Incidental Mutation 'R6326:Col27a1'
| ID |
510392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col27a1
|
| Ensembl Gene |
ENSMUSG00000045672 |
| Gene Name |
collagen, type XXVII, alpha 1 |
| Synonyms |
5730512J02Rik |
| MMRRC Submission |
044480-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6326 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to T
at 63242678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
[ENSMUST00000183913]
[ENSMUST00000184067]
|
| AlphaFold |
Q5QNQ9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000036300
AA Change: G1556V
|
| SMART Domains |
Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: G1556V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
TSPN
|
43 |
223 |
1.1e-5 |
SMART |
|
low complexity region
|
325 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
597 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
609 |
670 |
2.1e-10 |
PFAM |
|
Pfam:Collagen
|
666 |
731 |
3.7e-10 |
PFAM |
|
low complexity region
|
790 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
858 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
946 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1012 |
1080 |
2.8e-8 |
PFAM |
|
Pfam:Collagen
|
1033 |
1103 |
3e-9 |
PFAM |
|
Pfam:Collagen
|
1063 |
1130 |
3.4e-9 |
PFAM |
|
low complexity region
|
1150 |
1168 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1207 |
1281 |
5.5e-9 |
PFAM |
|
Pfam:Collagen
|
1261 |
1324 |
8.4e-10 |
PFAM |
|
Pfam:Collagen
|
1323 |
1384 |
3.8e-12 |
PFAM |
|
low complexity region
|
1438 |
1466 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
1467 |
1502 |
1.5e-7 |
PROSPERO |
|
internal_repeat_2
|
1468 |
1529 |
1.96e-8 |
PROSPERO |
|
Pfam:Collagen
|
1544 |
1606 |
2.4e-9 |
PFAM |
|
COLFI
|
1644 |
1845 |
1.28e-40 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183913
|
| SMART Domains |
Protein: ENSMUSP00000139182
Gene: ENSMUSG00000045672
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
1 |
60 |
2.7e-12 |
PFAM |
|
Pfam:Collagen
|
34 |
114 |
6.6e-8 |
PFAM |
|
Pfam:Collagen
|
87 |
163 |
3.6e-9 |
PFAM |
|
low complexity region
|
175 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
232 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
271 |
338 |
9.1e-11 |
PFAM |
|
Pfam:Collagen
|
328 |
388 |
5.4e-11 |
PFAM |
|
Pfam:Collagen
|
387 |
442 |
4.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184067
|
| SMART Domains |
Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
23 |
87 |
2.1e-8 |
PFAM |
|
Pfam:Collagen
|
57 |
145 |
8.3e-8 |
PFAM |
|
Pfam:Collagen
|
115 |
200 |
9.9e-8 |
PFAM |
|
low complexity region
|
202 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
331 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
337 |
442 |
5.17e-20 |
PROSPERO |
|
Pfam:Collagen
|
448 |
515 |
1.5e-9 |
PFAM |
|
Pfam:Collagen
|
478 |
543 |
2e-10 |
PFAM |
|
Pfam:Collagen
|
502 |
566 |
2.5e-9 |
PFAM |
|
Pfam:Collagen
|
532 |
617 |
4.4e-7 |
PFAM |
|
Pfam:Collagen
|
594 |
660 |
8.2e-11 |
PFAM |
|
Pfam:Collagen
|
649 |
709 |
1.4e-10 |
PFAM |
|
Pfam:Collagen
|
708 |
769 |
2e-12 |
PFAM |
|
Pfam:Collagen
|
752 |
829 |
5e-8 |
PFAM |
|
Pfam:Collagen
|
878 |
939 |
2.2e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-1 subunit of type XXVII collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein forms a homotrimeric triple helical procollagen that undergoes proteolytic processing during fibril formation. Transgenic mice lacking a portion of the collagenous domain in the encoded protein exhibit skeletal abnormalities, chondrodysplasia and die at birth because of a lung defect. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
A |
T |
7: 66,770,636 (GRCm39) |
Y915F |
probably benign |
Het |
| Adap2 |
T |
A |
11: 80,045,848 (GRCm39) |
F43I |
probably damaging |
Het |
| Adprs |
A |
T |
4: 126,210,406 (GRCm39) |
L358Q |
possibly damaging |
Het |
| Akap9 |
A |
C |
5: 4,012,061 (GRCm39) |
Q921H |
probably damaging |
Het |
| Amigo2 |
A |
G |
15: 97,143,256 (GRCm39) |
S389P |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,627,351 (GRCm39) |
C545* |
probably null |
Het |
| C2cd3 |
A |
G |
7: 100,065,635 (GRCm39) |
E807G |
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,395,078 (GRCm39) |
