Mutagenetix > Incidental Mutation

Incidental Mutation 'R1848:Acan'

207892

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

MMRRC Submission

039873-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79099035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1185 (F1185L)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably benign
Transcript: ENSMUST00000032835
AA Change: F1185L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: F1185L

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

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 87,568,493 (GRCm38)	Y86*	probably null	Het
Aadac	A	G	3: 60,039,697 (GRCm38)	E272G	probably damaging	Het
Abcc8	A	T	7: 46,166,902 (GRCm38)	D271E	probably benign	Het
Adam1a	A	T	5: 121,519,620 (GRCm38)	C537S	probably damaging	Het
Ago2	A	G	15: 73,123,965 (GRCm38)	V395A	probably benign	Het
Alox15	A	G	11: 70,350,752 (GRCm38)	V101A	probably damaging	Het
Ankra2	T	C	13: 98,271,124 (GRCm38)	I194T	probably damaging	Het
Apobec4	C	A	1: 152,756,230 (GRCm38)	P3H	probably damaging	Het
Arid3b	G	T	9: 57,796,677 (GRCm38)	Y329*	probably null	Het
Atm	A	T	9: 53,468,012 (GRCm38)	S1993T	probably benign	Het
Bpgm	T	G	6: 34,487,734 (GRCm38)	S129A	probably benign	Het
Brat1	A	G	5: 140,718,509 (GRCm38)	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,342,570 (GRCm38)	S128T	probably benign	Het
Cd300lg	A	T	11: 102,046,206 (GRCm38)		probably benign	Het
Cdc34b	C	A	11: 94,742,477 (GRCm38)	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,401,310 (GRCm38)	V1767E	probably benign	Het
Cep350	T	C	1: 155,953,651 (GRCm38)	D169G	probably benign	Het
Col7a1	A	T	9: 108,969,565 (GRCm38)	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,630,434 (GRCm38)	L724P	probably damaging	Het
Crb1	T	A	1: 139,237,012 (GRCm38)	I1125F	probably damaging	Het
Ctif	T	A	18: 75,519,941 (GRCm38)	D415V	probably damaging	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Dhrs2	A	G	14: 55,240,841 (GRCm38)	D237G	probably benign	Het
Dhx9	T	C	1: 153,465,753 (GRCm38)	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,219,713 (GRCm38)	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,505,681 (GRCm38)	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,906,615 (GRCm38)	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,066,107 (GRCm38)	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166 (GRCm38)	T3245S	probably benign	Het
Ect2l	A	G	10: 18,200,033 (GRCm38)	L35P	probably damaging	Het
Efcab5	A	T	11: 77,103,306 (GRCm38)	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,681,867 (GRCm38)	R697P	probably damaging	Het
Emsy	T	A	7: 98,600,821 (GRCm38)	E753V	probably damaging	Het
Entpd3	A	G	9: 120,558,419 (GRCm38)	I227M	probably damaging	Het
Epn1	T	A	7: 5,089,998 (GRCm38)	V103E	probably damaging	Het
Esrra	T	C	19: 6,912,010 (GRCm38)	D337G	probably benign	Het
Fam129c	T	C	8: 71,603,769 (GRCm38)	M371T	possibly damaging	Het
Fam83e	A	T	7: 45,728,769 (GRCm38)	K406*	probably null	Het
Fam83e	A	T	7: 45,728,770 (GRCm38)	K406M	possibly damaging	Het
Fat2	A	G	11: 55,311,558 (GRCm38)	I230T	probably damaging	Het
Fbxl16	A	G	17: 25,816,446 (GRCm38)	I6V	probably benign	Het
Fgf23	T	C	6: 127,073,193 (GRCm38)	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,821,549 (GRCm38)	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113 (GRCm38)	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823 (GRCm38)	E449G	probably benign	Het
Gbf1	T	G	19: 46,272,037 (GRCm38)	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,341,265 (GRCm38)	E157G	probably damaging	Het
Glra3	G	T	8: 55,940,907 (GRCm38)	A18S	probably benign	Het
Gm6625	A	C	8: 89,146,834 (GRCm38)		noncoding transcript	Het
Gpx4	A	G	10: 80,056,036 (GRCm38)		probably benign	Het
Grb10	A	G	11: 11,946,029 (GRCm38)	F264L	possibly damaging	Het
Grik3	T	C	4: 125,694,138 (GRCm38)	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,036,795 (GRCm38)		probably benign	Het
Haus8	G	A	8: 71,256,123 (GRCm38)		probably benign	Het
Hip1	G	A	5: 135,435,141 (GRCm38)		probably null	Het
Hist3h2ba	A	T	11: 58,949,102 (GRCm38)	I55F	possibly damaging	Het
Hspbap1	T	A	16: 35,818,764 (GRCm38)		probably null	Het
Htr2b	T	A	1: 86,099,429 (GRCm38)	I452F	possibly damaging	Het
Hydin	T	A	8: 110,569,808 (GRCm38)	H3656Q	probably benign	Het
Klb	T	A	5: 65,348,837 (GRCm38)	D142E	probably benign	Het
Lamb3	A	T	1: 193,334,616 (GRCm38)	T777S	possibly damaging	Het
Lins1	C	A	7: 66,714,322 (GRCm38)	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,281,971 (GRCm38)	K5R	possibly damaging	Het
Lpp	G	A	16: 24,761,655 (GRCm38)	M40I	probably damaging	Het
Mia2	A	T	12: 59,170,251 (GRCm38)		probably benign	Het
Miip	A	C	4: 147,863,092 (GRCm38)	F204V	probably damaging	Het
Mmp21	T	C	7: 133,677,153 (GRCm38)	R323G	probably benign	Het
Mta3	T	A	17: 83,755,551 (GRCm38)		probably benign	Het
Myh1	A	G	11: 67,213,630 (GRCm38)	K1004R	probably benign	Het
Myh14	T	A	7: 44,632,429 (GRCm38)	I810F	probably damaging	Het
Nbas	A	C	12: 13,413,597 (GRCm38)	D1295A	probably damaging	Het
Npr2	T	G	4: 43,632,384 (GRCm38)	V67G	probably benign	Het
Oas1f	C	A	5: 120,855,429 (GRCm38)	Q235K	probably damaging	Het
Olfr109	T	A	17: 37,467,047 (GRCm38)	S280R	probably damaging	Het
Olfr59	G	T	11: 74,289,213 (GRCm38)	C189F	probably damaging	Het
Olfr60	T	A	7: 140,345,987 (GRCm38)	M1L	probably benign	Het
Olfr629	T	C	7: 103,741,174 (GRCm38)	N22S	probably benign	Het
Olfr857	C	T	9: 19,713,090 (GRCm38)	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541 (GRCm38)		probably null	Het
Pde1b	A	G	15: 103,525,340 (GRCm38)		probably null	Het
Pdilt	T	C	7: 119,489,384 (GRCm38)	T465A	probably benign	Het
Plxnd1	T	C	6: 115,966,546 (GRCm38)	H1233R	probably damaging	Het
Ppm1b	T	A	17: 84,994,124 (GRCm38)	M144K	probably benign	Het
Prkdc	T	C	16: 15,808,058 (GRCm38)	L3316S	probably benign	Het
Prm2	T	A	16: 10,791,591 (GRCm38)		probably benign	Het
Prmt7	T	C	8: 106,237,008 (GRCm38)	V240A	probably benign	Het
Prx	C	A	7: 27,518,888 (GRCm38)	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,490,894 (GRCm38)	V131A	probably benign	Het
Ric1	T	A	19: 29,600,813 (GRCm38)		probably null	Het
Rnf150	A	T	8: 82,864,010 (GRCm38)	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628 (GRCm38)	R298W	probably damaging	Het
Rp1	T	A	1: 4,347,232 (GRCm38)	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,684,013 (GRCm38)		probably null	Het
Sdad1	A	G	5: 92,292,651 (GRCm38)		probably null	Het
Sept9	T	C	11: 117,353,083 (GRCm38)		probably benign	Het
Serinc3	T	C	2: 163,645,489 (GRCm38)		probably benign	Het
Shc3	C	T	13: 51,461,388 (GRCm38)	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,316,606 (GRCm38)	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,923,111 (GRCm38)	I376V	probably benign	Het
Slmap	A	T	14: 26,422,574 (GRCm38)	F719L	probably benign	Het
Smgc	A	G	15: 91,859,758 (GRCm38)	N573D	possibly damaging	Het
Spx	G	A	6: 142,414,079 (GRCm38)		probably null	Het
Srrt	C	G	5: 137,296,945 (GRCm38)	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,630,597 (GRCm38)	R78S	probably benign	Het
Tchhl1	A	G	3: 93,471,101 (GRCm38)	R371G	probably damaging	Het
Teddm2	C	T	1: 153,850,448 (GRCm38)	A174T	probably benign	Het
Tktl2	G	A	8: 66,512,347 (GRCm38)	V186M	probably damaging	Het
Trim33	T	C	3: 103,324,640 (GRCm38)		probably benign	Het
Tspan31	A	G	10: 127,069,458 (GRCm38)	V40A	probably damaging	Het
Uevld	A	G	7: 46,945,227 (GRCm38)		probably benign	Het
Vcl	G	T	14: 21,008,995 (GRCm38)	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,816,224 (GRCm38)	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,428,107 (GRCm38)	V212M	probably damaging	Het
Vps13c	A	G	9: 67,936,340 (GRCm38)	T1968A	probably benign	Het
Vtn	A	G	11: 78,500,567 (GRCm38)	R269G	probably damaging	Het
Wdcp	G	A	12: 4,850,245 (GRCm38)	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,752,832 (GRCm38)	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266 (GRCm38)	P123L	probably benign	Het
Zfp318	T	C	17: 46,406,055 (GRCm38)	S1038P	possibly damaging	Het
Zfp873	A	G	10: 82,060,572 (GRCm38)	D416G	probably benign	Het

Other mutations in Acan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Acan	APN	7	79,097,824 (GRCm38)	missense	probably benign	0.00
IGL01118:Acan	APN	7	79,098,653 (GRCm38)	missense	possibly damaging	0.78
IGL01145:Acan	APN	7	79,099,282 (GRCm38)	missense	probably damaging	1.00
IGL01308:Acan	APN	7	79,099,249 (GRCm38)	missense	probably damaging	0.98
IGL01520:Acan	APN	7	79,084,570 (GRCm38)	missense	probably damaging	0.96
IGL02069:Acan	APN	7	79,092,752 (GRCm38)	missense	possibly damaging	0.83
IGL02629:Acan	APN	7	79,111,979 (GRCm38)	missense	possibly damaging	0.90
IGL02713:Acan	APN	7	79,100,244 (GRCm38)	missense	possibly damaging	0.90
IGL03001:Acan	APN	7	79,111,294 (GRCm38)	missense	probably damaging	0.99
IGL03081:Acan	APN	7	79,098,543 (GRCm38)	missense	probably benign	0.01
Disproportion	UTSW	7	79,092,318 (GRCm38)	missense	probably damaging	0.98
Hollowleg	UTSW	7	79,098,348 (GRCm38)	nonsense	probably null
Sublimate	UTSW	7	79,111,320 (GRCm38)	missense	probably damaging	0.97
Vacuo	UTSW	7	79,088,307 (GRCm38)	critical splice donor site	probably null
IGL03147:Acan	UTSW	7	79,091,056 (GRCm38)	missense	probably damaging	1.00
R0281:Acan	UTSW	7	79,100,285 (GRCm38)	missense	probably damaging	1.00
R0372:Acan	UTSW	7	79,100,601 (GRCm38)	missense	probably benign	0.00
R0599:Acan	UTSW	7	79,111,290 (GRCm38)	splice site	probably benign
R0827:Acan	UTSW	7	79,099,671 (GRCm38)	missense	probably benign	0.00
R0835:Acan	UTSW	7	79,114,232 (GRCm38)	missense	probably damaging	0.96
R1496:Acan	UTSW	7	79,100,804 (GRCm38)	missense	probably benign	0.06
R1716:Acan	UTSW	7	79,082,198 (GRCm38)	missense	unknown
R1761:Acan	UTSW	7	79,094,085 (GRCm38)	nonsense	probably null
R2002:Acan	UTSW	7	79,100,793 (GRCm38)	missense	probably damaging	1.00
R2025:Acan	UTSW	7	79,101,222 (GRCm38)	missense	probably benign
R2167:Acan	UTSW	7	79,099,957 (GRCm38)	missense	probably benign	0.41
R2189:Acan	UTSW	7	79,098,091 (GRCm38)	missense	probably damaging	1.00
R2303:Acan	UTSW	7	79,099,957 (GRCm38)	missense	probably benign	0.41
R2496:Acan	UTSW	7	79,111,317 (GRCm38)	missense	probably damaging	1.00
R2971:Acan	UTSW	7	79,099,699 (GRCm38)	missense	possibly damaging	0.46
R4004:Acan	UTSW	7	79,100,687 (GRCm38)	missense	probably damaging	1.00
R4669:Acan	UTSW	7	79,101,142 (GRCm38)	missense	probably benign	0.01
R4732:Acan	UTSW	7	79,098,609 (GRCm38)	missense	probably damaging	0.99
R4733:Acan	UTSW	7	79,098,609 (GRCm38)	missense	probably damaging	0.99
R4742:Acan	UTSW	7	79,100,769 (GRCm38)	missense	probably benign	0.41
R4750:Acan	UTSW	7	79,092,718 (GRCm38)	missense	probably damaging	1.00
R5022:Acan	UTSW	7	79,092,808 (GRCm38)	critical splice donor site	probably null
R5122:Acan	UTSW	7	79,100,661 (GRCm38)	missense	probably damaging	0.99
R5190:Acan	UTSW	7	79,098,541 (GRCm38)	missense	probably benign	0.03
R5220:Acan	UTSW	7	79,088,297 (GRCm38)	missense	probably damaging	0.96
R5414:Acan	UTSW	7	79,100,988 (GRCm38)	missense	probably benign	0.00
R5525:Acan	UTSW	7	79,099,983 (GRCm38)	missense	probably benign
R5655:Acan	UTSW	7	79,100,043 (GRCm38)	missense	possibly damaging	0.89
R5662:Acan	UTSW	7	79,100,107 (GRCm38)	missense	possibly damaging	0.78
R5748:Acan	UTSW	7	79,089,699 (GRCm38)	missense	probably damaging	0.98
R5758:Acan	UTSW	7	79,101,214 (GRCm38)	missense	possibly damaging	0.67
R5996:Acan	UTSW	7	79,111,320 (GRCm38)	missense	probably damaging	0.97
R6057:Acan	UTSW	7	79,099,782 (GRCm38)	missense	probably null
R6503:Acan	UTSW	7	79,097,832 (GRCm38)	missense	probably benign	0.04
R6529:Acan	UTSW	7	79,089,731 (GRCm38)	missense	probably benign	0.16
R6887:Acan	UTSW	7	79,092,483 (GRCm38)	missense	probably damaging	1.00
R7041:Acan	UTSW	7	79,098,348 (GRCm38)	nonsense	probably null
R7193:Acan	UTSW	7	79,086,342 (GRCm38)	missense	probably damaging	1.00
R7220:Acan	UTSW	7	79,108,148 (GRCm38)	missense
R7263:Acan	UTSW	7	79,092,318 (GRCm38)	missense	probably damaging	0.98
R7376:Acan	UTSW	7	79,088,307 (GRCm38)	critical splice donor site	probably null
R7502:Acan	UTSW	7	79,094,203 (GRCm38)	missense	probably damaging	1.00
R7571:Acan	UTSW	7	79,086,267 (GRCm38)	missense	probably damaging	1.00
R7709:Acan	UTSW	7	79,089,608 (GRCm38)	missense	probably damaging	1.00
R7835:Acan	UTSW	7	79,099,875 (GRCm38)	missense	probably benign	0.08
R8051:Acan	UTSW	7	79,100,779 (GRCm38)	missense	probably damaging	0.96
R8131:Acan	UTSW	7	79,091,338 (GRCm38)	missense	possibly damaging	0.92
R8138:Acan	UTSW	7	79,098,427 (GRCm38)	missense	probably benign	0.12
R8324:Acan	UTSW	7	79,091,056 (GRCm38)	missense	probably damaging	1.00
R8482:Acan	UTSW	7	79,096,744 (GRCm38)	missense	probably benign	0.02
R8511:Acan	UTSW	7	79,097,935 (GRCm38)	missense	possibly damaging	0.94
R8716:Acan	UTSW	7	79,112,690 (GRCm38)	missense	probably damaging	1.00
R8753:Acan	UTSW	7	79,098,768 (GRCm38)	missense	possibly damaging	0.83
R8810:Acan	UTSW	7	79,099,704 (GRCm38)	missense	probably damaging	1.00
R8898:Acan	UTSW	7	79,100,353 (GRCm38)	missense	possibly damaging	0.59
R8956:Acan	UTSW	7	79,100,965 (GRCm38)	missense	probably benign	0.00
R9199:Acan	UTSW	7	79,086,309 (GRCm38)	missense	probably damaging	1.00
R9509:Acan	UTSW	7	79,091,020 (GRCm38)	missense	probably damaging	0.96
R9549:Acan	UTSW	7	79,092,328 (GRCm38)	missense	probably damaging	1.00
R9572:Acan	UTSW	7	79,098,729 (GRCm38)	missense	probably damaging	0.99
R9645:Acan	UTSW	7	79,099,905 (GRCm38)	missense	probably benign	0.00
R9742:Acan	UTSW	7	79,099,367 (GRCm38)	missense	probably benign	0.00
RF008:Acan	UTSW	7	79,092,400 (GRCm38)	missense	possibly damaging	0.83
Z1088:Acan	UTSW	7	79,111,354 (GRCm38)	missense	probably benign
Z1088:Acan	UTSW	7	79,100,110 (GRCm38)	missense	probably benign	0.41
Z1088:Acan	UTSW	7	79,088,200 (GRCm38)	nonsense	probably null
Z1176:Acan	UTSW	7	79,111,354 (GRCm38)	missense	probably benign
Z1177:Acan	UTSW	7	79,111,354 (GRCm38)	missense	probably benign
Z1177:Acan	UTSW	7	79,100,137 (GRCm38)	missense	probably damaging	0.99
Z1177:Acan	UTSW	7	79,094,170 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGTGGTCTTCCATCTGGAGG -3'
(R):5'- ATGGGCCACTTCCAATGTCTG -3'

Sequencing Primer
(F):5'- GAGAGGGTCTAGAAACTTCTGCCTC -3'
(R):5'- TCCAGAGGGAAAGCCATTTACTTC -3'

Posted On

2014-06-23