Incidental Mutation 'PIT4544001:Aspn'
| ID |
556425 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4544001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49697919-49721041 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 49707458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 106
(K106*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021820
(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 null
Transcript: ENSMUST00000021820
AA Change: K106*
|
| SMART Domains |
Protein: ENSMUSP00000021820
Gene: ENSMUSG00000021388
AA Change: K106*
| 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 null
Transcript: ENSMUST00000177948
AA Change: K106*
|
| SMART Domains |
Protein: ENSMUSP00000136728
Gene: ENSMUSG00000021388
AA Change: K106*
| 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 |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
| 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 |
|---|
| Abcc1 |
A |
G |
16: 14,222,943 (GRCm39) |
D248G |
probably damaging |
Het |
| Abcc12 |
A |
T |
8: 87,231,875 (GRCm39) |
M1358K |
possibly damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,596,157 (GRCm39) |
E60K |
probably damaging |
Het |
| Aff3 |
C |
T |
1: 38,249,443 (GRCm39) |
A555T |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,366,420 (GRCm39) |
L281Q |
probably benign |
Het |
| Ccdc54 |
A |
T |
16: 50,410,343 (GRCm39) |
C308S |
possibly damaging |
Het |
| Cpa1 |
T |
C |
6: 30,641,857 (GRCm39) |
V227A |
probably benign |
Het |
| Dld |
G |
A |
12: 31,385,556 (GRCm39) |
Q262* |
probably null |
Het |
| Eif4e3 |
A |
T |
6: 99,609,314 (GRCm39) |
W161R |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,471 (GRCm39) |
T178S |
possibly damaging |
Het |
| Erbb2 |
A |
T |
11: 98,311,865 (GRCm39) |
T134S |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,336,556 (GRCm39) |
E358D |
possibly damaging |
Het |
| Gon7 |
A |
T |
12: 102,720,409 (GRCm39) |
D74E |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,318,262 (GRCm39) |
E3869G |
probably damaging |
Het |
| Ifit1bl1 |
C |
T |
19: 34,571,415 (GRCm39) |
M347I |
possibly damaging |
Het |
| Ipo5 |
T |
A |
14: 121,165,949 (GRCm39) |
D331E |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,793,178 (GRCm39) |
C355Y |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,532,098 (GRCm38) |
S196P |
probably damaging |
Het |
| Nudt21 |
A |
T |
8: 94,746,225 (GRCm39) |
F158I |
unknown |
Het |
| Padi3 |
T |
C |
4: 140,518,794 (GRCm39) |
T443A |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,950,411 (GRCm39) |
V323A |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,738,266 (GRCm39) |
I520V |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,334,411 (GRCm39) |
S73P |
probably benign |
Het |
| Rfk |
T |
C |
19: 17,372,708 (GRCm39) |
S77P |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,941,987 (GRCm39) |
N545S |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,380,232 (GRCm39) |
N1349S |
probably damaging |
Het |
| Slc22a27 |
T |
A |
19: 7,887,103 (GRCm39) |
Q262L |
probably damaging |
Het |
| Slc34a3 |
T |
C |
2: 25,120,607 (GRCm39) |
D440G |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,186,402 (GRCm39) |
L161P |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,693,048 (GRCm39) |
|
probably null |
Het |
| Tekt1 |
C |
T |
11: 72,245,660 (GRCm39) |
R165H |
probably damaging |
Het |
| Tmpo |
T |
C |
10: 90,997,976 (GRCm39) |
N604D |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,848,998 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,790,550 (GRCm39) |
H513Q |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,129,871 (GRCm39) |
N664D |
possibly damaging |
Het |
| Usp37 |
G |
A |
1: 74,509,738 (GRCm39) |
T477I |
possibly damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,818,556 (GRCm39) |
L660* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCAGGTTCAAAACAGATAG -3'
(R):5'- TTGCAGTAGGACACCCATAGG -3'
Sequencing Primer
(F):5'- CAGGTTCAAAACAGATAGATACCTTG -3'
(R):5'- CCCATAGGAAACTAAGATGTCT -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation