Incidental Mutation 'IGL00796:Aspn'
| ID |
9098 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aspn
|
| Ensembl Gene |
ENSMUSG00000021388 |
| Gene Name |
asporin |
| Synonyms |
PLAP-1, SLRR1C, 4631401G09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00796
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49697919-49721041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49710893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 179
(I179M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021818]
[ENSMUST00000021820]
[ENSMUST00000177948]
|
| AlphaFold |
Q99MQ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
|
| SMART Domains |
Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021820
AA Change: I179M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021820
Gene: ENSMUSG00000021388
AA Change: I179M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
LRRNT
|
67 |
99 |
8.23e-6 |
SMART |
|
LRR
|
98 |
117 |
3.36e2 |
SMART |
|
LRR
|
118 |
141 |
2.49e-1 |
SMART |
|
LRR
|
142 |
165 |
5.41e0 |
SMART |
|
LRR
|
187 |
212 |
9.5e1 |
SMART |
|
Blast:LRR
|
232 |
256 |
9e-6 |
BLAST |
|
LRR
|
257 |
280 |
4.83e0 |
SMART |
|
LRR
|
281 |
303 |
6.23e1 |
SMART |
|
LRR
|
304 |
327 |
2.03e2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177948
AA Change: I179M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136728
Gene: ENSMUSG00000021388
AA Change: I179M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
LRRNT
|
67 |
99 |
8.23e-6 |
SMART |
|
LRR
|
98 |
117 |
3.36e2 |
SMART |
|
LRR
|
118 |
141 |
2.49e-1 |
SMART |
|
LRR
|
142 |
165 |
5.41e0 |
SMART |
|
LRR
|
187 |
212 |
9.5e1 |
SMART |
|
Blast:LRR
|
232 |
256 |
9e-6 |
BLAST |
|
LRR
|
257 |
280 |
4.83e0 |
SMART |
|
LRR
|
281 |
303 |
6.23e1 |
SMART |
|
LRR
|
304 |
327 |
2.03e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221751
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the small leucine-rich proteoglycan family. The encoded protein is an extracellular matrix protein that modulates the transforming growth factor-beta signaling pathway, regulating cartilage matrix gene expression and cartilage formation. The protein plays a role in the pathology of osteoarthritis. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh5 |
A |
G |
3: 138,156,742 (GRCm39) |
T143A |
probably benign |
Het |
| Alk |
T |
A |
17: 72,212,137 (GRCm39) |
N802I |
possibly damaging |
Het |
| Bptf |
A |
G |
11: 106,945,376 (GRCm39) |
L2506P |
probably damaging |
Het |
| Cacna1f |
T |
A |
X: 7,497,270 (GRCm39) |
D1594E |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,847,271 (GRCm39) |
N1671K |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,250,497 (GRCm39) |
V1706A |
probably damaging |
Het |
| Elmo2 |
A |
T |
2: 165,133,934 (GRCm39) |
|
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,291,959 (GRCm39) |
S1108P |
probably benign |
Het |
| Fam53a |
A |
T |
5: 33,758,171 (GRCm39) |
D317E |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,618,097 (GRCm39) |
N313D |
probably benign |
Het |
| Itch |
A |
T |
2: 155,051,002 (GRCm39) |
H563L |
probably damaging |
Het |
| Kdm1a |
G |
A |
4: 136,281,558 (GRCm39) |
A651V |
probably damaging |
Het |
| Myb |
T |
G |
10: 21,017,698 (GRCm39) |
Q631P |
probably benign |
Het |
| Myh9 |
A |
T |
15: 77,681,195 (GRCm39) |
|
probably benign |
Het |
| Nars2 |
C |
A |
7: 96,680,786 (GRCm39) |
L319I |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,680,787 (GRCm39) |
L319Q |
probably benign |
Het |
| Pdcl2 |
G |
A |
5: 76,467,022 (GRCm39) |
T57I |
probably damaging |
Het |
| Pde6g |
T |
A |
11: 120,341,390 (GRCm39) |
I17L |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,157,014 (GRCm39) |
M964K |
probably benign |
Het |
| Ssxb2 |
A |
G |
X: 8,324,459 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,509,349 (GRCm39) |
T8A |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,346,364 (GRCm39) |
M1581T |
probably benign |
Het |
|
| Other mutations in Aspn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Aspn
|
APN |
13 |
49,719,968 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01088:Aspn
|
APN |
13 |
49,720,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02633:Aspn
|
APN |
13 |
49,705,363 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03180:Aspn
|
APN |
13 |
49,716,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4544001:Aspn
|
UTSW |
13 |
49,707,458 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Aspn
|
UTSW |
13 |
49,705,258 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1445:Aspn
|
UTSW |
13 |
49,710,849 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1749:Aspn
|
UTSW |
13 |
49,705,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2907:Aspn
|
UTSW |
13 |
49,705,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3744:Aspn
|
UTSW |
13 |
49,720,036 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3745:Aspn
|
UTSW |
13 |
49,720,036 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4625:Aspn
|
UTSW |
13 |
49,710,901 (GRCm39) |
missense |
probably benign |
|
|
R5061:Aspn
|
UTSW |
13 |
49,720,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5712:Aspn
|
UTSW |
13 |
49,716,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Aspn
|
UTSW |
13 |
49,720,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Aspn
|
UTSW |
13 |
49,719,967 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7273:Aspn
|
UTSW |
13 |
49,712,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7768:Aspn
|
UTSW |
13 |
49,710,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7988:Aspn
|
UTSW |
13 |
49,705,353 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9517:Aspn
|
UTSW |
13 |
49,705,275 (GRCm39) |
missense |
|
|
|
R9686:Aspn
|
UTSW |
13 |
49,710,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9743:Aspn
|
UTSW |
13 |
49,705,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation