Mutagenetix > Incidental Mutations

Incidental Mutation 'R1832:Spon1'

204871

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

MMRRC Submission

039859-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114016785 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 295 (V295D)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably benign
Transcript: ENSMUST00000046687
AA Change: V295D

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: V295D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.7%

Validation Efficiency

100% (82/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,556,860	D143V	unknown	Het
Abca8a	A	T	11: 110,071,451	N525K	probably damaging	Het
Abhd12	T	A	2: 150,848,418	D119V	probably damaging	Het
Adamts20	A	T	15: 94,286,344	M1526K	probably benign	Het
AI481877	T	G	4: 59,066,441	I768L	probably benign	Het
Ankdd1a	A	T	9: 65,504,489		probably null	Het
Ankrd1	C	T	19: 36,114,978	C283Y	possibly damaging	Het
Arfgef1	G	C	1: 10,204,890	I312M	probably benign	Het
Bhlhe22	G	A	3: 18,054,975	C63Y	probably damaging	Het
Bmp8a	A	T	4: 123,325,092		probably benign	Het
Ccdc148	A	T	2: 59,001,899	S235T	probably damaging	Het
Ccdc88b	G	A	19: 6,853,532	Q681*	probably null	Het
Cep104	T	A	4: 154,002,546	V842E	probably benign	Het
Chac2	T	C	11: 30,977,568	N117S	probably benign	Het
Cldn8	T	A	16: 88,562,858	I60F	probably benign	Het
Col16a1	G	A	4: 130,077,057		probably null	Het
Col4a1	A	G	8: 11,214,644		probably benign	Het
Cyp2a4	G	T	7: 26,312,210	E285D	probably damaging	Het
Cyp4a31	G	A	4: 115,569,731	G176D	probably benign	Het
Dmxl2	A	C	9: 54,460,949	Y246D	probably damaging	Het
Dync1h1	A	G	12: 110,614,059	K118R	probably damaging	Het
Eif3h	T	C	15: 51,865,436	T8A	possibly damaging	Het
Fam71d	G	A	12: 78,715,506		probably benign	Het
Fbxo18	G	T	2: 11,767,400	L157I	probably benign	Het
Fbxo40	C	A	16: 36,968,856	G631*	probably null	Het
Gabrb1	T	A	5: 72,121,938		probably null	Het
Galc	A	G	12: 98,234,240		probably null	Het
Gm10436	T	C	12: 88,178,448	E44G	possibly damaging	Het
H2-Q7	C	A	17: 35,439,699	S104R	probably benign	Het
Igkv13-54-1	A	T	6: 69,617,293	M31L	probably benign	Het
Lamc2	C	T	1: 153,166,187	R67Q	possibly damaging	Het
Lcn10	A	G	2: 25,685,139	D173G	probably damaging	Het
Llgl2	G	T	11: 115,851,100	R656L	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc66	G	A	5: 73,607,426	S758L	possibly damaging	Het
Ly6d	T	C	15: 74,762,766	K46E	probably damaging	Het
Map3k5	A	G	10: 20,099,560	N88D	probably damaging	Het
Mertk	A	T	2: 128,762,212	E422V	probably benign	Het
Mixl1	A	G	1: 180,694,731	V195A	probably benign	Het
Nmnat3	T	C	9: 98,399,468	V41A	probably damaging	Het
Olfr13	A	G	6: 43,174,900	R305G	probably benign	Het
Olfr398	A	T	11: 73,984,493	N38K	probably damaging	Het
Olfr854	A	G	9: 19,567,196	Y63H	possibly damaging	Het
Pappa2	T	A	1: 158,857,316	E751V	probably damaging	Het
Pcsk2	A	G	2: 143,793,269	S355G	probably damaging	Het
Pdzd2	A	G	15: 12,390,048	V821A	probably damaging	Het
Pifo	C	T	3: 106,014,596	E4K	possibly damaging	Het
Plxna4	A	C	6: 32,197,826	D1109E	probably benign	Het
Ppard	A	G	17: 28,297,110	M103V	probably benign	Het
Ralgapa1	T	C	12: 55,757,967	T515A	probably benign	Het
Rin2	A	G	2: 145,861,171	I596V	possibly damaging	Het
Rnls	A	G	19: 33,168,495	S75P	possibly damaging	Het
Rsph10b	A	T	5: 143,967,179	Y236F	possibly damaging	Het
Runx1t1	C	T	4: 13,835,628		probably benign	Het
Sardh	A	G	2: 27,235,569	V311A	possibly damaging	Het
Sbno2	G	T	10: 80,060,605	Y889*	probably null	Het
Sclt1	A	G	3: 41,727,111	V91A	probably damaging	Het
Sema4g	T	A	19: 44,999,017	V534E	probably benign	Het
Slc10a1	G	A	12: 80,953,672	S351F	probably benign	Het
Slc19a3	A	T	1: 83,022,747	V183E	probably damaging	Het
Slc25a12	A	G	2: 71,333,710	Y74H	possibly damaging	Het
Slc6a19	T	A	13: 73,692,950	I114L	probably benign	Het
Smpd2	A	T	10: 41,488,236	C189S	probably benign	Het
Tet3	A	G	6: 83,403,645	S514P	probably benign	Het
Tnk1	T	C	11: 69,856,928	I49M	probably damaging	Het
Trim80	A	G	11: 115,446,793	T431A	probably benign	Het
Vgf	A	T	5: 137,031,299	Q105L	possibly damaging	Het
Vmn1r37	G	T	6: 66,731,796	L135F	probably benign	Het
Vps37d	C	T	5: 135,073,740	A128T	possibly damaging	Het
Wdr60	T	A	12: 116,207,743	S958C	probably damaging	Het
Wwp1	T	C	4: 19,650,197	D323G	probably benign	Het
Zfp456	T	A	13: 67,367,363	I75L	probably benign	Het
Zfp990	A	G	4: 145,538,210	I593V	possibly damaging	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
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
R5855:Spon1	UTSW	7	114029072	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'- AGTGGGATTATCCATAGCCAGAC -3'
(R):5'- AAGACAAGGTTTCCCACATGG -3'

Sequencing Primer
(F):5'- ACCTCCTAGTGTAGCTGGCATG -3'
(R):5'- ACATGGGCAATACTTCCTTGG -3'

Posted On

2014-06-23