Incidental Mutation 'R0196:Col27a1'
ID |
23421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col27a1
|
Ensembl Gene |
ENSMUSG00000045672 |
Gene Name |
collagen, type XXVII, alpha 1 |
Synonyms |
5730512J02Rik |
MMRRC Submission |
038455-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0196 (G1)
|
Quality Score |
219 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63142503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 64
(T64S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
|
AlphaFold |
Q5QNQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036300
AA Change: T64S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000043816 Gene: ENSMUSG00000045672 AA Change: T64S
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
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 81.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,446,591 (GRCm39) |
|
probably benign |
Het |
Aass |
G |
A |
6: 23,109,519 (GRCm39) |
P317L |
probably damaging |
Het |
Abca12 |
T |
A |
1: 71,298,972 (GRCm39) |
N2313I |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,071,594 (GRCm39) |
I46T |
probably benign |
Het |
Adipoq |
T |
G |
16: 22,965,393 (GRCm39) |
|
probably null |
Het |
Amy1 |
A |
T |
3: 113,363,070 (GRCm39) |
D92E |
probably benign |
Het |
Asb15 |
G |
A |
6: 24,564,392 (GRCm39) |
R282Q |
probably damaging |
Het |
Bag6 |
G |
C |
17: 35,363,239 (GRCm39) |
G693A |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,887,282 (GRCm39) |
I870T |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,766,463 (GRCm39) |
K356R |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,360,076 (GRCm39) |
Q525R |
possibly damaging |
Het |
Cd4 |
T |
C |
6: 124,844,769 (GRCm39) |
R339G |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,917,066 (GRCm39) |
S350P |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,249,509 (GRCm39) |
S469T |
probably damaging |
Het |
Ckap2l |
A |
T |
2: 129,127,342 (GRCm39) |
S279T |
probably benign |
Het |
Clnk |
T |
A |
5: 38,927,282 (GRCm39) |
N66Y |
probably damaging |
Het |
Crtc1 |
T |
C |
8: 70,838,871 (GRCm39) |
D599G |
probably damaging |
Het |
Cyp2c23 |
A |
C |
19: 44,000,795 (GRCm39) |
I363S |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,911,139 (GRCm39) |
I4519F |
possibly damaging |
Het |
Dner |
T |
A |
1: 84,348,553 (GRCm39) |
I716F |
probably damaging |
Het |
Dsel |
T |
G |
1: 111,789,333 (GRCm39) |
T401P |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,861,746 (GRCm39) |
D1175G |
probably benign |
Het |
Ephb3 |
A |
T |
16: 21,036,804 (GRCm39) |
N343I |
probably damaging |
Het |
Fbxw10 |
T |
A |
11: 62,768,070 (GRCm39) |
F974I |
probably benign |
Het |
Gfi1b |
T |
C |
2: 28,503,786 (GRCm39) |
Y138C |
probably damaging |
Het |
Gm11168 |
T |
A |
9: 3,005,175 (GRCm39) |
L6H |
probably benign |
Het |
Grb10 |
A |
C |
11: 11,895,583 (GRCm39) |
V247G |
probably damaging |
Het |
Gstp2 |
A |
T |
19: 4,090,514 (GRCm39) |
|
probably null |
Het |
Hars2 |
C |
T |
18: 36,922,257 (GRCm39) |
Q291* |
probably null |
Het |
Hyal4 |
G |
T |
6: 24,756,220 (GRCm39) |
W146L |
probably damaging |
Het |
Il22ra1 |
C |
T |
4: 135,461,556 (GRCm39) |
T107I |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,209,540 (GRCm39) |
|
probably null |
Het |
Klhl25 |
T |
C |
7: 75,515,450 (GRCm39) |
S119P |
probably damaging |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lrrc8c |
T |
C |
