Incidental Mutation 'R3015:Matn3'
| ID |
257650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Matn3
|
| Ensembl Gene |
ENSMUSG00000020583 |
| Gene Name |
matrilin 3 |
| Synonyms |
|
| MMRRC Submission |
040536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R3015 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
8997929-9022028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 9002217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 143
(Q143P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020899]
|
| AlphaFold |
O35701 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020899
AA Change: Q143P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: Q143P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
VWA
|
76 |
255 |
5.06e-51 |
SMART |
|
EGF
|
257 |
300 |
2.02e-1 |
SMART |
|
EGF
|
304 |
342 |
4.1e-2 |
SMART |
|
EGF
|
346 |
384 |
4.22e-4 |
SMART |
|
EGF
|
388 |
426 |
1.21e-4 |
SMART |
|
Matrilin_ccoil
|
433 |
479 |
8.93e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.6363 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (38/38) |
| 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 is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,913 (GRCm39) |
H380R |
probably benign |
Het |
| Aff3 |
A |
T |
1: 38,249,649 (GRCm39) |
I486N |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,929,611 (GRCm39) |
F76Y |
probably damaging |
Het |
| Cfap44 |
A |
C |
16: 44,230,832 (GRCm39) |
D271A |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,270 (GRCm39) |
V34D |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,733,732 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,774,838 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,499,024 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,221 (GRCm39) |
G60S |
probably null |
Het |
| Ints9 |
T |
A |
14: 65,187,727 (GRCm39) |
W3R |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 66,993,711 (GRCm39) |
E64G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,465,512 (GRCm39) |
H1321Q |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,749,846 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
C |
14: 55,988,631 (GRCm39) |
S358P |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,384,037 (GRCm39) |
S801P |
probably damaging |
Het |
| Pax2 |
T |
C |
19: 44,804,463 (GRCm39) |
F268L |
probably damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,823,771 (GRCm39) |
I538T |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,599,107 (GRCm39) |
S214P |
probably benign |
Het |
| Ppme1 |
T |
C |
7: 99,981,084 (GRCm39) |
H352R |
probably damaging |
Het |
| Ppp1r26 |
A |
C |
2: 28,342,314 (GRCm39) |
D648A |
probably damaging |
Het |
| Prom1 |
C |
A |
5: 44,191,733 (GRCm39) |
V337F |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,028,717 (GRCm39) |
I378T |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,661,675 (GRCm39) |
S43P |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,480 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
T |
2: 66,530,240 (GRCm39) |
Q702K |
probably benign |
Het |
| Shisal2b |
T |
A |
13: 104,994,899 (GRCm39) |
I83F |
possibly damaging |
Het |
| Slc2a1 |
T |
A |
4: 118,989,340 (GRCm39) |
N13K |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,715,829 (GRCm39) |
I864V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,650 (GRCm39) |
M196K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Umod |
T |
C |
7: 119,071,763 (GRCm39) |
D326G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,890 (GRCm39) |
D492G |
unknown |
Het |
| Vash1 |
A |
G |
12: 86,732,194 (GRCm39) |
T126A |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,116,881 (GRCm39) |
I574K |
possibly damaging |
Het |
|
| Other mutations in Matn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01814:Matn3
|
APN |
12 |
9,002,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02138:Matn3
|
APN |
12 |
9,017,638 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02442:Matn3
|
APN |
12 |
9,017,678 (GRCm39) |
nonsense |
probably null |
|
|
IGL02736:Matn3
|
APN |
12 |
9,005,422 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0091:Matn3
|
UTSW |
12 |
9,002,105 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0585:Matn3
|
UTSW |
12 |
9,011,103 (GRCm39) |
splice site |
probably benign |
|
|
R0615:Matn3
|
UTSW |
12 |
9,013,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Matn3
|
UTSW |
12 |
9,011,132 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1571:Matn3
|
UTSW |
12 |
9,005,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Matn3
|
UTSW |
12 |
9,017,662 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1865:Matn3
|
UTSW |
12 |
9,002,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Matn3
|
UTSW |
12 |
9,011,110 (GRCm39) |
splice site |
probably benign |
|
|
R3018:Matn3
|
UTSW |
12 |
9,013,578 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5180:Matn3
|
UTSW |
12 |
9,005,374 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5308:Matn3
|
UTSW |
12 |
9,002,308 (GRCm39) |
frame shift |
probably null |
|
|
R5616:Matn3
|
UTSW |
12 |
8,998,195 (GRCm39) |
missense |
probably benign |
|
|
R5816:Matn3
|
UTSW |
12 |
9,020,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Matn3
|
UTSW |
12 |
9,008,829 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7065:Matn3
|
UTSW |
12 |
9,002,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7206:Matn3
|
UTSW |
12 |
9,011,170 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8512:Matn3
|
UTSW |
12 |
9,011,183 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8737:Matn3
|
UTSW |
12 |
9,017,665 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8951:Matn3
|
UTSW |
12 |
9,002,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9022:Matn3
|
UTSW |
12 |
9,002,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Matn3
|
UTSW |
12 |
9,002,033 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
RF001:Matn3
|
UTSW |
12 |
9,008,797 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATCATTGATAGTTCTCGTAGCG -3'
(R):5'- CATACAGCTCAATGCCAGATGC -3'
Sequencing Primer
(F):5'- ATAGTTCTCGTAGCGTCCGGC -3'
(R):5'- TCGAGCAGCCACCTCATTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation