Incidental Mutation 'IGL02713:Acan'
ID 304650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acan
Ensembl Gene ENSMUSG00000030607
Gene Name aggrecan
Synonyms Agc1, Cspg1, b2b183Clo
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02713
Quality Score
Status
Chromosome 7
Chromosomal Location 78703231-78764847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78749992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1588 (T1588A)
Ref Sequence ENSEMBL: ENSMUSP00000032835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032835]
AlphaFold Q61282
Predicted Effect possibly damaging
Transcript: ENSMUST00000032835
AA Change: T1588A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: T1588A

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 unknown
Transcript: ENSMUST00000206779
AA Change: T165A
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apeh A T 9: 107,962,871 (GRCm39) L700Q probably damaging Het
Arid1b T C 17: 5,393,286 (GRCm39) I2272T probably damaging Het
Best3 T G 10: 116,860,434 (GRCm39) F565V probably benign Het
Birc6 A G 17: 74,886,319 (GRCm39) N521S probably benign Het
Cd209f T A 8: 4,153,732 (GRCm39) R191S probably benign Het
Clec4e A T 6: 123,263,263 (GRCm39) Y63* probably null Het
Cracdl C A 1: 37,663,218 (GRCm39) K893N possibly damaging Het
Cyp26c1 C T 19: 37,681,667 (GRCm39) T490M probably damaging Het
Cyp2b9 T A 7: 25,872,945 (GRCm39) H29Q probably benign Het
Cyp2d10 A C 15: 82,290,283 (GRCm39) probably benign Het
Dgat1 C A 15: 76,387,734 (GRCm39) R291L probably damaging Het
Dyrk1a C A 16: 94,486,204 (GRCm39) probably benign Het
Esp4 T C 17: 40,913,297 (GRCm39) F55L probably benign Het
Fam227a G A 15: 79,520,997 (GRCm39) probably benign Het
Ggt1 T C 10: 75,410,178 (GRCm39) Y37H probably damaging Het
Grsf1 A T 5: 88,820,589 (GRCm39) I64K probably damaging Het
Itga6 C T 2: 71,647,057 (GRCm39) T89I possibly damaging Het
Jph2 T C 2: 163,217,837 (GRCm39) T280A probably damaging Het
Lipm A G 19: 34,078,570 (GRCm39) M1V probably null Het
Nbeal1 C T 1: 60,274,396 (GRCm39) A513V possibly damaging Het
Or10a3 G A 7: 108,480,060 (GRCm39) T251I probably damaging Het
Or10a48 A T 7: 108,424,801 (GRCm39) M135K probably damaging Het
Or10q1b A T 19: 13,682,553 (GRCm39) I121F possibly damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Or8b101 C T 9: 38,020,623 (GRCm39) P214S probably damaging Het
Orc6 A G 8: 86,034,215 (GRCm39) E146G probably benign Het
Patl2 A G 2: 121,956,328 (GRCm39) S179P probably benign Het
Pdzd8 C A 19: 59,333,890 (GRCm39) G44C probably damaging Het
Phox2b A G 5: 67,253,938 (GRCm39) probably benign Het
Ppp4r3b T G 11: 29,138,445 (GRCm39) H264Q probably damaging Het
Ptprk T C 10: 28,468,807 (GRCm39) I1409T possibly damaging Het
Pum1 T A 4: 130,493,323 (GRCm39) I842N probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sgca T A 11: 94,862,131 (GRCm39) N174Y probably damaging Het
Slc7a14 A T 3: 31,311,912 (GRCm39) L36Q probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stard13 G A 5: 150,965,651 (GRCm39) Q935* probably null Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Sv2b A T 7: 74,773,911 (GRCm39) L520Q possibly damaging Het
