Incidental Mutation 'R6992:Col11a2'
ID |
543936 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col11a2
|
Ensembl Gene |
ENSMUSG00000024330 |
Gene Name |
collagen, type XI, alpha 2 |
Synonyms |
|
MMRRC Submission |
045098-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R6992 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34266118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 282
(A282V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087497]
[ENSMUST00000114252]
[ENSMUST00000114255]
[ENSMUST00000131134]
[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
AA Change: A282V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000109893 Gene: ENSMUSG00000024330 AA Change: A282V
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: A329V
|
SMART Domains |
Protein: ENSMUSP00000122082 Gene: ENSMUSG00000024330 AA Change: A329V
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 |
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 |
|
Meta Mutation Damage Score |
0.1047 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (64/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,099,990 (GRCm39) |
S171N |
possibly damaging |
Het |
6030468B19Rik |
T |
G |
11: 117,688,594 (GRCm39) |
M1R |
probably null |
Het |
A730049H05Rik |
T |
C |
6: 92,804,975 (GRCm39) |
|
probably benign |
Het |
AC125199.3 |
G |
T |
16: 88,608,915 (GRCm39) |
H52Q |
possibly damaging |
Het |
Adam34 |
A |
T |
8: 44,105,642 (GRCm39) |
M1K |
probably null |
Het |
Adgrf5 |
T |
C |
17: 43,763,214 (GRCm39) |
|
probably null |
Het |
Antxr2 |
T |
C |
5: 98,108,564 (GRCm39) |
T316A |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,861,542 (GRCm39) |
V714D |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,870,087 (GRCm39) |
S461P |
possibly damaging |
Het |
Cdc16 |
C |
A |
8: 13,809,188 (GRCm39) |
A51E |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,091,339 (GRCm39) |
D1243E |
probably benign |
Het |
Cntf |
A |
T |
19: 12,742,697 (GRCm39) |
I21N |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,274,958 (GRCm39) |
|
probably null |
Het |
Cyp2b9 |
T |
C |
7: 25,900,564 (GRCm39) |
Y401H |
probably benign |
Het |
Dlgap4 |
A |
G |
2: 156,590,860 (GRCm39) |
|
probably null |
Het |
Fancd2 |
T |
C |
6: 113,547,979 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,608 (GRCm39) |
F474I |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,858,599 (GRCm39) |
V1622A |
possibly damaging |
Het |
Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
Gstm4 |
A |
G |
3: 107,951,981 (GRCm39) |
M3T |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,009,534 (GRCm39) |
D466G |
probably benign |
Het |
Hook2 |
A |
G |
8: 85,729,185 (GRCm39) |
E625G |
probably damaging |
Het |
Hspbp1 |
G |
C |
7: 4,667,714 (GRCm39) |
P260A |
probably benign |
Het |
Igdcc3 |
C |
A |
9: 65,088,853 (GRCm39) |
Q411K |
probably damaging |
Het |
Il18rap |
G |
A |
1: 40,581,195 (GRCm39) |
E356K |
probably benign |
Het |
Inpp4a |
A |
T |
1: 37,428,772 (GRCm39) |
M699L |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,300,531 (GRCm39) |
H157R |
probably damaging |
Het |
Klhl6 |
G |
T |
16: 19,772,337 (GRCm39) |
T336N |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,059,428 (GRCm39) |
|
probably null |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mlh3 |
T |
A |
12: 85,282,494 (GRCm39) |
N1412Y |
probably damaging |
Het |
Mrps27 |
A |
G |
13: 99,541,522 (GRCm39) |
M209V |
probably benign |
Het |
Mtor |
A |
T |
4: 148,548,932 (GRCm39) |
T572S |
probably benign |
Het |
Neurog1 |
T |
C |
13: 56,399,363 (GRCm39) |
K128R |
probably damaging |
Het |
Or10g6 |
T |
A |
9: 39,933,896 (GRCm39) |
L69* |
probably null |
Het |
Or2b4 |
T |
A |
17: 38,116,754 (GRCm39) |
N239K |
probably damaging |
Het |
Or5b122 |
A |
G |
19: 13,562,811 (GRCm39) |
I48V |
possibly damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,814,652 (GRCm39) |
K381R |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,457,945 (GRCm39) |
D306G |
probably damaging |
Het |
Plekha5 |
C |
T |
6: 140,489,634 (GRCm39) |
T237I |
probably damaging |
Het |
Plscr1l1 |
T |
C |
9: 92,236,725 (GRCm39) |
M128T |
probably benign |
Het |
Pole |
A |
T |
5: 110,480,365 (GRCm39) |
I103F |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,310,715 (GRCm39) |
Q74L |
possibly damaging |
Het |
Ppm1d |
T |
C |
11: 85,223,178 (GRCm39) |
F261S |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,388,668 (GRCm39) |
|
probably null |
Het |
Ptprg |
T |
A |
14: 11,962,602 (GRCm38) |
F133L |
probably damaging |
Het |
Rom1 |
G |
A |
19: 8,906,569 (GRCm39) |
|
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,412,489 (GRCm39) |
F762L |
probably damaging |
Het |
Sec23ip |
T |
C |
7: 128,367,164 (GRCm39) |
S600P |
probably benign |
Het |
Sema4b |
T |
A |
7: 79,869,900 (GRCm39) |
I396N |
probably damaging |
Het |
Serpina3k |
T |
A |
12: 104,307,366 (GRCm39) |
D199E |
probably benign |
Het |
Slc19a1 |
A |
G |
10: 76,885,540 (GRCm39) |
D480G |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,665,880 (GRCm39) |
V404M |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,765,330 (GRCm39) |
D304G |
probably benign |
Het |
Smpdl3b |
G |
T |
4: 132,472,452 (GRCm39) |
A107D |
possibly damaging |
Het |
Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,937,940 (GRCm39) |
F203L |
probably benign |
Het |
Tnip1 |
T |
A |
11: 54,809,542 (GRCm39) |
I442F |
probably benign |
Het |
Txnip |
A |
G |
3: 96,466,439 (GRCm39) |
K127R |
possibly damaging |
Het |
Usp32 |
A |
C |
11: 84,922,914 (GRCm39) |
L172R |
probably damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,654,436 (GRCm39) |
S508P |
possibly damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,416,952 (GRCm39) |
Y550N |
probably damaging |
Het |
Wdr81 |
G |
A |
11: 75,342,612 (GRCm39) |
A885V |
probably benign |
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 |
|
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'- GGTCAGTAGTCATCCCGTTTCC -3'
(R):5'- CCTGATGGCAAAGGATGGAC -3'
Sequencing Primer
(F):5'- CCTTGGGGAAGAACACCC -3'
(R):5'- ATGGACCAGGAGCTGCTTC -3'
|
Posted On |
2019-05-13 |