |
I1472F |
probably damaging |
Het |
| Nasp |
T |
C |
4: 116,479,965 (GRCm39) |
S36G |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,620 (GRCm39) |
Y868C |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,571,979 (GRCm39) |
I308T |
probably damaging |
Het |
| Nono |
T |
C |
X: 100,485,429 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
A |
11: 6,164,588 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,175,199 (GRCm39) |
W592* |
probably null |
Het |
| Nsg2 |
T |
C |
11: 32,005,068 (GRCm39) |
V90A |
probably damaging |
Het |
| Odf4 |
T |
C |
11: 68,812,983 (GRCm39) |
N225S |
possibly damaging |
Het |
| Oosp2 |
C |
T |
19: 11,626,959 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
T |
C |
2: 36,343,043 (GRCm39) |
W149R |
probably damaging |
Het |
| Or4c123 |
T |
C |
2: 89,127,128 (GRCm39) |
Y162C |
probably damaging |
Het |
| Pcdhb4 |
A |
T |
18: 37,441,921 (GRCm39) |
R410S |
probably damaging |
Het |
| Pde6c |
T |
A |
19: 38,145,967 (GRCm39) |
D418E |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,262,776 (GRCm39) |
S799T |
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,012,185 (GRCm39) |
N198S |
probably damaging |
Het |
| Psmb3 |
T |
C |
11: 97,601,981 (GRCm39) |
F117S |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,418,249 (GRCm39) |
M1709K |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,819,123 (GRCm39) |
R148* |
probably null |
Het |
| Reep3 |
A |
G |
10: 66,871,678 (GRCm39) |
S97P |
probably damaging |
Het |
| Rnase12 |
T |
A |
14: 51,294,463 (GRCm39) |
Q72L |
possibly damaging |
Het |
| Scd3 |
T |
C |
19: 44,224,219 (GRCm39) |
Y151H |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,520,520 (GRCm39) |
S127T |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,506,324 (GRCm39) |
W1522R |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 55,944,309 (GRCm39) |
H211R |
probably damaging |
Het |
| Septin10 |
C |
T |
10: 59,016,841 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
T |
C |
13: 33,851,663 (GRCm39) |
V140A |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,198,960 (GRCm39) |
E457G |
probably benign |
Het |
| Spag17 |
A |
C |
3: 99,847,298 (GRCm39) |
M76L |
probably benign |
Het |
| Spata31e2 |
C |
A |
1: 26,721,395 (GRCm39) |
V1262F |
probably benign |
Het |
| Spata31e3 |
C |
T |
13: 50,399,527 (GRCm39) |
G933E |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,466,707 (GRCm39) |
E105V |
possibly damaging |
Het |
| Stoml3 |
T |
A |
3: 53,412,866 (GRCm39) |
D173E |
possibly damaging |
Het |
| Sun3 |
T |
C |
11: 8,988,296 (GRCm39) |
I9V |
probably benign |
Het |
| Svil |
T |
C |
18: 5,117,059 (GRCm39) |
W2165R |
probably damaging |
Het |
| Tbl2 |
T |
A |
5: 135,186,454 (GRCm39) |
S184T |
possibly damaging |
Het |
| Tdrd7 |
A |
T |
4: 45,965,474 (GRCm39) |
T31S |
probably benign |
Het |
| Tmeff1 |
A |
G |
4: 48,614,960 (GRCm39) |
N139S |
possibly damaging |
Het |
| Trip13 |
T |
C |
13: 74,076,043 (GRCm39) |
R199G |
probably damaging |
Het |
| Tshb |
G |
T |
3: 102,684,831 (GRCm39) |
Y124* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,560,366 (GRCm39) |
E29345G |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,223 (GRCm39) |
S620T |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,497,540 (GRCm39) |
G353R |
probably damaging |
Het |
| Vipr1 |
G |
T |
9: 121,497,541 (GRCm39) |
G353V |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,793,558 (GRCm39) |
D437V |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,062,192 (GRCm39) |
S240T |
probably damaging |
Het |
| Zfp772 |
A |
G |
7: 7,206,629 (GRCm39) |
I354T |
probably benign |
Het |
| Zfp959 |
T |
A |
17: 56,204,231 (GRCm39) |
Y86* |
probably null |
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 |
|
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'- CCTGAGGAGTAATGGCTACCAAG -3'
(R):5'- CAGCGTCGTGGATACTTACATG -3'
Sequencing Primer
(F):5'- AATGGCTACCAAGGTGTTTTTG -3'
(R):5'- GCGTCGTGGATACTTACATGTTCAC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation