Incidental Mutation 'R6036:Col10a1'
| ID |
479220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col10a1
|
| Ensembl Gene |
ENSMUSG00000039462 |
| Gene Name |
collagen, type X, alpha 1 |
| Synonyms |
Col10, Col10a-1 |
| MMRRC Submission |
043257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6036 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
34265977-34273081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34271278 bp (GRCm39)
|
| 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: 95,723,684 (GRCm39) |
|
probably benign |
Het |
| Ago1 |
C |
T |
4: 126,337,021 (GRCm39) |
R228H |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,743,005 (GRCm39) |
V941M |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,818,127 (GRCm39) |
W588R |
possibly damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,919,194 (GRCm39) |
Y464H |
probably benign |
Het |
| Barx2 |
A |
T |
9: 31,824,304 (GRCm39) |
D28E |
probably damaging |
Het |
| Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,189,420 (GRCm39) |
S227P |
probably damaging |
Het |
| Erv3 |
G |
A |
2: 131,697,925 (GRCm39) |
H145Y |
possibly damaging |
Het |
| Exoc5 |
T |
C |
14: 49,251,779 (GRCm39) |
T591A |
possibly damaging |
Het |
| F5 |
A |
T |
1: 164,012,565 (GRCm39) |
E493V |
probably damaging |
Het |
| Gm8444 |
G |
T |
15: 81,727,794 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,537,646 (GRCm39) |
I221L |
probably benign |
Het |
| H2bc13 |
A |
T |
13: 21,900,148 (GRCm39) |
S56T |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,929,696 (GRCm39) |
T249A |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,717,801 (GRCm39) |
T48A |
probably benign |
Het |
| Hp |
A |
G |
8: 110,303,406 (GRCm39) |
|
probably null |
Het |
| Ifna15 |
T |
G |
4: 88,476,310 (GRCm39) |
D58A |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,421 (GRCm39) |
M262L |
probably benign |
Het |
| Krt87 |
A |
C |
15: 101,385,412 (GRCm39) |
I320S |
possibly damaging |
Het |
| Megf10 |
A |
G |
18: 57,375,799 (GRCm39) |
N242D |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,157,895 (GRCm39) |
T451A |
probably benign |
Het |
| Or2ag2b |
A |
T |
7: 106,417,667 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4g7 |
T |
C |
2: 111,309,333 (GRCm39) |
L68P |
probably damaging |
Het |
| Or4k35 |
C |
T |
2: 111,099,957 (GRCm39) |
G252R |
probably damaging |
Het |
| Or51a25 |
T |
A |
7: 102,373,692 (GRCm39) |
I2F |
probably benign |
Het |
| Or8d23 |
A |
G |
9: 38,842,216 (GRCm39) |
I250V |
probably damaging |
Het |
| Pdzd8 |
G |
A |
19: 59,293,641 (GRCm39) |
P403S |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,248,019 (GRCm39) |
Q494* |
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,618 (GRCm39) |
E191G |
possibly damaging |
Het |
| Pou4f2 |
A |
T |
8: 79,162,103 (GRCm39) |
S167T |
probably damaging |
Het |
| Scd4 |
G |
A |
19: 44,333,231 (GRCm39) |
D319N |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 21,847,308 (GRCm39) |
R279* |
probably null |
Het |
| Sh3rf3 |
G |
A |
10: 58,649,806 (GRCm39) |
G137D |
probably benign |
Het |
| Simc1 |
C |
T |
13: 54,672,434 (GRCm39) |
P261S |
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,821,436 (GRCm39) |
D151V |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,556,301 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
T |
2: 120,530,556 (GRCm39) |
A2271V |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,491,313 (GRCm39) |
N485D |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 144,822,606 (GRCm39) |
T280A |
possibly damaging |
Het |
| Ttc23 |
A |
G |
7: 67,361,114 (GRCm39) |
I378V |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,205 (GRCm39) |
D362G |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,645,917 (GRCm39) |
I592V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,172 (GRCm39) |
H107L |
probably benign |
Het |
| Vmn1r70 |
A |
G |
7: 10,367,830 (GRCm39) |
Q87R |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 32,868,947 (GRCm39) |
S360R |
probably damaging |
Het |
| Zfp780b |
A |
G |
7: 27,662,993 (GRCm39) |
Y521H |
probably damaging |
Het |
|
| Other mutations in Col10a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03005:Col10a1
|
APN |
10 |
34,271,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Col10a1
|
APN |
10 |
34,271,012 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0580:Col10a1
|
UTSW |
10 |
34,270,948 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0691:Col10a1
|
UTSW |
10 |
34,271,692 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1187:Col10a1
|
UTSW |
10 |
34,270,834 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1597:Col10a1
|
UTSW |
10 |
34,271,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1724:Col10a1
|
UTSW |
10 |
34,271,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Col10a1
|
UTSW |
10 |
34,270,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Col10a1
|
UTSW |
10 |
34,271,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Col10a1
|
UTSW |
10 |
34,271,696 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3687:Col10a1
|
UTSW |
10 |
34,271,494 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4208:Col10a1
|
UTSW |
10 |
34,271,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4929:Col10a1
|
UTSW |
10 |
34,271,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5411:Col10a1
|
UTSW |
10 |
34,270,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Col10a1
|
UTSW |
10 |
34,266,735 (GRCm39) |
intron |
probably benign |
|
|
R5481:Col10a1
|
UTSW |
10 |
34,271,660 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6036:Col10a1
|
UTSW |
10 |
34,271,278 (GRCm39) |
missense |
probably benign |
|
|
R6208:Col10a1
|
UTSW |
10 |
34,270,582 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6223:Col10a1
|
UTSW |
10 |
34,271,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Col10a1
|
UTSW |
10 |
34,270,947 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7642:Col10a1
|
UTSW |
10 |
34,271,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7784:Col10a1
|
UTSW |
10 |
34,270,214 (GRCm39) |
missense |
unknown |
|
|
R8072:Col10a1
|
UTSW |
10 |
34,266,663 (GRCm39) |
missense |
unknown |
|
|
R8711:Col10a1
|
UTSW |
10 |
34,270,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Col10a1
|
UTSW |
10 |
34,271,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-06-26 |
Incidental Mutation