Mutagenetix > Incidental Mutation

Incidental Mutation 'R5758:Acan'

445140

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

043203-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78703231-78764847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78750962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1911 (E1911V)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032835
AA Change: E1911V

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: E1911V

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

unknown
Transcript: ENSMUST00000206779
AA Change: E488V

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.4%
20x: 95.5%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,264,536 (GRCm39)	N2973D	probably damaging	Het
Adamts20	T	C	15: 94,292,531 (GRCm39)	N193S	probably benign	Het
Arhgap28	T	C	17: 68,180,154 (GRCm39)	D81G	probably benign	Het
Calhm3	A	G	19: 47,140,190 (GRCm39)	V301A	probably damaging	Het
Celsr1	C	T	15: 85,825,465 (GRCm39)	G1556D	probably benign	Het
Cfap221	A	G	1: 119,862,288 (GRCm39)	L598P	probably benign	Het
Col6a6	T	C	9: 105,638,717 (GRCm39)		probably null	Het
Dmxl2	T	A	9: 54,380,248 (GRCm39)	I142F	probably benign	Het
Dpy19l4	C	T	4: 11,276,886 (GRCm39)	V338M	probably damaging	Het
Dpys	A	C	15: 39,690,395 (GRCm39)	D319E	possibly damaging	Het
Dsc3	A	G	18: 20,122,591 (GRCm39)	V111A	probably damaging	Het
Galnt5	T	C	2: 57,888,442 (GRCm39)	V14A	probably benign	Het
Hebp2	C	A	10: 18,420,155 (GRCm39)	V93L	probably damaging	Het
Igkv8-21	A	T	6: 70,292,009 (GRCm39)	S78T	possibly damaging	Het
Jak2	T	A	19: 29,287,043 (GRCm39)	D1036E	probably damaging	Het
Kazn	A	G	4: 141,868,982 (GRCm39)		probably null	Het
Kif9	T	C	9: 110,318,947 (GRCm39)	V143A	probably damaging	Het
Lhcgr	T	C	17: 89,049,976 (GRCm39)	I517V	probably damaging	Het
Llgl1	T	C	11: 60,599,393 (GRCm39)	F458S	probably damaging	Het
Mrgprb3	C	A	7: 48,293,067 (GRCm39)	M161I	probably benign	Het
Muc5b	A	T	7: 141,412,720 (GRCm39)	I1889F	unknown	Het
Mysm1	A	G	4: 94,840,598 (GRCm39)	V606A	probably damaging	Het
Nipal3	T	C	4: 135,179,874 (GRCm39)	D348G	probably benign	Het
Olfml2b	G	A	1: 170,496,833 (GRCm39)		probably null	Het
Or5p5	T	C	7: 107,414,022 (GRCm39)	V77A	probably damaging	Het
Or5p72	T	A	7: 108,022,369 (GRCm39)	V197D	probably benign	Het
Orc5	T	C	5: 22,734,256 (GRCm39)	D176G	possibly damaging	Het
Rapgef6	A	G	11: 54,559,470 (GRCm39)	N1041S	probably damaging	Het
Ryr3	G	A	2: 112,672,320 (GRCm39)	R1384C	probably damaging	Het
Sar1a	A	G	10: 61,520,851 (GRCm39)	Y22C	probably benign	Het
Shcbp1	T	C	8: 4,799,355 (GRCm39)		probably null	Het
Smim17	C	T	7: 6,427,788 (GRCm39)	H25Y	possibly damaging	Het
Tcstv7a	T	C	13: 120,289,791 (GRCm39)	D135G	probably damaging	Het
Trim10	C	T	17: 37,188,044 (GRCm39)	T420I	possibly damaging	Het
Trip13	G	T	13: 74,085,614 (GRCm39)	S29R	probably benign	Het
Tubgcp5	C	T	7: 55,468,643 (GRCm39)	R713C	probably damaging	Het
Uckl1	C	A	2: 181,211,746 (GRCm39)	G420C	probably damaging	Het
Vangl1	A	T	3: 102,091,408 (GRCm39)	V226D	probably damaging	Het
Zdhhc17	A	G	10: 110,780,256 (GRCm39)	*633Q	probably null	Het
Zfhx4	A	G	3: 5,467,680 (GRCm39)	K2613E	probably damaging	Het
Zfp236	G	A	18: 82,689,834 (GRCm39)	T215M	probably damaging	Het
Zfp563	A	G	17: 33,323,894 (GRCm39)	H163R	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	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
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
R8138:Acan	UTSW	7	78,748,175 (GRCm39)	missense	probably benign	0.12
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'- ACCATCACAGAGTCCGAGTG -3'
(R):5'- AAGAACTCGGCATGACGCTC -3'

Sequencing Primer
(F):5'- AGAGTCCGAGTGGGCCC -3'
(R):5'- ATGACGCTCAGTGCTTGC -3'

Posted On

2016-11-21