Incidental Mutation 'R6327:Col11a2'
ID |
510491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col11a2
|
Ensembl Gene |
ENSMUSG00000024330 |
Gene Name |
collagen, type XI, alpha 2 |
Synonyms |
|
MMRRC Submission |
044481-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R6327 (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 34262291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 176
(P176L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044858]
[ENSMUST00000087497]
[ENSMUST00000114252]
[ENSMUST00000114255]
[ENSMUST00000116612]
[ENSMUST00000131134]
[ENSMUST00000143354]
|
AlphaFold |
Q64739 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044858
|
SMART Domains |
Protein: ENSMUSP00000036585 Gene: ENSMUSG00000039656
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
85 |
N/A |
INTRINSIC |
low complexity region
|
94 |
121 |
N/A |
INTRINSIC |
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
low complexity region
|
179 |
186 |
N/A |
INTRINSIC |
ZnF_C4
|
189 |
260 |
3.98e-39 |
SMART |
low complexity region
|
269 |
282 |
N/A |
INTRINSIC |
low complexity region
|
305 |
316 |
N/A |
INTRINSIC |
HOLI
|
328 |
491 |
1.91e-50 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000087497
AA Change: P176L
|
SMART Domains |
Protein: ENSMUSP00000084772 Gene: ENSMUSG00000024330 AA Change: P176L
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: P176L
|
SMART Domains |
Protein: ENSMUSP00000109890 Gene: ENSMUSG00000024330 AA Change: P176L
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: P176L
|
SMART Domains |
Protein: ENSMUSP00000109893 Gene: ENSMUSG00000024330 AA Change: P176L
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: ENSMUST00000116612
|
SMART Domains |
Protein: ENSMUSP00000112311 Gene: ENSMUSG00000039656
Domain | Start | End | E-Value | Type |
Pfam:Nuc_recep-AF1
|
2 |
76 |
4.3e-10 |
PFAM |
ZnF_C4
|
79 |
150 |
3.98e-39 |
SMART |
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
HOLI
|
218 |
377 |
1.35e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131134
AA Change: P176L
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000122082 Gene: ENSMUSG00000024330 AA Change: P176L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (43/43) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,535,655 (GRCm39) |
|
probably null |
Het |
Birc6 |
C |
A |
17: 74,969,774 (GRCm39) |
H383Q |
probably damaging |
Het |
C2 |
C |
A |
17: 35,083,079 (GRCm39) |
A431S |
probably benign |
Het |
C3ar1 |
C |
T |
6: 122,827,105 (GRCm39) |
V371M |
probably damaging |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Ckap2l |
A |
G |
2: 129,127,414 (GRCm39) |
S255P |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,436,558 (GRCm39) |
I842F |
probably benign |
Het |
Cmc2 |
G |
T |
8: 117,620,896 (GRCm39) |
H28Q |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,744,783 (GRCm39) |
D1404G |
probably damaging |
Het |
Dld |
G |
A |
12: 31,382,190 (GRCm39) |
P506S |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,672,927 (GRCm39) |
M866T |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,348,375 (GRCm39) |
I451T |
possibly damaging |
Het |
Fosb |
T |
C |
7: 19,041,152 (GRCm39) |
T114A |
probably benign |
Het |
Foxd4 |
T |
A |
19: 24,878,198 (GRCm39) |
M1L |
possibly damaging |
Het |
Fstl5 |
T |
A |
3: 76,615,108 (GRCm39) |
I723N |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Hdlbp |
A |
G |
1: 93,357,186 (GRCm39) |
S299P |
possibly damaging |
Het |
Mast4 |
G |
A |
13: 102,897,890 (GRCm39) |
R650C |
probably damaging |
Het |
Micu3 |
A |
G |
8: 40,819,238 (GRCm39) |
T306A |
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,755,613 (GRCm39) |
Q259R |
possibly damaging |
Het |
Nfkbiz |
T |
C |
16: 55,642,325 (GRCm39) |
N31S |
probably damaging |
Het |
Nisch |
A |
T |
14: 30,893,444 (GRCm39) |
|
probably benign |
Het |
Nudt17 |
T |
C |
3: 96,615,080 (GRCm39) |
|
probably benign |
Het |
Oprm1 |
A |
C |
10: 6,780,063 (GRCm39) |
I242L |
probably damaging |
Het |
Or13a26 |
T |
C |
7: 140,284,616 (GRCm39) |
W151R |
probably damaging |
Het |
Or14c39 |
T |
C |
7: 86,343,760 (GRCm39) |
V32A |
probably benign |
Het |
Or2y1d |
A |
C |
11: 49,321,828 (GRCm39) |
H175P |
probably damaging |
Het |
Otud6b |
A |
G |
4: 14,826,496 (GRCm39) |
|
probably benign |
Het |
Pamr1 |
A |
T |
2: 102,472,519 (GRCm39) |
D606V |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,308,817 (GRCm39) |
|
probably benign |
Het |
Pom121l2 |
T |
C |
13: 22,166,502 (GRCm39) |
S258P |
probably damaging |
Het |
Rcsd1 |
T |
A |
1: 165,483,403 (GRCm39) |
D196V |
possibly damaging |
Het |
Sbf2 |
C |
T |
7: 110,040,759 (GRCm39) |
R356Q |
probably damaging |
Het |
Serpinf1 |
A |
G |
11: 75,304,731 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
T |
G |
19: 8,313,086 (GRCm39) |
|
probably benign |
Het |
Strn4 |
G |
T |
7: 16,550,384 (GRCm39) |
S36I |
probably benign |
Het |
Taar6 |
A |
G |
10: 23,861,177 (GRCm39) |
L123P |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,943,137 (GRCm39) |
R5L |
unknown |
Het |
Timp3 |
T |
C |
10: 86,181,650 (GRCm39) |
Y174H |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,768,061 (GRCm39) |
V813M |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vcan |
A |
T |
13: 89,852,951 (GRCm39) |
S670T |
probably damaging |
Het |
Vmn1r65 |
A |
T |
7: 6,011,651 (GRCm39) |
N194K |
possibly 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 |
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'- GCCAAGCCTTTTACTTGCTGTG -3'
(R):5'- GCTGTCCACTGAGAAAACCC -3'
Sequencing Primer
(F):5'- TTACTTGCTGTGGCCCAG -3'
(R):5'- CCCACCCTGAAGACAAATGG -3'
|
Posted On |
2018-04-02 |