Incidental Mutation 'R6457:Col27a1'
| ID |
516516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col27a1
|
| Ensembl Gene |
ENSMUSG00000045672 |
| Gene Name |
collagen, type XXVII, alpha 1 |
| Synonyms |
5730512J02Rik |
| MMRRC Submission |
044592-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 63237701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
[ENSMUST00000183913]
[ENSMUST00000184067]
|
| AlphaFold |
Q5QNQ9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000036300
AA Change: N1446K
|
| SMART Domains |
Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: N1446K
| 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 |
unknown
Transcript: ENSMUST00000184067
AA Change: N831K
|
| SMART Domains |
Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672
AA Change: N831K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,772,383 (GRCm39) |
V524E |
probably damaging |
Het |
| Acer2 |
T |
A |
4: 86,818,808 (GRCm39) |
M152K |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,921,876 (GRCm39) |
D130G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,577,983 (GRCm39) |
F211Y |
probably damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,282,670 (GRCm39) |
A326T |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,635,503 (GRCm39) |
R44C |
probably damaging |
Het |
| Ankrd46 |
A |
G |
15: 36,484,217 (GRCm39) |
|
probably benign |
Het |
| Aurkb |
G |
A |
11: 68,939,172 (GRCm39) |
E132K |
possibly damaging |
Het |
| Bsdc1 |
C |
T |
4: 129,359,069 (GRCm39) |
T9I |
possibly damaging |
Het |
| Card14 |
C |
T |
11: 119,230,428 (GRCm39) |
R767* |
probably null |
Het |
| Ccdc82 |
T |
A |
9: 13,272,745 (GRCm39) |
F411L |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,552,973 (GRCm39) |
G2106D |
probably damaging |
Het |
| Cox10 |
A |
G |
11: 63,855,198 (GRCm39) |
L361P |
probably damaging |
Het |
| Cox18 |
A |
G |
5: 90,371,548 (GRCm39) |
I84T |
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,646,522 (GRCm39) |
S125P |
probably damaging |
Het |
| Fbxl15 |
A |
G |
19: 46,317,765 (GRCm39) |
H149R |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,789 (GRCm39) |
S2234T |
unknown |
Het |
| Gtf2e1 |
A |
C |
16: 37,356,698 (GRCm39) |
|
probably null |
Het |
| H2-Q7 |
A |
T |
17: 35,658,655 (GRCm39) |
S98C |
probably damaging |
Het |
| Hcn2 |
G |
T |
10: 79,569,607 (GRCm39) |
E536* |
probably null |
Het |
| Kat6b |
A |
T |
14: 21,720,748 (GRCm39) |
H1700L |
probably damaging |
Het |
| Klhl3 |
C |
T |
13: 58,248,192 (GRCm39) |
V35I |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,416,663 (GRCm39) |
S644P |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,676,620 (GRCm39) |
V685E |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,531,408 (GRCm39) |
|
probably benign |
Het |
| Malrd1 |
A |
T |
2: 15,672,740 (GRCm39) |
H599L |
probably benign |
Het |
| Matn2 |
T |
A |
15: 34,426,380 (GRCm39) |
C631S |
probably damaging |
Het |
| Megf8 |
A |
T |
7: 25,049,120 (GRCm39) |
D1739V |
probably damaging |
Het |
| Mlf1 |
G |
A |
3: 67,300,277 (GRCm39) |
R98Q |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,649,815 (GRCm39) |
I1173K |
possibly damaging |
Het |
| Mrc1 |
A |
G |
2: 14,275,016 (GRCm39) |
D439G |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,662,691 (GRCm39) |
W208R |
probably damaging |
Het |
| Ms4a5 |
T |
G |
19: 11,256,646 (GRCm39) |
I84L |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,405,218 (GRCm39) |
|
probably null |
Het |
| Nbea |
T |
A |
3: 55,907,990 (GRCm39) |
H1374L |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,292,633 (GRCm39) |
I1095K |
probably benign |
Het |
| Nolc1 |
A |
G |
19: 46,071,509 (GRCm39) |
|
probably benign |
Het |
| Nr5a2 |
A |
G |
1: 136,887,976 (GRCm39) |
L18P |
probably benign |
Het |
| Nup188 |
G |
T |
2: 30,212,199 (GRCm39) |
C562F |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,971,597 (GRCm39) |
V2415A |
probably damaging |
Het |
| Pacsin2 |
A |
T |
15: 83,263,879 (GRCm39) |
|
probably null |
Het |
| Pias3 |
A |
G |
3: 96,606,839 (GRCm39) |
H34R |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,729,361 (GRCm39) |
V903A |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,123,275 (GRCm39) |
L84Q |
probably damaging |
Het |
| Pramel6 |
G |
A |
2: 87,339,782 (GRCm39) |
C182Y |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,743,896 (GRCm39) |
Y120H |
probably damaging |
Het |
| Prss28 |
A |
G |
17: 25,530,331 (GRCm39) |
M212V |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,677,224 (GRCm39) |
G391* |
probably null |
Het |
| Rc3h2 |
C |
T |
2: 37,301,151 (GRCm39) |
|
probably null |
Het |
| Ret |
A |
G |
6: 118,150,582 (GRCm39) |
F645L |
probably benign |
Het |
| Saxo5 |
T |
C |
8: 3,529,268 (GRCm39) |
L251P |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,755,995 (GRCm39) |
S402P |
possibly damaging |
Het |
| Shc3 |
T |
A |
13: 51,636,915 (GRCm39) |
|
probably null |
Het |
| Slc25a16 |
A |
G |
10: 62,776,938 (GRCm39) |
N246S |
probably benign |
Het |
| Snrpd1 |
T |
A |
18: 10,623,694 (GRCm39) |
H26Q |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,733,363 (GRCm39) |
T137A |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,593,597 (GRCm39) |
H151L |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,957,209 (GRCm39) |
K1725N |
probably damaging |
Het |
| Tomm40l |
T |
A |
1: 171,048,161 (GRCm39) |
T147S |
probably damaging |
Het |
| Tomm6 |
G |
T |
17: 47,998,932 (GRCm39) |
|
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,440 (GRCm39) |
C272Y |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,649,214 (GRCm39) |
V1492E |
probably benign |
Het |
| Tsen2 |
G |
A |
6: 115,536,592 (GRCm39) |
R116H |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,555,726 (GRCm39) |
F456S |
probably damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,836,279 (GRCm39) |
M199K |
possibly damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,378 (GRCm39) |
C120Y |
probably 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 |
|
R6326:Col27a1
|
UTSW |
4 |
63,242,678 (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'- ACTGTGTCTCTTTGATGCTAGCAC -3'
(R):5'- ACTTGGTCAACGTGGAGTCAG -3'
Sequencing Primer
(F):5'- CCTGGGTCACTAGGCCATATTG -3'
(R):5'- TCACATGGGCCTTAGGATATAGATGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation