Incidental Mutation 'IGL02633:Aspn'
ID |
301381 |
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 # |
IGL02633
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
49697919-49721041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49705363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 75
(Y75F)
|
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 |
possibly damaging
Transcript: ENSMUST00000021820
AA Change: Y75F
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021820 Gene: ENSMUSG00000021388 AA Change: Y75F
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 |
possibly damaging
Transcript: ENSMUST00000177948
AA Change: Y75F
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136728 Gene: ENSMUSG00000021388 AA Change: Y75F
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
T |
C |
4: 56,806,131 (GRCm39) |
V181A |
possibly damaging |
Het |
Aff4 |
T |
C |
11: 53,300,198 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
T |
C |
14: 55,338,104 (GRCm39) |
|
probably null |
Het |
Atm |
G |
A |
9: 53,359,453 (GRCm39) |
T2783I |
probably damaging |
Het |
Cacnb1 |
A |
T |
11: 97,913,199 (GRCm39) |
I18N |
probably damaging |
Het |
Casr |
T |
C |
16: 36,336,017 (GRCm39) |
I97M |
probably damaging |
Het |
Cnga2 |
T |
A |
X: 71,048,655 (GRCm39) |
|
probably benign |
Het |
Coasy |
T |
A |
11: 100,976,147 (GRCm39) |
L425Q |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,162,396 (GRCm39) |
T25A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,006,772 (GRCm39) |
Y2181C |
probably benign |
Het |
Efna3 |
A |
C |
3: 89,222,749 (GRCm39) |
S230A |
probably damaging |
Het |
Eng |
A |
G |
2: 32,563,286 (GRCm39) |
I281V |
probably damaging |
Het |
Erlec1 |
T |
A |
11: 30,898,430 (GRCm39) |
R14* |
probably null |
Het |
Gbp9 |
C |
T |
5: 105,231,431 (GRCm39) |
|
probably benign |
Het |
Gzmg |
T |
C |
14: 56,394,160 (GRCm39) |
M245V |
probably damaging |
Het |
Kdm5a |
A |
G |
6: 120,341,680 (GRCm39) |
I36V |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,389,095 (GRCm39) |
V79A |
probably damaging |
Het |
Limd1 |
A |
T |
9: 123,308,987 (GRCm39) |
|
probably benign |
Het |
Lmo4 |
T |
C |
3: 143,899,683 (GRCm39) |
S155G |
probably benign |
Het |
Mrpl44 |
G |
A |
1: 79,753,862 (GRCm39) |
V5I |
probably benign |
Het |
Mrpl49 |
T |
C |
19: 6,104,931 (GRCm39) |
T146A |
possibly damaging |
Het |
Mrpl58 |
T |
C |
11: 115,301,457 (GRCm39) |
|
probably benign |
Het |
Nab1 |
C |
T |
1: 52,529,292 (GRCm39) |
V202M |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,527,997 (GRCm39) |
M2229L |
probably benign |
Het |
Notch2 |
C |
T |
3: 98,024,013 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,897,931 (GRCm39) |
I106V |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,172,117 (GRCm39) |
S595T |
probably benign |
Het |
Rbfox1 |
T |
A |
16: 7,110,078 (GRCm39) |
S165R |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,174,507 (GRCm39) |
T1257I |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,305,556 (GRCm39) |
S327P |
probably damaging |
Het |
Tdpoz1 |
T |
C |
3: 93,578,056 (GRCm39) |
M243V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,549,289 (GRCm39) |
T23469K |
probably damaging |
Het |
Ube2u |
T |
C |
4: 100,339,971 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,208,462 (GRCm39) |
Y836H |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,488,728 (GRCm39) |
Y101H |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,697,772 (GRCm39) |
Q781L |
possibly damaging |
Het |
Vwce |
G |
A |
19: 10,625,858 (GRCm39) |
V457M |
probably damaging |
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 |
IGL00796:Aspn
|
APN |
13 |
49,710,893 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01088:Aspn
|
APN |
13 |
49,720,029 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |