Mutagenetix > Incidental Mutation

Incidental Mutation 'R7273:Aspn'

565413

Institutional Source

Beutler Lab

Gene Symbol

Aspn

Ensembl Gene

ENSMUSG00000021388

Gene Name

asporin

Synonyms

PLAP-1, SLRR1C, 4631401G09Rik

MMRRC Submission

045357-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49697919-49721041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49712352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 222 (E222D)

Ref Sequence

ENSEMBL: ENSMUSP00000021820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021820] [ENSMUST00000177948]

AlphaFold

Q99MQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000021818

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000021820
AA Change: E222D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021820
Gene: ENSMUSG00000021388
AA Change: E222D

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
LRRNT	67	99	8.23e-6	SMART
LRR	98	117	3.36e2	SMART
LRR	118	141	2.49e-1	SMART
LRR	142	165	5.41e0	SMART
LRR	187	212	9.5e1	SMART
Blast:LRR	232	256	9e-6	BLAST
LRR	257	280	4.83e0	SMART
LRR	281	303	6.23e1	SMART
LRR	304	327	2.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177948
AA Change: E222D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000136728
Gene: ENSMUSG00000021388
AA Change: E222D

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
LRRNT	67	99	8.23e-6	SMART
LRR	98	117	3.36e2	SMART
LRR	118	141	2.49e-1	SMART
LRR	142	165	5.41e0	SMART
LRR	187	212	9.5e1	SMART
Blast:LRR	232	256	9e-6	BLAST
LRR	257	280	4.83e0	SMART
LRR	281	303	6.23e1	SMART
LRR	304	327	2.03e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: This gene encodes a member of the small leucine-rich proteoglycan family. The encoded protein is an extracellular matrix protein that modulates the transforming growth factor-beta signaling pathway, regulating cartilage matrix gene expression and cartilage formation. The protein plays a role in the pathology of osteoarthritis. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol10a	A	T	15: 77,373,068 (GRCm39)	I235F	probably damaging	Het
Cfap221	A	T	1: 119,881,948 (GRCm39)	V280D	possibly damaging	Het
Chrd	G	A	16: 20,560,316 (GRCm39)	R922Q	probably benign	Het
Cnga4	T	A	7: 105,056,172 (GRCm39)	V361E	probably damaging	Het
Col15a1	T	A	4: 47,284,467 (GRCm39)		probably null	Het
Col6a4	A	G	9: 105,877,656 (GRCm39)	V2107A	possibly damaging	Het
Eea1	G	T	10: 95,825,493 (GRCm39)	V63F	probably benign	Het
Eml1	A	G	12: 108,504,432 (GRCm39)	H797R	possibly damaging	Het
Il1r2	A	G	1: 40,151,167 (GRCm39)	T141A	probably benign	Het
Il6st	T	C	13: 112,631,832 (GRCm39)	V457A	probably benign	Het
Kif19b	T	A	5: 140,461,767 (GRCm39)	V523E	probably damaging	Het
Lrrc56	T	C	7: 140,789,578 (GRCm39)	C532R	probably benign	Het
Lrrn4	T	C	2: 132,721,749 (GRCm39)	S23G	unknown	Het
Mapk8ip3	A	T	17: 25,125,148 (GRCm39)	D498E	probably benign	Het
Mcam	T	C	9: 44,052,241 (GRCm39)	F584S	possibly damaging	Het
Mdga1	A	T	17: 30,188,912 (GRCm39)	D50E	unknown	Het
Mga	T	C	2: 119,765,695 (GRCm39)	S1320P	probably damaging	Het
Muc5b	G	A	7: 141,405,307 (GRCm39)	G905D	unknown	Het
Ncor2	T	C	5: 125,100,687 (GRCm39)	N1297S		Het
Nisch	A	G	14: 30,896,364 (GRCm39)	V946A	unknown	Het
Npc1l1	A	G	11: 6,168,320 (GRCm39)	F957S	probably damaging	Het
Nuggc	A	G	14: 65,857,057 (GRCm39)	N402S	probably damaging	Het
Nup210l	A	G	3: 90,025,854 (GRCm39)	T159A	probably benign	Het
Or10g6	A	T	9: 39,933,961 (GRCm39)	I91F	probably benign	Het
Otud1	A	G	2: 19,663,873 (GRCm39)	D334G	probably damaging	Het
Pclo	T	C	5: 14,731,608 (GRCm39)	V3370A	unknown	Het
Prdm16	A	G	4: 154,429,910 (GRCm39)	L353P	probably damaging	Het
Prepl	A	C	17: 85,389,420 (GRCm39)	V128G	probably benign	Het
Pum1	T	C	4: 130,478,791 (GRCm39)	V568A	probably damaging	Het
Rab10	G	T	12: 3,306,891 (GRCm39)	S101R	probably benign	Het
Rfx3	C	T	19: 27,779,858 (GRCm39)	R435Q	probably damaging	Het
Rnf213	A	T	11: 119,322,582 (GRCm39)		probably null	Het
Sema5a	A	G	15: 32,417,608 (GRCm39)	D26G	probably benign	Het
Slc49a3	T	C	5: 108,589,857 (GRCm39)	D515G	probably benign	Het
Spata31d1b	G	A	13: 59,865,446 (GRCm39)	V865I	probably benign	Het
Sycp3	A	T	10: 88,305,428 (GRCm39)	Q176H	probably damaging	Het
Tdpoz8	G	T	3: 92,981,475 (GRCm39)	M90I	probably damaging	Het
Tmprss11d	A	T	5: 86,485,098 (GRCm39)	V102D	probably damaging	Het
Top1mt	A	G	15: 75,535,931 (GRCm39)	V457A	probably benign	Het
Tubal3	T	A	13: 3,980,675 (GRCm39)	I129N	probably damaging	Het
Ubr3	G	A	2: 69,809,677 (GRCm39)	D1217N	probably damaging	Het
Uggt1	A	G	1: 36,201,302 (GRCm39)	I1146T	probably damaging	Het
Umod	T	C	7: 119,076,250 (GRCm39)	Q172R	probably benign	Het
Uqcc5	G	T	14: 30,846,555 (GRCm39)	R55S	probably damaging	Het
Zdbf2	C	T	1: 63,342,563 (GRCm39)	A314V	possibly damaging	Het
Zfp787	A	T	7: 6,136,039 (GRCm39)	C71S	possibly damaging	Het
Zhx2	C	T	15: 57,686,824 (GRCm39)	A731V	probably benign	Het

Other mutations in Aspn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Aspn	APN	13	49,719,968 (GRCm39)	missense	probably benign	0.06
IGL00796:Aspn	APN	13	49,710,893 (GRCm39)	missense	probably damaging	0.98
IGL01088:Aspn	APN	13	49,720,029 (GRCm39)	missense	probably benign	0.00
IGL02633:Aspn	APN	13	49,705,363 (GRCm39)	missense	possibly damaging	0.93
IGL03180:Aspn	APN	13	49,716,991 (GRCm39)	missense	probably damaging	1.00
PIT4544001:Aspn	UTSW	13	49,707,458 (GRCm39)	nonsense	probably null
R0699:Aspn	UTSW	13	49,705,258 (GRCm39)	missense	possibly damaging	0.63
R1445:Aspn	UTSW	13	49,710,849 (GRCm39)	missense	possibly damaging	0.75
R1749:Aspn	UTSW	13	49,705,261 (GRCm39)	missense	probably benign	0.01
R2907:Aspn	UTSW	13	49,705,374 (GRCm39)	missense	probably damaging	1.00
R3744:Aspn	UTSW	13	49,720,036 (GRCm39)	missense	probably damaging	0.96
R3745:Aspn	UTSW	13	49,720,036 (GRCm39)	missense	probably damaging	0.96
R4625:Aspn	UTSW	13	49,710,901 (GRCm39)	missense	probably benign
R5061:Aspn	UTSW	13	49,720,080 (GRCm39)	missense	probably damaging	0.99
R5712:Aspn	UTSW	13	49,716,995 (GRCm39)	missense	probably damaging	1.00
R7079:Aspn	UTSW	13	49,720,031 (GRCm39)	missense	probably damaging	1.00
R7210:Aspn	UTSW	13	49,719,967 (GRCm39)	missense	probably benign	0.14
R7768:Aspn	UTSW	13	49,710,871 (GRCm39)	missense	probably damaging	1.00
R7988:Aspn	UTSW	13	49,705,353 (GRCm39)	missense	possibly damaging	0.92
R9517:Aspn	UTSW	13	49,705,275 (GRCm39)	missense
R9686:Aspn	UTSW	13	49,710,829 (GRCm39)	missense	probably damaging	1.00
R9743:Aspn	UTSW	13	49,705,150 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACACTTCTCCAATATTCTTCAGAG -3'
(R):5'- TCATACTGGTCAGATACGCTG -3'

Sequencing Primer
(F):5'- TCTCCAATATTCTTCAGAGGTATCC -3'
(R):5'- GACCTCTGACTGTAGATAGTTCTGAC -3'

Posted On

2019-06-26