Incidental Mutation 'P0045:Col12a1'
ID | 7721 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col12a1
|
Ensembl Gene |
ENSMUSG00000032332 |
Gene Name | collagen, type XII, alpha 1 |
Synonyms | |
MMRRC Submission |
038292-MU
|
Accession Numbers | |
Is this an essential gene? |
Possibly essential (E-score: 0.740)
|
Stock # | P0045 (G1)
|
Quality Score | |
Status |
Validated
|
Chromosome | 9 |
Chromosomal Location | 79598991-79718831 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to G
at 79647611 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Serine to Proline
at position 2062
(S2062P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112604
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071750]
[ENSMUST00000121227]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071750
AA Change: S2062P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000071662 Gene: ENSMUSG00000032332 AA Change: S2062P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
FN3
|
25 |
103 |
2.29e-10 |
SMART |
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
VWA
|
138 |
317 |
4e-63 |
SMART |
FN3
|
334 |
413 |
1.47e-8 |
SMART |
VWA
|
438 |
617 |
2.41e-57 |
SMART |
FN3
|
632 |
710 |
1.62e-10 |
SMART |
FN3
|
723 |
801 |
2.91e-12 |
SMART |
FN3
|
814 |
892 |
6.05e-10 |
SMART |
FN3
|
905 |
984 |
2.74e-8 |
SMART |
FN3
|
995 |
1074 |
1.24e-6 |
SMART |
FN3
|
1087 |
1166 |
5.78e-7 |
SMART |
VWA
|
1197 |
1376 |
2.02e-59 |
SMART |
FN3
|
1385 |
1463 |
1.13e-9 |
SMART |
FN3
|
1474 |
1554 |
1.07e-10 |
SMART |
FN3
|
1566 |
1643 |
3.73e-10 |
SMART |
FN3
|
1655 |
1734 |
2.94e-8 |
SMART |
FN3
|
1755 |
1834 |
1.54e-11 |
SMART |
FN3
|
1846 |
1924 |
1.45e-7 |
SMART |
FN3
|
1936 |
2015 |
1.47e-8 |
SMART |
FN3
|
2027 |
2106 |
1.21e-9 |
SMART |
FN3
|
2118 |
2195 |
2.14e-10 |
SMART |
FN3
|
2206 |
2285 |
3.85e-3 |
SMART |
low complexity region
|
2292 |
2314 |
N/A |
INTRINSIC |
VWA
|
2323 |
2503 |
2.61e-53 |
SMART |
TSPN
|
2522 |
2714 |
1.13e-76 |
SMART |
Pfam:Collagen
|
2747 |
2804 |
1.7e-8 |
PFAM |
Pfam:Collagen
|
2802 |
2855 |
6.5e-9 |
PFAM |
Pfam:Collagen
|
2844 |
2904 |
1.1e-9 |
PFAM |
Pfam:Collagen
|
2939 |
2994 |
4.6e-8 |
PFAM |
low complexity region
|
3011 |
3044 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121227
AA Change: S2062P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112604 Gene: ENSMUSG00000032332 AA Change: S2062P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
FN3
|
25 |
103 |
2.29e-10 |
SMART |
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
VWA
|
138 |
317 |
4e-63 |
SMART |
FN3
|
334 |
413 |
1.47e-8 |
SMART |
VWA
|
438 |
617 |
2.41e-57 |
SMART |
FN3
|
632 |
710 |
1.62e-10 |
SMART |
FN3
|
723 |
801 |
2.91e-12 |
SMART |
FN3
|
814 |
892 |
6.05e-10 |
SMART |
FN3
|
905 |
984 |
2.74e-8 |
SMART |
FN3
|
995 |
1074 |
1.24e-6 |
SMART |
FN3
|
1087 |
1166 |
5.78e-7 |
SMART |
VWA
|
1197 |
1376 |
2.02e-59 |
SMART |
FN3
|
1385 |
1463 |
1.13e-9 |
SMART |
FN3
|
1474 |
1554 |
1.07e-10 |
SMART |
FN3
|
1566 |
1643 |
3.73e-10 |
SMART |
FN3
|
1655 |
1734 |
2.94e-8 |
SMART |
FN3
|
1755 |
1834 |
1.54e-11 |
SMART |
FN3
|
1846 |
1924 |
1.45e-7 |
SMART |
FN3
|
1936 |
2015 |
1.47e-8 |
SMART |
FN3
|
2027 |
2106 |
1.21e-9 |
SMART |
FN3
|
2118 |
2195 |
2.14e-10 |
SMART |
FN3
|
2206 |
2285 |
3.85e-3 |
SMART |
low complexity region
|
2292 |
2314 |
N/A |
INTRINSIC |
VWA
|
2323 |
2503 |
2.61e-53 |
SMART |
TSPN
|
2522 |
2714 |
1.13e-76 |
SMART |
Pfam:Collagen
|
2747 |
2804 |
4.7e-9 |
PFAM |
Pfam:Collagen
|
2802 |
2861 |
2.9e-9 |
PFAM |
Pfam:Collagen
|
2838 |
2900 |
7.1e-8 |
PFAM |
Pfam:Collagen
|
2935 |
2990 |
1.3e-8 |
PFAM |
low complexity region
|
3007 |
3040 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3818
|
Coding Region Coverage |
- 1x: 79.8%
- 3x: 69.7%
- 10x: 39.8%
- 20x: 17.7%
|
Validation Efficiency |
80% (82/102) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2b1 |
T |
A |
11: 83,368,026 |
N736K |
probably damaging |
Het |
Chsy3 |
C |
A |
18: 59,409,006 |
Y405* |
probably null |
Het |
Ddx42 |
T |
A |
11: 106,231,272 |
D204E |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,030,327 |
V2328A |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,918,199 |
K876E |
probably damaging |
Het |
Immt |
T |
G |
6: 71,868,617 |
I404M |
possibly damaging |
Het |
Kcp |
A |
G |
6: 29,498,348 |
V403A |
probably damaging |
Het |
Litaf |
C |
T |
16: 10,963,365 |
R90H |
probably benign |
Het |
Med12l |
T |
A |
3: 59,091,535 |
S639T |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,288,097 |
M1091K |
probably damaging |
Het |
Pramel1 |
C |
T |
4: 143,398,522 |
R339* |
probably null |
Het |
Prss32 |
A |
G |
17: 23,859,320 |
S327G |
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,851,167 |
|
probably benign |
Het |
Tpm3 |
T |
C |
3: 90,091,093 |
|
probably null |
Het |
Ubac2 |
T |
C |
14: 121,973,596 |
|
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,156,945 |
E117G |
possibly damaging |
Het |
|
Other mutations in Col12a1 |
|
Posted On | 2012-10-29 |