Incidental Mutation 'R3744:Aspn'
ID |
271135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aspn
|
Ensembl Gene |
ENSMUSG00000021388 |
Gene Name |
asporin |
Synonyms |
PLAP-1, SLRR1C, 4631401G09Rik |
MMRRC Submission |
040730-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3744 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49697919-49721041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 49720036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 351
(E351K)
|
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: E351K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021820 Gene: ENSMUSG00000021388 AA Change: E351K
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: E351K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000136728 Gene: ENSMUSG00000021388 AA Change: E351K
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
|
Meta Mutation Damage Score |
0.1886 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (33/33) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
C |
17: 31,330,190 (GRCm39) |
|
probably benign |
Het |
Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
BC004004 |
A |
G |
17: 29,520,423 (GRCm39) |
*349W |
probably null |
Het |
Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
Fn3krp |
T |
C |
11: 121,317,531 (GRCm39) |
|
probably null |
Het |
Gnai3 |
T |
C |
3: 108,016,714 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
Pop5 |
T |
C |
5: 115,378,567 (GRCm39) |
Y117H |
possibly damaging |
Het |
Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
Tpbg |
A |
G |
9: 85,727,215 (GRCm39) |
R395G |
probably damaging |
Het |
Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
Vmn1r30 |
A |
T |
6: 58,412,804 (GRCm39) |
Y9* |
probably null |
Het |
Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
Zfp36 |
A |
G |
7: 28,077,201 (GRCm39) |
S236P |
probably benign |
Het |
Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCCATGTTCCAGATAAAAC -3'
(R):5'- ACGCAAGAATCATTCATGTGCAG -3'
Sequencing Primer
(F):5'- CACATTTCTTTTTATATTTACCGGGC -3'
(R):5'- AATCATTCATGTGCAGAAGGAC -3'
|
Posted On |
2015-03-18 |