Incidental Mutation 'R8745:Col27a1'
ID |
663474 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col27a1
|
Ensembl Gene |
ENSMUSG00000045672 |
Gene Name |
collagen, type XXVII, alpha 1 |
Synonyms |
5730512J02Rik |
MMRRC Submission |
068589-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8745 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63144153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 614
(S614P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
|
AlphaFold |
Q5QNQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036300
AA Change: S614P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000043816 Gene: ENSMUSG00000045672 AA Change: S614P
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: 99.2%
- 20x: 96.5%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
A |
G |
19: 20,611,807 (GRCm39) |
N377S |
probably benign |
Het |
Aldh3b3 |
A |
T |
19: 4,014,890 (GRCm39) |
Y129F |
possibly damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Ankrd61 |
G |
A |
5: 143,828,237 (GRCm39) |
S246L |
possibly damaging |
Het |
Ccdc187 |
T |
A |
2: 26,170,526 (GRCm39) |
I651F |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
Cfap58 |
A |
T |
19: 47,929,553 (GRCm39) |
K5* |
probably null |
Het |
Crlf3 |
T |
A |
11: 79,955,100 (GRCm39) |
E85D |
probably damaging |
Het |
Dennd2b |
T |
A |
7: 109,156,279 (GRCm39) |
H157L |
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,221,624 (GRCm39) |
I1243V |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,999,345 (GRCm39) |
T177A |
probably benign |
Het |
Dytn |
A |
T |
1: 63,686,606 (GRCm39) |
C355S |
probably benign |
Het |
Efcab3 |
C |
T |
11: 104,749,304 (GRCm39) |
T2340M |
possibly damaging |
Het |
Ehbp1 |
T |
C |
11: 22,119,064 (GRCm39) |
N202S |
possibly damaging |
Het |
Exoc3l2 |
T |
C |
7: 19,215,212 (GRCm39) |
I491T |
unknown |
Het |
Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
Fam53a |
A |
T |
5: 33,767,781 (GRCm39) |
I43N |
probably damaging |
Het |
Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
Fn1 |
T |
C |
1: 71,676,528 (GRCm39) |
T568A |
probably benign |
Het |
Gba1 |
A |
T |
3: 89,115,180 (GRCm39) |
N404I |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,474,949 (GRCm39) |
Y536C |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,972,330 (GRCm39) |
E230V |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,555,986 (GRCm39) |
Q1046R |
probably benign |
Het |
Kctd14 |
G |
A |
7: 97,107,445 (GRCm39) |
W233* |
probably null |
Het |
Krt88 |
T |
C |
15: 101,351,460 (GRCm39) |
S156P |
possibly damaging |
Het |
L3mbtl1 |
C |
A |
2: 162,812,137 (GRCm39) |
H727Q |
probably benign |
Het |
Man1c1 |
T |
C |
4: 134,303,295 (GRCm39) |
K400E |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,452,556 (GRCm39) |
Q482L |
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,893,306 (GRCm39) |
V733A |
probably damaging |
Het |
Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
Map4k3 |
G |
A |
17: 80,944,164 (GRCm39) |
R328C |
possibly damaging |
Het |
Marchf7 |
C |
T |
2: 60,067,153 (GRCm39) |
Q558* |
probably null |
Het |
Mepe |
T |
C |
5: 104,485,525 (GRCm39) |
S222P |
possibly damaging |
Het |
Mfap3l |
A |
T |
8: 61,124,958 (GRCm39) |
N400I |
possibly damaging |