Tmem26 T C 10: 68,587,125 (GRCm39) F191S probably damaging Het
Other mutations in Acan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Acan APN 7 78,747,572 (GRCm39) missense probably benign 0.00
IGL01118:Acan APN 7 78,748,401 (GRCm39) missense possibly damaging 0.78
IGL01145:Acan APN 7 78,749,030 (GRCm39) missense probably damaging 1.00
IGL01308:Acan APN 7 78,748,997 (GRCm39) missense probably damaging 0.98
IGL01520:Acan APN 7 78,734,318 (GRCm39) missense probably damaging 0.96
IGL02069:Acan APN 7 78,742,500 (GRCm39) missense possibly damaging 0.83
IGL02629:Acan APN 7 78,761,727 (GRCm39) missense possibly damaging 0.90
IGL03001:Acan APN 7 78,761,042 (GRCm39) missense probably damaging 0.99
IGL03081:Acan APN 7 78,748,291 (GRCm39) missense probably benign 0.01
Disproportion UTSW 7 78,742,066 (GRCm39) missense probably damaging 0.98
Hollowleg UTSW 7 78,748,096 (GRCm39) nonsense probably null
Sublimate UTSW 7 78,761,068 (GRCm39) missense probably damaging 0.97
Vacuo UTSW 7 78,738,055 (GRCm39) critical splice donor site probably null
IGL03147:Acan UTSW 7 78,740,804 (GRCm39) missense probably damaging 1.00
R0281:Acan UTSW 7 78,750,033 (GRCm39) missense probably damaging 1.00
R0372:Acan UTSW 7 78,750,349 (GRCm39) missense probably benign 0.00
R0599:Acan UTSW 7 78,761,038 (GRCm39) splice site probably benign
R0827:Acan UTSW 7 78,749,419 (GRCm39) missense probably benign 0.00
R0835:Acan UTSW 7 78,763,980 (GRCm39) missense probably damaging 0.96
R1496:Acan UTSW 7 78,750,552 (GRCm39) missense probably benign 0.06
R1716:Acan UTSW 7 78,731,946 (GRCm39) missense unknown
R1761:Acan UTSW 7 78,743,833 (GRCm39) nonsense probably null
R1848:Acan UTSW 7 78,748,783 (GRCm39) missense probably benign
R2002:Acan UTSW 7 78,750,541 (GRCm39) missense probably damaging 1.00
R2025:Acan UTSW 7 78,750,970 (GRCm39) missense probably benign
R2167:Acan UTSW 7 78,749,705 (GRCm39) missense probably benign 0.41
R2189:Acan UTSW 7 78,747,839 (GRCm39) missense probably damaging 1.00
R2303:Acan UTSW 7 78,749,705 (GRCm39) missense probably benign 0.41
R2496:Acan UTSW 7 78,761,065 (GRCm39) missense probably damaging 1.00
R2971:Acan UTSW 7 78,749,447 (GRCm39) missense possibly damaging 0.46
R4004:Acan UTSW 7 78,750,435 (GRCm39) missense probably damaging 1.00
R4669:Acan UTSW 7 78,750,890 (GRCm39) missense probably benign 0.01
R4732:Acan UTSW 7 78,748,357 (GRCm39) missense probably damaging 0.99
R4733:Acan UTSW 7 78,748,357 (GRCm39) missense probably damaging 0.99
R4742:Acan UTSW 7 78,750,517 (GRCm39) missense probably benign 0.41
R4750:Acan UTSW 7 78,742,466 (GRCm39) missense probably damaging 1.00
R5022:Acan UTSW 7 78,742,556 (GRCm39) critical splice donor site probably null
R5122:Acan UTSW 7 78,750,409 (GRCm39) missense probably damaging 0.99
R5190:Acan UTSW 7 78,748,289 (GRCm39) missense probably benign 0.03
R5220:Acan UTSW 7 78,738,045 (GRCm39) missense probably damaging 0.96
R5414:Acan UTSW 7 78,750,736 (GRCm39) missense probably benign 0.00
R5525:Acan UTSW 7 78,749,731 (GRCm39) missense probably benign
R5655:Acan UTSW 7 78,749,791 (GRCm39) missense possibly damaging 0.89
R5662:Acan UTSW 7 78,749,855 (GRCm39) missense possibly damaging 0.78
R5748:Acan UTSW 7 78,739,447 (GRCm39) missense probably damaging 0.98
R5758:Acan UTSW 7 78,750,962 (GRCm39) missense possibly damaging 0.67
R5996:Acan UTSW 7 78,761,068 (GRCm39) missense probably damaging 0.97
R6057:Acan UTSW 7 78,749,530 (GRCm39) missense probably null
R6503:Acan UTSW 7 78,747,580 (GRCm39) missense probably benign 0.04
R6529:Acan UTSW 7 78,739,479 (GRCm39) missense probably benign 0.16
R6887:Acan UTSW 7 78,742,231 (GRCm39) missense probably damaging 1.00
R7041:Acan UTSW 7 78,748,096 (GRCm39) nonsense probably null
R7193:Acan UTSW 7 78,736,090 (GRCm39) missense probably damaging 1.00
R7220:Acan UTSW 7 78,757,896 (GRCm39) missense
R7263:Acan UTSW 7 78,742,066 (GRCm39) missense probably damaging 0.98
R7376:Acan UTSW 7 78,738,055 (GRCm39) critical splice donor site probably null
R7502:Acan UTSW 7 78,743,951 (GRCm39) missense probably damaging 1.00
R7571:Acan UTSW 7 78,736,015 (GRCm39) missense probably damaging 1.00
R7709:Acan UTSW 7 78,739,356 (GRCm39) missense probably damaging 1.00
R7835:Acan UTSW 7 78,749,623 (GRCm39) missense probably benign 0.08
R8051:Acan UTSW 7 78,750,527 (GRCm39) missense probably damaging 0.96
R8131:Acan UTSW 7 78,741,086 (GRCm39) missense possibly damaging 0.92
R8138:Acan UTSW 7 78,748,175 (GRCm39) missense probably benign 0.12
R8324:Acan UTSW 7 78,740,804 (GRCm39) missense probably damaging 1.00
R8482:Acan UTSW 7 78,746,492 (GRCm39) missense probably benign 0.02
R8511:Acan UTSW 7 78,747,683 (GRCm39) missense possibly damaging 0.94
R8716:Acan UTSW 7 78,762,438 (GRCm39) missense probably damaging 1.00
R8753:Acan UTSW 7 78,748,516 (GRCm39) missense possibly damaging 0.83
R8810:Acan UTSW 7 78,749,452 (GRCm39) missense probably damaging 1.00
R8898:Acan UTSW 7 78,750,101 (GRCm39) missense possibly damaging 0.59
R8956:Acan UTSW 7 78,750,713 (GRCm39) missense probably benign 0.00
R9199:Acan UTSW 7 78,736,057 (GRCm39) missense probably damaging 1.00
R9509:Acan UTSW 7 78,740,768 (GRCm39) missense probably damaging 0.96
R9549:Acan UTSW 7 78,742,076 (GRCm39) missense probably damaging 1.00
R9572:Acan UTSW 7 78,748,477 (GRCm39) missense probably damaging 0.99
R9645:Acan UTSW 7 78,749,653 (GRCm39) missense probably benign 0.00
R9742:Acan UTSW 7 78,749,115 (GRCm39) missense probably benign 0.00
RF008:Acan UTSW 7 78,742,148 (GRCm39) missense possibly damaging 0.83
Z1088:Acan UTSW 7 78,761,102 (GRCm39) missense probably benign
Z1088:Acan UTSW 7 78,749,858 (GRCm39) missense probably benign 0.41
Z1088:Acan UTSW 7 78,737,948 (GRCm39) nonsense probably null
Z1176:Acan UTSW 7 78,761,102 (GRCm39) missense probably benign
Z1177:Acan UTSW 7 78,761,102 (GRCm39) missense probably benign
Z1177:Acan UTSW 7 78,749,885 (GRCm39) missense probably damaging 0.99
Z1177:Acan UTSW 7 78,743,918 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16