Mutagenetix > Incidental Mutations

Incidental Mutation 'R6529:Acan'

522188

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6529 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79089731 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 296 (M296L)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032835
AA Change: M296L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: M296L

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

Meta Mutation Damage Score

0.1287

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (41/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn2	T	C	5: 121,811,614		probably null	Het
B3galnt2	G	T	13: 13,995,792	R242S	probably benign	Het
Casz1	G	A	4: 148,938,189	E571K	probably damaging	Het
Ccdc163	A	G	4: 116,708,924		probably null	Het
Cd109	A	G	9: 78,712,625	D1383G	probably damaging	Het
Cd200r1	A	G	16: 44,789,702	T95A	possibly damaging	Het
Chd2	T	C	7: 73,503,443	E219G	possibly damaging	Het
Dnah14	T	A	1: 181,666,469	V1730D	probably damaging	Het
Eps8	G	A	6: 137,514,337	H348Y	possibly damaging	Het
Fam92a	A	G	4: 12,168,978	V175A	probably damaging	Het
Fbxo2	A	T	4: 148,165,054	D187V	probably damaging	Het
Fsip2	A	T	2: 82,982,313	Y2992F	probably benign	Het
Gle1	A	T	2: 29,935,527	T10S	possibly damaging	Het
Got2	T	C	8: 95,888,385		probably benign	Het
Gtf3c6	T	C	10: 40,251,255	T34A	probably benign	Het
Hist1h4j	G	T	13: 21,735,306	V71F	possibly damaging	Het
Klf15	C	T	6: 90,467,412	T323I	probably damaging	Het
Krtap5-3	C	A	7: 142,202,342	C305*	probably null	Het
Map2k6	A	T	11: 110,492,562	D99V	probably damaging	Het
Nckap5l	G	T	15: 99,426,594	P676Q	probably benign	Het
Nup188	A	T	2: 30,326,454	T757S	possibly damaging	Het
Olfr1337	C	T	4: 118,781,710	V292I	probably benign	Het
Olfr638	T	C	7: 104,003,926	V217A	probably benign	Het
Peg3	C	A	7: 6,708,072	A1384S	probably damaging	Het
Plekho2	C	T	9: 65,573,101	R14H	probably benign	Het
Qsox2	A	T	2: 26,217,741	C247S	probably damaging	Het
Slc25a13	A	G	6: 6,073,451	V469A	probably benign	Het
Slitrk3	T	C	3: 73,051,218	T74A	probably benign	Het
Spata48	T	C	11: 11,515,009	F120S	possibly damaging	Het
Sult1a1	T	C	7: 126,675,138	T91A	probably benign	Het
Sult3a2	T	C	10: 33,779,737	Y82C	probably damaging	Het
Taf1b	A	T	12: 24,556,651	H490L	possibly damaging	Het
Trrap	T	A	5: 144,834,204	H2804Q	probably benign	Het
Uhrf1bp1	A	G	17: 27,879,776	I218M	possibly damaging	Het
Usp8	A	G	2: 126,725,378	I106V	probably benign	Het
Wdcp	T	A	12: 4,851,143	V333D	probably damaging	Het
Wdr46	T	A	17: 33,949,146	L564Q	possibly damaging	Het
Wrn	T	C	8: 33,335,976		probably null	Het
Zfp664	C	T	5: 124,886,288	H249Y	probably damaging	Het
Zfp975	A	C	7: 42,661,901	H429Q	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
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
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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGATAGCAAGCTAAACCTCCG -3'
(R):5'- CAGTCCCACCTGTGTAACAG -3'

Sequencing Primer
(F):5'- CCGGGAAAAGATGTGGACCTCTC -3'
(R):5'- TGTAACAGATGGCGTCATATCG -3'

Posted On

2018-06-06