Mutagenetix > Incidental Mutations

Incidental Mutation 'R5855:Spon1'

454868

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

MMRRC Submission

043229-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R5855 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114029072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 354 (D354E)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046687]

AlphaFold

Q8VCC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000046687
AA Change: D354E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: D354E

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Reeler	44	172	1e-24	PFAM
Pfam:Spond_N	205	399	7.5e-74	PFAM
low complexity region	431	442	N/A	INTRINSIC
TSP1	445	495	7.92e-8	SMART
TSP1	504	555	6.57e-14	SMART
TSP1	561	611	2.29e-13	SMART
TSP1	617	666	1.45e-15	SMART
TSP1	671	721	1.21e-12	SMART
low complexity region	730	747	N/A	INTRINSIC
TSP1	757	806	3.12e-6	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display increased trabecular and cortical bone mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	G	7: 131,424,599	L57R	probably damaging	Het
Bmpr1b	G	A	3: 141,871,385	T55M	possibly damaging	Het
Cep350	G	A	1: 155,953,762	T132I	probably benign	Het
Cops4	A	T	5: 100,547,414	M400L	probably benign	Het
Cul1	G	A	6: 47,523,213	D653N	probably benign	Het
Cyp3a13	C	G	5: 137,919,056	L36F	probably damaging	Het
Dcaf10	T	C	4: 45,342,558	F131L	probably benign	Het
Dgkh	T	C	14: 78,624,504		probably null	Het
Igll1	C	T	16: 16,861,057	V130M	probably damaging	Het
Kif2c	C	T	4: 117,182,542		probably benign	Het
Klra7	T	C	6: 130,218,958	D262G	possibly damaging	Het
Lrrc27	T	C	7: 139,218,335		probably benign	Het
Maf	A	G	8: 115,705,792	S358P	probably benign	Het
Map1a	A	G	2: 121,303,674	D1419G	possibly damaging	Het
Map3k1	G	A	13: 111,755,979	A914V	probably benign	Het
Naa25	T	G	5: 121,423,692	L436R	possibly damaging	Het
Ndc1	T	C	4: 107,383,707	I294T	probably damaging	Het
Nek1	A	C	8: 61,016,272	D121A	probably damaging	Het
Nfil3	C	T	13: 52,968,710	G53R	probably benign	Het
Olfr63	T	C	17: 33,269,336	V204A	possibly damaging	Het
Parp14	A	T	16: 35,840,927	Y1550*	probably null	Het
Patl1	A	G	19: 11,921,516	I192V	probably damaging	Het
Pax3	G	A	1: 78,121,651	T367I	probably damaging	Het
Pla2g4a	C	T	1: 149,880,063	V208M	probably damaging	Het
Prdm10	A	T	9: 31,337,323	K347M	probably damaging	Het
Prkd1	A	T	12: 50,392,916	M376K	probably benign	Het
Prkg1	C	T	19: 30,894,694	V219I	possibly damaging	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Scn3a	T	C	2: 65,464,730	I1550V	possibly damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Sox4	T	C	13: 28,952,996	E9G	probably damaging	Het
Stat2	T	A	10: 128,283,494	L450H	probably damaging	Het
Tek	T	A	4: 94,853,553	M849K	probably damaging	Het
Tmem63c	G	A	12: 87,075,726	D433N	probably damaging	Het
Tnpo3	G	A	6: 29,589,033	T106I	probably damaging	Het
Tns1	G	T	1: 73,918,033	A1674D	possibly damaging	Het
Trim8	T	C	19: 46,515,410	V467A	possibly damaging	Het
Trmo	T	A	4: 46,382,568	H183L	probably benign	Het
Trpm1	C	A	7: 64,268,962	C683*	probably null	Het
Vsig10	T	G	5: 117,338,270	L263R	probably damaging	Het
Zfp874a	A	T	13: 67,442,693	Y291N	probably benign	Het

Other mutations in Spon1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Spon1	APN	7	114034290	missense	probably damaging	1.00
IGL02385:Spon1	APN	7	113766330	start codon destroyed	probably null	0.56
IGL02496:Spon1	APN	7	114036662	missense	probably benign	0.00
IGL02562:Spon1	APN	7	114036761	missense	probably benign	0.12
IGL03063:Spon1	APN	7	114033025	missense	possibly damaging	0.85
IGL03153:Spon1	APN	7	114030344	missense	probably damaging	1.00
IGL03392:Spon1	APN	7	114034287	missense	probably damaging	0.99
Rust	UTSW	7	114016791	missense	possibly damaging	0.77
Wilt	UTSW	7	113766384	missense	probably damaging	0.98
R0512:Spon1	UTSW	7	113836833	missense	possibly damaging	0.59
R0646:Spon1	UTSW	7	114039821	missense	probably benign	0.04
R1194:Spon1	UTSW	7	113886798	missense	probably benign
R1832:Spon1	UTSW	7	114016785	missense	probably benign	0.26
R2391:Spon1	UTSW	7	113886847	missense	probably damaging	1.00
R3747:Spon1	UTSW	7	113766384	missense	probably damaging	0.98
R3747:Spon1	UTSW	7	114016791	missense	possibly damaging	0.77
R3749:Spon1	UTSW	7	113766384	missense	probably damaging	0.98
R3749:Spon1	UTSW	7	114016791	missense	possibly damaging	0.77
R3750:Spon1	UTSW	7	113766384	missense	probably damaging	0.98
R3750:Spon1	UTSW	7	114016791	missense	possibly damaging	0.77
R4666:Spon1	UTSW	7	114028969	missense	probably benign	0.20
R4730:Spon1	UTSW	7	114033071	missense	possibly damaging	0.92
R4774:Spon1	UTSW	7	114039867	missense	probably damaging	0.99
R5870:Spon1	UTSW	7	114031786	missense	probably damaging	1.00
R5914:Spon1	UTSW	7	114030821	missense	probably damaging	1.00
R6523:Spon1	UTSW	7	113886785	missense	probably benign	0.00
R7138:Spon1	UTSW	7	114036710	missense	probably damaging	1.00
R7295:Spon1	UTSW	7	114030240	missense	possibly damaging	0.85
R7844:Spon1	UTSW	7	114030332	missense	probably benign	0.01
R8064:Spon1	UTSW	7	114036621	missense	probably damaging	1.00
R8075:Spon1	UTSW	7	114016793	critical splice donor site	probably null
R8927:Spon1	UTSW	7	114030357	critical splice donor site	probably null
R8928:Spon1	UTSW	7	114030357	critical splice donor site	probably null
R9278:Spon1	UTSW	7	114028953	missense	probably damaging	1.00
Z1088:Spon1	UTSW	7	113766386	missense	possibly damaging	0.83
Z1176:Spon1	UTSW	7	113927794	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTACAGCCCTTCCCAAATG -3'
(R):5'- AGCTTCAGTACCAACTATGCAC -3'

Sequencing Primer
(F):5'- TGGTTTCTAGGAGAGCAGCACC -3'
(R):5'- CTATGCACCCTACTAGACAAGG -3'

Posted On

2017-02-10