Incidental Mutation 'R9338:Col11a2'
| ID |
707333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col11a2
|
| Ensembl Gene |
ENSMUSG00000024330 |
| Gene Name |
collagen, type XI, alpha 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R9338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34258411-34285659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34266204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 358
(T358A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122082
(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: T311A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: T311A
| 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: T358A
|
| SMART Domains |
Protein: ENSMUSP00000122082
Gene: ENSMUSG00000024330
AA Change: T358A
| 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: 99.7%
- 20x: 98.8%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adam30 |
G |
A |
3: 98,070,129 (GRCm39) |
G654D |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,225,706 (GRCm39) |
V343A |
probably benign |
Het |
| Cox6a2 |
T |
C |
7: 127,804,914 (GRCm39) |
Y94C |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,386,703 (GRCm39) |
I1521F |
probably damaging |
Het |
| Dclk3 |
C |
A |
9: 111,268,373 (GRCm39) |
A14E |
unknown |
Het |
| Dlgap2 |
T |
C |
8: 14,229,683 (GRCm39) |
|
probably null |
Het |
| Dop1b |
C |
A |
16: 93,600,448 (GRCm39) |
Q2042K |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,525,427 (GRCm39) |
S61G |
probably null |
Het |
| Ext2 |
T |
A |
2: 93,526,603 (GRCm39) |
N678Y |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,863,561 (GRCm39) |
C28* |
probably null |
Het |
| Gon4l |
C |
A |
3: 88,809,019 (GRCm39) |
D1754E |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,004,693 (GRCm39) |
C430* |
probably null |
Het |
| Htr7 |
C |
T |
19: 35,941,780 (GRCm39) |
|
probably null |
Het |
| Idh3b |
A |
T |
2: 130,122,392 (GRCm39) |
M331K |
probably damaging |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,118 (GRCm39) |
F56I |
probably benign |
Het |
| Inpp5k |
C |
T |
11: 75,536,411 (GRCm39) |
H330Y |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,744,058 (GRCm39) |
Y1385H |
probably damaging |
Het |
| Mad1l1 |
A |
G |
5: 140,074,561 (GRCm39) |
L543P |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,666,536 (GRCm39) |
H158L |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,951,249 (GRCm39) |
T511S |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,245 (GRCm39) |
E178G |
possibly damaging |
Het |
| Msh4 |
T |
C |
3: 153,573,444 (GRCm39) |
I737V |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,762,238 (GRCm39) |
L1186P |
|
Het |
| Nckap1l |
A |
G |
15: 103,379,991 (GRCm39) |
T346A |
probably benign |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Npy5r |
T |
C |
8: 67,134,658 (GRCm39) |
N45S |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,610 (GRCm39) |
N81S |
probably benign |
Het |
| Pde6a |
G |
A |
18: 61,354,109 (GRCm39) |
A145T |
probably damaging |
Het |
| Pfkp |
A |
C |
13: 6,634,724 (GRCm39) |
S678A |
probably damaging |
Het |
| Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,227 (GRCm39) |
L942F |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2g4e |
T |
A |
2: 120,019,914 (GRCm39) |
T179S |
probably benign |
Het |
| Popdc2 |
G |
A |
16: 38,194,509 (GRCm39) |
C310Y |
probably benign |
Het |
| Ppip5k1 |
C |
T |
2: 121,153,827 (GRCm39) |
R113Q |
|
Het |
| Prmt7 |
C |
T |
8: 106,961,665 (GRCm39) |
R193C |
unknown |
Het |
| Prph |
G |
C |
15: 98,955,359 (GRCm39) |
R442P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,098,779 (GRCm39) |
Y697C |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,069,143 (GRCm39) |
R962S |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,529,300 (GRCm39) |
S654P |
unknown |
Het |
| Reln |
A |
G |
5: 22,202,937 (GRCm39) |
F1288L |
probably damaging |
Het |
| Rhot1 |
T |
A |
11: 80,145,568 (GRCm39) |
I553N |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,110,801 (GRCm39) |
|
probably null |
Het |
| Slamf6 |
T |
A |
1: 171,747,157 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
10: 121,689,458 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,954,555 (GRCm39) |
P544S |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,427,377 (GRCm39) |
V195A |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,942,399 (GRCm39) |
M59V |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,727,019 (GRCm39) |
S1184P |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,727,925 (GRCm39) |
S549G |
probably benign |
Het |
| Unc5d |
T |
A |
8: 29,709,471 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,308,489 (GRCm39) |
|
probably null |
Het |
| Usp45 |
T |
C |
4: 21,784,755 (GRCm39) |
V147A |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,994 (GRCm39) |
N773K |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,858,977 (GRCm39) |
N2809I |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,032,078 (GRCm39) |
S984R |
possibly damaging |
Het |
| Yeats2 |
T |
A |
16: 20,041,533 (GRCm39) |
L1141Q |
probably damaging |
Het |
| Zfp58 |
T |
A |
13: 67,639,394 (GRCm39) |
T366S |
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 |
|
|
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 |
|
|
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'- TTTTCAAACCCTGGGACCCAT -3'
(R):5'- GGACCAAACAGGAAGTAGCCC -3'
Sequencing Primer
(F):5'- AGGACATCTGCTCTCAGGTCTAATG -3'
(R):5'- AGGAAGTAGCCCACAGCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation