Incidental Mutation 'R7201:Col11a1'
| ID |
560279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col11a1
|
| Ensembl Gene |
ENSMUSG00000027966 |
| Gene Name |
collagen, type XI, alpha 1 |
| Synonyms |
C530001D20Rik |
| MMRRC Submission |
045279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R7201 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
113824189-114014367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 113883806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 225
(T225K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092155]
[ENSMUST00000123619]
|
| AlphaFold |
Q61245 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000092155
AA Change: T225K
|
| SMART Domains |
Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: T225K
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
37 |
228 |
1.83e-62 |
SMART |
|
LamG
|
96 |
227 |
5.87e-11 |
SMART |
|
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
357 |
431 |
3.12e-6 |
PROSPERO |
|
Pfam:Collagen
|
433 |
491 |
2.6e-9 |
PFAM |
|
Pfam:Collagen
|
525 |
586 |
5.9e-9 |
PFAM |
|
low complexity region
|
611 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
677 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
721 |
805 |
3.6e-8 |
PFAM |
|
internal_repeat_3
|
814 |
854 |
3.55e-9 |
PROSPERO |
|
internal_repeat_1
|
818 |
869 |
2.01e-16 |
PROSPERO |
|
low complexity region
|
872 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1066 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1121 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1124 |
1188 |
2.4e-12 |
PROSPERO |
|
low complexity region
|
1189 |
1205 |
N/A |
INTRINSIC |
|
low complexity region
|
1211 |
1232 |
N/A |
INTRINSIC |
|
low complexity region
|
1235 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1252 |
1368 |
N/A |
INTRINSIC |
|
low complexity region
|
1373 |
1392 |
N/A |
INTRINSIC |
|
low complexity region
|
1417 |
1448 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1463 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1481 |
1543 |
8.3e-9 |
PFAM |
|
COLFI
|
1574 |
1803 |
7.28e-127 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121027
Gene: ENSMUSG00000027966
AA Change: T225K
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
37 |
228 |
1.83e-62 |
SMART |
|
LamG
|
96 |
227 |
5.87e-11 |
SMART |
|
low complexity region
|
259 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
446 |
503 |
6.9e-10 |
PFAM |
|
low complexity region
|
521 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
566 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
99% (80/81) |
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-1 subunit of type XI collagen, one of the low abundance fibrillar collagens that is essential for normal embryonic skeletal development and the cohesive properties of cartilage. The encoded protein, in association with the alpha-1 subunit of type II collagen, forms a heterotrimeric type XI procollagen that undergoes proteolytic processing. Mice lacking the encoded protein develop severe chondrodysplasia and die at birth. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,153,300 (GRCm39) |
T903A |
probably benign |
Het |
| Acin1 |
A |
T |
14: 54,902,356 (GRCm39) |
S479T |
possibly damaging |
Het |
| Actr6 |
A |
T |
10: 89,548,374 (GRCm39) |
D370E |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,872,069 (GRCm39) |
F921S |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,814,546 (GRCm39) |
H320Q |
possibly damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,250,166 (GRCm39) |
Q306* |
probably null |
