Incidental Mutation 'R0919:Col11a2'
| ID |
82797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col11a2
|
| Ensembl Gene |
ENSMUSG00000024330 |
| Gene Name |
collagen, type XI, alpha 2 |
| Synonyms |
|
| MMRRC Submission |
039069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R0919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34278124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1032
(V1032E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087497]
[ENSMUST00000114252]
[ENSMUST00000114255]
[ENSMUST00000143354]
|
| AlphaFold |
Q64739 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087497
AA Change: V993E
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: V993E
| 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: V998E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: V998E
| 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 |
possibly damaging
Transcript: ENSMUST00000114255
AA Change: V1032E
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: V1032E
| 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 |
possibly damaging
Transcript: ENSMUST00000143354
AA Change: V685E
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115026
Gene: ENSMUSG00000024330
AA Change: V685E
| 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
|
| Meta Mutation Damage Score |
0.0873 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
96% (43/45) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
| Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
| Cfap70 |
G |
A |
14: 20,454,232 (GRCm39) |
P851S |
probably benign |
Het |
| Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
| Cyp2c38 |
T |
G |
19: 39,393,113 (GRCm39) |
D318A |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
| Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
| Or5m3 |
A |
G |
2: 85,838,984 (GRCm39) |
Y288C |
possibly damaging |
Het |
| Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
| Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
| Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,247,395 (GRCm39) |
L906S |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,582,382 (GRCm39) |
L676P |
probably benign |
Het |
| Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,158 (GRCm39) |
L305Q |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,949,223 (GRCm39) |
Y232C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,095 (GRCm39) |
I414V |
probably damaging |
Het |
| Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
| Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
| U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
| Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
| Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
| Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
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 |
|
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'- TGTGACCTGAGGAGTAATGGCTACC -3'
(R):5'- TGTGGAAAGCCAGAGACACTCACC -3'
Sequencing Primer
(F):5'- GCTACCAAGGTGTTTTTGGG -3'
(R):5'- TCAGCGTCGTGGATACTTAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation