Incidental Mutation 'R7586:Col27a1'
| ID |
587127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col27a1
|
| Ensembl Gene |
ENSMUSG00000045672 |
| Gene Name |
collagen, type XXVII, alpha 1 |
| Synonyms |
5730512J02Rik |
| MMRRC Submission |
045668-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 63143278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 322
(A322D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
|
| AlphaFold |
Q5QNQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036300
AA Change: A322D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: A322D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
C |
T |
9: 65,409,466 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
A |
G |
13: 96,968,562 (GRCm39) |
E733G |
possibly damaging |
Het |
| Cars2 |
C |
T |
8: 11,580,321 (GRCm39) |
W239* |
probably null |
Het |
| Catsperz |
A |
T |
19: 6,899,929 (GRCm39) |
L192* |
probably null |
Het |
| Ccdc168 |
G |
A |
1: 44,099,173 (GRCm39) |
R642W |
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,237,975 (GRCm39) |
|
probably null |
Het |
| Cfh |
C |
T |
1: 140,075,459 (GRCm39) |
V260M |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,296,958 (GRCm39) |
S227C |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,397,388 (GRCm39) |
W62R |
probably damaging |
Het |
| Egflam |
C |
T |
15: 7,238,082 (GRCm39) |
G934S |
probably damaging |
Het |
| Eloa |
A |
G |
4: 135,734,510 (GRCm39) |
V665A |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,275 (GRCm39) |
T2433A |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,215,011 (GRCm39) |
N848S |
possibly damaging |
Het |
| Fbrsl1 |
A |
C |
5: 110,526,020 (GRCm39) |
F61V |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,349,683 (GRCm39) |
Y1595H |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 52,963,256 (GRCm39) |
N213D |
probably benign |
Het |
| Gab2 |
C |
T |
7: 96,950,645 (GRCm39) |
P446L |
probably damaging |
Het |
| Ganab |
A |
T |
19: 8,888,716 (GRCm39) |
Y552F |
possibly damaging |
Het |
| Gfy |
C |
T |
7: 44,826,962 (GRCm39) |
R378Q |
probably damaging |
Het |
| Gm3285 |
T |
C |
10: 77,697,875 (GRCm39) |
V8A |
unknown |
Het |
| Grip1 |
A |
T |
10: 119,913,043 (GRCm39) |
|
probably null |
Het |
| Gtf3c3 |
A |
G |
1: 54,442,752 (GRCm39) |
L764P |
probably damaging |
Het |
| Igfbp2 |
A |
T |
1: 72,888,307 (GRCm39) |
M150L |
probably benign |
Het |
| Jakmip2 |
C |
T |
18: 43,673,676 (GRCm39) |
R796Q |
probably damaging |
Het |
| Jpt1 |
T |
A |
11: 115,389,021 (GRCm39) |
R141W |
probably damaging |
Het |
| Junb |
T |
C |
8: 85,704,802 (GRCm39) |
E86G |
probably damaging |
Het |
| Klhl41 |
A |
T |
2: 69,505,068 (GRCm39) |
D457V |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,977,389 (GRCm39) |
Y1930C |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,161,828 (GRCm39) |
I2167N |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,485,840 (GRCm39) |
|
probably benign |
Het |
| Myo1b |
A |
C |
1: 51,817,483 (GRCm39) |
I593S |
probably damaging |
Het |
| Myo1c |
A |
T |
11: 75,548,345 (GRCm39) |
T16S |
possibly damaging |
Het |
| Ndufaf4 |
C |
T |
4: 24,901,829 (GRCm39) |
L126F |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,256,721 (GRCm39) |
N113I |
possibly damaging |
Het |
| Or5d43 |
T |
A |
2: 88,104,794 (GRCm39) |
I200F |
probably damaging |
Het |
| Or5g23 |
G |
C |
2: 85,438,528 (GRCm39) |
S242C |
probably damaging |
Het |
| Or5p6 |
T |
A |
7: 107,631,128 (GRCm39) |
T141S |
probably benign |
Het |
| Pabpc6 |
A |
T |
17: 9,887,611 (GRCm39) |
D313E |
probably damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,428,857 (GRCm39) |
G277* |
probably null |
Het |
| Phkb |
T |
G |
8: 86,756,226 (GRCm39) |
V840G |
probably damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,034,955 (GRCm39) |
F415S |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,779 (GRCm39) |
E1112G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,797,206 (GRCm39) |
D847G |
probably damaging |
Het |
| Qrich2 |
C |
T |
11: 116,346,450 (GRCm39) |
R1458H |
probably benign |
Het |
| Rdh11 |
T |
C |
12: 79,231,957 (GRCm39) |
Y199C |
probably damaging |
Het |
| Resf1 |
A |
T |
6: 149,228,291 (GRCm39) |
N446Y |
possibly damaging |
Het |
| Scamp3 |
A |
G |
3: 89,087,673 (GRCm39) |
Y171C |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,743 (GRCm39) |
S312P |
probably damaging |
Het |
| Slain2 |
G |
A |
5: 73,123,165 (GRCm39) |
S461N |
probably benign |
Het |
| Slc23a1 |
G |
A |
18: 35,758,891 (GRCm39) |
T100I |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,866,194 (GRCm39) |
I1114N |
probably damaging |
Het |
| Spinkl |
A |
G |
18: 44,307,656 (GRCm39) |
S2P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,457 (GRCm39) |
N173S |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,411,013 (GRCm39) |
V697E |
probably damaging |
Het |
| Taf6l |
C |
T |
19: 8,761,210 (GRCm39) |
E53K |
probably damaging |
Het |
| Tmem81 |
A |
T |
1: 132,435,511 (GRCm39) |
I106F |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,935,382 (GRCm39) |
L2561I |
probably damaging |
Het |
| Top3b |
G |
A |
16: 16,709,232 (GRCm39) |
R640H |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,652,085 (GRCm39) |
S1463T |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Tubal3 |
A |
C |
13: 3,978,198 (GRCm39) |
D38A |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,624,962 (GRCm39) |
I2766F |
probably benign |
Het |
| Wwc1 |
A |
T |
11: 35,735,022 (GRCm39) |
V951E |
possibly damaging |
Het |
| Zfp777 |
A |
T |
6: 48,006,152 (GRCm39) |
M414K |
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 |
|
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 |
|
|
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 |
|
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'- TGCATCCTGAACCAGCCTTG -3'
(R):5'- GCTTTGTGAATGAAGGGACACC -3'
Sequencing Primer
(F):5'- TGAACCAGCCTTGCTTGG -3'
(R):5'- ACACCTGTTTTCTGGGTTGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation