Mutagenetix > Incidental Mutation

Incidental Mutation 'R8138:Acan'

632353

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

067566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8138 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78703231-78764847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78748175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 982 (T982N)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably benign
Transcript: ENSMUST00000032835
AA Change: T982N

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: T982N

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

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.5%

Validation Efficiency

98% (52/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	G	16: 8,418,829 (GRCm39)	D141G	probably benign	Het
Abcc1	A	G	16: 14,290,751 (GRCm39)	T1454A	probably damaging	Het
Adam5	A	G	8: 25,271,778 (GRCm39)	L543P	probably damaging	Het
Akap13	T	A	7: 75,351,979 (GRCm39)		probably null	Het
Akirin1	G	A	4: 123,637,238 (GRCm39)	P116S	probably benign	Het
Bzw2	T	C	12: 36,159,819 (GRCm39)	D236G	probably benign	Het
C1qtnf2	G	A	11: 43,376,838 (GRCm39)	G70D	probably damaging	Het
Cd44	A	G	2: 102,662,842 (GRCm39)	I566T	probably benign	Het
Cltb	C	T	13: 54,746,596 (GRCm39)	D135N	possibly damaging	Het
Cpeb2	T	C	5: 43,392,352 (GRCm39)	V516A		Het
Cx3cr1	A	T	9: 119,880,649 (GRCm39)	M251K	possibly damaging	Het
Ect2l	A	T	10: 18,045,153 (GRCm39)	S301T	probably damaging	Het
Fgd6	A	G	10: 93,970,005 (GRCm39)	K1218R	probably null	Het
Fsip2	T	C	2: 82,806,141 (GRCm39)	V820A	possibly damaging	Het
Gnas	A	G	2: 174,140,179 (GRCm39)	E116G	probably benign	Het
Greb1l	T	C	18: 10,533,060 (GRCm39)	Y985H	probably benign	Het
Gtpbp3	T	C	8: 71,945,242 (GRCm39)	L438P	probably damaging	Het
Habp4	A	G	13: 64,323,884 (GRCm39)	D269G	possibly damaging	Het
Igf2r	A	T	17: 12,920,125 (GRCm39)	S1405T	probably benign	Het
Il17rc	A	G	6: 113,459,500 (GRCm39)	D482G	probably damaging	Het
Kmt2d	A	G	15: 98,741,534 (GRCm39)	I4542T	unknown	Het
Lag3	A	G	6: 124,882,455 (GRCm39)	V347A	probably damaging	Het
Lmtk2	C	T	5: 144,112,415 (GRCm39)	S1045L	probably damaging	Het
Mblac2	A	G	13: 81,859,769 (GRCm39)	D41G	probably damaging	Het
Mfsd6	C	T	1: 52,748,671 (GRCm39)	V65I	probably benign	Het
Neb	A	G	2: 52,065,707 (GRCm39)	V6175A	possibly damaging	Het
Nin	A	G	12: 70,089,672 (GRCm39)	S1248P		Het
Nlrp4b	A	T	7: 10,449,458 (GRCm39)	M554L	probably benign	Het
Or51ab3	T	A	7: 103,201,266 (GRCm39)	H91Q	probably benign	Het
Or5an11	G	A	19: 12,246,436 (GRCm39)	V281M	possibly damaging	Het
Or5p59	A	T	7: 107,702,764 (GRCm39)	S83C	possibly damaging	Het
Or8k53	T	C	2: 86,177,930 (GRCm39)	Y60C	possibly damaging	Het
Pik3r4	C	A	9: 105,546,234 (GRCm39)	S861R	possibly damaging	Het
Ppp1r16a	T	C	15: 76,575,921 (GRCm39)	V95A	probably damaging	Het
Prss40	T	C	1: 34,597,080 (GRCm39)	Q156R	probably damaging	Het
Rhbdd3	CACCATGGCTGCTACCATGGCTGCT	CACCATGGCTGCT	11: 5,054,303 (GRCm39)		probably benign	Het
Rnf170	T	C	8: 26,616,009 (GRCm39)		probably null	Het
Smlr1	A	G	10: 25,411,939 (GRCm39)	V16A	probably benign	Het
Sowahb	A	G	5: 93,191,342 (GRCm39)	L459P	probably benign	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Tpo	T	C	12: 30,124,103 (GRCm39)	D899G	probably benign	Het
Traj7	C	T	14: 54,448,982 (GRCm39)	P19S		Het
Trit1	G	A	4: 122,937,582 (GRCm39)	W131*	probably null	Het
Vcpip1	GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC	GGGAGGAGGCGGCGGCGGC	1: 9,818,334 (GRCm39)		probably benign	Het
Vmn1r4	A	G	6: 56,934,391 (GRCm39)	*298W	probably null	Het
Vmn2r124	T	A	17: 18,283,610 (GRCm39)	W435R	probably damaging	Het
Zbtb41	C	T	1: 139,369,545 (GRCm39)	R641C	probably damaging	Het
Zfp84	T	A	7: 29,474,797 (GRCm39)	F23Y	probably damaging	Het
Zfp879	G	T	11: 50,724,275 (GRCm39)	Y260*	probably null	Het
Zswim9	A	T	7: 12,995,337 (GRCm39)	F273Y	probably damaging	Het

