Incidental Mutation 'R0141:Col27a1'
| ID |
22308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col27a1
|
| Ensembl Gene |
ENSMUSG00000045672 |
| Gene Name |
collagen, type XXVII, alpha 1 |
| Synonyms |
5730512J02Rik |
| MMRRC Submission |
038426-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0141 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 63183870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
[ENSMUST00000184067]
|
| AlphaFold |
Q5QNQ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036300
|
| SMART Domains |
Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
| 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
|
| 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 |
0.9481 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
88% (50/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
C |
13: 91,919,947 (GRCm39) |
D294A |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,920,066 (GRCm39) |
D24G |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,044 (GRCm39) |
G1776D |
probably damaging |
Het |
| Arfgef3 |
C |
A |
10: 18,473,155 (GRCm39) |
C1636F |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,501,940 (GRCm39) |
L722P |
probably damaging |
Het |
| Ccndbp1 |
T |
A |
2: 120,842,903 (GRCm39) |
M188K |
probably damaging |
Het |
| Cpt1c |
A |
G |
7: 44,616,095 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,298,912 (GRCm39) |
I71V |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dmrt2 |
A |
T |
19: 25,655,655 (GRCm39) |
Q418L |
possibly damaging |
Het |
| Ebf1 |
T |
C |
11: 44,798,827 (GRCm39) |
L284S |
probably damaging |
Het |
| Fam131a |
G |
A |
16: 20,517,738 (GRCm39) |
A15T |
probably benign |
Het |
| Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,430,251 (GRCm39) |
E226G |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,198,238 (GRCm39) |
I174N |
probably damaging |
Het |
| Gm44501 |
T |
C |
17: 40,889,744 (GRCm39) |
I86T |
probably benign |
Het |
| Gtsf1l |
T |
C |
2: 162,929,246 (GRCm39) |
Q79R |
probably benign |
Het |
| Hapln4 |
T |
C |
8: 70,540,930 (GRCm39) |
L321P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,771,309 (GRCm39) |
T1024A |
probably benign |
Het |
| Hps5 |
A |
G |
7: 46,438,605 (GRCm39) |
S43P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,253 (GRCm39) |
Y643H |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,968,274 (GRCm39) |
R1472H |
probably benign |
Het |
| Lhx9 |
A |
G |
1: 138,767,744 (GRCm39) |
Y73H |
possibly damaging |
Het |
| Loxl1 |
T |
A |
9: 58,219,415 (GRCm39) |
Q252L |
probably damaging |
Het |
| Lrrc37 |
A |
C |
11: 103,504,512 (GRCm39) |
I2485M |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,037 (GRCm39) |
V46D |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,973,840 (GRCm39) |
S260G |
possibly damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,835 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5i1 |
C |
G |
2: 87,613,049 (GRCm39) |
P55R |
possibly damaging |
Het |
| Or5p63 |
A |
C |
7: 107,811,210 (GRCm39) |
N175K |
possibly damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,575 (GRCm39) |
N83Y |
probably benign |
Het |
| Osbp |
T |
C |
19: 11,951,223 (GRCm39) |
V256A |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,841,936 (GRCm39) |
D4737V |
unknown |
Het |
| Pkdrej |
A |
G |
15: 85,699,831 (GRCm39) |
I2035T |
probably damaging |
Het |
| Plek2 |
A |
G |
12: 78,941,278 (GRCm39) |
S185P |
probably damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,582,117 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
T |
C |
4: 22,487,210 (GRCm39) |
T308A |
possibly damaging |
Het |
| Pramel22 |
T |
C |
4: 143,381,138 (GRCm39) |
Y295C |
probably benign |
Het |
| Pxmp4 |
A |
G |
2: 154,434,215 (GRCm39) |
V82A |
probably damaging |
Het |
| Rnf6 |
A |
T |
5: 146,148,645 (GRCm39) |
N135K |
possibly damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,382 (GRCm39) |
V819A |
probably damaging |
Het |
| Scn1a |
C |
A |
2: 66,119,406 (GRCm39) |
V1355L |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,542,160 (GRCm39) |
N754K |
probably benign |
Het |
| Serpina3b |
A |
T |
12: 104,097,030 (GRCm39) |
N104Y |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,289,122 (GRCm39) |
S648P |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,318,815 (GRCm39) |
V486I |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,722,863 (GRCm39) |
N772K |
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,988,072 (GRCm39) |
D1743E |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,383,857 (GRCm39) |
|
probably null |
Het |
| Tfb1m |
T |
C |
17: 3,605,232 (GRCm39) |
D87G |
probably damaging |
Het |
| Tll2 |
C |
T |
19: 41,086,351 (GRCm39) |
G609S |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,324,577 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
A |
G |
6: 115,545,790 (GRCm39) |
D360G |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,388,842 (GRCm39) |
P457L |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,252 (GRCm39) |
N282S |
possibly damaging |
Het |
| Vmn2r58 |
G |
A |
7: 41,511,309 (GRCm39) |
S498F |
probably benign |
Het |
| Zfp959 |
T |
C |
17: 56,205,139 (GRCm39) |
I392T |
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 |
|
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 |
|
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'- TCTGACCTTGAGTAGACCACTCACC -3'
(R):5'- GGAAAAGGCCATTTTGACTCCCCTG -3'
Sequencing Primer
(F):5'- CTCCATGCTAGAGTCTGGAAG -3'
(R):5'- TTGACTCCCCTGCAAGGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation