Incidental Mutation 'R2448:Matn4'
| ID |
248916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Matn4
|
| Ensembl Gene |
ENSMUSG00000016995 |
| Gene Name |
matrilin 4 |
| Synonyms |
matrilin-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2448 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164231313-164247080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 164243770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 24
(Q24L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017151]
[ENSMUST00000103103]
[ENSMUST00000103104]
[ENSMUST00000109358]
[ENSMUST00000109359]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017151
|
| SMART Domains |
Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007
| Domain | Start | End | E-Value | Type |
|---|
|
LAG1_DNAbind
|
66 |
204 |
4.58e-78 |
SMART |
|
BTD
|
205 |
357 |
1.23e-83 |
SMART |
|
SCOP:d1a02n1
|
383 |
475 |
3e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103103
AA Change: Q24L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
AA Change: Q24L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
34 |
209 |
8.6e-54 |
SMART |
|
EGF
|
220 |
257 |
1.04e-3 |
SMART |
|
EGF
|
261 |
298 |
3.43e-4 |
SMART |
|
EGF
|
302 |
339 |
1.85e0 |
SMART |
|
EGF
|
343 |
380 |
1.24e-1 |
SMART |
|
VWA
|
386 |
564 |
6.72e-56 |
SMART |
|
Matrilin_ccoil
|
574 |
621 |
2.39e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103104
AA Change: Q24L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
AA Change: Q24L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
34 |
209 |
8.6e-54 |
SMART |
|
EGF
|
220 |
257 |
1.04e-3 |
SMART |
|
EGF
|
261 |
298 |
3.43e-4 |
SMART |
|
EGF
|
302 |
339 |
1.85e0 |
SMART |
|
EGF
|
343 |
380 |
1.24e-1 |
SMART |
|
VWA
|
386 |
564 |
6.72e-56 |
SMART |
|
Matrilin_ccoil
|
574 |
621 |
2.39e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109356
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109358
AA Change: Q24L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995
AA Change: Q24L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
34 |
209 |
8.6e-54 |
SMART |
|
EGF
|
220 |
257 |
1.85e0 |
SMART |
|
EGF
|
261 |
298 |
1.24e-1 |
SMART |
|
VWA
|
304 |
482 |
6.72e-56 |
SMART |
|
Matrilin_ccoil
|
492 |
539 |
2.39e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109359
AA Change: Q24L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
AA Change: Q24L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
34 |
209 |
8.6e-54 |
SMART |
|
EGF
|
220 |
257 |
3.43e-4 |
SMART |
|
EGF
|
261 |
298 |
1.85e0 |
SMART |
|
EGF
|
302 |
339 |
1.24e-1 |
SMART |
|
VWA
|
345 |
523 |
6.72e-56 |
SMART |
|
Matrilin_ccoil
|
533 |
580 |
2.39e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154940
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| 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. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
A |
7: 82,148,956 (GRCm39) |
I330N |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,741,080 (GRCm39) |
E784G |
probably damaging |
Het |
| Dis3 |
T |
C |
14: 99,324,848 (GRCm39) |
T528A |
probably damaging |
Het |
| Haus6 |
A |
T |
4: 86,507,238 (GRCm39) |
C453S |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,351,102 (GRCm39) |
|
probably null |
Het |
| Mmut |
T |
C |
17: 41,269,732 (GRCm39) |
V697A |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,268,878 (GRCm39) |
|
probably null |
Het |
| Nell1 |
T |
A |
7: 50,506,135 (GRCm39) |
W781R |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,310,462 (GRCm39) |
R1511Q |
possibly damaging |
Het |
| Nup160 |
C |
T |
2: 90,552,401 (GRCm39) |
R1126W |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,726 (GRCm39) |
Y240C |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,262,057 (GRCm39) |
L874P |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,444,958 (GRCm39) |
E438G |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,547,415 (GRCm39) |
Y195C |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,313,958 (GRCm39) |
P70S |
possibly damaging |
Het |
| Sdsl |
T |
C |
5: 120,596,446 (GRCm39) |
K323E |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,770,462 (GRCm39) |
V666E |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
|
| Other mutations in Matn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01745:Matn4
|
APN |
2 |
164,242,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02188:Matn4
|
APN |
2 |
164,242,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02195:Matn4
|
APN |
2 |
164,242,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Matn4
|
APN |
2 |
164,238,758 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02927:Matn4
|
APN |
2 |
164,231,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Matn4
|
UTSW |
2 |
164,242,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Matn4
|
UTSW |
2 |
164,242,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Matn4
|
UTSW |
2 |
164,239,162 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4824:Matn4
|
UTSW |
2 |
164,235,151 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4839:Matn4
|
UTSW |
2 |
164,242,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5884:Matn4
|
UTSW |
2 |
164,246,528 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5914:Matn4
|
UTSW |
2 |
164,235,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Matn4
|
UTSW |
2 |
164,242,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Matn4
|
UTSW |
2 |
164,231,584 (GRCm39) |
nonsense |
probably null |
|
|
R7679:Matn4
|
UTSW |
2 |
164,231,578 (GRCm39) |
makesense |
probably null |
|
|
R8035:Matn4
|
UTSW |
2 |
164,238,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8117:Matn4
|
UTSW |
2 |
164,241,682 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8117:Matn4
|
UTSW |
2 |
164,234,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Matn4
|
UTSW |
2 |
164,235,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Matn4
|
UTSW |
2 |
164,234,825 (GRCm39) |
missense |
|
|
|
R9079:Matn4
|
UTSW |
2 |
164,235,473 (GRCm39) |
unclassified |
probably benign |
|
|
X0063:Matn4
|
UTSW |
2 |
164,239,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTGAGGAAACAGCGCC -3'
(R):5'- ATACGCAAAGCCAGAGTGTTC -3'
Sequencing Primer
(F):5'- CGCCCGAGGGATGAAGTG -3'
(R):5'- AAGCCAGAGTGTTCATCCCCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation