Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Aspn'

412203

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aspn

Ensembl Gene

ENSMUSG00000021388

Gene Name

asporin

Synonyms

PLAP-1, SLRR1C, 4631401G09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

49697919-49721041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49716991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 256 (R256W)

Ref Sequence

ENSEMBL: ENSMUSP00000136728 (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 damaging
Transcript: ENSMUST00000021820
AA Change: R256W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021820
Gene: ENSMUSG00000021388
AA Change: R256W

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 damaging
Transcript: ENSMUST00000177948
AA Change: R256W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136728
Gene: ENSMUSG00000021388
AA Change: R256W

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

noncoding transcript
Transcript: ENSMUST00000221751

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,183,168 (GRCm39)	L2584F	unknown	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Cpt2	A	T	4: 107,764,157 (GRCm39)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,017,990 (GRCm39)	F38Y	probably benign	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,502,753 (GRCm39)	K706M	probably damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,687,510 (GRCm39)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rab34	A	T	11: 78,081,144 (GRCm39)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,759,401 (GRCm39)		probably null	Het
Sla	A	G	15: 66,661,569 (GRCm39)	I121T	probably benign	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	probably damaging	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
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
R7273:Aspn	UTSW	13	49,712,352 (GRCm39)	missense	probably benign	0.00
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

Posted On

2016-08-02