Incidental Mutation 'IGL03180:Aspn'
ID412203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aspn
Ensembl Gene ENSMUSG00000021388
Gene Nameasporin
SynonymsPLAP-1, 4631401G09Rik, SLRR1C
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03180
Quality Score
Status
Chromosome13
Chromosomal Location49544443-49567565 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 49563515 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 256 (R256W)
Ref Sequence ENSEMBL: ENSMUSP00000136728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021820] [ENSMUST00000177948]
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 probably damaging
Transcript: ENSMUST00000021820
AA Change: R256W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021820
Gene: ENSMUSG00000021388
AA Change: R256W

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 probably damaging
Transcript: ENSMUST00000177948
AA Change: R256W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136728
Gene: ENSMUSG00000021388
AA Change: R256W

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 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,175,635 Y321H probably benign Het
Adam28 T A 14: 68,637,434 I265L probably damaging Het
Adcy8 T C 15: 64,783,950 D560G possibly damaging Het
Aff3 A G 1: 38,535,662 M79T probably damaging Het
Ahctf1 A G 1: 179,775,330 probably null Het
Birc6 T C 17: 74,659,231 V4051A probably benign Het
Cfap46 G A 7: 139,603,252 L2584F unknown Het
Chdh T A 14: 30,034,602 probably null Het
Clasp1 A G 1: 118,505,525 T245A probably benign Het
Clec4a1 G A 6: 122,924,818 V70I probably benign Het
Cpt2 A T 4: 107,906,960 S536T probably damaging Het
Dnah9 A T 11: 65,886,639 H3694Q probably damaging Het
Dntt T A 19: 41,029,551 F38Y probably benign Het
Eif4ebp2 T C 10: 61,433,810 E117G probably damaging Het
Eif5b T C 1: 38,036,269 I609T probably damaging Het
Esam G A 9: 37,534,570 G135S probably damaging Het
Fut7 C A 2: 25,425,453 A241D possibly damaging Het
Grin2d T A 7: 45,853,329 K706M probably damaging Het
Grip2 A G 6: 91,785,761 probably benign Het
Gtf2ird2 A G 5: 134,191,248 T22A probably damaging Het
Hadh T C 3: 131,271,884 I42V probably benign Het
Iqsec3 T A 6: 121,413,508 probably benign Het
Izumo3 G A 4: 92,146,287 probably benign Het
Ldlrad1 G T 4: 107,217,835 C193F probably damaging Het
Lgals4 G A 7: 28,837,628 G118R probably damaging Het
Map4k1 A C 7: 28,988,085 E136A probably damaging Het
Mapk8ip1 G T 2: 92,386,912 P346Q possibly damaging Het
Mkl2 A G 16: 13,398,332 K303E probably damaging Het
Nlrp14 T A 7: 107,182,626 H343Q probably benign Het
Ogg1 T G 6: 113,333,494 probably null Het
Olfr1023 A T 2: 85,887,396 M199L probably benign Het
Olfr361 C T 2: 37,085,710 V13M possibly damaging Het
Pafah1b1 A T 11: 74,683,518 C281S possibly damaging Het
Papss1 C T 3: 131,607,382 R386W probably damaging Het
Pex5 A G 6: 124,413,563 probably benign Het
Pibf1 C A 14: 99,133,344 Q261K probably benign Het
Plcb3 T C 19: 6,956,153 S935G probably benign Het
Polg A G 7: 79,451,853 probably benign Het
Ptpdc1 G A 13: 48,586,077 T626I probably damaging Het
Rab34 A T 11: 78,190,318 Y87F probably damaging Het
Rsrc1 T G 3: 67,082,543 probably benign Het
Ryr2 T C 13: 11,568,563 N4735S possibly damaging Het
Scn7a T C 2: 66,676,234 D1437G possibly damaging Het
Sdk1 A G 5: 142,085,742 E1229G probably damaging Het
Sez6l A T 5: 112,436,285 V806D probably damaging Het
Sgsm2 A C 11: 74,868,575 probably null Het
Sla A G 15: 66,789,720 I121T probably benign Het
Son T C 16: 91,657,008 L881S probably damaging Het
Srms A G 2: 181,212,780 probably benign Het
Stoml1 T C 9: 58,260,917 S304P probably damaging Het
Stt3a T C 9: 36,759,256 D73G probably damaging Het
Tmem206 G T 1: 191,338,892 V82F probably damaging Het
Tpp1 T C 7: 105,746,649 T558A probably benign Het
Trp53i13 T C 11: 77,512,702 probably benign Het
Vmn2r77 A G 7: 86,801,635 Y243C possibly damaging Het
Vwde T C 6: 13,205,765 D261G probably damaging Het
Wdr60 T C 12: 116,218,865 S706G probably benign Het
Zfpm2 A G 15: 41,101,394 K293R probably damaging Het
Other mutations in Aspn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Aspn APN 13 49566492 missense probably benign 0.06
IGL00796:Aspn APN 13 49557417 missense probably damaging 0.98
IGL01088:Aspn APN 13 49566553 missense probably benign 0.00
IGL02633:Aspn APN 13 49551887 missense possibly damaging 0.93
PIT4544001:Aspn UTSW 13 49553982 nonsense probably null
R0699:Aspn UTSW 13 49551782 missense possibly damaging 0.63
R1445:Aspn UTSW 13 49557373 missense possibly damaging 0.75
R1749:Aspn UTSW 13 49551785 missense probably benign 0.01
R2907:Aspn UTSW 13 49551898 missense probably damaging 1.00
R3744:Aspn UTSW 13 49566560 missense probably damaging 0.96
R3745:Aspn UTSW 13 49566560 missense probably damaging 0.96
R4625:Aspn UTSW 13 49557425 missense probably benign
R5061:Aspn UTSW 13 49566604 missense probably damaging 0.99
R5712:Aspn UTSW 13 49563519 missense probably damaging 1.00
R7079:Aspn UTSW 13 49566555 missense probably damaging 1.00
R7210:Aspn UTSW 13 49566491 missense probably benign 0.14
R7273:Aspn UTSW 13 49558876 missense probably benign 0.00
Posted On2016-08-02