Incidental Mutation 'R4078:Col27a1'
ID |
316671 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col27a1
|
Ensembl Gene |
ENSMUSG00000045672 |
Gene Name |
collagen, type XXVII, alpha 1 |
Synonyms |
5730512J02Rik |
MMRRC Submission |
041623-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 63142669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 119
(R119L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
|
AlphaFold |
Q5QNQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036300
AA Change: R119L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043816 Gene: ENSMUSG00000045672 AA Change: R119L
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: ENSMUST00000125504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148751
|
Meta Mutation Damage Score |
0.1418 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (70/73) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
A |
T |
9: 46,215,359 (GRCm39) |
L367* |
probably null |
Het |
Agfg1 |
T |
A |
1: 82,860,008 (GRCm39) |
S312T |
possibly damaging |
Het |
Akap8 |
C |
T |
17: 32,531,272 (GRCm39) |
R380Q |
probably damaging |
Het |
Ambp |
T |
A |
4: 63,068,680 (GRCm39) |
K112N |
probably damaging |
Het |
Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
Asah1 |
A |
G |
8: 41,807,119 (GRCm39) |
S102P |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,044,110 (GRCm39) |
V112A |
probably benign |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cabs1 |
G |
A |
5: 88,128,161 (GRCm39) |
E271K |
probably damaging |
Het |
Car8 |
T |
C |
4: 8,169,731 (GRCm39) |
K259R |
possibly damaging |
Het |
Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
Cdh4 |
A |
G |
2: 179,530,966 (GRCm39) |
E616G |
possibly damaging |
Het |
Cdk11b |
C |
T |
4: 155,724,204 (GRCm39) |
|
probably benign |
Het |
Cfap74 |
A |
G |
4: 155,540,128 (GRCm39) |
D975G |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,790,059 (GRCm39) |
N918S |
unknown |
Het |
Colec11 |
T |
C |
12: 28,645,246 (GRCm39) |
N142D |
possibly damaging |
Het |
Cox7a2 |
G |
A |
9: 79,665,852 (GRCm39) |
Q10* |
probably null |
Het |
Cyp2b23 |
C |
A |
7: 26,372,517 (GRCm39) |
G366V |
probably damaging |
Het |
Eif1ad3 |
A |
G |
12: 87,843,401 (GRCm39) |
K16R |
unknown |
Het |
Emsy |
G |
A |
7: 98,239,932 (GRCm39) |
P1108S |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,812,772 (GRCm39) |
R1442S |
probably damaging |
Het |
Fam151a |
G |
A |
4: 106,604,954 (GRCm39) |
G439S |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,442,159 (GRCm39) |
P1154S |
probably damaging |
Het |
Fat4 |
G |
A |
3: 39,034,169 (GRCm39) |
S2607N |
probably damaging |
Het |
Fzd7 |
T |
A |
1: 59,522,948 (GRCm39) |
M277K |
possibly damaging |
Het |
Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
Gm38706 |
G |
T |
6: 130,460,700 (GRCm39) |
|
noncoding transcript |
Het |
Gm9758 |
T |
A |
5: 14,961,536 (GRCm39) |
|
probably null |
Het |
Gpr3 |
T |
C |
4: 132,938,226 (GRCm39) |
T149A |
probably damaging |
Het |
Heatr9 |
C |
A |
11: 83,403,254 (GRCm39) |
K428N |
probably benign |
Het |
Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,568,495 (GRCm39) |
K591R |
possibly damaging |
Het |
Khdrbs2 |
T |
C |
1: 32,558,895 (GRCm39) |
|
probably benign |
Het |
Lpp |
G |
A |
16: 24,500,611 (GRCm39) |
R141H |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,365,884 (GRCm39) |
Q2959L |
probably benign |
Het |
Mipep |
T |
A |
14: 61,083,926 (GRCm39) |
Y606N |
probably damaging |
Het |
Mroh5 |
C |
A |
15: 73,657,889 (GRCm39) |
C547F |
possibly damaging |
Het |
Nek3 |
A |
T |
8: 22,622,153 (GRCm39) |
W363R |
probably damaging |
Het |
Nphs1 |
T |
A |
7: 30,166,945 (GRCm39) |
Y717* |
probably null |
Het |
Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
Optc |
T |
C |
1: 133,826,087 (GRCm39) |
H270R |
probably damaging |
Het |
Or1l4 |
T |
A |
2: 37,092,024 (GRCm39) |
I257N |
possibly damaging |
Het |
Or2l5 |
T |
A |
16: 19,333,982 (GRCm39) |
M135L |
possibly damaging |
Het |
Or5p80 |
T |
A |
7: 108,230,114 (GRCm39) |
M305K |
probably benign |
Het |
Or9r7 |
G |
A |
10: 129,962,587 (GRCm39) |
T113I |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,612,608 (GRCm39) |
|
probably benign |
Het |
Pms1 |
A |
T |
1: 53,306,948 (GRCm39) |
|
probably null |
Het |
Pramel51 |
T |
A |
12: 88,142,683 (GRCm39) |
I312F |
probably benign |
Het |
Prkg1 |
T |
C |
19: 31,562,978 (GRCm39) |
Y156C |
probably damaging |
Het |
Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,078,777 (GRCm39) |
H304L |
probably benign |
Het |
Stox1 |
C |
T |
10: 62,501,810 (GRCm39) |
C250Y |
probably benign |
Het |
Sult2a3 |
A |
G |
7: 13,855,662 (GRCm39) |
W65R |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Syne2 |
C |
A |
12: 76,082,398 (GRCm39) |
T4857K |
probably damaging |
Het |
Tcp1 |
T |
C |
17: 13,136,970 (GRCm39) |
L64S |
probably benign |
Het |
Thap11 |
G |
T |
8: 106,582,548 (GRCm39) |
E186* |
probably null |
Het |
Tmem67 |
A |
G |
4: 12,040,633 (GRCm39) |
|
probably null |
Het |
Trappc10 |
T |
C |
10: 78,046,216 (GRCm39) |
Y458C |
probably damaging |
Het |
Ufd1 |
A |
G |
16: 18,644,528 (GRCm39) |
Y197C |
possibly damaging |
Het |
Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
Usp49 |
A |
G |
17: 47,985,674 (GRCm39) |
T245A |
probably damaging |
Het |
Washc1 |
A |
T |
17: 66,424,156 (GRCm39) |
E289D |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,969,011 (GRCm39) |
V450E |
probably benign |
Het |
Zcchc17 |
T |
G |
4: 130,223,418 (GRCm39) |
I123L |
possibly damaging |
Het |
Zfp955a |
A |
G |
17: 33,460,675 (GRCm39) |
Y486H |
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 |
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'- TTGGAGCAGGCTCTTATCATC -3'
(R):5'- ACAGGCTGTCACCATTGTG -3'
Sequencing Primer
(F):5'- GGAGCAGGCTCTTATCATCTTCTC -3'
(R):5'- CACCATTGTGACTGTGCGG -3'
|
Posted On |
2015-05-15 |