Incidental Mutation 'IGL00423:Acan'
ID 5224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acan
Ensembl Gene ENSMUSG00000030607
Gene Name aggrecan
Synonyms Agc1, b2b183Clo, Cspg1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00423
Quality Score
Status
Chromosome 7
Chromosomal Location 79053483-79115099 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79097824 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 781 (E781G)
Ref Sequence ENSEMBL: ENSMUSP00000032835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032835]
AlphaFold Q61282
Predicted Effect probably benign
Transcript: ENSMUST00000032835
AA Change: E781G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: E781G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 46 135 3.46e-7 SMART
LINK 151 248 1.76e-59 SMART
LINK 252 350 4.13e-65 SMART
LINK 485 582 1.03e-51 SMART
LINK 586 684 9.58e-61 SMART
low complexity region 767 794 N/A INTRINSIC
low complexity region 845 859 N/A INTRINSIC
low complexity region 890 904 N/A INTRINSIC
low complexity region 913 930 N/A INTRINSIC
low complexity region 966 987 N/A INTRINSIC
low complexity region 1455 1468 N/A INTRINSIC
low complexity region 1484 1495 N/A INTRINSIC
low complexity region 1707 1720 N/A INTRINSIC
low complexity region 1808 1823 N/A INTRINSIC
low complexity region 1904 1915 N/A INTRINSIC
CLECT 1922 2043 2.13e-37 SMART
CCP 2049 2105 9.32e-11 SMART
low complexity region 2118 2130 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206779
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik G A 14: 8,473,370 (GRCm38) P600S possibly damaging Het
Acp7 T C 7: 28,614,697 (GRCm38) T358A possibly damaging Het
Adamtsl2 C A 2: 27,085,088 (GRCm38) T199K probably damaging Het
Ap4e1 T A 2: 127,028,289 (GRCm38) S179T probably damaging Het
BC048671 A G 6: 90,303,218 (GRCm38) T39A probably benign Het
Cnr1 G A 4: 33,944,116 (GRCm38) S168N probably damaging Het
Cp T C 3: 19,985,662 (GRCm38) V881A possibly damaging Het
Cyp4x1 T C 4: 115,121,948 (GRCm38) T151A probably benign Het
Drd2 T C 9: 49,395,758 (GRCm38) I48T probably damaging Het
Gemin5 A T 11: 58,163,817 (GRCm38) I253N probably damaging Het
Herc3 T A 6: 58,868,715 (GRCm38) I407K probably damaging Het
Ighmbp2 G T 19: 3,268,704 (GRCm38) H457Q probably benign Het
Mboat1 A G 13: 30,195,793 (GRCm38) probably benign Het
Myh2 T C 11: 67,197,345 (GRCm38) V1929A probably benign Het
Nucb2 T A 7: 116,521,831 (GRCm38) probably benign Het
Pcsk5 T C 19: 17,642,559 (GRCm38) N383S probably benign Het
Pde1a A G 2: 79,865,670 (GRCm38) L443P probably damaging Het
Prph2 A T 17: 46,919,778 (GRCm38) N199I probably damaging Het
Rab27b A G 18: 69,996,067 (GRCm38) probably null Het
Ranbp3 G A 17: 56,709,238 (GRCm38) D336N probably damaging Het
Rangap1 T C 15: 81,721,993 (GRCm38) D49G probably benign Het
Rasa3 G A 8: 13,595,410 (GRCm38) probably benign Het
Serpina6 T A 12: 103,651,903 (GRCm38) N217I probably damaging Het
Sorbs2 A G 8: 45,799,706 (GRCm38) probably null Het
Spire1 A G 18: 67,529,015 (GRCm38) V116A probably damaging Het
Tdrd1 T C 19: 56,851,464 (GRCm38) V652A possibly damaging Het
Tmprss11g T C 5: 86,492,191 (GRCm38) E193G probably benign Het
Zfp451 A T 1: 33,777,579 (GRCm38) V213D probably benign Het
Other mutations in Acan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Acan APN 7 79,098,653 (GRCm38) missense possibly damaging 0.78
IGL01145:Acan APN 7 79,099,282 (GRCm38) missense probably damaging 1.00
IGL01308:Acan APN 7 79,099,249 (GRCm38) missense probably damaging 0.98
IGL01520:Acan APN 7 79,084,570 (GRCm38) missense probably damaging 0.96
IGL02069:Acan APN 7 79,092,752 (GRCm38) missense possibly damaging 0.83
IGL02629:Acan APN 7 79,111,979 (GRCm38) missense possibly damaging 0.90
IGL02713:Acan APN 7 79,100,244 (GRCm38) missense possibly damaging 0.90
IGL03001:Acan APN 7 79,111,294 (GRCm38) missense probably damaging 0.99
IGL03081:Acan APN 7 79,098,543 (GRCm38) missense probably benign 0.01
Disproportion UTSW 7 79,092,318 (GRCm38) missense probably damaging 0.98
Hollowleg UTSW 7 79,098,348 (GRCm38) nonsense probably null
Sublimate UTSW 7 79,111,320 (GRCm38) missense probably damaging 0.97
Vacuo UTSW 7 79,088,307 (GRCm38) critical splice donor site probably null
IGL03147:Acan UTSW 7 79,091,056 (GRCm38) missense probably damaging 1.00
R0281:Acan UTSW 7 79,100,285 (GRCm38) missense probably damaging 1.00
R0372:Acan UTSW 7 79,100,601 (GRCm38) missense probably benign 0.00
R0599:Acan UTSW 7 79,111,290 (GRCm38) splice site probably benign
R0827:Acan UTSW 7 79,099,671 (GRCm38) missense probably benign 0.00
R0835:Acan UTSW 7 79,114,232 (GRCm38) missense probably damaging 0.96
R1496:Acan UTSW 7 79,100,804 (GRCm38) missense probably benign 0.06
R1716:Acan UTSW 7 79,082,198 (GRCm38) missense unknown
R1761:Acan UTSW 7 79,094,085 (GRCm38) nonsense probably null
R1848:Acan UTSW 7 79,099,035 (GRCm38) missense probably benign
R2002:Acan UTSW 7 79,100,793 (GRCm38) missense probably damaging 1.00
R2025:Acan UTSW 7 79,101,222 (GRCm38) missense probably benign
R2167:Acan UTSW 7 79,099,957 (GRCm38) missense probably benign 0.41
R2189:Acan UTSW 7 79,098,091 (GRCm38) missense probably damaging 1.00
R2303:Acan UTSW 7 79,099,957 (GRCm38) missense probably benign 0.41
R2496:Acan UTSW 7 79,111,317 (GRCm38) missense probably damaging 1.00
R2971:Acan UTSW 7 79,099,699 (GRCm38) missense possibly damaging 0.46
R4004:Acan UTSW 7 79,100,687 (GRCm38) missense probably damaging 1.00
R4669:Acan UTSW 7 79,101,142 (GRCm38) missense probably benign 0.01
R4732:Acan UTSW 7 79,098,609 (GRCm38) missense probably damaging 0.99
R4733:Acan UTSW 7 79,098,609 (GRCm38) missense probably damaging 0.99
R4742:Acan UTSW 7 79,100,769 (GRCm38) missense probably benign 0.41
R4750:Acan UTSW 7 79,092,718 (GRCm38) missense probably damaging 1.00
R5022:Acan UTSW 7 79,092,808 (GRCm38) critical splice donor site probably null
R5122:Acan UTSW 7 79,100,661 (GRCm38) missense probably damaging 0.99
R5190:Acan UTSW 7 79,098,541 (GRCm38) missense probably benign 0.03
R5220:Acan UTSW 7 79,088,297 (GRCm38) missense probably damaging 0.96
R5414:Acan UTSW 7 79,100,988 (GRCm38) missense probably benign 0.00
R5525:Acan UTSW 7 79,099,983 (GRCm38) missense probably benign
R5655:Acan UTSW 7 79,100,043 (GRCm38) missense possibly damaging 0.89
R5662:Acan UTSW 7 79,100,107 (GRCm38) missense possibly damaging 0.78
R5748:Acan UTSW 7 79,089,699 (GRCm38) missense probably damaging 0.98
R5758:Acan UTSW 7 79,101,214 (GRCm38) missense possibly damaging 0.67
R5996:Acan UTSW 7 79,111,320 (GRCm38) missense probably damaging 0.97
R6057:Acan UTSW 7 79,099,782 (GRCm38) missense probably null
R6503:Acan UTSW 7 79,097,832 (GRCm38) missense probably benign 0.04
R6529:Acan UTSW 7 79,089,731 (GRCm38) missense probably benign 0.16
R6887:Acan UTSW 7 79,092,483 (GRCm38) missense probably damaging 1.00
R7041:Acan UTSW 7 79,098,348 (GRCm38) nonsense probably null
R7193:Acan UTSW 7 79,086,342 (GRCm38) missense probably damaging 1.00
R7220:Acan UTSW 7 79,108,148 (GRCm38) missense
R7263:Acan UTSW 7 79,092,318 (GRCm38) missense probably damaging 0.98
R7376:Acan UTSW 7 79,088,307 (GRCm38) critical splice donor site probably null
R7502:Acan UTSW 7 79,094,203 (GRCm38) missense probably damaging 1.00
R7571:Acan UTSW 7 79,086,267 (GRCm38) missense probably damaging 1.00
R7709:Acan UTSW 7 79,089,608 (GRCm38) missense probably damaging 1.00
R7835:Acan UTSW 7 79,099,875 (GRCm38) missense probably benign 0.08
R8051:Acan UTSW 7 79,100,779 (GRCm38) missense probably damaging 0.96
R8131:Acan UTSW 7 79,091,338 (GRCm38) missense possibly damaging 0.92
R8138:Acan UTSW 7 79,098,427 (GRCm38) missense probably benign 0.12
R8324:Acan UTSW 7 79,091,056 (GRCm38) missense probably damaging 1.00
R8482:Acan UTSW 7 79,096,744 (GRCm38) missense probably benign 0.02
R8511:Acan UTSW 7 79,097,935 (GRCm38) missense possibly damaging 0.94
R8716:Acan UTSW 7 79,112,690 (GRCm38) missense probably damaging 1.00
R8753:Acan UTSW 7 79,098,768 (GRCm38) missense possibly damaging 0.83
R8810:Acan UTSW 7 79,099,704 (GRCm38) missense probably damaging 1.00
R8898:Acan UTSW 7 79,100,353 (GRCm38) missense possibly damaging 0.59
R8956:Acan UTSW 7 79,100,965 (GRCm38) missense probably benign 0.00
R9199:Acan UTSW 7 79,086,309 (GRCm38) missense probably damaging 1.00
R9509:Acan UTSW 7 79,091,020 (GRCm38) missense probably damaging 0.96
R9549:Acan UTSW 7 79,092,328 (GRCm38) missense probably damaging 1.00
R9572:Acan UTSW 7 79,098,729 (GRCm38) missense probably damaging 0.99
R9645:Acan UTSW 7 79,099,905 (GRCm38) missense probably benign 0.00
R9742:Acan UTSW 7 79,099,367 (GRCm38) missense probably benign 0.00
RF008:Acan UTSW 7 79,092,400 (GRCm38) missense possibly damaging 0.83
Z1088:Acan UTSW 7 79,111,354 (GRCm38) missense probably benign
Z1088:Acan UTSW 7 79,100,110 (GRCm38) missense probably benign 0.41
Z1088:Acan UTSW 7 79,088,200 (GRCm38) nonsense probably null
Z1176:Acan UTSW 7 79,111,354 (GRCm38) missense probably benign
Z1177:Acan UTSW 7 79,111,354 (GRCm38) missense probably benign
Z1177:Acan UTSW 7 79,100,137 (GRCm38) missense probably damaging 0.99
Z1177:Acan UTSW 7 79,094,170 (GRCm38) missense probably damaging 0.96
Posted On 2012-04-20