Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R3747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113365235-113642605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113365621 bp (GRCm39)

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: 77,036,501 (GRCm39)	E347*	probably null	Het
Abhd18	A	G	3: 40,888,008 (GRCm39)	N284S	probably benign	Het
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Aga	T	A	8: 53,970,856 (GRCm39)	I192N	probably benign	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Alk	A	G	17: 72,218,560 (GRCm39)	S762P	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cby3	T	C	11: 50,250,501 (GRCm39)	*236R	probably null	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,276,849 (GRCm39)	Y393N	probably damaging	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Cyp3a16	T	A	5: 145,378,881 (GRCm39)	K380M	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Dazap1	C	T	10: 80,123,498 (GRCm39)	R391C	possibly damaging	Het
Dgkh	T	A	14: 78,821,885 (GRCm39)	E876V	probably damaging	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fam221a	A	G	6: 49,349,630 (GRCm39)	D2G	probably damaging	Het
Fam43a	C	T	16: 30,420,664 (GRCm39)	T416I	probably benign	Het
Fam90a1a	C	A	8: 22,453,221 (GRCm39)	S192*	probably null	Het
Foxd1	G	C	13: 98,492,424 (GRCm39)	A433P	unknown	Het
Garin4	T	G	1: 190,896,207 (GRCm39)	Q145H	probably damaging	Het
Gm10152	G	A	7: 144,316,937 (GRCm39)		probably null	Het
Hipk3	T	A	2: 104,271,628 (GRCm39)	R435*	probably null	Het
Hnrnpab	T	A	11: 51,493,473 (GRCm39)	Y245F	probably benign	Het
Islr2	A	T	9: 58,106,925 (GRCm39)	S112T	probably benign	Het
Itgb7	A	T	15: 102,131,212 (GRCm39)	V280D	probably damaging	Het
Kndc1	G	A	7: 139,507,817 (GRCm39)		probably null	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nbeal1	A	G	1: 60,234,182 (GRCm39)	D51G	probably damaging	Het
Ncoa6	G	A	2: 155,253,561 (GRCm39)	P939L	probably benign	Het
Ndst3	A	G	3: 123,465,201 (GRCm39)	I257T	probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,795 (GRCm39)		probably benign	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Pcm1	T	C	8: 41,785,041 (GRCm39)	I2064T	probably benign	Het
Pkd1	A	G	17: 24,810,435 (GRCm39)	R90G	possibly damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Ppil4	A	T	10: 7,690,457 (GRCm39)	Q370L	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Rb1cc1	T	G	1: 6,318,966 (GRCm39)	V778G	possibly damaging	Het
Sgms1	A	T	19: 32,136,994 (GRCm39)	S191T	possibly damaging	Het
Sned1	T	A	1: 93,189,473 (GRCm39)	F303Y	probably damaging	Het
Sp9	T	A	2: 73,104,652 (GRCm39)	M402K	probably damaging	Het
Tlr5	T	C	1: 182,802,004 (GRCm39)	I436T	probably benign	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,871 (GRCm39)	Y226H	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r39	T	C	6: 66,781,854 (GRCm39)	N155D	probably benign	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Yipf4	G	A	17: 74,803,667 (GRCm39)		probably null	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	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
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
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'- TGGGAATCCAGCTTCACAAAAC -3'
(R):5'- AGCTGCTTCCTGGCTTATAG -3'

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

Posted On

2015-04-17