Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00423:Acan'

5224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, b2b183Clo, Cspg1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00423

Quality Score

Status

Chromosome

Chromosomal Location

79053483-79115099 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79097824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 781 (E781G)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably benign
Transcript: ENSMUST00000032835
AA Change: E781G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: E781G

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

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	G	A	14: 8,473,370 (GRCm38)	P600S	possibly damaging	Het
Acp7	T	C	7: 28,614,697 (GRCm38)	T358A	possibly damaging	Het
Adamtsl2	C	A	2: 27,085,088 (GRCm38)	T199K	probably damaging	Het
Ap4e1	T	A	2: 127,028,289 (GRCm38)	S179T	probably damaging	Het
BC048671	A	G	6: 90,303,218 (GRCm38)	T39A	probably benign	Het
Cnr1	G	A	4: 33,944,116 (GRCm38)	S168N	probably damaging	Het
Cp	T	C	3: 19,985,662 (GRCm38)	V881A	possibly damaging	Het
Cyp4x1	T	C	4: 115,121,948 (GRCm38)	T151A	probably benign	Het
Drd2	T	C	9: 49,395,758 (GRCm38)	I48T	probably damaging	Het
Gemin5	A	T	11: 58,163,817 (GRCm38)	I253N	probably damaging	Het
Herc3	T	A	6: 58,868,715 (GRCm38)	I407K	probably damaging	Het
Ighmbp2	G	T	19: 3,268,704 (GRCm38)	H457Q	probably benign	Het
Mboat1	A	G	13: 30,195,793 (GRCm38)		probably benign	Het
Myh2	T	C	11: 67,197,345 (GRCm38)	V1929A	probably benign	Het
Nucb2	T	A	7: 116,521,831 (GRCm38)		probably benign	Het
Pcsk5	T	C	19: 17,642,559 (GRCm38)	N383S	probably benign	Het
Pde1a	A	G	2: 79,865,670 (GRCm38)	L443P	probably damaging	Het
Prph2	A	T	17: 46,919,778 (GRCm38)	N199I	probably damaging	Het
Rab27b	A	G	18: 69,996,067 (GRCm38)		probably null	Het
Ranbp3	G	A	17: 56,709,238 (GRCm38)	D336N	probably damaging	Het
Rangap1	T	C	15: 81,721,993 (GRCm38)	D49G	probably benign	Het
Rasa3	G	A	8: 13,595,410 (GRCm38)		probably benign	Het
Serpina6	T	A	12: 103,651,903 (GRCm38)	N217I	probably damaging	Het
Sorbs2	A	G	8: 45,799,706 (GRCm38)		probably null	Het
Spire1	A	G	18: 67,529,015 (GRCm38)	V116A	probably damaging	Het
Tdrd1	T	C	19: 56,851,464 (GRCm38)	V652A	possibly damaging	Het
Tmprss11g	T	C	5: 86,492,191 (GRCm38)	E193G	probably benign	Het
Zfp451	A	T	1: 33,777,579 (GRCm38)	V213D	probably benign	Het

Other mutations in Acan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1848:Acan	UTSW	7	79,099,035 (GRCm38)	missense	probably benign
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

Posted On

2012-04-20