Mutagenetix > Incidental Mutation

Incidental Mutation 'R5414:Acan'

427634

Institutional Source

Beutler Lab

Gene Symbol

Acan

Ensembl Gene

ENSMUSG00000030607

Gene Name

aggrecan

Synonyms

Agc1, Cspg1, b2b183Clo

MMRRC Submission

042983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78703231-78764847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78750736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1836 (T1836A)

Ref Sequence

ENSEMBL: ENSMUSP00000032835 (fasta)

Gene Model

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

AlphaFold

Q61282

Predicted Effect

probably benign
Transcript: ENSMUST00000032835
AA Change: T1836A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
AA Change: T1836A

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: T413A

Meta Mutation Damage Score

0.0662

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (55/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,205,448 (GRCm39)	S278P	probably damaging	Het
Akr1c18	T	A	13: 4,186,734 (GRCm39)	D238V	probably damaging	Het
Akt3	A	G	1: 176,877,817 (GRCm39)	V317A	probably damaging	Het
Atp2b2	G	A	6: 113,819,102 (GRCm39)	P64S	probably damaging	Het
Atr	A	G	9: 95,752,757 (GRCm39)	N609S	probably benign	Het
Bcat1	A	G	6: 144,961,173 (GRCm39)		probably null	Het
C1rl	C	T	6: 124,485,427 (GRCm39)	A266V	probably damaging	Het
Cd34	A	G	1: 194,630,219 (GRCm39)	E51G	probably benign	Het
Celsr3	A	G	9: 108,717,241 (GRCm39)	E2161G	possibly damaging	Het
Clec2h	G	T	6: 128,651,749 (GRCm39)	A153S	probably benign	Het
Cnih1	T	C	14: 47,016,440 (GRCm39)	T105A	probably benign	Het
Coro1c	A	G	5: 113,986,607 (GRCm39)	I279T	possibly damaging	Het
Ddx11	A	G	17: 66,455,763 (GRCm39)	T721A	probably benign	Het
Fbn2	C	A	18: 58,226,477 (GRCm39)	A766S	probably damaging	Het
Focad	C	T	4: 88,328,939 (GRCm39)		probably benign	Het
Galnt16	A	T	12: 80,630,822 (GRCm39)	D300V	probably damaging	Het
Gbp2b	T	C	3: 142,304,852 (GRCm39)	L96P	probably damaging	Het
Gm10192	T	C	4: 97,071,346 (GRCm39)	S20G	probably null	Het
Gm10288	T	C	3: 146,544,717 (GRCm39)		noncoding transcript	Het
Gm4181	C	T	14: 51,873,047 (GRCm39)		probably null	Het
Gm6327	T	A	16: 12,578,222 (GRCm39)		noncoding transcript	Het
Hfm1	A	G	5: 107,049,942 (GRCm39)	I409T	probably damaging	Het
Ibtk	T	C	9: 85,608,742 (GRCm39)	E390G	possibly damaging	Het
Ifit1bl1	T	A	19: 34,571,324 (GRCm39)	I378F	probably damaging	Het
Kcnh4	T	C	11: 100,637,722 (GRCm39)	D645G	probably damaging	Het
Krt33b	T	C	11: 99,920,612 (GRCm39)	T14A	probably benign	Het
Lrch3	T	A	16: 32,806,335 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,543,697 (GRCm39)	L226H	probably damaging	Het
Myo1e	C	A	9: 70,229,640 (GRCm39)		probably null	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nploc4	A	T	11: 120,304,469 (GRCm39)	Y251N	probably damaging	Het
Or4b12	T	C	2: 90,096,046 (GRCm39)	T243A	probably benign	Het
Pdk4	T	C	6: 5,485,499 (GRCm39)	I397V	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Pgm5	A	G	19: 24,686,689 (GRCm39)	I506T	probably damaging	Het
Pgs1	T	G	11: 117,905,502 (GRCm39)	I499S	probably damaging	Het
Ppp6r3	A	G	19: 3,557,330 (GRCm39)	S253P	probably damaging	Het
Prag1	C	G	8: 36,606,776 (GRCm39)	P839R	probably benign	Het
Rin3	C	T	12: 102,356,116 (GRCm39)	Q806*	probably null	Het
Ros1	T	C	10: 52,031,189 (GRCm39)	D484G	probably damaging	Het
Scamp5	A	G	9: 57,354,507 (GRCm39)	V49A	probably benign	Het
Sis	C	A	3: 72,859,826 (GRCm39)	V310L	probably benign	Het
Svep1	T	C	4: 58,206,322 (GRCm39)	T19A	possibly damaging	Het
Tcstv2b	A	C	13: 120,373,872 (GRCm39)	D139E	probably damaging	Het
Tenm3	A	C	8: 48,689,390 (GRCm39)	S2066A	probably damaging	Het
Thra	A	G	11: 98,651,783 (GRCm39)	I102V	probably benign	Het
Trim30a	A	C	7: 104,060,348 (GRCm39)	V476G	probably damaging	Het
Vmn2r3	T	A	3: 64,166,978 (GRCm39)	R718*	probably null	Het
Washc4	A	G	10: 83,391,967 (GRCm39)	T218A	possibly damaging	Het
Xrcc1	A	G	7: 24,269,643 (GRCm39)	Y401C	probably damaging	Het
Zfp629	T	C	7: 127,210,454 (GRCm39)	T452A	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
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
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'- CTGCATGGAATCACTTCTGCC -3'
(R):5'- ATCTGTCAGGGACATGGTTG -3'

Sequencing Primer
(F):5'- TGCCTTCCATGAAACAGATCTGG -3'
(R):5'- CAGGGACATGGTTGTTTCTGC -3'

Posted On

2016-09-01