Incidental Mutation 'R6036:Col10a1'
| ID |
479220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col10a1
|
| Ensembl Gene |
ENSMUSG00000039462 |
| Gene Name |
collagen, type X, alpha 1 |
| Synonyms |
Col10a-1, Col10 |
| MMRRC Submission |
043257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R6036 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
34389981-34397085 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34395282 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 417
(T417A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047885]
[ENSMUST00000099973]
[ENSMUST00000105511]
[ENSMUST00000105512]
[ENSMUST00000213269]
|
| AlphaFold |
Q05306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047885
|
| SMART Domains |
Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
382 |
2.6e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099973
|
| SMART Domains |
Protein: ENSMUSP00000097553
Gene: ENSMUSG00000039480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
189 |
8.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105511
AA Change: T417A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101150
Gene: ENSMUSG00000039462
AA Change: T417A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
101 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
103 |
155 |
1.4e-9 |
PFAM |
|
Pfam:Collagen
|
153 |
218 |
1.4e-8 |
PFAM |
|
Pfam:Collagen
|
193 |
250 |
2.6e-9 |
PFAM |
|
Pfam:Collagen
|
206 |
264 |
3.8e-8 |
PFAM |
|
low complexity region
|
282 |
323 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
329 |
361 |
2.25e-6 |
PROSPERO |
|
internal_repeat_1
|
331 |
365 |
5.9e-14 |
PROSPERO |
|
low complexity region
|
368 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
413 |
483 |
9.3e-10 |
PFAM |
|
low complexity region
|
487 |
517 |
N/A |
INTRINSIC |
|
C1Q
|
545 |
680 |
2.85e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105512
|
| SMART Domains |
Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
372 |
8.7e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213269
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.0%
- 10x: 92.6%
- 20x: 72.9%
|
| Validation Efficiency |
|
| 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 X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations may exhibit abnormal trabecular bone, thinner growth plate resting zone and articular cartilage, and altered bone content. Mice homozygous for another knock-out allele exhibit altered B and T cell populations and TH1/TH2responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
T |
C |
11: 95,832,858 (GRCm38) |
|
probably benign |
Het |
| Ago1 |
C |
T |
4: 126,443,228 (GRCm38) |
R228H |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 81,093,257 (GRCm38) |
V941M |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,982,265 (GRCm38) |
W588R |
possibly damaging |
Het |
| Atp6v1a |
A |
G |
16: 44,098,831 (GRCm38) |
Y464H |
probably benign |
Het |
| Barx2 |
A |
T |
9: 31,913,008 (GRCm38) |
D28E |
probably damaging |
Het |
| Cabp5 |
A |
T |
7: 13,401,335 (GRCm38) |
M67L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,458,920 (GRCm38) |
R2399Q |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,239,420 (GRCm38) |
S227P |
probably damaging |
Het |
| Erv3 |
G |
A |
2: 131,856,005 (GRCm38) |
H145Y |
possibly damaging |
Het |
| Exoc5 |
T |
C |
14: 49,014,322 (GRCm38) |
T591A |
possibly damaging |
Het |
| F5 |
A |
T |
1: 164,184,996 (GRCm38) |
E493V |
probably damaging |
Het |
| Gm8444 |
G |
T |
15: 81,843,593 (GRCm38) |
|
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,537,646 (GRCm38) |
I221L |
probably benign |
Het |
| Hc |
T |
C |
2: 35,039,684 (GRCm38) |
T249A |
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,068,053 (GRCm38) |
T48A |
probably benign |
Het |
| Hist1h2bl |
A |
T |
13: 21,715,978 (GRCm38) |
S56T |
probably damaging |
Het |
| Hp |
A |
G |
8: 109,576,774 (GRCm38) |
|
probably null |
Het |
| Ifna15 |
T |
G |
4: 88,558,073 (GRCm38) |
D58A |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,397,125 (GRCm38) |
M262L |
probably benign |
Het |
| Krt83 |
A |
C |
15: 101,487,531 (GRCm38) |
I320S |
possibly damaging |
Het |
| Megf10 |
A |
G |
18: 57,242,727 (GRCm38) |
N242D |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,128,411 (GRCm38) |