E323G |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,153,691 (GRCm39) |
S1711C |
probably damaging |
Het |
| Cebpzos |
T |
G |
17: 79,226,486 (GRCm39) |
D39E |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,945,539 (GRCm39) |
N1018D |
probably benign |
Het |
| Cfap68 |
T |
G |
9: 50,676,057 (GRCm39) |
N87T |
probably damaging |
Het |
| Clspn |
C |
A |
4: 126,459,532 (GRCm39) |
H141Q |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,557,068 (GRCm39) |
A1010V |
probably benign |
Het |
| Cpt2 |
T |
C |
4: 107,771,513 (GRCm39) |
M61V |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,814,709 (GRCm39) |
H578L |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,611,121 (GRCm39) |
I3749N |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,978 (GRCm39) |
T264A |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,827,068 (GRCm39) |
T1022S |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,769,066 (GRCm39) |
N693S |
probably damaging |
Het |
| Ephx4 |
A |
G |
5: 107,553,977 (GRCm39) |
E9G |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,095,278 (GRCm39) |
Q747* |
probably null |
Het |
| Flrt1 |
C |
T |
19: 7,073,974 (GRCm39) |
S191N |
probably damaging |
Het |
| Gm5114 |
C |
T |
7: 39,057,579 (GRCm39) |
R680H |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,780,172 (GRCm39) |
H250R |
probably damaging |
Het |
| Gm7233 |
T |
C |
14: 43,040,342 (GRCm39) |
C198R |
possibly damaging |
Het |
| Herc2 |
C |
G |
7: 55,872,682 (GRCm39) |
Q4407E |
probably damaging |
Het |
| Hmx3 |
C |
G |
7: 131,144,734 (GRCm39) |
|
probably benign |
Het |
| Hoxb7 |
C |
A |
11: 96,177,909 (GRCm39) |
A119E |
probably benign |
Het |
| Ifi207 |
A |
T |
1: 173,557,532 (GRCm39) |
M402K |
probably benign |
Het |
| Ints14 |
T |
C |
9: 64,871,719 (GRCm39) |
V19A |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,022,519 (GRCm39) |
N911K |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,048 (GRCm39) |
S145G |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,531,793 (GRCm39) |
W187R |
probably damaging |
Het |
| Krt1 |
A |
T |
15: 101,758,684 (GRCm39) |
I160N |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,307,745 (GRCm39) |
T448A |
probably benign |
Het |
| Lcmt2 |
G |
A |
2: 120,969,938 (GRCm39) |
R382* |
probably null |
Het |
| Map3k8 |
C |
T |
18: 4,340,651 (GRCm39) |
S221N |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,190,854 (GRCm39) |
D79G |
probably benign |
Het |
| Mlf1 |
A |
T |
3: 67,307,060 (GRCm39) |
I257F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,879,098 (GRCm39) |
F153I |
probably damaging |
Het |
| Msto1 |
A |
C |
3: 88,819,405 (GRCm39) |
V149G |
probably damaging |
Het |
| Mybl1 |
T |
C |
1: 9,748,732 (GRCm39) |
|
probably null |
Het |
| Myoc |
A |
G |
1: 162,476,580 (GRCm39) |
Y428C |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,091,955 (GRCm39) |
S785P |
possibly damaging |
Het |
| Oit3 |
A |
T |
10: 59,264,061 (GRCm39) |
F358I |
probably damaging |
Het |
| Or5t15 |
C |
T |
2: 86,681,338 (GRCm39) |
V235I |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,571 (GRCm39) |
T16A |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,566,753 (GRCm39) |
N29S |
probably benign |
Het |
| Pcdhgb4 |
T |
C |
18: 37,855,509 (GRCm39) |
S635P |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,298 (GRCm39) |
N708D |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prag1 |
A |
T |
8: 36,569,860 (GRCm39) |
M148L |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,691,359 (GRCm39) |
L176P |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,793,931 (GRCm39) |
V568D |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
| Resf1 |
T |
A |
6: 149,230,493 (GRCm39) |
Y1180N |
probably damaging |
Het |
| Robo3 |
T |
A |
9: 37,338,323 (GRCm39) |
Q386L |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,828 (GRCm39) |
V420A |
possibly damaging |
Het |
| Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,419,242 (GRCm39) |
E640G |
probably damaging |
Het |
| Slc22a2 |
C |
A |
17: 12,831,297 (GRCm39) |
Y362* |
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,737,450 (GRCm39) |
E603G |
probably benign |
