Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Acan'

304650

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 #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79100244 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	Het

Other mutations in Acan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Acan	APN	7	79097824	missense	probably benign	0.00
IGL01118:Acan	APN	7	79098653	missense	possibly damaging	0.78
IGL01145:Acan	APN	7	79099282	missense	probably damaging	1.00
IGL01308:Acan	APN	7	79099249	missense	probably damaging	0.98
IGL01520:Acan	APN	7	79084570	missense	probably damaging	0.96
IGL02069:Acan	APN	7	79092752	missense	possibly damaging	0.83
IGL02629:Acan	APN	7	79111979	missense	possibly damaging	0.90
IGL03001:Acan	APN	7	79111294	missense	probably damaging	0.99
IGL03081:Acan	APN	7	79098543	missense	probably benign	0.01
Disproportion	UTSW	7	79092318	missense	probably damaging	0.98
Hollowleg	UTSW	7	79098348	nonsense	probably null
Sublimate	UTSW	7	79111320	missense	probably damaging	0.97
Vacuo	UTSW	7	79088307	critical splice donor site	probably null
IGL03147:Acan	UTSW	7	79091056	missense	probably damaging	1.00
R0281:Acan	UTSW	7	79100285	missense	probably damaging	1.00
R0372:Acan	UTSW	7	79100601	missense	probably benign	0.00
R0599:Acan	UTSW	7	79111290	splice site	probably benign
R0827:Acan	UTSW	7	79099671	missense	probably benign	0.00
R0835:Acan	UTSW	7	79114232	missense	probably damaging	0.96
R1496:Acan	UTSW	7	79100804	missense	probably benign	0.06
R1716:Acan	UTSW	7	79082198	missense	unknown
R1761:Acan	UTSW	7	79094085	nonsense	probably null
R1848:Acan	UTSW	7	79099035	missense	probably benign
R2002:Acan	UTSW	7	79100793	missense	probably damaging	1.00
R2025:Acan	UTSW	7	79101222	missense	probably benign
R2167:Acan	UTSW	7	79099957	missense	probably benign	0.41
R2189:Acan	UTSW	7	79098091	missense	probably damaging	1.00
R2303:Acan	UTSW	7	79099957	missense	probably benign	0.41
R2496:Acan	UTSW	7	79111317	missense	probably damaging	1.00
R2971:Acan	UTSW	7	79099699	missense	possibly damaging	0.46
R4004:Acan	UTSW	7	79100687	missense	probably damaging	1.00
R4669:Acan	UTSW	7	79101142	missense	probably benign	0.01
R4732:Acan	UTSW	7	79098609	missense	probably damaging	0.99
R4733:Acan	UTSW	7	79098609	missense	probably damaging	0.99
R4742:Acan	UTSW	7	79100769	missense	probably benign	0.41
R4750:Acan	UTSW	7	79092718	missense	probably damaging	1.00
R5022:Acan	UTSW	7	79092808	critical splice donor site	probably null
R5122:Acan	UTSW	7	79100661	missense	probably damaging	0.99
R5190:Acan	UTSW	7	79098541	missense	probably benign	0.03
R5220:Acan	UTSW	7	79088297	missense	probably damaging	0.96
R5414:Acan	UTSW	7	79100988	missense	probably benign	0.00
R5525:Acan	UTSW	7	79099983	missense	probably benign
R5655:Acan	UTSW	7	79100043	missense	possibly damaging	0.89
R5662:Acan	UTSW	7	79100107	missense	possibly damaging	0.78
R5748:Acan	UTSW	7	79089699	missense	probably damaging	0.98
R5758:Acan	UTSW	7	79101214	missense	possibly damaging	0.67
R5996:Acan	UTSW	7	79111320	missense	probably damaging	0.97
R6057:Acan	UTSW	7	79099782	missense	probably null
R6503:Acan	UTSW	7	79097832	missense	probably benign	0.04
R6529:Acan	UTSW	7	79089731	missense	probably benign	0.16
R6887:Acan	UTSW	7	79092483	missense	probably damaging	1.00
R7041:Acan	UTSW	7	79098348	nonsense	probably null
R7193:Acan	UTSW	7	79086342	missense	probably damaging	1.00
R7220:Acan	UTSW	7	79108148	missense
R7263:Acan	UTSW	7	79092318	missense	probably damaging	0.98
R7376:Acan	UTSW	7	79088307	critical splice donor site	probably null
R7502:Acan	UTSW	7	79094203	missense	probably damaging	1.00
R7571:Acan	UTSW	7	79086267	missense	probably damaging	1.00
R7709:Acan	UTSW	7	79089608	missense	probably damaging	1.00
R7835:Acan	UTSW	7	79099875	missense	probably benign	0.08
R8051:Acan	UTSW	7	79100779	missense	probably damaging	0.96
R8131:Acan	UTSW	7	79091338	missense	possibly damaging	0.92
R8138:Acan	UTSW	7	79098427	missense	probably benign	0.12
R8324:Acan	UTSW	7	79091056	missense	probably damaging	1.00
R8482:Acan	UTSW	7	79096744	missense	probably benign	0.02
R8511:Acan	UTSW	7	79097935	missense	possibly damaging	0.94
R8716:Acan	UTSW	7	79112690	missense	probably damaging	1.00
R8753:Acan	UTSW	7	79098768	missense	possibly damaging	0.83
R8810:Acan	UTSW	7	79099704	missense	probably damaging	1.00
R8898:Acan	UTSW	7	79100353	missense	possibly damaging	0.59
R8956:Acan	UTSW	7	79100965	missense	probably benign	0.00
R9199:Acan	UTSW	7	79086309	missense	probably damaging	1.00
R9509:Acan	UTSW	7	79091020	missense	probably damaging	0.96
R9549:Acan	UTSW	7	79092328	missense	probably damaging	1.00
R9572:Acan	UTSW	7	79098729	missense	probably damaging	0.99
R9645:Acan	UTSW	7	79099905	missense	probably benign	0.00
R9742:Acan	UTSW	7	79099367	missense	probably benign	0.00
RF008:Acan	UTSW	7	79092400	missense	possibly damaging	0.83
Z1088:Acan	UTSW	7	79088200	nonsense	probably null
Z1088:Acan	UTSW	7	79100110	missense	probably benign	0.41
Z1088:Acan	UTSW	7	79111354	missense	probably benign
Z1176:Acan	UTSW	7	79111354	missense	probably benign
Z1177:Acan	UTSW	7	79094170	missense	probably damaging	0.96
Z1177:Acan	UTSW	7	79100137	missense	probably damaging	0.99
Z1177:Acan	UTSW	7	79111354	missense	probably benign

Posted On

2015-04-16