Mutagenetix > Incidental Mutation

Incidental Mutation 'R4730:Spon1'

358761

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

MMRRC Submission

041990-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R4730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113365235-113642605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113632306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 543 (E543G)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046687
AA Change: E543G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: E543G

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

0.1856

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (70/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	A	G	5: 103,990,939 (GRCm39)	Q963R	possibly damaging	Het
Arhgef28	C	T	13: 98,114,650 (GRCm39)	E645K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Col4a2	A	G	8: 11,487,590 (GRCm39)	N964S	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Duox1	T	G	2: 122,164,312 (GRCm39)	L924R	probably damaging	Het
Edem2	T	C	2: 155,547,618 (GRCm39)	E398G	possibly damaging	Het
Engase	A	G	11: 118,373,748 (GRCm39)	N297D	probably damaging	Het
Esp4	A	C	17: 40,913,445 (GRCm39)	Y104S	unknown	Het
Esp4	C	A	17: 40,913,446 (GRCm39)	Y104*	probably null	Het
Fat1	A	T	8: 45,486,514 (GRCm39)	N3356I	probably damaging	Het
Gm3867	T	A	9: 36,168,550 (GRCm39)		noncoding transcript	Het
Gm6818	C	T	7: 38,101,918 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,762,693 (GRCm39)	*175W	probably null	Het
Gucy1b2	A	G	14: 62,645,208 (GRCm39)	V617A	probably damaging	Het
Gzmc	C	T	14: 56,469,089 (GRCm39)	C210Y	probably damaging	Het
Hmg20a	T	A	9: 56,374,703 (GRCm39)	S20T	possibly damaging	Het
Hs3st1	A	T	5: 39,772,148 (GRCm39)	L165*	probably null	Het
Ighv1-26	A	G	12: 114,752,409 (GRCm39)	I6T	probably benign	Het
Kcnk13	A	G	12: 100,027,974 (GRCm39)	K350E	probably damaging	Het
Lin9	T	A	1: 180,493,416 (GRCm39)	L198*	probably null	Het
Lrfn5	C	T	12: 61,887,505 (GRCm39)	A431V	probably benign	Het
Lta	C	T	17: 35,423,065 (GRCm39)	R86Q	probably benign	Het
Map3k4	T	A	17: 12,467,861 (GRCm39)	I1058L	probably damaging	Het
Mtif2	T	A	11: 29,490,834 (GRCm39)	S513T	probably benign	Het
Muc4	C	T	16: 32,570,032 (GRCm39)	T364I	possibly damaging	Het
Nav1	C	A	1: 135,535,049 (GRCm39)		probably benign	Het
Nfrkb	T	C	9: 31,321,547 (GRCm39)	V748A	probably benign	Het
Obox6	A	T	7: 15,568,738 (GRCm39)	M46K	possibly damaging	Het
Or5g25	T	C	2: 85,478,336 (GRCm39)	T110A	probably benign	Het
Or5k1b	T	C	16: 58,581,105 (GRCm39)	I145V	probably benign	Het
Or5t17	C	T	2: 86,832,510 (GRCm39)	R66W	possibly damaging	Het
Or6c33	G	A	10: 129,853,416 (GRCm39)	R62Q	probably damaging	Het
Or9g19	G	T	2: 85,600,405 (GRCm39)	E87*	probably null	Het
P4htm	A	G	9: 108,456,971 (GRCm39)	V412A	possibly damaging	Het
Phb2	T	C	6: 124,690,086 (GRCm39)	S92P	probably damaging	Het
Phtf1	G	T	3: 103,894,751 (GRCm39)	R147L	probably damaging	Het
Pigk	C	T	3: 152,448,203 (GRCm39)	Q189*	probably null	Het
Plxnc1	G	A	10: 94,703,330 (GRCm39)		probably benign	Het
Prrx1	A	G	1: 163,140,182 (GRCm39)	V8A	probably benign	Het
Ptprg	G	A	14: 12,213,713 (GRCm38)	G252D	probably damaging	Het
Rnf4	G	T	5: 34,508,147 (GRCm39)	V134F	possibly damaging	Het
Scarf2	A	G	16: 17,620,877 (GRCm39)	T182A	probably damaging	Het
Setd1a	A	G	7: 127,396,502 (GRCm39)		probably benign	Het
Sgpp1	A	G	12: 75,781,713 (GRCm39)	F209L	probably benign	Het
Sh3d19	T	A	3: 86,024,171 (GRCm39)	S567T	possibly damaging	Het
Slc4a2	C	T	5: 24,639,878 (GRCm39)	R520W	probably damaging	Het
Slf1	T	C	13: 77,194,751 (GRCm39)	Q858R	probably damaging	Het
Slitrk3	G	T	3: 72,956,852 (GRCm39)	A640E	probably benign	Het
Smarca2	A	G	19: 26,608,073 (GRCm39)	Y44C	probably damaging	Het
Strn4	A	G	7: 16,562,719 (GRCm39)	Q286R	possibly damaging	Het
Suz12	T	C	11: 79,892,988 (GRCm39)		probably benign	Het
Syna	T	A	5: 134,587,440 (GRCm39)	E503V	probably damaging	Het
Syt14	C	T	1: 192,613,094 (GRCm39)	D569N	probably damaging	Het
Sytl2	A	G	7: 90,030,457 (GRCm39)		probably benign	Het
Tmprss11g	G	T	5: 86,637,091 (GRCm39)	S335*	probably null	Het
Tmprss11g	A	T	5: 86,637,092 (GRCm39)	S335T	probably damaging	Het
Trim66	A	G	7: 109,082,276 (GRCm39)	S226P	probably damaging	Het
Tubgcp3	T	C	8: 12,707,654 (GRCm39)	T112A	probably benign	Het
Ulk4	T	C	9: 121,092,791 (GRCm39)	S149G	probably benign	Het
Usp53	T	C	3: 122,756,582 (GRCm39)	D108G	probably null	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly 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
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
R9505:Spon1	UTSW	7	113,632,311 (GRCm39)	missense	probably damaging	0.98
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'- TCATACCCATCCCACAGGTG -3'

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

Posted On

2015-11-11