Het |
| Art4 |
A |
T |
6: 136,831,547 (GRCm39) |
V198E |
probably benign |
Het |
| Asph |
G |
A |
4: 9,474,917 (GRCm39) |
R686W |
probably damaging |
Het |
| Atg7 |
A |
G |
6: 114,754,018 (GRCm39) |
H724R |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,680 (GRCm39) |
V146A |
probably damaging |
Het |
| Bcl2a1d |
T |
A |
9: 88,613,639 (GRCm39) |
Q45L |
probably damaging |
Het |
| Bmal1 |
T |
A |
7: 112,884,349 (GRCm39) |
M122K |
probably damaging |
Het |
| Cd28 |
G |
T |
1: 60,802,332 (GRCm39) |
E84* |
probably null |
Het |
| Ceacam3 |
G |
A |
7: 16,892,163 (GRCm39) |
W302* |
probably null |
Het |
| Cerkl |
T |
C |
2: 79,163,934 (GRCm39) |
N462S |
probably benign |
Het |
| Cisd2 |
A |
T |
3: 135,116,974 (GRCm39) |
L39H |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,307,752 (GRCm39) |
Y1178F |
possibly damaging |
Het |
| Cul4a |
T |
C |
8: 13,192,991 (GRCm39) |
S630P |
probably damaging |
Het |
| Cyp2c38 |
T |
A |
19: 39,390,220 (GRCm39) |
I327F |
probably damaging |
Het |
| Cyp3a25 |
A |
C |
5: 145,928,257 (GRCm39) |
S263A |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,939,868 (GRCm39) |
L46F |
probably benign |
Het |
| Dmrta1 |
T |
A |
4: 89,580,408 (GRCm39) |
L456* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,536,579 (GRCm39) |
L2165P |
probably benign |
Het |
| Dsg1a |
C |
A |
18: 20,461,368 (GRCm39) |
S253R |
probably damaging |
Het |
| Egln2 |
A |
C |
7: 26,859,744 (GRCm39) |
I323S |
probably damaging |
Het |
| Fam171b |
A |
G |
2: 83,708,574 (GRCm39) |
T359A |
probably damaging |
Het |
| Fcgr2b |
G |
T |
1: 170,790,966 (GRCm39) |
Q276K |
probably benign |
Het |
| Fcrl2 |
C |
T |
3: 87,159,934 (GRCm39) |
C440Y |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,963,666 (GRCm39) |
V266A |
unknown |
Het |
| Glo1 |
A |
T |
17: 30,816,828 (GRCm39) |
D109E |
probably benign |
Het |
| Grin3b |
A |
G |
10: 79,809,912 (GRCm39) |
R473G |
possibly damaging |
Het |
| Ica1 |
G |
A |
6: 8,644,015 (GRCm39) |
L425F |
probably damaging |
Het |
| Iho1 |
A |
T |
9: 108,281,974 (GRCm39) |
D571E |
probably damaging |
Het |
| Ilrun |
A |
C |
17: 28,013,044 (GRCm39) |
|
probably null |
Het |
| Kcnq5 |
T |
C |
1: 21,473,099 (GRCm39) |
E716G |
possibly damaging |
Het |
| Klra17 |
A |
T |
6: 129,850,306 (GRCm39) |
I48K |
possibly damaging |
Het |
| Lrrc66 |
G |
T |
5: 73,787,240 (GRCm39) |
Q37K |
probably benign |
Het |
| Ly6a |
T |
A |
15: 74,868,325 (GRCm39) |
T55S |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,883,885 (GRCm39) |
Y2924* |
probably null |
Het |
| Lyzl6 |
A |
G |
11: 103,522,177 (GRCm39) |
Y140H |
probably benign |
Het |
| Mak |
T |
C |
13: 41,204,916 (GRCm39) |
I141V |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,379,998 (GRCm39) |
I789T |
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,206 (GRCm39) |
D326G |
possibly damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,918,634 (GRCm39) |
I123T |
probably benign |
Het |
| Mup18 |
G |
C |
4: 61,591,573 (GRCm39) |
|
probably null |
Het |
| Myef2 |
T |
C |
2: 124,938,082 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,228,402 (GRCm39) |
T235A |
possibly damaging |
Het |
| Myo18b |
C |
T |
5: 112,863,325 (GRCm39) |
C2171Y |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,877 (GRCm39) |
Y85* |
probably null |
Het |
| Nyap1 |
A |
T |
5: 137,734,524 (GRCm39) |
S170T |
probably damaging |
Het |
| Ogfr |
AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,887 (GRCm39) |
|
probably benign |
Het |
| Or10ah1-ps1 |
A |
G |
5: 143,123,553 (GRCm39) |
Y157H |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,167 (GRCm39) |
