Mutagenetix > Incidental Mutation

Incidental Mutation 'R7844:Spon1'

606508

Institutional Source

Beutler Lab

Gene Symbol

Spon1

Ensembl Gene

ENSMUSG00000038156

Gene Name

spondin 1, (f-spondin) extracellular matrix protein

Synonyms

FSP, D330035F22Rik

MMRRC Submission

045898-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R7844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113365235-113642605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113629567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 404 (V404I)

Ref Sequence

ENSEMBL: ENSMUSP00000041157 (fasta)

Gene Model

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

AlphaFold

Q8VCC9

Predicted Effect

probably benign
Transcript: ENSMUST00000046687
AA Change: V404I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: V404I

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,423 (GRCm39)	E65G	unknown	Het
Aadacl2fm2	A	T	3: 59,637,318 (GRCm39)	I27F	probably benign	Het
Abcg5	A	T	17: 84,981,018 (GRCm39)	N190K	possibly damaging	Het
Abhd6	A	C	14: 8,039,792 (GRCm38)	H55P	probably benign	Het
Acox3	A	T	5: 35,764,492 (GRCm39)	Q535L	probably benign	Het
Adora1	A	G	1: 134,131,276 (GRCm39)	W132R	probably damaging	Het
Armc3	A	G	2: 19,258,829 (GRCm39)	I299V	possibly damaging	Het
Atp11a	A	G	8: 12,901,039 (GRCm39)	D956G	possibly damaging	Het
Bptf	C	A	11: 106,964,887 (GRCm39)	V1436F	probably damaging	Het
Brd9	A	G	13: 74,086,652 (GRCm39)	Y51C	probably damaging	Het
Cdh18	T	C	15: 23,410,873 (GRCm39)	W453R	probably damaging	Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Col4a2	G	T	8: 11,475,453 (GRCm39)	E626*	probably null	Het
Dpp8	A	G	9: 64,952,949 (GRCm39)	I208M	probably damaging	Het
Evi5	T	C	5: 108,022,860 (GRCm39)	R16G	probably benign	Het
Gabrg1	T	C	5: 70,931,675 (GRCm39)	Y356C	probably damaging	Het
Gbp7	G	T	3: 142,242,147 (GRCm39)	V94L	probably benign	Het
Gm4884	A	C	7: 40,690,122 (GRCm39)	Q6P	probably benign	Het
Gm9767	A	T	10: 25,954,255 (GRCm39)		probably benign	Het
Gopc	T	C	10: 52,215,845 (GRCm39)	S448G	possibly damaging	Het
Gpr15	A	T	16: 58,538,873 (GRCm39)	I72N	probably damaging	Het
Hsd17b11	T	A	5: 104,166,132 (GRCm39)	T76S	probably damaging	Het
Inhbe	A	G	10: 127,186,779 (GRCm39)	S134P	possibly damaging	Het
Inpp4b	G	A	8: 82,467,949 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,322,062 (GRCm39)	V556A	probably benign	Het
Klhdc2	T	A	12: 69,349,180 (GRCm39)	F106I	probably damaging	Het
Krt7	G	A	15: 101,310,515 (GRCm39)	G54D	possibly damaging	Het
Mecom	T	G	3: 30,063,973 (GRCm39)	Y39S	unknown	Het
Mrpl49	C	T	19: 6,105,200 (GRCm39)	R87H	probably damaging	Het
Nfat5	A	G	8: 108,085,300 (GRCm39)	D531G	probably damaging	Het
Nlrp9a	A	T	7: 26,262,006 (GRCm39)	K718N	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or52d1	T	G	7: 103,755,690 (GRCm39)	L68W	probably damaging	Het
Pigu	A	C	2: 155,134,640 (GRCm39)	Y388*	probably null	Het
Pirb	A	T	7: 3,722,410 (GRCm39)	C144*	probably null	Het
Pkm	A	G	9: 59,578,005 (GRCm39)	H274R	probably benign	Het
Plch2	C	A	4: 155,073,922 (GRCm39)	D927Y	probably damaging	Het
Rock1	T	G	18: 10,104,173 (GRCm39)	K596Q	probably damaging	Het
Scaper	A	T	9: 55,722,732 (GRCm39)	M692K	probably benign	Het
Serpine1	C	A	5: 137,100,043 (GRCm39)	G39*	probably null	Het
Serpine2	T	C	1: 79,794,516 (GRCm39)	Q139R	probably benign	Het
Sipa1l1	C	A	12: 82,444,267 (GRCm39)	R993S	probably damaging	Het
Slc12a9	T	C	5: 137,330,448 (GRCm39)	T86A	probably damaging	Het
Slc30a6	G	A	17: 74,711,088 (GRCm39)		probably null	Het
Snrnp48	A	G	13: 38,393,965 (GRCm39)	E90G	probably null	Het
Spaca7b	A	T	8: 11,706,174 (GRCm39)	I120K	probably benign	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
Tada3	C	T	6: 113,347,921 (GRCm39)	R300H	probably benign	Het
Tcl1b5	G	A	12: 105,142,815 (GRCm39)		probably null	Het
Tdrd9	A	G	12: 111,964,386 (GRCm39)	Y336C	possibly damaging	Het
Timm44	A	G	8: 4,319,976 (GRCm39)	L64P	possibly damaging	Het
Tpo	A	G	12: 30,150,404 (GRCm39)	L492P	probably damaging	Het
Trip11	T	G	12: 101,844,403 (GRCm39)	Q1565P	probably damaging	Het
Trpm2	A	G	10: 77,759,340 (GRCm39)	I1148T	probably benign	Het
Tshz1	T	C	18: 84,032,296 (GRCm39)	E704G	probably benign	Het
Tysnd1	C	T	10: 61,537,944 (GRCm39)	R541*	probably null	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
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'- GGCATGCAAGGTCCTATTAGAG -3'
(R):5'- AAATCATTCATCTGATCCTGGCTTC -3'

Sequencing Primer
(F):5'- CATGCAAGGTCCTATTAGAGTTTTTG -3'
(R):5'- GATCCTGGCTTCTCTCTGAGTTG -3'

Posted On

2019-12-20