T451A |
probably benign |
Het |
| Olfr1277 |
C |
T |
2: 111,269,612 (GRCm38) |
G252R |
probably damaging |
Het |
| Olfr1288 |
T |
C |
2: 111,478,988 (GRCm38) |
L68P |
probably damaging |
Het |
| Olfr559 |
T |
A |
7: 102,724,485 (GRCm38) |
I2F |
probably benign |
Het |
| Olfr701 |
A |
T |
7: 106,818,460 (GRCm38) |
I126F |
probably damaging |
Het |
| Olfr930 |
A |
G |
9: 38,930,920 (GRCm38) |
I250V |
probably damaging |
Het |
| Pdzd8 |
G |
A |
19: 59,305,209 (GRCm38) |
P403S |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,114,948 (GRCm38) |
Q494* |
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,618 (GRCm38) |
E191G |
possibly damaging |
Het |
| Pou4f2 |
A |
T |
8: 78,435,474 (GRCm38) |
S167T |
probably damaging |
Het |
| Scd4 |
G |
A |
19: 44,344,792 (GRCm38) |
D319N |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 22,028,558 (GRCm38) |
R279* |
probably null |
Het |
| Sh3rf3 |
G |
A |
10: 58,813,984 (GRCm38) |
G137D |
probably benign |
Het |
| Simc1 |
C |
T |
13: 54,524,621 (GRCm38) |
P261S |
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,673,570 (GRCm38) |
D151V |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,738,437 (GRCm38) |
|
probably null |
Het |
| Stard9 |
C |
T |
2: 120,700,075 (GRCm38) |
A2271V |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,655,444 (GRCm38) |
N485D |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 145,268,869 (GRCm38) |
T280A |
possibly damaging |
Het |
| Ttc23 |
A |
G |
7: 67,711,366 (GRCm38) |
I378V |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 78,325,576 (GRCm38) |
D362G |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,940,162 (GRCm38) |
I592V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,086 (GRCm38) |
H107L |
probably benign |
Het |
| Vmn1r70 |
A |
G |
7: 10,633,903 (GRCm38) |
Q87R |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 33,146,990 (GRCm38) |
S360R |
probably damaging |
Het |
| Zfp780b |
A |
G |
7: 27,963,568 (GRCm38) |
Y521H |
probably damaging |
Het |
|
| Other mutations in Col10a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03005:Col10a1
|
APN |
10 |
34,395,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03028:Col10a1
|
APN |
10 |
34,395,016 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0580:Col10a1
|
UTSW |
10 |
34,394,952 (GRCm38) |
missense |
probably benign |
0.31 |
|
R0691:Col10a1
|
UTSW |
10 |
34,395,696 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1187:Col10a1
|
UTSW |
10 |
34,394,838 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1597:Col10a1
|
UTSW |
10 |
34,395,078 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1724:Col10a1
|
UTSW |
10 |
34,395,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1826:Col10a1
|
UTSW |
10 |
34,394,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Col10a1
|
UTSW |
10 |
34,395,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2156:Col10a1
|
UTSW |
10 |
34,395,700 (GRCm38) |
missense |
probably benign |
0.30 |
|
R3687:Col10a1
|
UTSW |
10 |
34,395,498 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4208:Col10a1
|
UTSW |
10 |
34,395,543 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4929:Col10a1
|
UTSW |
10 |
34,395,124 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5411:Col10a1
|
UTSW |
10 |
34,394,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5433:Col10a1
|
UTSW |
10 |
34,390,739 (GRCm38) |
intron |
probably benign |
|
|
R5481:Col10a1
|
UTSW |
10 |
34,395,664 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6036:Col10a1
|
UTSW |
10 |
34,395,282 (GRCm38) |
missense |
probably benign |
|
|
R6208:Col10a1
|
UTSW |
10 |
34,394,586 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6223:Col10a1
|
UTSW |
10 |
34,395,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7019:Col10a1
|
UTSW |
10 |
34,394,951 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7642:Col10a1
|
UTSW |
10 |
34,395,642 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7784:Col10a1
|
UTSW |
10 |
34,394,218 (GRCm38) |
missense |
unknown |
|
|
R8072:Col10a1
|
UTSW |
10 |
34,390,667 (GRCm38) |
missense |
unknown |
|
|
R8711:Col10a1
|
UTSW |
10 |
34,394,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Col10a1
|
UTSW |
10 |
34,395,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-06-26 |
Incidental Mutation