V247A |
probably benign |
Het |
| Or51a25 |
T |
A |
7: 102,373,692 (GRCm39) |
I2F |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,305,687 (GRCm39) |
L244P |
probably damaging |
Het |
| Pibf1 |
A |
T |
14: 99,433,844 (GRCm39) |
D597V |
probably damaging |
Het |
| Pmpcb |
T |
A |
5: 21,942,177 (GRCm39) |
M1K |
probably null |
Het |
| Ppwd1 |
G |
A |
13: 104,343,680 (GRCm39) |
P575L |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,695,338 (GRCm39) |
|
probably null |
Het |
| Prc1 |
A |
G |
7: 79,960,837 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,227,602 (GRCm39) |
V69A |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,516,667 (GRCm39) |
I1014V |
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,999,388 (GRCm39) |
Y999C |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,335,626 (GRCm39) |
Q539* |
probably null |
Het |
| Rps12 |
A |
G |
10: 23,661,129 (GRCm39) |
Y127H |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,679,079 (GRCm39) |
D116G |
probably benign |
Het |
| Selenbp2 |
C |
T |
3: 94,609,664 (GRCm39) |
P294L |
probably benign |
Het |
| Slc6a2 |
T |
C |
8: 93,722,300 (GRCm39) |
Y516H |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,394,627 (GRCm39) |
N673S |
probably null |
Het |
| Snap91 |
A |
T |
9: 86,672,199 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,127,461 (GRCm39) |
M1850V |
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,712,626 (GRCm39) |
F653L |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,016,213 (GRCm39) |
S824T |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,358 (GRCm39) |
V341A |
probably benign |
Het |
| Tmem52 |
G |
A |
4: 155,554,778 (GRCm39) |
G134R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,606,951 (GRCm39) |
T3949A |
probably benign |
Het |
| Usp32 |
GAACAAGTCCACAACAA |
GAACAA |
11: 84,913,681 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
A |
T |
7: 23,401,583 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,915,496 (GRCm39) |
R485* |
probably null |
Het |
| Vwce |
A |
G |
19: 10,615,479 (GRCm39) |
E120G |
possibly damaging |
Het |
| Zfp143 |
T |
C |
7: 109,692,287 (GRCm39) |
V566A |
possibly damaging |
Het |
|
| Other mutations in Col11a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00474:Col11a1
|
APN |
3 |
113,860,182 (GRCm39) |
missense |
unknown |
|
|
IGL00578:Col11a1
|
APN |
3 |
113,987,755 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00742:Col11a1
|
APN |
3 |
113,917,964 (GRCm39) |
missense |
unknown |
|
|
IGL01014:Col11a1
|
APN |
3 |
113,917,458 (GRCm39) |
splice site |
probably benign |
|
|
IGL01099:Col11a1
|
APN |
3 |
113,905,690 (GRCm39) |
nonsense |
probably null |
|
|
IGL01129:Col11a1
|
APN |
3 |
113,979,522 (GRCm39) |
splice site |
probably benign |
|
|
IGL01474:Col11a1
|
APN |
3 |
114,010,783 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01884:Col11a1
|
APN |
3 |
113,860,191 (GRCm39) |
missense |
unknown |
|
|
IGL02104:Col11a1
|
APN |
3 |
113,975,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02715:Col11a1
|
APN |
3 |
113,923,058 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02978:Col11a1
|
APN |
3 |
113,855,211 (GRCm39) |
missense |
unknown |
|
|
IGL03203:Col11a1
|
APN |
3 |
114,005,733 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03240:Col11a1
|
APN |
3 |
114,010,859 (GRCm39) |
splice site |
probably null |
|
|
IGL03357:Col11a1
|
APN |
3 |
113,987,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Col11a1
|
APN |
3 |
113,883,902 (GRCm39) |
missense |
unknown |
|
|
gluon
|
UTSW |
3 |
