Mutagenetix > Incidental Mutation

Incidental Mutation 'R0835:Acan'

77824

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

039014-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0835 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79114232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 2119 (S2119C)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032827] [ENSMUST00000032835] [ENSMUST00000205782] [ENSMUST00000206092]

AlphaFold

Q61282

Predicted Effect

probably benign
Transcript: ENSMUST00000032827

SMART Domains

Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IGv	65	148	3.28e-8	SMART
LINK	164	261	1.78e-46	SMART
LINK	265	357	3.14e-47	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000032835
AA Change: S2119C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: S2119C

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: ENSMUST00000205782

Predicted Effect

probably benign
Transcript: ENSMUST00000206092

Predicted Effect

unknown
Transcript: ENSMUST00000206779
AA Change: S734C

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.2%
20x: 90.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	T	6: 146,953,538		probably benign	Het
Abca16	A	G	7: 120,465,784	T555A	probably benign	Het
Abca4	A	T	3: 122,126,213	D1048V	probably damaging	Het
Abcf2	G	T	5: 24,574,253	T99N	probably damaging	Het
Adgre4	G	A	17: 55,799,637	C292Y	probably damaging	Het
Alk	A	G	17: 71,869,842	F1489S	probably damaging	Het
Ampd2	A	G	3: 108,076,502	V573A	possibly damaging	Het
Aoc1	T	C	6: 48,905,514	F130S	probably damaging	Het
Bbs2	A	T	8: 94,075,259	I554N	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,778	H76R	probably benign	Het
Cdc14a	G	T	3: 116,328,522	N216K	probably benign	Het
Cep126	T	C	9: 8,130,223	Y69C	probably damaging	Het
Cep135	A	T	5: 76,615,706	R514S	probably benign	Het
Cfi	A	T	3: 129,868,542	Y390F	probably damaging	Het
Chd8	T	C	14: 52,204,025	D870G	probably benign	Het
Clptm1	A	G	7: 19,635,674	V437A	possibly damaging	Het
Coro2b	T	C	9: 62,425,837	N422S	possibly damaging	Het
Coro7	T	C	16: 4,632,254	E577G	probably benign	Het
Crh	G	A	3: 19,694,364	P38L	probably benign	Het
Ctif	T	A	18: 75,435,336	D577V	probably damaging	Het
Deup1	T	A	9: 15,599,751	Q244L	probably damaging	Het
Dhx16	A	G	17: 35,881,689	E171G	probably damaging	Het
Dnah11	A	C	12: 117,916,788	Y3866D	probably damaging	Het
Dync1i2	C	T	2: 71,250,972	L508F	probably damaging	Het
Dync2h1	T	A	9: 7,116,642		probably null	Het
E2f4	C	T	8: 105,300,508	Q235*	probably null	Het
Eif2b3	A	G	4: 117,058,805	H203R	probably damaging	Het
Epha5	A	T	5: 84,386,242	W77R	probably damaging	Het
Gpx6	C	T	13: 21,317,068	P109S	probably damaging	Het
Gsdmc4	A	T	15: 63,893,800	V300E	probably damaging	Het
Gspt1	A	C	16: 11,238,938	S198A	probably benign	Het
Itpk1	C	T	12: 102,675,448	V39M	probably damaging	Het
Kremen2	G	T	17: 23,742,837	P232Q	probably damaging	Het
Lamtor4	C	A	5: 138,259,058	T74K	probably benign	Het
Mbtd1	T	A	11: 93,931,839	F492I	probably benign	Het
Mroh1	G	T	15: 76,451,883	V1486F	probably damaging	Het
Myg1	G	A	15: 102,332,102	V76M	probably damaging	Het
Myo16	G	T	8: 10,272,766	Q65H	probably damaging	Het
Ncapg	A	G	5: 45,681,448	E487G	probably damaging	Het
Ncoa5	T	C	2: 165,002,794	E332G	probably damaging	Het
Nek6	T	A	2: 38,569,631	I162N	possibly damaging	Het
Nwd2	C	A	5: 63,800,130	R268S	probably damaging	Het
Olfr1206	T	C	2: 88,865,001	V132A	probably benign	Het
Olfr461	T	C	6: 40,544,338	I214V	probably benign	Het
Palm3	T	G	8: 84,028,147	S141A	probably benign	Het
Pbrm1	T	C	14: 31,067,579	F728L	probably damaging	Het
Phf3	A	G	1: 30,830,551	V472A	probably benign	Het
Plekha5	T	A	6: 140,568,850	L35*	probably null	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp6r2	G	A	15: 89,268,582	E309K	possibly damaging	Het
Ptpn6	T	A	6: 124,727,536		probably null	Het
Rasgrf1	T	C	9: 90,000,771	V882A	probably benign	Het
Ryr3	T	G	2: 112,650,138	E4335D	probably benign	Het
Slc12a5	T	A	2: 164,994,038	I892N	probably damaging	Het
Slc22a2	G	A	17: 12,612,431	M369I	probably benign	Het
Sox10	A	T	15: 79,156,441	Y300N	probably damaging	Het
Speg	T	C	1: 75,375,674	F79L	probably benign	Het
Sult1b1	T	A	5: 87,517,452	I208L	probably benign	Het
Syt9	A	G	7: 107,506,530	N460S	probably benign	Het
Tecpr1	T	A	5: 144,212,592	N339I	possibly damaging	Het
Tmem63b	C	A	17: 45,660,944	D782Y	possibly damaging	Het
Ttc30a2	T	C	2: 75,978,150	N6S	probably benign	Het
Ttn	T	C	2: 76,894,761		probably benign	Het
Upk3bl	G	T	5: 136,057,331	R40S	probably benign	Het
Usp28	T	C	9: 49,001,524	I25T	probably damaging	Het
Vmn2r27	A	G	6: 124,200,624	Y474H	probably damaging	Het
Vps13a	A	T	19: 16,734,882		probably null	Het
Wdr36	A	T	18: 32,849,082	N371I	possibly damaging	Het
Wnt7b	A	G	15: 85,537,777	F228S	probably damaging	Het
Xirp2	T	C	2: 67,507,910	I165T	possibly damaging	Het
Zan	T	G	5: 137,408,397		probably benign	Het
Zfp760	A	G	17: 21,723,578	D578G	possibly damaging	Het
Zfyve19	T	A	2: 119,210,785	S61T	probably benign	Het
Zfyve9	T	C	4: 108,718,669	D405G	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
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

Predicted Primers

PCR Primer
(F):5'- AAACCATGCTAGGGGCTAAGCCAC -3'
(R):5'- CCACGGGTTACAGTGAATTGCTTTG -3'

Sequencing Primer
(F):5'- TACTGAGGGTCTGTCCATCAAAAG -3'
(R):5'- CACACACAATGTGGGTTTTTTTTC -3'

Posted On

2013-10-16