Het |
| Slc6a17 |
A |
T |
3: 107,407,722 (GRCm39) |
I83N |
probably damaging |
Het |
| Snx29 |
G |
T |
16: 11,221,430 (GRCm39) |
M285I |
probably benign |
Het |
| Spata2 |
T |
C |
2: 167,326,094 (GRCm39) |
T242A |
possibly damaging |
Het |
| Stard13 |
A |
G |
5: 150,970,384 (GRCm39) |
L733P |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,073,045 (GRCm39) |
V2088A |
possibly damaging |
Het |
| Tdp2 |
A |
G |
13: 25,024,540 (GRCm39) |
E279G |
probably damaging |
Het |
| Tnfrsf8 |
T |
G |
4: 144,995,794 (GRCm39) |
I422L |
probably damaging |
Het |
| Tpk1 |
T |
A |
6: 43,323,736 (GRCm39) |
T189S |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,403,129 (GRCm39) |
M498K |
probably damaging |
Het |
| Trim35 |
T |
A |
14: 66,540,653 (GRCm39) |
H168Q |
possibly damaging |
Het |
| Tubb5 |
T |
C |
17: 36,147,347 (GRCm39) |
|
probably benign |
Het |
| Tut4 |
C |
T |
4: 108,336,177 (GRCm39) |
T6I |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,451,031 (GRCm39) |
G306R |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,261 (GRCm39) |
R104H |
possibly damaging |
Het |
| Zfp398 |
T |
C |
6: 47,843,355 (GRCm39) |
I337T |
possibly damaging |
Het |
|
| Other mutations in Col27a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Col27a1
|
APN |
4 |
63,218,978 (GRCm39) |
splice site |
probably benign |
|
|
IGL01461:Col27a1
|
APN |
4 |
63,142,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01534:Col27a1
|
APN |
4 |
63,144,019 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01738:Col27a1
|
APN |
4 |
63,182,016 (GRCm39) |
splice site |
probably benign |
|
|
IGL01810:Col27a1
|
APN |
4 |
63,143,868 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02127:Col27a1
|
APN |
4 |
63,143,379 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02290:Col27a1
|
APN |
4 |
63,144,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Col27a1
|
APN |
4 |
63,211,486 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02548:Col27a1
|
APN |
4 |
63,236,492 (GRCm39) |
splice site |
probably benign |
|
|
IGL02792:Col27a1
|
APN |
4 |
63,233,820 (GRCm39) |
missense |
unknown |
|
|
IGL02931:Col27a1
|
APN |
4 |
63,249,663 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03107:Col27a1
|
APN |
4 |
63,242,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL03121:Col27a1
|
APN |
4 |
63,143,446 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03334:Col27a1
|
APN |
4 |
63,232,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Col27a1
|
UTSW |
4 |
63,143,637 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0025:Col27a1
|
UTSW |
4 |
63,194,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Col27a1
|
UTSW |
4 |
63,183,870 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0196:Col27a1
|
UTSW |
4 |
63,142,503 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0359:Col27a1
|
UTSW |
4 |
63,232,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0375:Col27a1
|
UTSW |
4 |
63,143,898 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0432:Col27a1
|
UTSW |
4 |
63,143,848 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0499:Col27a1
|
UTSW |
4 |
63,218,978 (GRCm39) |
splice site |
probably benign |
|
|
R0786:Col27a1
|
UTSW |
4 |
63,209,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0891:Col27a1
|
UTSW |
4 |
63,223,420 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1239:Col27a1
|
UTSW |
4 |
63,237,152 (GRCm39) |
splice site |
probably benign |
|
|
R1297:Col27a1
|
UTSW |
4 |
63,183,868 (GRCm39) |
splice site |
probably benign |
|
|
R1299:Col27a1
|
UTSW |
4 |
63,183,868 (GRCm39) |
splice site |
probably benign |
|
|
R1322:Col27a1
|
UTSW |
4 |
63,246,803 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1342:Col27a1
|
UTSW |
4 |
63,175,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1446:Col27a1
|
UTSW |
4 |
63,143,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Col27a1
|
UTSW |
4 |
63,248,100 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1644:Col27a1
|
UTSW |
4 |
63,246,868 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1774:Col27a1
|
UTSW |
4 |
63,143,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Col27a1
|
UTSW |
4 |
63,249,586 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1952:Col27a1
