Mutagenetix > Incidental Mutations

Incidental Mutation 'R7295:Spon1'

566675

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113765998-114043370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114030240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 373 (Q373L)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046687
AA Change: Q373L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: Q373L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	T	2: 155,045,758	D46V	probably damaging	Het
Acp7	A	T	7: 28,629,530	F75Y	possibly damaging	Het
Adamts19	T	A	18: 58,837,883	Y180N	probably damaging	Het
Adck1	G	T	12: 88,431,045	D150Y	probably damaging	Het
Alb	T	A	5: 90,462,834		probably null	Het
Baat	A	T	4: 49,490,275	Y270N	probably damaging	Het
Bmp7	A	T	2: 172,939,897	I58N	probably damaging	Het
Bpifb9a	C	T	2: 154,267,696	T504M	probably damaging	Het
Cbfa2t3	T	G	8: 122,638,029	D338A	probably benign	Het
Ccnd2	A	T	6: 127,148,762	C104S	possibly damaging	Het
Clip1	G	T	5: 123,627,356	Q713K	probably benign	Het
Ddx28	G	A	8: 106,010,844	S194L	probably benign	Het
Dync1h1	T	C	12: 110,664,749		probably null	Het
Edil3	T	A	13: 89,131,783	Y193*	probably null	Het
Eprs	A	G	1: 185,418,210		probably null	Het
Ercc6l2	T	G	13: 63,819,775	I63R	probably damaging	Het
Fam171a2	T	C	11: 102,438,238	E565G	possibly damaging	Het
Fbn1	T	A	2: 125,335,487	D1810V	probably damaging	Het
Foxj2	T	C	6: 122,840,231	S506P	probably benign	Het
Frmpd1	A	G	4: 45,285,700	E1507G	probably damaging	Het
Gfm1	G	A	3: 67,440,181	V258I	probably benign	Het
Gm9573	G	A	17: 35,618,869	A1475V	unknown	Het
Gphn	T	C	12: 78,492,102	V174A	probably benign	Het
Gtpbp3	C	A	8: 71,489,495	S123R	possibly damaging	Het
Hbs1l	T	C	10: 21,310,152	V491A	probably benign	Het
Hist1h2bg	T	C	13: 23,571,769	S113P	probably benign	Het
Hoxc12	A	G	15: 102,938,375	N234S	probably damaging	Het
Iltifb	A	T	10: 118,294,943	L16*	probably null	Het
Kcnj5	T	C	9: 32,322,791	D76G	probably damaging	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Lonp1	G	T	17: 56,622,495	Q181K	possibly damaging	Het
Mgst1	A	T	6: 138,147,756	I23F	probably benign	Het
Myocos	T	C	1: 162,657,118	R41G	unknown	Het
Myod1	A	G	7: 46,378,219	D261G	probably benign	Het
Nop14	C	T	5: 34,639,032	R781Q	probably damaging	Het
Nsmaf	A	G	4: 6,438,083	V63A	probably benign	Het
Ntsr1	A	T	2: 180,500,932	H172L	probably damaging	Het
Olfr731	T	C	14: 50,238,616	K90E	probably damaging	Het
Olfr905	A	T	9: 38,473,443	E232V	probably benign	Het
Pcdha11	T	C	18: 37,006,926	V536A	probably damaging	Het
Pcdha6	T	A	18: 36,968,136	N127K	probably damaging	Het
Prps1l1	T	A	12: 34,985,680	C265S	probably benign	Het
Prune2	A	G	19: 17,119,897	S922G	probably benign	Het
Qpctl	A	T	7: 19,149,130	M19K	probably benign	Het
Rad51	C	T	2: 119,134,118	T230I	possibly damaging	Het
Rad9b	A	G	5: 122,334,278	F246L	possibly damaging	Het
Rarb	A	T	14: 16,508,932		probably null	Het
Sdcbp2	T	C	2: 151,587,401	S214P	possibly damaging	Het
Slc22a1	T	A	17: 12,657,005	M441L	probably benign	Het
Slc35f1	G	A	10: 53,062,541	V190I	probably benign	Het
Ssbp2	T	A	13: 91,694,003		probably null	Het
Sult1e1	T	A	5: 87,578,653	R201*	probably null	Het
Traj32	T	A	14: 54,186,149	L16Q		Het
Ttc16	T	C	2: 32,774,425	I67V	probably null	Het
Ttn	T	A	2: 76,726,555	K30035N	probably damaging	Het
Ttn	T	A	2: 76,946,129	Y1607F	unknown	Het
Usp16	G	A	16: 87,472,089	R290H	probably benign	Het
Utp3	G	C	5: 88,554,517		probably benign	Het
Xpnpep3	A	G	15: 81,414,534	H56R	probably damaging	Het
Zfp592	G	T	7: 81,024,322	D345Y	probably damaging	Het
Zfp931	A	T	2: 178,068,031	Y187*	probably null	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
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
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'- AAGGCTCCATGTTTGATGCCC -3'
(R):5'- TTTTATGCTTGGGCCCTCAG -3'

Sequencing Primer
(F):5'- CCATGTTTGATGCCCAGAAC -3'
(R):5'- TCAGGAGGCCCAGAAATCC -3'

Posted On

2019-06-26