114,010,819 (GRCm39) |
utr 3 prime |
probably benign |
|
|
uncovered
|
UTSW |
3 |
113,906,116 (GRCm39) |
unclassified |
probably benign |
|
|
weakforce
|
UTSW |
3 |
113,907,249 (GRCm39) |
missense |
unknown |
|
|
R0110:Col11a1
|
UTSW |
3 |
113,899,105 (GRCm39) |
splice site |
probably benign |
|
|
R0144:Col11a1
|
UTSW |
3 |
113,907,243 (GRCm39) |
missense |
unknown |
|
|
R0432:Col11a1
|
UTSW |
3 |
113,999,550 (GRCm39) |
splice site |
probably benign |
|
|
R0468:Col11a1
|
UTSW |
3 |
114,010,707 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0510:Col11a1
|
UTSW |
3 |
113,899,105 (GRCm39) |
splice site |
probably benign |
|
|
R0535:Col11a1
|
UTSW |
3 |
113,855,184 (GRCm39) |
missense |
unknown |
|
|
R0608:Col11a1
|
UTSW |
3 |
114,012,364 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0826:Col11a1
|
UTSW |
3 |
113,932,414 (GRCm39) |
missense |
unknown |
|
|
R0827:Col11a1
|
UTSW |
3 |
113,932,414 (GRCm39) |
missense |
unknown |
|
|
R0862:Col11a1
|
UTSW |
3 |
113,932,414 (GRCm39) |
missense |
unknown |
|
|
R0863:Col11a1
|
UTSW |
3 |
113,932,414 (GRCm39) |
missense |
unknown |
|
|
R0926:Col11a1
|
UTSW |
3 |
113,883,829 (GRCm39) |
missense |
unknown |
|
|
R0980:Col11a1
|
UTSW |
3 |
113,932,414 (GRCm39) |
missense |
unknown |
|
|
R0981:Col11a1
|
UTSW |
3 |
113,932,414 (GRCm39) |
missense |
unknown |
|
|
R1004:Col11a1
|
UTSW |
3 |
113,888,671 (GRCm39) |
splice site |
probably benign |
|
|
R1037:Col11a1
|
UTSW |
3 |
113,987,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Col11a1
|
UTSW |
3 |
113,860,213 (GRCm39) |
missense |
unknown |
|
|
R1316:Col11a1
|
UTSW |
3 |
113,932,619 (GRCm39) |
splice site |
probably null |
|
|
R1324:Col11a1
|
UTSW |
3 |
113,824,565 (GRCm39) |
missense |
unknown |
|
|
R1338:Col11a1
|
UTSW |
3 |
114,010,644 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1513:Col11a1
|
UTSW |
3 |
113,890,803 (GRCm39) |
missense |
unknown |
|
|
R1528:Col11a1
|
UTSW |
3 |
114,010,644 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1567:Col11a1
|
UTSW |
3 |
113,932,261 (GRCm39) |
missense |
unknown |
|
|
R1596:Col11a1
|
UTSW |
3 |
113,946,262 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1605:Col11a1
|
UTSW |
3 |
113,925,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Col11a1
|
UTSW |
3 |
113,951,804 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1626:Col11a1
|
UTSW |
3 |
113,925,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Col11a1
|
UTSW |
3 |
113,855,184 (GRCm39) |
missense |
unknown |
|
|
R1806:Col11a1
|
UTSW |
3 |
113,951,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Col11a1
|
UTSW |
3 |
113,958,942 (GRCm39) |
splice site |
probably null |
|
|
R2084:Col11a1
|
UTSW |
3 |
113,951,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Col11a1
|
UTSW |
3 |
113,951,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3926:Col11a1
|
UTSW |
3 |
113,883,773 (GRCm39) |
splice site |
probably benign |
|
|
R3950:Col11a1
|
UTSW |
3 |
113,915,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3970:Col11a1
|
UTSW |
3 |
113,890,838 (GRCm39) |
missense |
unknown |
|
|
R4171:Col11a1
|
UTSW |
3 |
114,001,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4175:Col11a1
|
UTSW |
3 |
114,001,872 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4176:Col11a1
|
UTSW |
3 |
114,001,872 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4413:Col11a1
|
UTSW |
3 |
113,901,965 (GRCm39) |
missense |
unknown |
|
|
R4540:Col11a1
|
UTSW |
3 |
113,890,815 (GRCm39) |
missense |
unknown |
|
|
R5210:Col11a1
|
UTSW |
3 |
113,946,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Col11a1
