Incidental Mutation 'R1807:Col27a1'
| ID |
203516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col27a1
|
| Ensembl Gene |
ENSMUSG00000045672 |
| Gene Name |
collagen, type XXVII, alpha 1 |
| Synonyms |
5730512J02Rik |
| MMRRC Submission |
039836-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1807 (G1)
|
| Quality Score |
138 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 63249586 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: H1747R
|
| SMART Domains |
Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: H1747R
| 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 |
noncoding transcript
Transcript: ENSMUST00000151992
|
| 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 |
|
| Meta Mutation Damage Score |
0.1200 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.7%
- 20x: 90.7%
|
| Validation Efficiency |
97% (77/79) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
T |
17: 36,205,961 (GRCm39) |
W27* |
probably null |
Het |
| 4933430I17Rik |
T |
A |
4: 62,460,993 (GRCm39) |
Y289* |
probably null |
Het |
| A3galt2 |
A |
G |
4: 128,661,394 (GRCm39) |
I348V |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,241,755 (GRCm39) |
Y1206C |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,172 (GRCm39) |
S18P |
probably benign |
Het |
| Akr1cl |
T |
C |
1: 65,061,106 (GRCm39) |
D139G |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,873 (GRCm39) |
Y137C |
possibly damaging |
Het |
| Arsa |
T |
C |
15: 89,359,525 (GRCm39) |
M86V |
possibly damaging |
Het |
| Atg9b |
C |
A |
5: 24,592,055 (GRCm39) |
R648L |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,824,692 (GRCm39) |
N1042S |
possibly damaging |
Het |
| Ccdc6 |
T |
A |
10: 70,010,989 (GRCm39) |
D325E |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,101,203 (GRCm39) |
S354P |
unknown |
Het |
| Chst3 |
T |
A |
10: 60,022,130 (GRCm39) |
Y239F |
probably benign |
Het |
| Cilp2 |
C |
A |
8: 70,334,844 (GRCm39) |
R718L |
probably damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,137 (GRCm39) |
N266S |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,620,017 (GRCm39) |
V123A |
probably damaging |
Het |
| Cyria |
G |
A |
12: 12,411,505 (GRCm39) |
R123Q |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,895,034 (GRCm39) |
E552V |
probably null |
Het |
| Dcst1 |
T |
A |
3: 89,260,848 (GRCm39) |
H516L |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Drd2 |
C |
T |
9: 49,316,367 (GRCm39) |
L376F |
probably damaging |
Het |
| Edn1 |
A |
G |
13: 42,460,270 (GRCm39) |
N175S |
probably damaging |
Het |
| Eipr1 |
G |
T |
12: 28,816,838 (GRCm39) |
G65V |
probably damaging |
Het |
| Epha4 |
G |
A |
1: 77,351,541 (GRCm39) |
P905S |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,319,680 (GRCm39) |
Y591H |
probably damaging |
Het |
| Fam135b |
G |
A |
15: 71,335,761 (GRCm39) |
R478C |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,180,085 (GRCm39) |
T1419A |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,934,645 (GRCm38) |
T2239I |
probably benign |
Het |
| Gm7713 |
T |
C |
15: 59,866,320 (GRCm39) |
|
noncoding transcript |
Het |
| Hsf5 |
C |
T |
11: 87,548,168 (GRCm39) |
P617L |
probably benign |
Het |
| Kcnk12 |
C |
A |
17: 88,053,468 (GRCm39) |
R398L |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,075,531 (GRCm39) |
N219K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klra5 |
A |
T |
6: 129,876,383 (GRCm39) |
F141L |
probably benign |
Het |
| Lmtk3 |
C |
T |
7: 45,442,702 (GRCm39) |
P462S |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,167,938 (GRCm39) |
|
probably benign |
Het |
| Me1 |
T |
A |
9: 86,532,932 (GRCm39) |
T197S |
probably damaging |
Het |
| Msr1 |
T |
A |
8: 40,072,948 (GRCm39) |
Q267L |
probably benign |
Het |
| Nfic |
T |
C |
10: 81,240,819 (GRCm39) |
T328A |
probably benign |
Het |
| Nphp3 |
G |
A |
9: 103,897,940 (GRCm39) |
D390N |
probably benign |
Het |
| Nr2e1 |
T |
A |
10: 42,458,905 (GRCm39) |
|
probably null |
Het |
| Nt5el |
A |
T |
13: 105,218,744 (GRCm39) |
Q26L |
probably benign |
Het |
| Or52e19b |
T |
A |
7: 103,032,790 (GRCm39) |
N140Y |
probably benign |
Het |
| Or5t9 |
T |
A |
2: 86,659,445 (GRCm39) |
F116L |
probably benign |
Het |
| Pard6b |
T |
C |
2: 167,929,332 (GRCm39) |
L46P |
probably damaging |
Het |
| Prkaa1 |
T |
A |
15: 5,173,436 (GRCm39) |
L20Q |
probably damaging |
Het |
| Rapgefl1 |
T |
C |
11: 98,736,815 (GRCm39) |
|
probably null |
Het |
| Recql5 |
T |
C |
11: 115,785,941 (GRCm39) |
K611E |
possibly damaging |
Het |
| Rexo1 |
A |
T |
10: 80,378,413 (GRCm39) |
I1180N |
possibly damaging |
Het |
| Rnf26rt |
A |
G |
6: 76,474,397 (GRCm39) |
V73A |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,083,456 (GRCm39) |
N605D |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,409,491 (GRCm39) |
V592A |
possibly damaging |
Het |
| Skint11 |
A |
T |
4: 114,051,893 (GRCm39) |
R80S |
probably benign |
Het |
| Smpdl3a |
C |
A |
10: 57,677,118 (GRCm39) |
P72H |
probably damaging |
Het |
| Sobp |
T |
G |
10: 43,036,822 (GRCm39) |
M39L |
possibly damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,233,627 (GRCm39) |
Y574F |
probably damaging |
Het |
| Spns3 |
C |
T |
11: 72,429,166 (GRCm39) |
W206* |
probably null |
Het |
| Srf |
A |
G |
17: 46,864,685 (GRCm39) |
V190A |
possibly damaging |
Het |
| Stag1 |
T |
G |
9: 100,790,719 (GRCm39) |
H742Q |
probably benign |
Het |
| Strn3 |
A |
T |
12: 51,673,986 (GRCm39) |
S542T |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,873,906 (GRCm39) |
E1020G |
possibly damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,996,826 (GRCm39) |
H137L |
probably benign |
Het |
| Tlr12 |
A |
T |
4: 128,511,229 (GRCm39) |
D340E |
probably benign |
Het |
| Tmem130 |
T |
A |
5: 144,692,174 (GRCm39) |
T77S |
probably benign |
Het |
| Tmem143 |
C |
A |
7: 45,547,037 (GRCm39) |
R68S |
probably damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Trem1 |
G |
T |
17: 48,548,663 (GRCm39) |
G67* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,576,125 (GRCm39) |
D978G |
probably benign |
Het |
| Txndc9 |
A |
T |
1: 38,033,096 (GRCm39) |
H95Q |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,986,936 (GRCm39) |
R187Q |
probably damaging |
Het |
| Zfp35 |
T |
A |
18: 24,136,986 (GRCm39) |
N443K |
probably benign |
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 |
|
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 |
|
|
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'- TAGGCTACAGGACCAGCTCATG -3'
(R):5'- GGGCTCCAACAGTTACCTTG -3'
Sequencing Primer
(F):5'- AGCTCATGGAGAACTCAGTTTTCCTG -3'
(R):5'- AGTTACCTTGCAGCCATCCATAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation