Mutagenetix > Incidental Mutation

Incidental Mutation 'R9505:Spon1'

717777

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

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R9505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113365235-113642605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113632311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 545 (T545A)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000046687
AA Change: T545A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: T545A

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: 99.7%
20x: 99.2%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,185,782 (GRCm39)		probably benign	Het
Adamts17	A	C	7: 66,774,683 (GRCm39)	N961T	probably benign	Het
Adamts3	G	A	5: 89,855,751 (GRCm39)	T373I	probably damaging	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bicd1	A	C	6: 149,385,522 (GRCm39)	E85A	probably benign	Het
Brca1	G	T	11: 101,403,592 (GRCm39)	H1437N	probably benign	Het
Camk2n1	T	C	4: 138,182,567 (GRCm39)	I24T	possibly damaging	Het
Ces2f	T	A	8: 105,676,669 (GRCm39)	M121K	probably benign	Het
Cfap299	A	G	5: 98,477,213 (GRCm39)	M1V	probably null	Het
CN725425	T	A	15: 91,124,867 (GRCm39)	Y136N	possibly damaging	Het
Ctla2a	T	A	13: 61,084,342 (GRCm39)	M2L	unknown	Het
Cyp3a57	A	T	5: 145,286,139 (GRCm39)	Y25F	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Dnah3	A	T	7: 119,644,912 (GRCm39)	I1123N	probably damaging	Het
Fcgbpl1	A	T	7: 27,841,909 (GRCm39)	K615*	probably null	Het
Fkbp10	G	T	11: 100,306,826 (GRCm39)	E73*	probably null	Het
Flnb	C	A	14: 7,904,665 (GRCm38)	H1023N	probably benign	Het
Gapvd1	T	A	2: 34,613,026 (GRCm39)	Q312H		Het
Garre1	A	T	7: 33,984,371 (GRCm39)	L84Q	probably damaging	Het
Htr1d	A	T	4: 136,170,889 (GRCm39)	I373F	probably benign	Het
Inhba	G	A	13: 16,201,356 (GRCm39)	R306H	probably damaging	Het
Inka1	T	A	9: 107,862,092 (GRCm39)	K75*	probably null	Het
Iqcg	A	T	16: 32,861,247 (GRCm39)	D156E	probably benign	Het
Ireb2	C	A	9: 54,813,921 (GRCm39)	T798K	probably damaging	Het
Klk1b8	G	A	7: 43,451,605 (GRCm39)	A199T	probably damaging	Het
Lgi2	T	C	5: 52,711,775 (GRCm39)	T182A	probably benign	Het
Ltbp2	C	A	12: 84,900,638 (GRCm39)	R228L	probably damaging	Het
Lyrm1	A	G	7: 119,509,090 (GRCm39)	K22E	possibly damaging	Het
Mybbp1a	A	G	11: 72,339,897 (GRCm39)	D967G	probably benign	Het
Nr6a1	C	T	2: 38,630,485 (GRCm39)	R259Q	probably benign	Het
Or4e2	A	G	14: 52,687,929 (GRCm39)	N20D	probably benign	Het
Or51aa5	T	C	7: 103,167,446 (GRCm39)	I48M	probably benign	Het
Or51i1	C	A	7: 103,670,698 (GRCm39)	V276F	probably damaging	Het
Pak5	A	T	2: 135,958,812 (GRCm39)	I92N	probably damaging	Het
Pcdhb5	T	A	18: 37,454,664 (GRCm39)	I348K	possibly damaging	Het
Phf2	C	T	13: 48,957,134 (GRCm39)	A1078T	probably damaging	Het
Rnf103	T	C	6: 71,487,049 (GRCm39)	V560A	probably benign	Het
Slc27a4	A	G	2: 29,701,608 (GRCm39)	I409V	probably benign	Het
Spata18	T	A	5: 73,809,017 (GRCm39)		probably null	Het
Stab1	A	G	14: 30,877,722 (GRCm39)	S772P	probably damaging	Het
Stox2	A	T	8: 47,645,304 (GRCm39)	S719T	probably benign	Het
Syne1	A	G	10: 4,980,394 (GRCm39)	V864A	probably benign	Het
Syngap1	A	G	17: 27,180,579 (GRCm39)	S836G	probably benign	Het
Tiparp	G	T	3: 65,439,577 (GRCm39)	E298*	probably null	Het
Tmem52	A	G	4: 155,554,615 (GRCm39)	T114A	probably damaging	Het
Trim36	C	A	18: 46,329,281 (GRCm39)	C53F	probably damaging	Het
Ttn	T	C	2: 76,720,811 (GRCm39)	K6871R	unknown	Het
Ttn	C	A	2: 76,715,468 (GRCm39)		probably null	Het
Ube2d1	T	C	10: 71,098,094 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,824 (GRCm39)	T676A	probably benign	Het
Vinac1	A	T	2: 128,878,838 (GRCm39)	D1029E	unknown	Het
Vps13a	A	T	19: 16,719,908 (GRCm39)	Y417N	possibly damaging	Het
Zfp729a	C	T	13: 67,767,673 (GRCm39)	C852Y	probably damaging	Het

Other mutations in Spon1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Spon1	APN	7	113,633,525 (GRCm39)	missense	probably damaging	1.00
IGL02385:Spon1	APN	7	113,365,567 (GRCm39)	start codon destroyed	probably null	0.56
IGL02496:Spon1	APN	7	113,635,897 (GRCm39)	missense	probably benign	0.00
IGL02562:Spon1	APN	7	113,635,996 (GRCm39)	missense	probably benign	0.12
IGL03063:Spon1	APN	7	113,632,260 (GRCm39)	missense	possibly damaging	0.85
IGL03153:Spon1	APN	7	113,629,579 (GRCm39)	missense	probably damaging	1.00
IGL03392:Spon1	APN	7	113,633,522 (GRCm39)	missense	probably damaging	0.99
Rust	UTSW	7	113,616,024 (GRCm39)	missense	possibly damaging	0.77
Wilt	UTSW	7	113,365,621 (GRCm39)	missense	probably damaging	0.98
R0512:Spon1	UTSW	7	113,436,066 (GRCm39)	missense	possibly damaging	0.59
R0646:Spon1	UTSW	7	113,639,056 (GRCm39)	missense	probably benign	0.04
R1194:Spon1	UTSW	7	113,486,031 (GRCm39)	missense	probably benign
R1832:Spon1	UTSW	7	113,616,018 (GRCm39)	missense	probably benign	0.26
R2391:Spon1	UTSW	7	113,486,080 (GRCm39)	missense	probably damaging	1.00
R3747:Spon1	UTSW	7	113,616,024 (GRCm39)	missense	possibly damaging	0.77
R3747:Spon1	UTSW	7	113,365,621 (GRCm39)	missense	probably damaging	0.98
R3749:Spon1	UTSW	7	113,616,024 (GRCm39)	missense	possibly damaging	0.77
R3749:Spon1	UTSW	7	113,365,621 (GRCm39)	missense	probably damaging	0.98
R3750:Spon1	UTSW	7	113,616,024 (GRCm39)	missense	possibly damaging	0.77
R3750:Spon1	UTSW	7	113,365,621 (GRCm39)	missense	probably damaging	0.98
R4666:Spon1	UTSW	7	113,628,204 (GRCm39)	missense	probably benign	0.20
R4730:Spon1	UTSW	7	113,632,306 (GRCm39)	missense	possibly damaging	0.92
R4774:Spon1	UTSW	7	113,639,102 (GRCm39)	missense	probably damaging	0.99
R5855:Spon1	UTSW	7	113,628,307 (GRCm39)	missense	probably damaging	0.99
R5870:Spon1	UTSW	7	113,631,021 (GRCm39)	missense	probably damaging	1.00
R5914:Spon1	UTSW	7	113,630,056 (GRCm39)	missense	probably damaging	1.00
R6523:Spon1	UTSW	7	113,486,018 (GRCm39)	missense	probably benign	0.00
R7138:Spon1	UTSW	7	113,635,945 (GRCm39)	missense	probably damaging	1.00
R7295:Spon1	UTSW	7	113,629,475 (GRCm39)	missense	possibly damaging	0.85
R7844:Spon1	UTSW	7	113,629,567 (GRCm39)	missense	probably benign	0.01
R8064:Spon1	UTSW	7	113,635,856 (GRCm39)	missense	probably damaging	1.00
R8075:Spon1	UTSW	7	113,616,026 (GRCm39)	critical splice donor site	probably null
R8927:Spon1	UTSW	7	113,629,592 (GRCm39)	critical splice donor site	probably null
R8928:Spon1	UTSW	7	113,629,592 (GRCm39)	critical splice donor site	probably null
R9278:Spon1	UTSW	7	113,628,188 (GRCm39)	missense	probably damaging	1.00
R9711:Spon1	UTSW	7	113,387,685 (GRCm39)	missense	probably damaging	0.98
Z1088:Spon1	UTSW	7	113,365,623 (GRCm39)	missense	possibly damaging	0.83
Z1176:Spon1	UTSW	7	113,527,027 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCCAGAGTCAGAGTTCTC -3'
(R):5'- TTCATACCCATCCCACAGGTG -3'

Sequencing Primer
(F):5'- CAGAGTCAGAGTTCTCTTATACCGAC -3'
(R):5'- ACAGGTGGCACTGCAGTC -3'

Posted On

2022-07-18