Mutagenetix > Incidental Mutation

Incidental Mutation 'R1445:Aspn'

158818

Institutional Source

Beutler Lab

Gene Symbol

Aspn

Ensembl Gene

ENSMUSG00000021388

Gene Name

asporin

Synonyms

PLAP-1, SLRR1C, 4631401G09Rik

MMRRC Submission

039500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1445 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49697919-49721041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49710849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 165 (S165P)

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

possibly damaging
Transcript: ENSMUST00000021820
AA Change: S165P

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021820
Gene: ENSMUSG00000021388
AA Change: S165P

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

possibly damaging
Transcript: ENSMUST00000177948
AA Change: S165P

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136728
Gene: ENSMUSG00000021388
AA Change: S165P

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

Meta Mutation Damage Score

0.1085

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 84.0%

Validation Efficiency

96% (101/105)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	G	T	3: 116,861,385 (GRCm39)		noncoding transcript	Het
2300003K06Rik	G	T	11: 99,728,793 (GRCm39)	Q17K	probably benign	Het
Abca16	T	C	7: 120,119,256 (GRCm39)	V999A	probably benign	Het
Actn3	C	T	19: 4,915,483 (GRCm39)		probably benign	Het
Agap2	T	A	10: 126,926,981 (GRCm39)		probably benign	Het
Ago3	C	A	4: 126,265,580 (GRCm39)	R278L	probably benign	Het
Aldh1a2	T	C	9: 71,192,492 (GRCm39)	V449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplnr	A	G	2: 84,967,353 (GRCm39)	Y126C	probably damaging	Het
Apob	T	C	12: 8,066,084 (GRCm39)	I4351T	possibly damaging	Het
Ash1l	T	C	3: 88,914,659 (GRCm39)	L1763P	probably benign	Het
Atg13	A	T	2: 91,510,335 (GRCm39)	V349E	probably damaging	Het
Atp1b2	T	A	11: 69,493,309 (GRCm39)		probably null	Het
B3glct	A	T	5: 149,677,604 (GRCm39)	D411V	probably damaging	Het
Bcar3	A	T	3: 122,316,840 (GRCm39)	I255F	probably damaging	Het
Cacna1b	G	A	2: 24,608,148 (GRCm39)		probably benign	Het
Cep164	T	G	9: 45,690,198 (GRCm39)	E675A	possibly damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chst8	C	A	7: 34,447,593 (GRCm39)	M8I	possibly damaging	Het
Clec4n	A	G	6: 123,212,475 (GRCm39)	E67G	probably benign	Het
Cobll1	A	T	2: 64,929,480 (GRCm39)	D653E	probably damaging	Het
Col9a1	T	C	1: 24,276,579 (GRCm39)		probably null	Het
Crip2	T	C	12: 113,107,124 (GRCm39)	L30P	probably damaging	Het
Ctbp1	C	T	5: 33,418,407 (GRCm39)	V22I	probably benign	Het
Cwc22	T	C	2: 77,747,521 (GRCm39)		probably benign	Het
Cyp4a32	C	A	4: 115,460,147 (GRCm39)	Y119*	probably null	Het
Dido1	G	T	2: 180,313,263 (GRCm39)	A463E	possibly damaging	Het
Dnah7a	G	A	1: 53,567,956 (GRCm39)	P1880L	probably benign	Het
Dock2	T	A	11: 34,189,705 (GRCm39)	T1489S	probably benign	Het
Dsp	A	G	13: 38,375,907 (GRCm39)	T1231A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,717 (GRCm39)		probably benign	Het
Entrep1	G	A	19: 23,998,998 (GRCm39)	T140M	probably damaging	Het
Epc1	A	T	18: 6,452,360 (GRCm39)	M233K	probably damaging	Het
Gigyf2	A	G	1: 87,371,360 (GRCm39)		probably benign	Het
Greb1	T	G	12: 16,757,852 (GRCm39)	H58P	probably damaging	Het
Gtpbp1	T	C	15: 79,597,649 (GRCm39)	I348T	possibly damaging	Het
Hck	A	T	2: 152,970,192 (GRCm39)	N64Y	probably benign	Het
Herc2	T	C	7: 55,818,744 (GRCm39)	S2812P	probably damaging	Het
Inpp4b	T	A	8: 82,679,463 (GRCm39)		probably null	Het
Kcnq5	A	C	1: 21,475,248 (GRCm39)	S473A	probably benign	Het
Lrat	T	G	3: 82,810,676 (GRCm39)	D115A	probably damaging	Het
Lyst	A	G	13: 13,814,639 (GRCm39)	I1131M	possibly damaging	Het
Man2a2	T	C	7: 80,018,310 (GRCm39)	D160G	probably benign	Het
Marf1	C	T	16: 13,933,688 (GRCm39)	D1567N	probably benign	Het
Mars1	T	C	10: 127,133,857 (GRCm39)	D680G	possibly damaging	Het
Mat1a	T	C	14: 40,843,797 (GRCm39)	S339P	probably damaging	Het
Megf8	T	C	7: 25,042,081 (GRCm39)	S1300P	probably damaging	Het
Mga	T	C	2: 119,733,179 (GRCm39)	L9S	probably damaging	Het
Mllt6	T	C	11: 97,563,277 (GRCm39)		probably benign	Het
Mrpl37	A	G	4: 106,921,692 (GRCm39)	L179P	probably benign	Het
Mtnr1a	G	T	8: 45,540,782 (GRCm39)	V248L	probably benign	Het
Mylk	T	C	16: 34,635,835 (GRCm39)	S19P	possibly damaging	Het
Or11g1	A	G	14: 50,651,858 (GRCm39)	T286A	probably damaging	Het
Pacc1	A	G	1: 191,080,559 (GRCm39)		probably benign	Het
Parp8	A	T	13: 117,161,886 (GRCm39)		probably null	Het
Pcnx2	T	C	8: 126,479,023 (GRCm39)	D2075G	probably damaging	Het
Pigo	A	T	4: 43,021,460 (GRCm39)	I494K	probably benign	Het
Pkd1l1	A	T	11: 8,820,313 (GRCm39)	D1217E	probably benign	Het
Pkhd1l1	T	C	15: 44,369,040 (GRCm39)	V895A	probably benign	Het
Plcb4	A	T	2: 135,842,109 (GRCm39)	H1031L	possibly damaging	Het
Plxnb1	A	G	9: 108,937,989 (GRCm39)	K1245R	probably null	Het
Pold1	C	T	7: 44,192,181 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,498,423 (GRCm39)	I885V	probably damaging	Het
Ptprz1	A	G	6: 23,050,473 (GRCm39)	D1398G	probably damaging	Het
Pygm	G	A	19: 6,439,917 (GRCm39)	A364T	probably benign	Het
Rbl1	T	C	2: 157,035,018 (GRCm39)	N354S	probably benign	Het
Scgb2b19	C	T	7: 32,979,037 (GRCm39)		probably null	Het
Slc26a8	C	T	17: 28,867,187 (GRCm39)	V545M	possibly damaging	Het
Slc27a1	T	A	8: 72,036,757 (GRCm39)		probably null	Het
Smpd1	A	G	7: 105,205,881 (GRCm39)	D416G	possibly damaging	Het
Sorbs3	A	G	14: 70,431,095 (GRCm39)	V284A	probably benign	Het
Stfa2l1	T	C	16: 35,982,154 (GRCm39)	V75A	probably damaging	Het
Syndig1	A	G	2: 149,772,841 (GRCm39)	D166G	probably damaging	Het
Tcp10a	G	A	17: 7,593,406 (GRCm39)		probably null	Het
Themis2	T	A	4: 132,510,212 (GRCm39)	I663F	possibly damaging	Het
Thrap3	T	C	4: 126,070,129 (GRCm39)	Q586R	probably damaging	Het
Tinag	C	A	9: 76,952,798 (GRCm39)	C62F	probably damaging	Het
Tmod1	T	C	4: 46,090,884 (GRCm39)	Y146H	probably damaging	Het
Tmprss4	T	A	9: 45,095,683 (GRCm39)	I54F	possibly damaging	Het
Tnks	A	C	8: 35,301,757 (GRCm39)		probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,680,538 (GRCm39)	E844G	probably benign	Het
Ubtd2	C	T	11: 32,466,125 (GRCm39)	R115W	probably damaging	Het
Ubxn6	T	C	17: 56,376,042 (GRCm39)	D373G	probably benign	Het
Upf1	T	A	8: 70,794,174 (GRCm39)	Q244L	probably benign	Het
Usp33	A	G	3: 152,074,271 (GRCm39)	I372M	probably damaging	Het
Usp34	A	G	11: 23,301,629 (GRCm39)	E351G	probably damaging	Het
Utrn	A	G	10: 12,554,318 (GRCm39)		probably benign	Het
Vmn1r78	A	G	7: 11,886,508 (GRCm39)	K40E	possibly damaging	Het
Vmn2r7	T	A	3: 64,632,223 (GRCm39)	M80L	probably benign	Het
Vps13a	G	T	19: 16,678,602 (GRCm39)	Y1126*	probably null	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Wnk2	C	T	13: 49,224,586 (GRCm39)	D992N	probably damaging	Het
Zpbp2	C	A	11: 98,444,670 (GRCm39)	T66K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCACCACCCTTAGTAAACAGAAATTC -3'
(R):5'- GCCAAGTGTGTCAGGAGATTGTTGAAA -3'

Sequencing Primer
(F):5'- gacctttcaagacagttcttcc -3'
(R):5'- TGTGTCAGGAGATTGTTGAAAAAGAG -3'

Posted On

2014-03-14