Mutagenetix > Incidental Mutation

Incidental Mutation 'R7210:Aspn'

561020

Institutional Source

Beutler Lab

Gene Symbol

Aspn

Ensembl Gene

ENSMUSG00000021388

Gene Name

asporin

Synonyms

PLAP-1, SLRR1C, 4631401G09Rik

MMRRC Submission

045239-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49697919-49721041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49719967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 328 (T328A)

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: T328A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021820
Gene: ENSMUSG00000021388
AA Change: T328A

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: T328A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136728
Gene: ENSMUSG00000021388
AA Change: T328A

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	A	11: 94,264,767 (GRCm39)	P194S	probably benign	Het
Ackr2	C	T	9: 121,737,943 (GRCm39)	A106V	possibly damaging	Het
Alg3	G	A	16: 20,424,644 (GRCm39)	P112L	unknown	Het
Areg	T	A	5: 91,288,764 (GRCm39)	Y23*	probably null	Het
B020011L13Rik	A	T	1: 117,729,241 (GRCm39)	E249D	possibly damaging	Het
Bptf	G	A	11: 106,945,290 (GRCm39)	Q2650*	probably null	Het
Btbd3	A	T	2: 138,125,664 (GRCm39)	R283W	probably damaging	Het
Cep131	T	C	11: 119,955,615 (GRCm39)	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,433,900 (GRCm39)	Y959*	probably null	Het
Cnot1	T	C	8: 96,515,286 (GRCm39)	Y25C	probably damaging	Het
Crebbp	G	A	16: 3,902,121 (GRCm39)	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,086,547 (GRCm39)	L373P	probably damaging	Het
Cyp8b1	T	A	9: 121,744,246 (GRCm39)	D362V	probably damaging	Het
D630003M21Rik	T	A	2: 158,057,932 (GRCm39)		probably null	Het
Dpp6	T	C	5: 27,803,801 (GRCm39)	I249T	probably damaging	Het
Fam149b	T	G	14: 20,428,540 (GRCm39)	I475M	probably damaging	Het
Fat1	A	G	8: 45,476,540 (GRCm39)	Y1862C	probably damaging	Het
Fcrl5	A	T	3: 87,353,719 (GRCm39)	N355Y	possibly damaging	Het
Fgd6	C	T	10: 93,969,954 (GRCm39)	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,788,692 (GRCm39)	D174V	probably damaging	Het
Gatb	A	G	3: 85,481,527 (GRCm39)	H26R	probably benign	Het
Gm37240	T	A	3: 84,405,114 (GRCm39)	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135 (GRCm39)	Q609R	probably damaging	Het
Gse1	C	A	8: 120,957,441 (GRCm39)	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,571,564 (GRCm39)	I298L	probably benign	Het
Il31ra	T	C	13: 112,686,034 (GRCm39)	D85G	possibly damaging	Het
Katnip	T	C	7: 125,471,411 (GRCm39)	V1504A	probably damaging	Het
Lyst	T	C	13: 13,831,568 (GRCm39)	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,794,722 (GRCm39)	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,140,155 (GRCm39)	R212C	probably damaging	Het
Myom2	T	C	8: 15,154,114 (GRCm39)	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nop58	G	T	1: 59,749,539 (GRCm39)		probably null	Het
Nudt13	T	A	14: 20,359,852 (GRCm39)	I193N	possibly damaging	Het
Nyap1	C	A	5: 137,736,244 (GRCm39)	R81L	probably damaging	Het
Or1e28-ps1	T	C	11: 73,615,699 (GRCm39)	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,010,069 (GRCm39)		probably benign	Het
Pcf11	C	T	7: 92,312,684 (GRCm39)	A230T	probably benign	Het
Phactr4	A	T	4: 132,085,582 (GRCm39)	*695R	probably null	Het
Pkd1	T	C	17: 24,794,840 (GRCm39)	S2176P	probably damaging	Het
Plch2	C	A	4: 155,093,543 (GRCm39)	R133L	probably damaging	Het
Ptprq	G	T	10: 107,521,032 (GRCm39)	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,580,793 (GRCm39)	T137S	probably benign	Het
R3hdm1	A	G	1: 128,138,945 (GRCm39)	Y718C	possibly damaging	Het
Rftn1	T	A	17: 50,301,335 (GRCm39)	R505*	probably null	Het
Rps15a	A	G	7: 117,708,334 (GRCm39)	F128L	probably benign	Het
Slc25a25	A	T	2: 32,310,408 (GRCm39)	M177K	possibly damaging	Het
Smgc	C	A	15: 91,744,492 (GRCm39)	P631Q	probably damaging	Het
Sox2	T	C	3: 34,705,306 (GRCm39)	S248P	probably damaging	Het
Sycp1	T	C	3: 102,760,808 (GRCm39)	K702E	probably damaging	Het
Tes	G	T	6: 17,104,761 (GRCm39)	C414F	probably damaging	Het
Tet1	A	T	10: 62,650,280 (GRCm39)	C14S	probably null	Het
Tle3	C	T	9: 61,319,587 (GRCm39)	P452S	probably damaging	Het
Tmc6	A	C	11: 117,666,670 (GRCm39)	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,570,495 (GRCm39)	R30*	probably null	Het
Tnrc6b	G	T	15: 80,813,486 (GRCm39)	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,558,284 (GRCm39)	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,920,480 (GRCm39)	R246S	probably damaging	Het
Zscan22	T	A	7: 12,640,748 (GRCm39)	C331S	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
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
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'- TGTATGAGGCCCATGTTCCAG -3'
(R):5'- AGAATCATTCATGTGCAGAAGGAC -3'

Sequencing Primer
(F):5'- TATGAGGCCCATGTTCCAGATAAAAC -3'
(R):5'- ACTACCATTACTAGGACAGTTCAAG -3'

Posted On

2019-06-26