Other mutations in Acan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Acan	APN	7	78,747,572 (GRCm39)	missense	probably benign	0.00
IGL01118:Acan	APN	7	78,748,401 (GRCm39)	missense	possibly damaging	0.78
IGL01145:Acan	APN	7	78,749,030 (GRCm39)	missense	probably damaging	1.00
IGL01308:Acan	APN	7	78,748,997 (GRCm39)	missense	probably damaging	0.98
IGL01520:Acan	APN	7	78,734,318 (GRCm39)	missense	probably damaging	0.96
IGL02069:Acan	APN	7	78,742,500 (GRCm39)	missense	possibly damaging	0.83
IGL02629:Acan	APN	7	78,761,727 (GRCm39)	missense	possibly damaging	0.90
IGL02713:Acan	APN	7	78,749,992 (GRCm39)	missense	possibly damaging	0.90
IGL03001:Acan	APN	7	78,761,042 (GRCm39)	missense	probably damaging	0.99
IGL03081:Acan	APN	7	78,748,291 (GRCm39)	missense	probably benign	0.01
Disproportion	UTSW	7	78,742,066 (GRCm39)	missense	probably damaging	0.98
Hollowleg	UTSW	7	78,748,096 (GRCm39)	nonsense	probably null
Sublimate	UTSW	7	78,761,068 (GRCm39)	missense	probably damaging	0.97
Vacuo	UTSW	7	78,738,055 (GRCm39)	critical splice donor site	probably null
IGL03147:Acan	UTSW	7	78,740,804 (GRCm39)	missense	probably damaging	1.00
R0281:Acan	UTSW	7	78,750,033 (GRCm39)	missense	probably damaging	1.00
R0372:Acan	UTSW	7	78,750,349 (GRCm39)	missense	probably benign	0.00
R0599:Acan	UTSW	7	78,761,038 (GRCm39)	splice site	probably benign
R0827:Acan	UTSW	7	78,749,419 (GRCm39)	missense	probably benign	0.00
R0835:Acan	UTSW	7	78,763,980 (GRCm39)	missense	probably damaging	0.96
R1496:Acan	UTSW	7	78,750,552 (GRCm39)	missense	probably benign	0.06
R1716:Acan	UTSW	7	78,731,946 (GRCm39)	missense	unknown
R1761:Acan	UTSW	7	78,743,833 (GRCm39)	nonsense	probably null
R1848:Acan	UTSW	7	78,748,783 (GRCm39)	missense	probably benign
R2002:Acan	UTSW	7	78,750,541 (GRCm39)	missense	probably damaging	1.00
R2025:Acan	UTSW	7	78,750,970 (GRCm39)	missense	probably benign
R2167:Acan	UTSW	7	78,749,705 (GRCm39)	missense	probably benign	0.41
R2189:Acan	UTSW	7	78,747,839 (GRCm39)	missense	probably damaging	1.00
R2303:Acan	UTSW	7	78,749,705 (GRCm39)	missense	probably benign	0.41
R2496:Acan	UTSW	7	78,761,065 (GRCm39)	missense	probably damaging	1.00
R2971:Acan	UTSW	7	78,749,447 (GRCm39)	missense	possibly damaging	0.46
R4004:Acan	UTSW	7	78,750,435 (GRCm39)	missense	probably damaging	1.00
R4669:Acan	UTSW	7	78,750,890 (GRCm39)	missense	probably benign	0.01
R4732:Acan	UTSW	7	78,748,357 (GRCm39)	missense	probably damaging	0.99
R4733:Acan	UTSW	7	78,748,357 (GRCm39)	missense	probably damaging	0.99
R4742:Acan	UTSW	7	78,750,517 (GRCm39)	missense	probably benign	0.41
R4750:Acan	UTSW	7	78,742,466 (GRCm39)	missense	probably damaging	1.00
R5022:Acan	UTSW	7	78,742,556 (GRCm39)	critical splice donor site	probably null
R5122:Acan	UTSW	7	78,750,409 (GRCm39)	missense	probably damaging	0.99
R5190:Acan	UTSW	7	78,748,289 (GRCm39)	missense	probably benign	0.03
R5220:Acan	UTSW	7	78,738,045 (GRCm39)	missense	probably damaging	0.96
R5414:Acan	UTSW	7	78,750,736 (GRCm39)	missense	probably benign	0.00
R5525:Acan	UTSW	7	78,749,731 (GRCm39)	missense	probably benign
R5655:Acan	UTSW	7	78,749,791 (GRCm39)	missense	possibly damaging	0.89
R5662:Acan	UTSW	7	78,749,855 (GRCm39)	missense	possibly damaging	0.78
R5748:Acan	UTSW	7	78,739,447 (GRCm39)	missense	probably damaging	0.98
R5758:Acan	UTSW	7	78,750,962 (GRCm39)	missense	possibly damaging	0.67
R5996:Acan	UTSW	7	78,761,068 (GRCm39)	missense	probably damaging	0.97
R6057:Acan	UTSW	7	78,749,530 (GRCm39)	missense	probably null
R6503:Acan	UTSW	7	78,747,580 (GRCm39)	missense	probably benign	0.04
R6529:Acan	UTSW	7	78,739,479 (GRCm39)	missense	probably benign	0.16
R6887:Acan	UTSW	7	78,742,231 (GRCm39)	missense	probably damaging	1.00
R7041:Acan	UTSW	7	78,748,096 (GRCm39)	nonsense	probably null
R7193:Acan	UTSW	7	78,736,090 (GRCm39)	missense	probably damaging	1.00
R7220:Acan	UTSW	7	78,757,896 (GRCm39)	missense
R7263:Acan	UTSW	7	78,742,066 (GRCm39)	missense	probably damaging	0.98
R7376:Acan	UTSW	7	78,738,055 (GRCm39)	critical splice donor site	probably null
R7502:Acan	UTSW	7	78,743,951 (GRCm39)	missense	probably damaging	1.00
R7571:Acan	UTSW	7	78,736,015 (GRCm39)	missense	probably damaging	1.00
R7709:Acan	UTSW	7	78,739,356 (GRCm39)	missense	probably damaging	1.00
R7835:Acan	UTSW	7	78,749,623 (GRCm39)	missense	probably benign	0.08
R8051:Acan	UTSW	7	78,750,527 (GRCm39)	missense	probably damaging	0.96
R8131:Acan	UTSW	7	78,741,086 (GRCm39)	missense	possibly damaging	0.92
R8324:Acan	UTSW	7	78,740,804 (GRCm39)	missense	probably damaging	1.00
R8482:Acan	UTSW	7	78,746,492 (GRCm39)	missense	probably benign	0.02
R8511:Acan	UTSW	7	78,747,683 (GRCm39)	missense	possibly damaging	0.94
R8716:Acan	UTSW	7	78,762,438 (GRCm39)	missense	probably damaging	1.00
R8753:Acan	UTSW	7	78,748,516 (GRCm39)	missense	possibly damaging	0.83
R8810:Acan	UTSW	7	78,749,452 (GRCm39)	missense	probably damaging	1.00
R8898:Acan	UTSW	7	78,750,101 (GRCm39)	missense	possibly damaging	0.59
R8956:Acan	UTSW	7	78,750,713 (GRCm39)	missense	probably benign	0.00
R9199:Acan	UTSW	7	78,736,057 (GRCm39)	missense	probably damaging	1.00
R9509:Acan	UTSW	7	78,740,768 (GRCm39)	missense	probably damaging	0.96
R9549:Acan	UTSW	7	78,742,076 (GRCm39)	missense	probably damaging	1.00
R9572:Acan	UTSW	7	78,748,477 (GRCm39)	missense	probably damaging	0.99
R9645:Acan	UTSW	7	78,749,653 (GRCm39)	missense	probably benign	0.00
R9742:Acan	UTSW	7	78,749,115 (GRCm39)	missense	probably benign	0.00
RF008:Acan	UTSW	7	78,742,148 (GRCm39)	missense	possibly damaging	0.83
Z1088:Acan	UTSW	7	78,761,102 (GRCm39)	missense	probably benign
Z1088:Acan	UTSW	7	78,749,858 (GRCm39)	missense	probably benign	0.41
Z1088:Acan	UTSW	7	78,737,948 (GRCm39)	nonsense	probably null
Z1176:Acan	UTSW	7	78,761,102 (GRCm39)	missense	probably benign
Z1177:Acan	UTSW	7	78,761,102 (GRCm39)	missense	probably benign
Z1177:Acan	UTSW	7	78,749,885 (GRCm39)	missense	probably damaging	0.99
Z1177:Acan	UTSW	7	78,743,918 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GAAACTTCTACTTCTGGGGCAG -3'
(R):5'- TCCAGTAGGAAGAACAGTGATGTC -3'

Sequencing Primer
(F):5'- GAAGAAACCAGTGGACTTCCTTCTG -3'
(R):5'- TGTCTTCTACTCCAGAGGCAGAAG -3'

Posted On

2020-06-30