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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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