Incidental Mutation 'R5860:Col11a2'
ID |
453873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col11a2
|
Ensembl Gene |
ENSMUSG00000024330 |
Gene Name |
collagen, type XI, alpha 2 |
Synonyms |
|
MMRRC Submission |
044072-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R5860 (G1)
|
Quality Score |
154 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 34283159 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 |
unknown
Transcript: ENSMUST00000087497
AA Change: D1462E
|
SMART Domains |
Protein: ENSMUSP00000084772 Gene: ENSMUSG00000024330 AA Change: D1462E
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 |
unknown
Transcript: ENSMUST00000114252
AA Change: D1467E
|
SMART Domains |
Protein: ENSMUSP00000109890 Gene: ENSMUSG00000024330 AA Change: D1467E
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 |
unknown
Transcript: ENSMUST00000114255
AA Change: D1501E
|
SMART Domains |
Protein: ENSMUSP00000109893 Gene: ENSMUSG00000024330 AA Change: D1501E
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: 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
|
Meta Mutation Damage Score |
0.0599 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.8%
|
Validation Efficiency |
97% (75/77) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568A12Rik |
A |
G |
1: 34,524,661 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
T |
C |
6: 128,518,024 (GRCm39) |
T1421A |
probably benign |
Het |
Actr8 |
T |
A |
14: 29,708,242 (GRCm39) |
Y150* |
probably null |
Het |
Adamts1 |
A |
G |
16: 85,595,432 (GRCm39) |
C249R |
probably damaging |
Het |
Adgre1 |
T |
A |
17: 57,752,034 (GRCm39) |
I594N |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,669,344 (GRCm39) |
L119H |
probably damaging |
Het |
Atf6 |
G |
A |
1: 170,669,345 (GRCm39) |
L119F |
possibly damaging |
Het |
B3gat2 |
G |
A |
1: 23,854,400 (GRCm39) |
W33* |
probably null |
Het |
Bach2 |
A |
G |
4: 32,580,268 (GRCm39) |
D831G |
probably damaging |
Het |
Ccnk |
A |
T |
12: 108,153,466 (GRCm39) |
I76F |
probably damaging |
Het |
Cdyl |
A |
C |
13: 36,042,066 (GRCm39) |
K368T |
possibly damaging |
Het |
Chi3l1 |
A |
G |
1: 134,112,909 (GRCm39) |
T114A |
probably benign |
Het |
Cnppd1 |
A |
G |
1: 75,113,131 (GRCm39) |
V379A |
probably benign |
Het |
Creb3l1 |
T |
C |
2: 91,854,399 (GRCm39) |
S18G |
probably benign |
Het |
Crybg3 |
A |
C |
16: 59,385,632 (GRCm39) |
D197E |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,527 (GRCm39) |
|
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,950,080 (GRCm39) |
C146R |
probably damaging |
Het |
Cyp2c39 |
A |
T |
19: 39,525,270 (GRCm39) |
D191V |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,421,242 (GRCm39) |
A393T |
probably damaging |
Het |
Dhx30 |
G |
A |
9: 109,913,645 (GRCm39) |
T1126I |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,206,562 (GRCm39) |
G1345R |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,228,081 (GRCm39) |
E425G |
probably damaging |
Het |
Dynlt2b |
A |
G |
16: 32,247,614 (GRCm39) |
Y143C |
probably damaging |
Het |
Exosc8 |
C |
T |
3: 54,642,463 (GRCm39) |
|
probably benign |
Het |
Fat1 |
C |
T |
8: 45,504,166 (GRCm39) |
A4553V |
probably benign |
Het |
Flnb |
T |
A |
14: 7,931,135 (GRCm38) |
L2119Q |
probably damaging |
Het |
Fnbp4 |
T |
A |
2: 90,587,826 (GRCm39) |
D401E |
probably benign |
Het |
Glyctk |
T |
C |
9: 106,032,906 (GRCm39) |
E369G |
possibly damaging |
Het |
Gm14149 |
C |
A |
2: 151,066,225 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
T |
C |
9: 118,387,174 (GRCm39) |
L1432P |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,023,196 (GRCm39) |
S623T |
probably benign |
Het |
Insc |
A |
C |
7: 114,390,383 (GRCm39) |
S85R |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,821,496 (GRCm39) |
R126H |
probably damaging |
Het |
M1ap |
T |
A |
6: 82,980,795 (GRCm39) |
L227Q |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,067,187 (GRCm39) |
I569T |
probably damaging |
Het |
Mbd1 |
C |
A |
18: 74,409,768 (GRCm39) |
C339* |
probably null |
Het |
Moxd2 |
T |
A |
6: 40,857,341 (GRCm39) |
Y473F |
probably damaging |
Het |
Mrgpra6 |
T |
C |
7: 46,839,099 (GRCm39) |
H2R |
probably benign |
Het |
Mtus1 |
T |
G |
8: 41,529,303 (GRCm39) |
L742F |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,270,160 (GRCm39) |
Y21H |
probably benign |
Het |
Notch4 |
G |
T |
17: 34,801,392 (GRCm39) |
C1080F |
probably damaging |
Het |
Nsd3 |
C |
A |
8: 26,156,107 (GRCm39) |
P558Q |
probably damaging |
Het |
Oas1e |
A |
T |
5: 120,930,015 (GRCm39) |
S168T |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,234,285 (GRCm39) |
S119P |
probably damaging |
Het |
Or2y15 |
A |
G |
11: 49,350,563 (GRCm39) |
D19G |
probably damaging |
Het |
Or8g20 |
T |
A |
9: 39,395,767 (GRCm39) |
M261L |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,631,504 (GRCm39) |
I1135T |
possibly damaging |
Het |
Prex1 |
G |
A |
2: 166,486,604 (GRCm39) |
|
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,486 (GRCm39) |
|
probably benign |
Het |
Rapsn |
T |
C |
2: 90,875,859 (GRCm39) |
V359A |
probably damaging |
Het |
Ric1 |
A |
G |
19: 29,577,245 (GRCm39) |
S1050G |
possibly damaging |
Het |
Rnft2 |
A |
G |
5: 118,366,868 (GRCm39) |
I290T |
possibly damaging |
Het |
Senp7 |
C |
A |
16: 55,975,722 (GRCm39) |
A476E |
possibly damaging |
Het |
Serpinh1 |
G |
A |
7: 98,995,571 (GRCm39) |
S337L |
probably damaging |
Het |
Slc5a12 |
C |
A |
2: 110,427,969 (GRCm39) |
A8D |
probably benign |
Het |
Smg5 |
T |
A |
3: 88,250,214 (GRCm39) |
C109S |
probably damaging |
Het |
Speer4b |
T |
C |
5: 27,705,226 (GRCm39) |
H49R |
possibly damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,664 (GRCm39) |
I89V |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,648,399 (GRCm39) |
|
probably null |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Tpgs1 |
G |
A |
10: 79,505,545 (GRCm39) |
G101D |
probably damaging |
Het |
Trim13 |
T |
G |
14: 61,842,188 (GRCm39) |
S68R |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,620,053 (GRCm39) |
N1577S |
|
Het |
Vwf |
G |
T |
6: 125,656,228 (GRCm39) |
|
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,207,868 (GRCm39) |
|
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
Zftraf1 |
T |
C |
15: 76,540,615 (GRCm39) |
Y101C |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
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'- TCACTGGGACCTCACTGTAC -3'
(R):5'- ACTCGTGTTCACAGGCAGAG -3'
Sequencing Primer
(F):5'- GGGACCTCACTGTACCCTCC -3'
(R):5'- TTGGCTGCTAGGACCCTGAAG -3'
|
Posted On |
2017-02-10 |