Het |
Myom3 |
T |
C |
4: 135,522,509 (GRCm39) |
|
probably null |
Het |
Nav3 |
T |
C |
10: 109,659,311 (GRCm39) |
T769A |
probably benign |
Het |
Ndufb7 |
T |
A |
8: 84,297,518 (GRCm39) |
Y58N |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,530,463 (GRCm39) |
F445L |
probably benign |
Het |
Or1e20-ps1 |
C |
A |
11: 73,324,848 (GRCm39) |
*68L |
probably null |
Het |
Or4c126 |
T |
A |
2: 89,824,076 (GRCm39) |
M113K |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,408 (GRCm39) |
I275V |
possibly damaging |
Het |
Ovch2 |
G |
A |
7: 107,389,584 (GRCm39) |
S321F |
possibly damaging |
Het |
Pamr1 |
T |
C |
2: 102,441,924 (GRCm39) |
L171P |
probably damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,828,974 (GRCm39) |
V474A |
possibly damaging |
Het |
Pcgf6 |
A |
G |
19: 47,039,159 (GRCm39) |
S34P |
probably benign |
Het |
Pitrm1 |
C |
T |
13: 6,603,238 (GRCm39) |
P96L |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,931,755 (GRCm39) |
F945L |
probably damaging |
Het |
Ranbp1 |
A |
G |
16: 18,065,244 (GRCm39) |
S21P |
possibly damaging |
Het |
Rasgrp2 |
G |
T |
19: 6,463,949 (GRCm39) |
R549L |
probably damaging |
Het |
Rassf10 |
T |
A |
7: 112,554,083 (GRCm39) |
L228Q |
probably damaging |
Het |
Rho |
A |
T |
6: 115,912,483 (GRCm39) |
I275F |
probably damaging |
Het |
Rrp9 |
T |
C |
9: 106,361,657 (GRCm39) |
V400A |
possibly damaging |
Het |
Satb2 |
A |
G |
1: 57,008,796 (GRCm39) |
L62P |
unknown |
Het |
Scmh1 |
T |
A |
4: 120,362,559 (GRCm39) |
L265* |
probably null |
Het |
Scn7a |
A |
G |
2: 66,510,526 (GRCm39) |
M1292T |
probably benign |
Het |
Serpinb10 |
A |
T |
1: 107,474,542 (GRCm39) |
T235S |
probably benign |
Het |
Serpinb6c |
A |
G |
13: 34,064,702 (GRCm39) |
V214A |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,550,816 (GRCm39) |
I616T |
possibly damaging |
Het |
Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,103,932 (GRCm39) |
S22T |
probably benign |
Het |
Spata6 |
T |
C |
4: 111,636,476 (GRCm39) |
F256L |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
Tdpoz4 |
A |
T |
3: 93,704,221 (GRCm39) |
T173S |
probably benign |
Het |
Tex9 |
T |
C |
9: 72,389,778 (GRCm39) |
I111V |
probably benign |
Het |
Tigd4 |
A |
G |
3: 84,501,874 (GRCm39) |
I264V |
probably benign |
Het |
Tmem182 |
C |
T |
1: 40,877,536 (GRCm39) |
A137V |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,338,745 (GRCm39) |
I385V |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,773,202 (GRCm39) |
F542L |
|
Het |
Tpbpa |
G |
A |
13: 61,087,778 (GRCm39) |
T86I |
possibly damaging |
Het |
Trappc14 |
A |
G |
5: 138,261,327 (GRCm39) |
|
probably null |
Het |
Ubr5 |
G |
A |
15: 38,025,039 (GRCm39) |
P573L |
|
Het |
Usp54 |
A |
G |
14: 20,612,176 (GRCm39) |
I880T |
probably benign |
Het |
Vmn1r9 |
A |
G |
6: 57,048,767 (GRCm39) |
I281V |
probably benign |
Het |
Zfp456 |
C |
A |
13: 67,515,373 (GRCm39) |
C111F |
possibly 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 |
|
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 |
|
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'- GCTTTAACTCCTGCTGGAAGC -3'
(R):5'- CTGCTAAGACAGTAAGGCCAAG -3'
Sequencing Primer
(F):5'- TCTCAGCCCTGGGAAGTCAG -3'
(R):5'- GAAGTTGGGGCCCAAACTAACTC -3'
|
Posted On |
2021-03-08 |