Incidental Mutation 'IGL00922:Matn1'
| ID |
27242 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Matn1
|
| Ensembl Gene |
ENSMUSG00000040533 |
| Gene Name |
matrilin 1, cartilage matrix protein |
| Synonyms |
Mat1, CMP, Crtm, matrilin-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00922
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
130671696-130682786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130680285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 454
(Q454L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102576]
|
| AlphaFold |
P51942 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102576
AA Change: Q454L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: Q454L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
VWA
|
43 |
225 |
5.5e-52 |
SMART |
|
EGF
|
230 |
267 |
2.79e-4 |
SMART |
|
VWA
|
277 |
456 |
1.76e-59 |
SMART |
|
Matrilin_ccoil
|
454 |
500 |
1.8e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
T |
C |
5: 115,085,236 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,789,398 (GRCm39) |
M1518K |
probably damaging |
Het |
| Baiap2l1 |
C |
T |
5: 144,255,777 (GRCm39) |
G59D |
probably damaging |
Het |
| BC051019 |
C |
A |
7: 109,319,883 (GRCm39) |
C60F |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,892,111 (GRCm39) |
Y135C |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,824,163 (GRCm39) |
S535T |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,306,491 (GRCm39) |
|
probably null |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,866 (GRCm39) |
D605V |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,761,875 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,010,509 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,281,866 (GRCm39) |
V4E |
probably damaging |
Het |
| Dnajc22 |
T |
G |
15: 98,999,460 (GRCm39) |
L215R |
possibly damaging |
Het |
| Drc7 |
G |
A |
8: 95,804,606 (GRCm39) |
V874I |
probably benign |
Het |
| Foxa2 |
A |
C |
2: 147,886,738 (GRCm39) |
S26A |
possibly damaging |
Het |
| Gal |
A |
T |
19: 3,461,575 (GRCm39) |
V70E |
probably benign |
Het |
| Gjb4 |
T |
C |
4: 127,245,146 (GRCm39) |
Y265C |
probably benign |
Het |
| Hc |
A |
G |
2: 34,881,680 (GRCm39) |
S1423P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,834,730 (GRCm39) |
E532G |
possibly damaging |
Het |
| Map3k6 |
C |
T |
4: 132,970,355 (GRCm39) |
|
probably benign |
Het |
| Mlxip |
A |
T |
5: 123,578,128 (GRCm39) |
N148I |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,498,546 (GRCm39) |
Y881H |
probably damaging |
Het |
| Nphp4 |
C |
T |
4: 152,621,766 (GRCm39) |
|
probably benign |
Het |
| Or6c3b |
T |
G |
10: 129,527,323 (GRCm39) |
I196L |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,735,954 (GRCm39) |
V2151D |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,432,941 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
A |
C |
3: 159,320,179 (GRCm39) |
D277A |
probably damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,044,055 (GRCm39) |
T521M |
possibly damaging |
Het |
| Slc25a30 |
A |
T |
14: 76,007,038 (GRCm39) |
Y153N |
probably damaging |
Het |
| Slc6a12 |
C |
T |
6: 121,337,414 (GRCm39) |
A366V |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,038,963 (GRCm39) |
T1367S |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,267,901 (GRCm39) |
S118R |
probably benign |
Het |
|
| Other mutations in Matn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Matn1
|
APN |
4 |
130,679,245 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01123:Matn1
|
APN |
4 |
130,677,322 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01941:Matn1
|
APN |
4 |
130,679,572 (GRCm39) |
splice site |
probably benign |
|
|
IGL02289:Matn1
|
APN |
4 |
130,679,146 (GRCm39) |
splice site |
probably benign |
|
|
IGL02297:Matn1
|
APN |
4 |
130,679,575 (GRCm39) |
splice site |
probably benign |
|
|
IGL02488:Matn1
|
APN |
4 |
130,671,804 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03493:Matn1
|
APN |
4 |
130,677,309 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0282:Matn1
|
UTSW |
4 |
130,673,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0373:Matn1
|
UTSW |
4 |
130,677,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Matn1
|
UTSW |
4 |
130,671,787 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1457:Matn1
|
UTSW |
4 |
130,677,330 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3955:Matn1
|
UTSW |
4 |
130,678,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4014:Matn1
|
UTSW |
4 |
130,679,258 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4801:Matn1
|
UTSW |
4 |
130,677,336 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4802:Matn1
|
UTSW |
4 |
130,677,336 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4887:Matn1
|
UTSW |
4 |
130,679,425 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4961:Matn1
|
UTSW |
4 |
130,680,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Matn1
|
UTSW |
4 |
130,679,277 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7868:Matn1
|
UTSW |
4 |
130,682,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Matn1
|
UTSW |
4 |
130,673,300 (GRCm39) |
nonsense |
probably null |
|
|
R8530:Matn1
|
UTSW |
4 |
130,677,447 (GRCm39) |
nonsense |
probably null |
|
|
R8726:Matn1
|
UTSW |
4 |
130,679,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Matn1
|
UTSW |
4 |
130,673,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Matn1
|
UTSW |
4 |
130,673,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-04-17 |
Incidental Mutation