Incidental Mutation 'R7053:Col27a1'
ID |
547697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col27a1
|
Ensembl Gene |
ENSMUSG00000045672 |
Gene Name |
collagen, type XXVII, alpha 1 |
Synonyms |
5730512J02Rik |
MMRRC Submission |
045150-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7053 (G1)
|
Quality Score |
209.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to A
at 63251404 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: H1799Q
|
SMART Domains |
Protein: ENSMUSP00000043816 Gene: ENSMUSG00000045672 AA Change: H1799Q
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 |
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,021,836 (GRCm39) |
C551* |
probably null |
Het |
Aldh1l1 |
C |
A |
6: 90,540,420 (GRCm39) |
T235K |
possibly damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,783,923 (GRCm39) |
E257G |
probably damaging |
Het |
AW146154 |
A |
G |
7: 41,131,988 (GRCm39) |
|
probably null |
Het |
BC048507 |
T |
C |
13: 68,011,772 (GRCm39) |
Y50H |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,083,791 (GRCm39) |
N77D |
possibly damaging |
Het |
Ccdc13 |
T |
C |
9: 121,662,904 (GRCm39) |
E37G |
probably damaging |
Het |
Ccn6 |
A |
G |
10: 39,034,297 (GRCm39) |
Y102H |
probably damaging |
Het |
Corin |
T |
A |
5: 72,458,870 (GRCm39) |
I960L |
probably benign |
Het |
Csnk2b |
A |
G |
17: 35,335,422 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,676,801 (GRCm39) |
S182G |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,851,666 (GRCm39) |
L74P |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,660,740 (GRCm39) |
D838G |
probably damaging |
Het |
Dkkl1 |
G |
T |
7: 44,857,022 (GRCm39) |
Q182K |
probably damaging |
Het |
Dnai2 |
T |
C |
11: 114,629,521 (GRCm39) |
S183P |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,344,161 (GRCm39) |
L1835P |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,225,328 (GRCm39) |
|
probably null |
Het |
Fam174a |
C |
T |
1: 95,252,953 (GRCm39) |
A185V |
probably damaging |
Het |
Fhip1b |
C |
T |
7: 105,033,779 (GRCm39) |
G479D |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Grid2 |
G |
T |
6: 64,677,402 (GRCm39) |
A74S |
unknown |
Het |
Gsdma3 |
T |
A |
11: 98,520,621 (GRCm39) |
M84K |
possibly damaging |
Het |
Hlcs |
A |
T |
16: 94,068,874 (GRCm39) |
S262R |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,376,963 (GRCm39) |
C4205R |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,157,218 (GRCm39) |
A181V |
probably benign |
Het |
Mdga2 |
T |
A |
12: 66,736,158 (GRCm39) |
I357F |
probably benign |
Het |
Mfn1 |
A |
G |
3: 32,586,114 (GRCm39) |
I21V |
probably benign |
Het |
Mgat4b |
C |
T |
11: 50,124,367 (GRCm39) |
T409M |
probably damaging |
Het |
Mgat4d |
G |
T |
8: 84,098,261 (GRCm39) |
K341N |
probably damaging |
Het |
Mpo |
A |
T |
11: 87,694,336 (GRCm39) |
N109Y |
probably damaging |
Het |
Mvp |
T |
C |
7: 126,586,776 (GRCm39) |
Q785R |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,189,145 (GRCm39) |
V88A |
probably damaging |
Het |
Oasl2 |
A |
T |
5: 115,049,291 (GRCm39) |
I464L |
possibly damaging |
Het |
Or5m11b |
G |
T |
2: 85,806,358 (GRCm39) |
C257F |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,740,681 (GRCm39) |
F2139L |
probably damaging |
Het |
Pop1 |
T |
G |
15: 34,530,421 (GRCm39) |
S940A |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 4,905,670 (GRCm39) |
M75K |
probably damaging |
Het |
Prdm15 |
G |
A |
16: 97,595,742 (GRCm39) |
Q1029* |
probably null |
Het |
Rffl |
T |
C |
11: 82,703,497 (GRCm39) |
K142R |
probably null |
Het |
Rhou |
A |
G |
8: 124,380,934 (GRCm39) |
|
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,268,958 (GRCm39) |
T1515S |
possibly damaging |
Het |
Serpina1b |
T |
A |
12: 103,698,688 (GRCm39) |
S54C |
possibly damaging |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Taok3 |
T |
A |
5: 117,390,627 (GRCm39) |
D529E |
probably benign |
Het |
Tmem18 |
T |
A |
12: 30,634,506 (GRCm39) |
M1K |
probably null |
Het |
Tmem269 |
T |
A |
4: 119,066,464 (GRCm39) |
H198L |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,772,984 (GRCm39) |
V432A |
unknown |
Het |
Ttc6 |
A |
T |
12: 57,707,318 (GRCm39) |
T742S |
probably benign |
Het |
Uhrf2 |
T |
A |
19: 30,069,519 (GRCm39) |
C749S |
probably damaging |
Het |
Unc13c |
G |
A |
9: 73,839,579 (GRCm39) |
T424I |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r61 |
A |
C |
7: 41,916,557 (GRCm39) |
D390A |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,922,298 (GRCm39) |
|
probably null |
Het |
Zfp948 |
T |
A |
17: 21,805,121 (GRCm39) |
L37* |
probably null |
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 |
|
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'- TTCAAGGTCACCTGCACTTAC -3'
(R):5'- CCCACAAGGCTTAGATGAGC -3'
Sequencing Primer
(F):5'- AGGTCACCTGCACTTACATGCTC -3'
(R):5'- GCTTAGATGAGCCTAGAGGTC -3'
|
Posted On |
2019-05-13 |