5: 105,754,636 (GRCm39) |
V137A |
probably benign |
Het |
Macrod2 |
A |
T |
2: 142,018,545 (GRCm39) |
E226V |
probably damaging |
Het |
Mcemp1 |
A |
T |
8: 3,718,201 (GRCm39) |
Q165L |
probably benign |
Het |
Mcpt9 |
T |
A |
14: 56,265,453 (GRCm39) |
K82M |
probably benign |
Het |
Mpzl3 |
A |
G |
9: 44,973,458 (GRCm39) |
T66A |
probably damaging |
Het |
Msh6 |
G |
A |
17: 88,287,788 (GRCm39) |
V143I |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,815,684 (GRCm39) |
|
probably null |
Het |
Ncr1 |
G |
T |
7: 4,343,972 (GRCm39) |
C153F |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,359,595 (GRCm39) |
M1411K |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,469,098 (GRCm39) |
V786D |
probably damaging |
Het |
Nisch |
T |
C |
14: 30,925,351 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,963,694 (GRCm39) |
Y1093N |
probably benign |
Het |
Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
Or1e32 |
A |
T |
11: 73,705,731 (GRCm39) |
M59K |
probably damaging |
Het |
Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
Oxa1l |
T |
C |
14: 54,600,944 (GRCm39) |
I139T |
probably damaging |
Het |
P3h3 |
T |
A |
6: 124,822,235 (GRCm39) |
N583Y |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,711,147 (GRCm39) |
|
probably null |
Het |
Pcnp |
C |
T |
16: 55,844,896 (GRCm39) |
|
probably benign |
Het |
Pdzd8 |
G |
T |
19: 59,289,563 (GRCm39) |
D612E |
probably benign |
Het |
Pi4kb |
T |
C |
3: 94,906,261 (GRCm39) |
S8P |
probably damaging |
Het |
Pikfyve |
T |
G |
1: 65,295,231 (GRCm39) |
V1454G |
possibly damaging |
Het |
Podn |
T |
C |
4: 107,878,695 (GRCm39) |
N246D |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,243 (GRCm39) |
|
probably benign |
Het |
R3hdm2 |
T |
C |
10: 127,320,390 (GRCm39) |
Y523H |
probably damaging |
Het |
Rpf1 |
T |
A |
3: 146,213,904 (GRCm39) |
E231V |
possibly damaging |
Het |
Slc16a10 |
C |
T |
10: 39,932,611 (GRCm39) |
E317K |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 55,560,078 (GRCm39) |
I435F |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,344,683 (GRCm39) |
D629G |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,966,463 (GRCm39) |
I472T |
probably benign |
Het |
Trp53 |
A |
G |
11: 69,479,506 (GRCm39) |
Y202C |
probably damaging |
Het |
Ttc14 |
T |
A |
3: 33,863,403 (GRCm39) |
|
probably benign |
Het |
Ugt1a1 |
C |
T |
1: 88,140,277 (GRCm39) |
A185V |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,939,578 (GRCm39) |
D655G |
probably damaging |
Het |
Vmn1r215 |
C |
T |
13: 23,260,254 (GRCm39) |
T98I |
probably damaging |
Het |
Vmn2r121 |
G |
T |
X: 123,041,879 (GRCm39) |
T426N |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,614,835 (GRCm39) |
N852D |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,889,580 (GRCm39) |
D654E |
probably damaging |
Het |
Yju2 |
C |
A |
17: 56,271,653 (GRCm39) |
D191E |
probably damaging |
Het |
Zfp335 |
C |
G |
2: 164,738,065 (GRCm39) |
A849P |
possibly damaging |
Het |
Zfp954 |
C |
T |
7: 7,118,390 (GRCm39) |
V385M |
probably damaging |
Het |
Zmynd15 |
A |
G |
11: 70,355,052 (GRCm39) |
T350A |
probably damaging |
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 |
|
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'- TGTGCAGGGAAATGAGCTGATTACC -3'
(R):5'- ACCTTCAAACTGGACAGCACGG -3'
Sequencing Primer
(F):5'- GGAAATGAGCTGATTACCAAGTAG -3'
(R):5'- ACAGGCTGTCACCATTGTG -3'
|
Posted On |
2013-04-16 |