|
UTSW |
4 |
63,202,130 (GRCm39) |
splice site |
probably null |
|
|
R1957:Col27a1
|
UTSW |
4 |
63,196,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1970:Col27a1
|
UTSW |
4 |
63,191,354 (GRCm39) |
splice site |
probably benign |
|
|
R2164:Col27a1
|
UTSW |
4 |
63,143,661 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3774:Col27a1
|
UTSW |
4 |
63,232,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4078:Col27a1
|
UTSW |
4 |
63,142,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Col27a1
|
UTSW |
4 |
63,143,868 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4611:Col27a1
|
UTSW |
4 |
63,211,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Col27a1
|
UTSW |
4 |
63,202,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4884:Col27a1
|
UTSW |
4 |
63,194,197 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5149:Col27a1
|
UTSW |
4 |
63,249,664 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5411:Col27a1
|
UTSW |
4 |
63,142,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5451:Col27a1
|
UTSW |
4 |
63,143,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5615:Col27a1
|
UTSW |
4 |
63,199,351 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5657:Col27a1
|
UTSW |
4 |
63,143,547 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5838:Col27a1
|
UTSW |
4 |
63,143,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Col27a1
|
UTSW |
4 |
63,142,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6457:Col27a1
|
UTSW |
4 |
63,237,701 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6624:Col27a1
|
UTSW |
4 |
63,143,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6792:Col27a1
|
UTSW |
4 |
63,235,740 (GRCm39) |
missense |
unknown |
|
|
R6848:Col27a1
|
UTSW |
4 |
63,220,608 (GRCm39) |
missense |
probably benign |
|
|
R6962:Col27a1
|
UTSW |
4 |
63,237,738 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7053:Col27a1
|
UTSW |
4 |
63,251,404 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7206:Col27a1
|
UTSW |
4 |
63,153,583 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7586:Col27a1
|
UTSW |
4 |
63,143,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Col27a1
|
UTSW |
4 |
63,143,955 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7714:Col27a1
|
UTSW |
4 |
63,242,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7916:Col27a1
|
UTSW |
4 |
63,142,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Col27a1
|
UTSW |
4 |
63,236,520 (GRCm39) |
missense |
unknown |
|
|
R7988:Col27a1
|
UTSW |
4 |
63,249,559 (GRCm39) |
missense |
unknown |
|
|
R8136:Col27a1
|
UTSW |
4 |
63,202,190 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8243:Col27a1
|
UTSW |
4 |
63,144,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Col27a1
|
UTSW |
4 |
63,144,040 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8350:Col27a1
|
UTSW |
4 |
63,248,134 (GRCm39) |
missense |
unknown |
|
|
R8437:Col27a1
|
UTSW |
4 |
63,237,701 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8450:Col27a1
|
UTSW |
4 |
63,248,134 (GRCm39) |
missense |
unknown |
|
|
R8542:Col27a1
|
UTSW |
4 |
63,239,662 (GRCm39) |
splice site |
probably null |
|
|
R8745:Col27a1
|
UTSW |
4 |
63,144,153 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8821:Col27a1
|
UTSW |
4 |
63,143,148 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8951:Col27a1
|
UTSW |
4 |
63,191,311 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8970:Col27a1
|
UTSW |
4 |
63,134,105 (GRCm39) |
missense |
unknown |
|
|
R9115:Col27a1
|
UTSW |
4 |
63,231,974 (GRCm39) |
missense |
unknown |
|
|
R9185:Col27a1
|
UTSW |
4 |
63,246,887 (GRCm39) |
missense |
unknown |
|
|
R9291:Col27a1
|
UTSW |
4 |
63,142,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9404:Col27a1
|
UTSW |
4 |
63,194,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Col27a1
|
UTSW |
4 |
63,144,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Col27a1
|
UTSW |
4 |
63,199,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGAGACATATAGCCTAGCCC -3'
(R):5'- AGCATTGGGTTAGGGCTCAG -3'
Sequencing Primer
(F):5'- AAGATGCATGGCCTGACC -3'
(R):5'- TTAGGGCTCAGAGGCAAGTCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation