Mutagenetix > Incidental Mutations

Incidental Mutation 'R5996:Acan'

481122

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

044175-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5996 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79111320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1927 (T1927A)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably damaging
Transcript: ENSMUST00000032835
AA Change: T1927A

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: T1927A

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: T542A

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,518,928	M1T	probably null	Het
4932438A13Rik	T	C	3: 36,931,116	F865S	probably benign	Het
A2m	T	A	6: 121,659,394	W741R	probably damaging	Het
Abcb8	C	T	5: 24,400,139	R108C	possibly damaging	Het
Agbl4	A	G	4: 110,955,672		probably null	Het
Ccr8	T	A	9: 120,094,463	C215S	probably damaging	Het
Cd209b	T	C	8: 3,918,688	T314A	probably benign	Het
Cd244	T	G	1: 171,581,640		probably null	Het
Cdh23	T	C	10: 60,413,577	E849G	possibly damaging	Het
Cep57	A	G	9: 13,809,879	V268A	probably damaging	Het
Clip4	T	C	17: 71,856,310	S626P	probably damaging	Het
Col19a1	C	T	1: 24,328,071	G477R	probably damaging	Het
Col4a4	T	C	1: 82,455,728	D1498G	unknown	Het
Coro6	T	C	11: 77,466,496	V177A	probably benign	Het
Crip3	T	C	17: 46,431,284	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,158,460	C38R	probably damaging	Het
Cyp4f13	C	T	17: 32,929,473	G327R	possibly damaging	Het
Dab2	C	T	15: 6,435,311	Q415*	probably null	Het
Dennd5b	A	G	6: 149,068,095	F287L	probably benign	Het
Dlg4	G	A	11: 70,017,231	R6K	probably benign	Het
Edc4	A	G	8: 105,887,401	K429E	probably damaging	Het
Fam107b	T	A	2: 3,779,630		probably null	Het
Flt4	A	T	11: 49,651,070	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,159,824		probably benign	Het
Gm35060	G	T	18: 32,462,492		probably benign	Het
Gm4894	A	T	9: 49,278,670	I82L	unknown	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Gpr176	A	C	2: 118,283,904		probably null	Het
Gtse1	T	C	15: 85,864,180	L262P	probably benign	Het
Il4ra	T	C	7: 125,567,221	W46R	probably damaging	Het
Itga11	A	G	9: 62,755,673	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,434,830		probably null	Het
Kcnh7	G	A	2: 63,184,097		probably benign	Het
Ly9	T	A	1: 171,601,828	Q230L	probably damaging	Het
Map2	C	A	1: 66,414,884	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,497,906	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,905,245	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,797,763	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269	P192L	probably damaging	Het
Mrpl37	T	C	4: 107,066,507	T97A	probably benign	Het
Mycbpap	C	T	11: 94,513,594	G121D	probably benign	Het
Nabp1	A	G	1: 51,471,385	S153P	probably benign	Het
Nsun3	A	T	16: 62,769,686	F222I	probably benign	Het
Olfr735	A	G	14: 50,345,512	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,685,938	D180V	probably benign	Het
Pex6	C	A	17: 46,714,458		probably null	Het
Phrf1	C	A	7: 141,259,102		probably benign	Het
Ppp1r36	A	G	12: 76,439,162	T365A	possibly damaging	Het
Ranbp10	A	G	8: 105,773,040	M519T	probably benign	Het
Rfx4	G	A	10: 84,840,017	W32*	probably null	Het
Ryr1	T	C	7: 29,024,241	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,612,234	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,209,236	D719G	probably benign	Het
Slfn9	A	G	11: 82,987,484	I273T	possibly damaging	Het
Spice1	A	G	16: 44,384,674	E781G	probably benign	Het
Sspo	C	T	6: 48,494,176	P4686S	possibly damaging	Het
Stab1	G	T	14: 31,139,551	R2500S	probably benign	Het
Stox2	A	T	8: 47,203,147	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,623,483	S633P	probably damaging	Het
Tm9sf4	T	C	2: 153,195,571		probably null	Het
Togaram2	T	A	17: 71,704,783	F486I	probably damaging	Het
Trappc12	A	G	12: 28,747,114	S140P	possibly damaging	Het
Ttc29	A	T	8: 78,276,896	N247I	probably damaging	Het
Uso1	A	T	5: 92,192,730	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,411,909		probably null	Het
Xirp2	T	A	2: 67,511,650	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,310,458	D15E	probably damaging	Het
Zfp661	T	C	2: 127,577,048	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,593,858	I106T	probably benign	Het
Zfyve9	A	C	4: 108,719,360	S175A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACCAGGACACAGCATTTAAGG -3'
(R):5'- CCCTGAACTCAAGACTGCTC -3'

Sequencing Primer
(F):5'- GACACAGCATTTAAGGTGGATTAAAC -3'
(R):5'- GCTCATTTCTGACCAGCAAGG -3'

Posted On

2017-06-26