Incidental Mutation 'R5411:Col27a1'
| ID |
427458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col27a1
|
| Ensembl Gene |
ENSMUSG00000045672 |
| Gene Name |
collagen, type XXVII, alpha 1 |
| Synonyms |
5730512J02Rik |
| MMRRC Submission |
042980-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5411 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63142902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 197
(S197P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
|
| AlphaFold |
Q5QNQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036300
AA Change: S197P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: S197P
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
C |
A |
9: 53,493,946 (GRCm39) |
V392F |
probably damaging |
Het |
| Ache |
C |
T |
5: 137,288,326 (GRCm39) |
P11S |
possibly damaging |
Het |
| Ache |
T |
A |
5: 137,288,692 (GRCm39) |
|
probably null |
Het |
| Acoxl |
A |
T |
2: 127,696,821 (GRCm39) |
H23L |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,306,650 (GRCm39) |
|
probably null |
Het |
| Adar |
T |
A |
3: 89,646,519 (GRCm39) |
F45I |
probably benign |
Het |
| Adgrf4 |
A |
C |
17: 42,978,104 (GRCm39) |
L413R |
probably damaging |
Het |
| Atp6v1g3 |
A |
T |
1: 138,215,627 (GRCm39) |
I96F |
probably benign |
Het |
| Brsk2 |
T |
C |
7: 141,554,594 (GRCm39) |
M653T |
probably benign |
Het |
| Cacna1s |
G |
T |
1: 136,033,549 (GRCm39) |
V1275L |
probably benign |
Het |
| Ces3b |
T |
C |
8: 105,815,264 (GRCm39) |
V5A |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,312,969 (GRCm39) |
I281N |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,270,553 (GRCm39) |
E175G |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,960,471 (GRCm39) |
R3315W |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,091,914 (GRCm39) |
E443G |
probably damaging |
Het |
| Dhx9 |
G |
T |
1: 153,356,969 (GRCm39) |
S93R |
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,676 (GRCm39) |
H112R |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,843,887 (GRCm39) |
N486K |
probably damaging |
Het |
| Esp8 |
C |
T |
17: 40,840,909 (GRCm39) |
R57* |
probably null |
Het |
| Eya3 |
A |
T |
4: 132,417,090 (GRCm39) |
I130F |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,143,052 (GRCm39) |
L4266I |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,793,019 (GRCm39) |
D983E |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,106,791 (GRCm39) |
S640P |
probably damaging |
Het |
| Gys2 |
C |
T |
6: 142,394,147 (GRCm39) |
G464R |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 51,935,026 (GRCm39) |
T1659I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,403 (GRCm39) |
D518G |
probably damaging |
Het |
| Kcnk13 |
A |
G |
12: 100,027,510 (GRCm39) |
Y195C |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,782 (GRCm39) |
H722L |
probably damaging |
Het |
| Luzp1 |
C |
A |
4: 136,270,653 (GRCm39) |
Q959K |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,219,306 (GRCm39) |
H153Q |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,599,346 (GRCm39) |
I381F |
probably benign |
Het |
| Mvk |
A |
G |
5: 114,597,034 (GRCm39) |
T334A |
probably benign |
Het |
| Naa30 |
T |
C |
14: 49,425,008 (GRCm39) |
V320A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,382,254 (GRCm39) |
G152S |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,185,384 (GRCm39) |
S949R |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,699,046 (GRCm39) |
I214N |
possibly damaging |
Het |
| Nsf |
G |
T |
11: 103,773,637 (GRCm39) |
N292K |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,653,945 (GRCm39) |
T505A |
probably benign |
Het |
| Or4c1 |
A |
C |
2: 89,133,920 (GRCm39) |
S5R |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,605 (GRCm39) |
T5A |
probably benign |
Het |
| Or5h24 |
T |
A |
16: 58,919,067 (GRCm39) |
H96L |
unknown |
Het |
| Or9s23 |
A |
T |
1: 92,501,546 (GRCm39) |
T218S |
probably benign |
Het |
| P4ha3 |
A |
T |
7: 99,943,022 (GRCm39) |
R136W |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,067,142 (GRCm39) |
V550A |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,532,387 (GRCm39) |
D16G |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,088,207 (GRCm39) |
M1K |
probably null |
Het |
| Rab3gap2 |
A |
G |
1: 185,009,342 (GRCm39) |
|
probably null |
Het |
| Sco1 |
A |
G |
11: 66,954,784 (GRCm39) |
D263G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sfpq |
T |
A |
4: 126,915,516 (GRCm39) |
S103T |
unknown |
Het |
| Shisa7 |
G |
A |
7: 4,832,975 (GRCm39) |
R263C |
probably damaging |
Het |
| Ssc4d |
T |
A |
5: 135,992,254 (GRCm39) |
D144V |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 36,950,213 (GRCm39) |
P1044L |
probably damaging |
Het |
| Tgm6 |
G |
A |
2: 129,987,116 (GRCm39) |
R528Q |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,849,992 (GRCm39) |
H892Q |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,082,035 (GRCm39) |
H406R |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,345,397 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
A |
G |
11: 62,174,977 (GRCm39) |
I139M |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,681,959 (GRCm39) |
N3004S |
probably damaging |
Het |
| Wdr3 |
C |
A |
3: 100,050,300 (GRCm39) |
G746W |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,744,165 (GRCm39) |
Q500L |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,820,071 (GRCm39) |
D961E |
probably benign |
Het |
| Zkscan16 |
CTTCAGCTTTCA |
CTTCA |
4: 58,956,745 (GRCm39) |
|
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 |
|
|
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'- TGCAACTGGGTCTGCAGTTC -3'
(R):5'- GCTGGTTCAGGATGCAAAGC -3'
Sequencing Primer
(F):5'- AGGACGATCATCCACCTGG -3'
(R):5'- TGGGCCAGAGTCCCAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation