Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01520:Acan'

90463

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01520

Quality Score

Status

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79084570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 58 (H58Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032835]

AlphaFold

Q61282

Predicted Effect

probably damaging
Transcript: ENSMUST00000032835
AA Change: H58Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: H58Q

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,221,911	T1889K	probably damaging	Het
4430402I18Rik	A	T	19: 28,896,132		probably null	Het
4932438A13Rik	T	A	3: 36,973,260	Y2265*	probably null	Het
Atp6v1c2	A	T	12: 17,297,753	L149Q	probably damaging	Het
Cd40lg	A	G	X: 57,219,788	N132D	probably benign	Het
Cemip	G	T	7: 83,948,622	T1060K	probably benign	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Ces5a	A	T	8: 93,519,578	S328T	probably benign	Het
Cfap70	A	G	14: 20,420,687	C497R	probably benign	Het
Cndp2	T	C	18: 84,668,607	K430R	probably benign	Het
Crlf3	T	C	11: 80,060,146	D126G	probably benign	Het
Cxcr1	A	T	1: 74,192,275	L196Q	probably damaging	Het
E330013P04Rik	A	G	19: 60,161,897		noncoding transcript	Het
Erbb2	C	T	11: 98,434,009	H810Y	probably benign	Het
Fam57a	T	C	11: 76,207,225		probably null	Het
Fmn1	C	A	2: 113,444,368		probably benign	Het
Fpr3	A	G	17: 17,971,063	T199A	possibly damaging	Het
Gcsh	A	G	8: 116,983,949		probably benign	Het
Gm10073	T	A	8: 106,573,269	I28F	probably benign	Het
Gucy1a2	C	A	9: 3,759,561	Q456K	probably damaging	Het
Hgs	C	A	11: 120,478,348	P317T	probably damaging	Het
Inmt	C	A	6: 55,171,228	V139F	probably damaging	Het
Kcnma1	C	A	14: 23,501,143	M460I	possibly damaging	Het
Map9	A	T	3: 82,378,965	N359I	probably damaging	Het
Mavs	T	C	2: 131,245,343	S254P	probably benign	Het
Mcts1	T	A	X: 38,611,759		probably benign	Het
Mecp2	C	A	X: 74,035,841	R344L	possibly damaging	Het
Olfr1006	T	C	2: 85,674,357	T265A	probably benign	Het
Olfr1427	A	G	19: 12,099,636	M1T	probably null	Het
Olfr1469	G	T	19: 13,410,750	M60I	probably damaging	Het
Olfr392	T	G	11: 73,814,786	T99P	probably damaging	Het
Olfr957	T	C	9: 39,511,046	I225V	possibly damaging	Het
Olfr969	T	G	9: 39,795,378	M1R	probably null	Het
Rasgrp1	T	C	2: 117,288,663	I498V	probably damaging	Het
Rbbp6	T	A	7: 122,985,675	S185T	possibly damaging	Het
Rd3	A	T	1: 191,985,322	H251L	possibly damaging	Het
Rnf180	T	A	13: 105,250,356	D148V	probably damaging	Het
Rnf43	C	A	11: 87,664,716	A34E	probably damaging	Het
Rslcan18	A	G	13: 67,102,108	V21A	probably benign	Het
Sept9	T	C	11: 117,352,643	V128A	probably damaging	Het
Slc36a1	A	G	11: 55,219,656	H103R	probably benign	Het
Ssh2	A	G	11: 77,449,906	D628G	probably damaging	Het
Tmem119	A	G	5: 113,795,485	F85S	probably damaging	Het
Tpp1	A	T	7: 105,747,729	I398N	probably benign	Het
Ttc3	T	C	16: 94,390,207	Y203H	probably benign	Het
Vars	G	T	17: 35,013,873	V898L	probably benign	Het
Vmn1r85	A	C	7: 13,085,154	V21G	probably damaging	Het
Zfp521	T	C	18: 13,938,988	H65R	possibly 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
IGL02069:Acan	APN	7	79092752	missense	possibly damaging	0.83
IGL02629:Acan	APN	7	79111979	missense	possibly damaging	0.90
IGL02713:Acan	APN	7	79100244	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
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

2013-12-09