Mutagenetix > Incidental Mutation

Incidental Mutation 'R7041:Acan'

547057

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 #

R7041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 79098348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 956 (E956*)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably null
Transcript: ENSMUST00000032835
AA Change: E956*

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: E956*

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

probably benign
Transcript: ENSMUST00000206779

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (53/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,754,084	H129L	probably benign	Het
Adgrl4	A	T	3: 151,439,322	H36L	probably benign	Het
Ago1	T	A	4: 126,463,706	I59F	possibly damaging	Het
Anapc1	A	T	2: 128,628,656	V1518E	possibly damaging	Het
Atxn1	A	G	13: 45,566,835	I528T	probably damaging	Het
B4galnt4	A	G	7: 141,070,680	H820R	probably damaging	Het
Cacna1h	T	C	17: 25,394,003	E282G	probably damaging	Het
Camk1	T	A	6: 113,339,514	M95L	probably benign	Het
Capn7	C	T	14: 31,336,685		probably benign	Het
Cav1	A	G	6: 17,339,144	E45G	possibly damaging	Het
Ccdc183	T	G	2: 25,613,670	E185A	probably benign	Het
Ccl2	T	A	11: 82,035,663	M1K	probably null	Het
Cep97	T	A	16: 55,905,754	H590L	probably benign	Het
Dsg1c	A	T	18: 20,266,144	I102F	probably damaging	Het
Fam198a	A	T	9: 121,965,401	Q207L	probably damaging	Het
Fcho2	A	G	13: 98,784,826	Y184H	possibly damaging	Het
Gart	C	T	16: 91,643,143		probably benign	Het
Golga3	G	A	5: 110,208,584		probably null	Het
Hint3	G	T	10: 30,610,384	A133E	probably damaging	Het
Hspe1	T	C	1: 55,089,217		probably null	Het
Insr	A	T	8: 3,258,418	V206E	probably benign	Het
Insrr	T	C	3: 87,815,244	S1258P	probably damaging	Het
Itga11	C	T	9: 62,752,256	T430M	probably damaging	Het
Jmjd1c	G	A	10: 67,220,609	V890I	possibly damaging	Het
Kdm4b	T	A	17: 56,396,592	S717R	probably damaging	Het
Large1	A	T	8: 73,116,464	C144S	probably damaging	Het
Lrat	G	T	3: 82,903,448	Q89K	probably benign	Het
Lrrc66	A	T	5: 73,608,556	F381L	possibly damaging	Het
Myo15	A	G	11: 60,506,006	T2634A	probably damaging	Het
Nup205	T	G	6: 35,224,535	I1182M	possibly damaging	Het
Olfr1023	A	T	2: 85,887,621	I274F	probably benign	Het
Olfr435	T	A	6: 43,201,903	D86E	probably benign	Het
Olfr798	T	A	10: 129,625,734	E109V	probably damaging	Het
Plekha6	T	A	1: 133,272,460	V259D	possibly damaging	Het
Prdm9	C	A	17: 15,544,995	A508S	possibly damaging	Het
Prickle2	A	G	6: 92,376,305	F783L	probably benign	Het
Ptprc	T	C	1: 138,126,309	S31G	probably benign	Het
Rbak	A	T	5: 143,173,471	I609N	probably damaging	Het
Rimklb	A	T	6: 122,459,217	L134*	probably null	Het
Ripor2	A	G	13: 24,693,766	I250V	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spaca6	C	T	17: 17,836,096	L118F	probably benign	Het
Tmem167	G	A	13: 90,098,414	C19Y	probably benign	Het
Togaram1	C	T	12: 65,020,386	T1684I	possibly damaging	Het
Trappc8	T	C	18: 20,874,672	T129A	probably benign	Het
Ubash3a	A	G	17: 31,228,210	S347G	probably benign	Het
Unc80	T	C	1: 66,503,593	S289P	probably benign	Het
Vmn2r11	A	G	5: 109,054,950	I87T	probably damaging	Het
Vmn2r54	A	T	7: 12,629,824	F381I	probably damaging	Het
Wdsub1	A	G	2: 59,852,880	L450P	probably damaging	Het
Xylt2	A	G	11: 94,667,582		probably null	Het
Zfp429	A	T	13: 67,390,711	C205S	probably damaging	Het
Zfp60	T	C	7: 27,749,026	I373T	probably benign	Het
Zfp738	A	G	13: 67,670,301	S524P	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGCCTCAGGAGATGGAGAAG -3'
(R):5'- GAAGTCCACTCAAGTCTCCC -3'

Sequencing Primer
(F):5'- ATACTCCCACAGTTGGCAGGTTG -3'
(R):5'- CACTCCAGAAGCAGAGGTTTCTAG -3'

Posted On

2019-05-13