Incidental Mutation 'R6848:Col27a1'
ID |
534848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col27a1
|
Ensembl Gene |
ENSMUSG00000045672 |
Gene Name |
collagen, type XXVII, alpha 1 |
Synonyms |
5730512J02Rik |
MMRRC Submission |
045022-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6848 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63220608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 182
(S182P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
[ENSMUST00000183913]
[ENSMUST00000184067]
|
AlphaFold |
Q5QNQ9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000036300
AA Change: S1118P
|
SMART Domains |
Protein: ENSMUSP00000043816 Gene: ENSMUSG00000045672 AA Change: S1118P
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
AA Change: S182P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139182 Gene: ENSMUSG00000045672 AA Change: S182P
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 |
unknown
Transcript: ENSMUST00000184067
AA Change: S503P
|
SMART Domains |
Protein: ENSMUSP00000139173 Gene: ENSMUSG00000045672 AA Change: S503P
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: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
98% (54/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,775,487 (GRCm39) |
N290S |
probably damaging |
Het |
Acox3 |
G |
T |
5: 35,749,528 (GRCm39) |
G218C |
probably damaging |
Het |
Acsf3 |
G |
A |
8: 123,517,329 (GRCm39) |
G375D |
probably damaging |
Het |
Adamts9 |
G |
T |
6: 92,840,335 (GRCm39) |
N568K |
possibly damaging |
Het |
Akr1cl |
G |
A |
1: 65,063,928 (GRCm39) |
T87I |
probably damaging |
Het |
Brcc3dc |
A |
T |
10: 108,535,451 (GRCm39) |
V168E |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Casp16 |
A |
T |
17: 23,770,053 (GRCm39) |
C175* |
probably null |
Het |
Cast |
T |
C |
13: 74,844,052 (GRCm39) |
K694R |
possibly damaging |
Het |
Cep70 |
G |
A |
9: 99,144,954 (GRCm39) |
R100H |
probably benign |
Het |
Cep72 |
C |
T |
13: 74,186,395 (GRCm39) |
A259T |
possibly damaging |
Het |
Chsy1 |
T |
A |
7: 65,820,785 (GRCm39) |
M340K |
probably damaging |
Het |
Crlf2 |
A |
C |
5: 109,704,897 (GRCm39) |
F103V |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,159,632 (GRCm39) |
N652S |
probably benign |
Het |
Ephx4 |
G |
A |
5: 107,574,784 (GRCm39) |
G274D |
probably damaging |
Het |
Fer |
T |
A |
17: 64,298,601 (GRCm39) |
F517I |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,813,131 (GRCm39) |
H3150L |
probably benign |
Het |
Gata3 |
T |
A |
2: 9,863,339 (GRCm39) |
N392Y |
possibly damaging |
Het |
Gria4 |
C |
T |
9: 4,793,822 (GRCm39) |
V79M |
probably damaging |
Het |
Grk3 |
A |
C |
5: 113,133,641 (GRCm39) |
N60K |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
G |
7: 67,653,927 (GRCm39) |
I155R |
probably damaging |
Het |
Igsf9 |
T |
C |
1: 172,323,329 (GRCm39) |
L681P |
probably damaging |
Het |
Intu |
T |
C |
3: 40,648,685 (GRCm39) |
M789T |
probably benign |
Het |
Kit |
A |
T |
5: 75,767,872 (GRCm39) |
Q85L |
probably benign |
Het |
Klhdc2 |
T |
A |
12: 69,355,750 (GRCm39) |
C325* |
probably null |
Het |
Mcidas |
A |
G |
13: 113,130,419 (GRCm39) |
E5G |
probably benign |
Het |
Mcm5 |
G |
T |
8: 75,853,918 (GRCm39) |
R724L |
possibly damaging |
Het |
Nrbp2 |
G |
A |
15: 75,963,332 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
A |
G |
8: 32,308,084 (GRCm39) |
I655T |
probably damaging |
Het |
Nsun4 |
T |
C |
4: 115,910,131 (GRCm39) |
D143G |
possibly damaging |
Het |
Opn3 |
C |
T |
1: 175,490,615 (GRCm39) |
V349M |
probably damaging |
Het |
Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
Or5d47 |
A |
T |
2: 87,804,514 (GRCm39) |
V165E |
possibly damaging |
Het |
Or6d14 |
T |
C |
6: 116,533,736 (GRCm39) |
S117P |
probably damaging |
Het |
Pank2 |
C |
A |
2: 131,124,546 (GRCm39) |
L297I |
probably damaging |
Het |
Pcdh20 |
T |
A |
14: 88,704,690 (GRCm39) |
E870V |
probably benign |
Het |
Pdcd6 |
T |
A |
13: 74,457,959 (GRCm39) |
M71L |
possibly damaging |
Het |
Phkb |
A |
T |
8: 86,756,246 (GRCm39) |
I847F |
probably damaging |
Het |
Psmb1 |
A |
G |
17: 15,697,509 (GRCm39) |
F202S |
probably benign |
Het |
Pwp2 |
C |
G |
10: 78,020,127 (GRCm39) |
|
probably null |
Het |
Rbms3 |
A |
G |
9: 117,080,809 (GRCm39) |
Y21H |
probably damaging |
Het |
Rhbdl1 |
T |
A |
17: 26,055,158 (GRCm39) |
K17* |
probably null |
Het |
Rp1l1 |
C |
A |
14: 64,265,667 (GRCm39) |
Q418K |
possibly damaging |
Het |
Scpppq1 |
A |
G |
5: 104,222,603 (GRCm39) |
|
probably benign |
Het |
Slc22a4 |
A |
T |
11: 53,898,615 (GRCm39) |
V159E |
possibly damaging |
Het |
Spata31d1a |
T |
C |
13: 59,849,777 (GRCm39) |
T784A |
possibly damaging |
Het |
Tll1 |
A |
G |
8: 64,551,544 (GRCm39) |
M279T |
probably damaging |
Het |
Tmem163 |
A |
T |
1: 127,479,117 (GRCm39) |
V134D |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,409,958 (GRCm38) |
N875S |
possibly damaging |
Het |
Tpd52l1 |
T |
C |
10: 31,208,853 (GRCm39) |
E205G |
probably benign |
Het |
Tpsb2 |
T |
A |
17: 25,586,802 (GRCm39) |
Y271* |
probably null |
Het |
Ugt3a1 |
G |
A |
15: 9,280,138 (GRCm39) |
|
probably null |
Het |
Vmn2r67 |
T |
C |
7: 84,801,840 (GRCm39) |
M154V |
probably benign |
Het |
Zfp740 |
T |
G |
15: 102,117,243 (GRCm39) |
I89S |
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 |
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 |
|
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'- ACTGGGGTTCACTTGGATGC -3'
(R):5'- TGTCCTGCATAGATGTGCTATC -3'
Sequencing Primer
(F):5'- TTCACTTGGATGCAGAGGAGACC -3'
(R):5'- AGATGTGCTATCTGTAGGCTCAACC -3'
|
Posted On |
2018-09-12 |