Incidental Mutation 'IGL02696:Matn4'
ID |
303934 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Matn4
|
Ensembl Gene |
ENSMUSG00000016995 |
Gene Name |
matrilin 4 |
Synonyms |
matrilin-4 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02696
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
164231313-164247080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 164238758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 343
(F343S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103103]
[ENSMUST00000103104]
[ENSMUST00000109358]
[ENSMUST00000109359]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103103
AA Change: F343S
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099392 Gene: ENSMUSG00000016995 AA Change: F343S
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: F343S
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099393 Gene: ENSMUSG00000016995 AA Change: F343S
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: ENSMUST00000109358
AA Change: F261S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000104982 Gene: ENSMUSG00000016995 AA Change: F261S
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: F302S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000104983 Gene: ENSMUSG00000016995 AA Change: F302S
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: ENSMUST00000154940
|
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. 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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,704,628 (GRCm39) |
T43A |
probably benign |
Het |
Adgrd1 |
T |
C |
5: 129,217,918 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
T |
A |
2: 153,242,115 (GRCm39) |
Y888* |
probably null |
Het |
Atp8b5 |
T |
C |
4: 43,369,634 (GRCm39) |
V924A |
possibly damaging |
Het |
AU040320 |
T |
C |
4: 126,736,380 (GRCm39) |
L821P |
probably damaging |
Het |
Capn11 |
T |
C |
17: 45,943,635 (GRCm39) |
N596S |
probably damaging |
Het |
Cnot1 |
C |
A |
8: 96,471,645 (GRCm39) |
V1219F |
probably benign |
Het |
Cope |
T |
C |
8: 70,763,143 (GRCm39) |
|
probably null |
Het |
Crim1 |
A |
G |
17: 78,587,402 (GRCm39) |
E169G |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,533,065 (GRCm39) |
F2395I |
probably benign |
Het |
Ctso |
A |
C |
3: 81,858,691 (GRCm39) |
D220A |
possibly damaging |
Het |
Cttnbp2 |
G |
A |
6: 18,434,128 (GRCm39) |
P577S |
probably benign |
Het |
D930048N14Rik |
T |
A |
11: 51,544,821 (GRCm39) |
|
probably benign |
Het |
Dck |
T |
A |
5: 88,920,666 (GRCm39) |
S129T |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,041,326 (GRCm39) |
V1301A |
possibly damaging |
Het |
Dusp16 |
G |
A |
6: 134,695,398 (GRCm39) |
R478C |
probably damaging |
Het |
Ermap |
C |
T |
4: 119,044,904 (GRCm39) |
R49K |
possibly damaging |
Het |
Flnc |
A |
G |
6: 29,446,697 (GRCm39) |
K969R |
probably damaging |
Het |
Gjb2 |
A |
T |
14: 57,337,769 (GRCm39) |
F146L |
probably damaging |
Het |
Hdc |
A |
T |
2: 126,436,220 (GRCm39) |
D550E |
probably damaging |
Het |
Hs6st3 |
A |
T |
14: 120,106,731 (GRCm39) |
I380F |
probably damaging |
Het |
Htr1d |
T |
C |
4: 136,170,722 (GRCm39) |
V317A |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,040,484 (GRCm39) |
M963K |
probably damaging |
Het |
Kl |
T |
A |
5: 150,904,450 (GRCm39) |
S401T |
probably benign |
Het |
Lair1 |
A |
G |
7: 4,013,848 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
C |
T |
19: 3,652,253 (GRCm39) |
V1206I |
probably benign |
Het |
Mrgpra4 |
G |
T |
7: 47,631,251 (GRCm39) |
R117S |
possibly damaging |
Het |
Myh14 |
T |
C |
7: 44,314,530 (GRCm39) |
Y131C |
probably damaging |
Het |
Nap1l4 |
A |
T |
7: 143,077,898 (GRCm39) |
N345K |
possibly damaging |
Het |
Oas1c |
T |
C |
5: 120,943,528 (GRCm39) |
R204G |
probably benign |
Het |
Or52e4 |
A |
G |
7: 104,705,569 (GRCm39) |
T39A |
probably benign |
Het |
Or8k25 |
T |
A |
2: 86,243,959 (GRCm39) |
T146S |
probably benign |
Het |
Pakap |
T |
A |
4: 57,854,663 (GRCm39) |
D58E |
probably damaging |
Het |
Pin1 |
G |
A |
9: 20,574,531 (GRCm39) |
G150E |
probably benign |
Het |
R3hdm2 |
T |
C |
10: 127,300,888 (GRCm39) |
|
probably null |
Het |
Rai1 |
C |
A |
11: 60,084,782 (GRCm39) |
H1843Q |
probably benign |
Het |
Siae |
G |
T |
9: 37,542,680 (GRCm39) |
A194S |
probably damaging |
Het |
Slc6a12 |
G |
T |
6: 121,340,211 (GRCm39) |
V485L |
probably benign |
Het |
Stil |
T |
G |
4: 114,898,692 (GRCm39) |
S1107R |
probably damaging |
Het |
Syt16 |
T |
C |
12: 74,176,185 (GRCm39) |
V18A |
possibly damaging |
Het |
Trpm8 |
A |
G |
1: 88,275,773 (GRCm39) |
D457G |
probably damaging |
Het |
Tshr |
A |
T |
12: 91,460,103 (GRCm39) |
T66S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,537,639 (GRCm39) |
Q34763L |
probably benign |
Het |
Ubr2 |
T |
A |
17: 47,274,691 (GRCm39) |
M830L |
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,940,918 (GRCm39) |
F337S |
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 |
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 |
R2448:Matn4
|
UTSW |
2 |
164,243,770 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
|
Posted On |
2015-04-16 |