|
UTSW |
3 |
114,010,819 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5335:Col11a1
|
UTSW |
3 |
113,888,889 (GRCm39) |
missense |
unknown |
|
|
R5344:Col11a1
|
UTSW |
3 |
114,002,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5394:Col11a1
|
UTSW |
3 |
113,987,833 (GRCm39) |
splice site |
probably null |
|
|
R5687:Col11a1
|
UTSW |
3 |
114,010,752 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5708:Col11a1
|
UTSW |
3 |
113,890,743 (GRCm39) |
missense |
unknown |
|
|
R5763:Col11a1
|
UTSW |
3 |
113,888,245 (GRCm39) |
intron |
probably benign |
|
|
R5792:Col11a1
|
UTSW |
3 |
113,925,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Col11a1
|
UTSW |
3 |
113,932,096 (GRCm39) |
missense |
probably benign |
|
|
R6679:Col11a1
|
UTSW |
3 |
113,946,368 (GRCm39) |
splice site |
probably null |
|
|
R6738:Col11a1
|
UTSW |
3 |
113,906,116 (GRCm39) |
unclassified |
probably benign |
|
|
R6747:Col11a1
|
UTSW |
3 |
114,006,099 (GRCm39) |
nonsense |
probably null |
|
|
R6808:Col11a1
|
UTSW |
3 |
113,888,593 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6861:Col11a1
|
UTSW |
3 |
113,961,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Col11a1
|
UTSW |
3 |
113,979,248 (GRCm39) |
missense |
unknown |
|
|
R7393:Col11a1
|
UTSW |
3 |
113,890,755 (GRCm39) |
missense |
unknown |
|
|
R7445:Col11a1
|
UTSW |
3 |
113,987,578 (GRCm39) |
missense |
unknown |
|
|
R7479:Col11a1
|
UTSW |
3 |
113,896,218 (GRCm39) |
missense |
unknown |
|
|
R7548:Col11a1
|
UTSW |
3 |
113,917,409 (GRCm39) |
missense |
unknown |
|
|
R7683:Col11a1
|
UTSW |
3 |
113,907,385 (GRCm39) |
missense |
unknown |
|
|
R7747:Col11a1
|
UTSW |
3 |
113,896,221 (GRCm39) |
missense |
unknown |
|
|
R7809:Col11a1
|
UTSW |
3 |
113,890,835 (GRCm39) |
missense |
unknown |
|
|
R7951:Col11a1
|
UTSW |
3 |
113,888,864 (GRCm39) |
missense |
unknown |
|
|
R8057:Col11a1
|
UTSW |
3 |
113,925,263 (GRCm39) |
missense |
unknown |
|
|
R8134:Col11a1
|
UTSW |
3 |
114,012,435 (GRCm39) |
missense |
unknown |
|
|
R8139:Col11a1
|
UTSW |
3 |
113,890,698 (GRCm39) |
missense |
unknown |
|
|
R8243:Col11a1
|
UTSW |
3 |
113,855,141 (GRCm39) |
missense |
unknown |
|
|
R8324:Col11a1
|
UTSW |
3 |
113,958,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8346:Col11a1
|
UTSW |
3 |
114,005,818 (GRCm39) |
missense |
unknown |
|
|
R8480:Col11a1
|
UTSW |
3 |
113,975,043 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9113:Col11a1
|
UTSW |
3 |
113,888,192 (GRCm39) |
nonsense |
probably null |
|
|
R9122:Col11a1
|
UTSW |
3 |
113,907,249 (GRCm39) |
missense |
unknown |
|
|
R9137:Col11a1
|
UTSW |
3 |
113,855,172 (GRCm39) |
missense |
unknown |
|
|
R9224:Col11a1
|
UTSW |
3 |
114,001,929 (GRCm39) |
missense |
unknown |
|
|
R9264:Col11a1
|
UTSW |
3 |
114,005,809 (GRCm39) |
missense |
unknown |
|
|
R9272:Col11a1
|
UTSW |
3 |
113,901,948 (GRCm39) |
nonsense |
probably null |
|
|
R9382:Col11a1
|
UTSW |
3 |
113,899,046 (GRCm39) |
missense |
unknown |
|
|
R9492:Col11a1
|
UTSW |
3 |
114,005,752 (GRCm39) |
missense |
probably benign |
0.39 |
|
RF002:Col11a1
|
UTSW |
3 |
114,010,650 (GRCm39) |
missense |
unknown |
|
|
X0018:Col11a1
|
UTSW |
3 |
113,905,882 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Col11a1
|
UTSW |
3 |
113,958,884 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Col11a1
|
UTSW |
3 |
113,932,570 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGTCCTATAAGACTCATCTTG -3'
(R):5'- GCCGTAAAGTATCTATGTAACTACGC -3'
Sequencing Primer
(F):5'- GACCTTACAAGCAGTCTG -3'
(R):5'- TGTAACTACGCCGTAAAGTATCG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation