Mutagenetix > Incidental Mutations

Incidental Mutation 'R3747:Spon1'

309859

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

Accession Numbers

Is this an essential gene?

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

Stock #

R3747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113766384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 19 (L19P)

Ref Sequence

ENSEMBL: ENSMUSP00000081746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046687] [ENSMUST00000084696]

AlphaFold

Q8VCC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000046687
AA Change: L19P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: L19P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084696
AA Change: L19P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081746
Gene: ENSMUSG00000038156
AA Change: L19P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Reeler	43	173	1.5e-35	PFAM
Pfam:Spond_N	204	281	1.3e-31	PFAM

Meta Mutation Damage Score

0.1045

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 76,888,654	E347*	probably null	Het
Abhd18	A	G	3: 40,933,573	N284S	probably benign	Het
Adam12	T	C	7: 134,172,865	D5G	probably damaging	Het
Adam26b	A	C	8: 43,521,197	V256G	probably benign	Het
Aga	T	A	8: 53,517,821	I192N	probably benign	Het
Ago1	A	G	4: 126,461,044	I125T	probably benign	Het
Alk	A	G	17: 71,911,565	S762P	probably damaging	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Cby3	T	C	11: 50,359,674	*236R	probably null	Het
Cfhr1	C	A	1: 139,557,634		probably null	Het
Clcn1	T	A	6: 42,299,915	Y393N	probably damaging	Het
Cx3cr1	T	C	9: 120,052,066	H90R	probably damaging	Het
Cyp3a16	T	A	5: 145,442,071	K380M	probably damaging	Het
Cyp4v3	G	A	8: 45,315,708	R272*	probably null	Het
Dazap1	C	T	10: 80,287,664	R391C	possibly damaging	Het
Dgkh	T	A	14: 78,584,445	E876V	probably damaging	Het
Dnah8	A	T	17: 30,784,174	K3616*	probably null	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Fam221a	A	G	6: 49,372,696	D2G	probably damaging	Het
Fam43a	C	T	16: 30,601,846	T416I	probably benign	Het
Fam71a	T	G	1: 191,164,010	Q145H	probably damaging	Het
Fam90a1a	C	A	8: 21,963,205	S192*	probably null	Het
Foxd1	G	C	13: 98,355,916	A433P	unknown	Het
Gm10152	G	A	7: 144,763,200		probably null	Het
Gm12800	T	A	4: 101,909,876	D107E	possibly damaging	Het
Hipk3	T	A	2: 104,441,283	R435*	probably null	Het
Hnrnpab	T	A	11: 51,602,646	Y245F	probably benign	Het
Islr2	A	T	9: 58,199,642	S112T	probably benign	Het
Itgb7	A	T	15: 102,222,777	V280D	probably damaging	Het
Kndc1	G	A	7: 139,927,904		probably null	Het
Lrba	T	G	3: 86,375,953	L1858R	probably damaging	Het
Mroh2b	G	A	15: 4,952,246	W1513*	probably null	Het
Nbeal1	A	G	1: 60,195,023	D51G	probably damaging	Het
Ncoa6	G	A	2: 155,411,641	P939L	probably benign	Het
Ndst3	A	G	3: 123,671,552	I257T	probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,081,356		probably benign	Het
Nuf2	T	A	1: 169,525,376	N20I	probably damaging	Het
Osbpl7	T	C	11: 97,056,053	V223A	probably damaging	Het
Pcm1	T	C	8: 41,332,004	I2064T	probably benign	Het
Pkd1	A	G	17: 24,591,461	R90G	possibly damaging	Het
Pkdrej	T	A	15: 85,821,077	K219N	probably damaging	Het
Ppil4	A	T	10: 7,814,693	Q370L	probably benign	Het
Primpol	A	T	8: 46,599,813	D154E	probably benign	Het
Rb1cc1	T	G	1: 6,248,742	V778G	possibly damaging	Het
Sgms1	A	T	19: 32,159,594	S191T	possibly damaging	Het
Sned1	T	A	1: 93,261,751	F303Y	probably damaging	Het
Sp9	T	A	2: 73,274,308	M402K	probably damaging	Het
Tlr5	T	C	1: 182,974,439	I436T	probably benign	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Tpcn2	T	C	7: 145,255,523	H682R	probably damaging	Het
Ugt1a6a	T	C	1: 88,139,149	Y226H	probably damaging	Het
Upf1	G	T	8: 70,333,350	N975K	possibly damaging	Het
Ush2a	G	A	1: 188,810,292	G3352S	probably benign	Het
Vmn1r39	T	C	6: 66,804,870	N155D	probably benign	Het
Vwa5b2	A	G	16: 20,598,326		probably benign	Het
Yipf4	G	A	17: 74,496,672		probably null	Het
Zdhhc17	T	C	10: 110,944,420	I624M	probably benign	Het
Zfhx4	G	A	3: 5,243,165	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,212,047	P1069S	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
R1832:Spon1	UTSW	7	114016785	missense	probably benign	0.26
R2391:Spon1	UTSW	7	113886847	missense	probably damaging	1.00
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'- TGGGAATCCAGCTTCACAAAAC -3'
(R):5'- AGCTGCTTCCTGGCTTATAG -3'

Sequencing Primer
(F):5'- ATCCGGGCGCAAATCAG -3'
(R):5'- TATAGAAGTCAGGGTCGCCTTCC -3'

Posted On

2015-04-17