Incidental Mutation 'R8072:Col10a1'
| ID |
620295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col10a1
|
| Ensembl Gene |
ENSMUSG00000039462 |
| Gene Name |
collagen, type X, alpha 1 |
| Synonyms |
Col10, Col10a-1 |
| MMRRC Submission |
067507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R8072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
34265977-34273081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34266663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 16
(V16F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047885]
[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 |
unknown
Transcript: ENSMUST00000105511
AA Change: V16F
|
| SMART Domains |
Protein: ENSMUSP00000101150
Gene: ENSMUSG00000039462
AA Change: V16F
| 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 |
probably benign
Transcript: ENSMUST00000213269
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,244,574 (GRCm39) |
S2146P |
probably benign |
Het |
| Acad9 |
G |
A |
3: 36,129,404 (GRCm39) |
V160I |
probably benign |
Het |
| Ace |
T |
C |
11: 105,863,785 (GRCm39) |
V411A |
probably damaging |
Het |
| Ankrd66 |
T |
C |
17: 43,854,526 (GRCm39) |
E2G |
possibly damaging |
Het |
| Apol6 |
A |
T |
15: 76,935,303 (GRCm39) |
T191S |
probably benign |
Het |
| Arhgef17 |
T |
A |
7: 100,531,004 (GRCm39) |
T352S |
probably benign |
Het |
| Atad2 |
C |
T |
15: 57,963,374 (GRCm39) |
R1081Q |
possibly damaging |
Het |
| Atg3 |
G |
T |
16: 45,008,048 (GRCm39) |
V297F |
probably damaging |
Het |
| Atp9b |
A |
C |
18: 80,808,276 (GRCm39) |
S663A |
|
Het |
| Col3a1 |
G |
A |
1: 45,360,734 (GRCm39) |
V55I |
unknown |
Het |
| Ctns |
T |
C |
11: 73,082,572 (GRCm39) |
T53A |
probably benign |
Het |
| Cyp2b23 |
A |
T |
7: 26,365,431 (GRCm39) |
I468N |
probably damaging |
Het |
| Dcbld2 |
G |
A |
16: 58,283,460 (GRCm39) |
W565* |
probably null |
Het |
| Esco2 |
A |
T |
14: 66,070,130 (GRCm39) |
N16K |
probably benign |
Het |
| Fggy |
A |
G |
4: 95,732,394 (GRCm39) |
N462D |
possibly damaging |
Het |
| Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
T |
C |
1: 166,322,241 (GRCm39) |
T109A |
probably benign |
Het |
| H2-M11 |
G |
T |
17: 36,859,026 (GRCm39) |
V189L |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,532,256 (GRCm39) |
T3175S |
possibly damaging |
Het |
| Hook2 |
G |
A |
8: 85,721,120 (GRCm39) |
V184M |
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,741,178 (GRCm39) |
D730V |
probably damaging |
Het |
| Igkv4-68 |
C |
T |
6: 69,282,113 (GRCm39) |
M19I |
probably benign |
Het |
| Igsf9b |
C |
A |
9: 27,228,660 (GRCm39) |
T140N |
possibly damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,308,593 (GRCm39) |
R339Q |
probably damaging |
Het |
| Lcn8 |
T |
G |
2: 25,545,184 (GRCm39) |
L118W |
probably damaging |
Het |
| Lin28a |
A |
G |
4: 133,745,453 (GRCm39) |
F47L |
possibly damaging |
Het |
| Loxl4 |
T |
C |
19: 42,596,021 (GRCm39) |
E144G |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,895 (GRCm39) |
E6* |
probably null |
Het |
| Mthfsd |
A |
C |
8: 121,825,555 (GRCm39) |
Y339D |
probably damaging |
Het |
| Mup11 |
A |
T |
4: 60,615,777 (GRCm39) |
F153L |
probably damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,278,717 (GRCm39) |
V566M |
probably benign |
Het |
| Plpp7 |
G |
T |
2: 31,986,121 (GRCm39) |
A100S |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,774 (GRCm39) |
T300A |
possibly damaging |
Het |
| Ptprd |
A |
G |
4: 76,004,273 (GRCm39) |
F161L |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,007,930 (GRCm39) |
A875V |
possibly damaging |
Het |
| Rhd |
A |
G |
4: 134,611,460 (GRCm39) |
T207A |
possibly damaging |
Het |
| Sh2d3c |
C |
T |
2: 32,643,150 (GRCm39) |
R778C |
probably damaging |
Het |
| Slc34a3 |
A |
C |
2: 25,119,289 (GRCm39) |
V527G |
probably benign |
Het |
| Smad2 |
T |
C |
18: 76,420,022 (GRCm39) |
|
probably null |
Het |
| Sp110 |
GTACT |
GTACTACT |
1: 85,515,207 (GRCm39) |
|
probably benign |
Het |
| Spata21 |
C |
T |
4: 140,839,317 (GRCm39) |
Q611* |
probably null |
Het |
| Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
| Tial1 |
T |
C |
7: 128,044,194 (GRCm39) |
T107A |
unknown |
Het |
| Ubxn6 |
C |
A |
17: 56,380,195 (GRCm39) |
R42L |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,947,142 (GRCm39) |
N473I |
probably damaging |
Het |
| Ythdc1 |
T |
A |
5: 86,969,133 (GRCm39) |
Y351* |
probably null |
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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- GCAGTTTCCAAACACTAGTAAGAC -3'
(R):5'- CATGCATCATTCCGCTGTAC -3'
Sequencing Primer
(F):5'- TACTCATACAACAAAAACTTTCCTCC -3'
(R):5'- CTGGAAATTATTTTGTTAAGGGGCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation