Mutagenetix > Incidental Mutation

Incidental Mutation 'R7815:Sp7'

601490

Institutional Source

Beutler Lab

Gene Symbol

Sp7

Ensembl Gene

ENSMUSG00000060284

Gene Name

Sp7 transcription factor 7

Synonyms

Osx, osterix, 6430578P22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7815 (G1)

Quality Score

150.008

Status

Not validated

Chromosome

Chromosomal Location

102265038-102275498 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 102274822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078508] [ENSMUST00000229464]

AlphaFold

Q8VI67

Predicted Effect

probably benign
Transcript: ENSMUST00000078508

SMART Domains

Protein: ENSMUSP00000077596
Gene: ENSMUSG00000060284

Domain	Start	End	E-Value	Type
low complexity region	70	84	N/A	INTRINSIC
low complexity region	161	182	N/A	INTRINSIC
low complexity region	247	266	N/A	INTRINSIC
low complexity region	274	288	N/A	INTRINSIC
ZnF_C2H2	291	315	7.05e-1	SMART
ZnF_C2H2	321	345	3.69e-4	SMART
ZnF_C2H2	351	373	1.1e-2	SMART
low complexity region	374	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229464

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a reporter allele die within minutes of birth displaying cyanosis, respiratory distress, arrested osteoblast differentiation, and failure of endochondral and intramembranous bone formation. Mice homozygous for a knock-out allele exhibit failure of bone ossification. [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
Abcc2	A	G	19: 43,818,866 (GRCm39)	D1285G	probably benign	Het
Abcc9	A	G	6: 142,598,331 (GRCm39)	V669A	probably damaging	Het
Ajap1	C	A	4: 153,517,288 (GRCm39)	G18C	probably damaging	Het
Alms1	G	T	6: 85,592,340 (GRCm39)	M397I	probably benign	Het
Ampd2	A	T	3: 107,982,247 (GRCm39)	M794K	probably benign	Het
Ankrd35	A	T	3: 96,592,117 (GRCm39)	Q801L	probably damaging	Het
Casz1	A	T	4: 149,013,762 (GRCm39)	I109F	possibly damaging	Het
Ces5a	G	A	8: 94,247,623 (GRCm39)	S297F	possibly damaging	Het
Col7a1	A	G	9: 108,798,633 (GRCm39)	D1762G	probably damaging	Het
Dsp	A	T	13: 38,375,446 (GRCm39)	Y1077F	probably benign	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erbb4	A	G	1: 68,081,885 (GRCm39)	Y1050H	probably damaging	Het
Fpgt	A	T	3: 154,792,289 (GRCm39)	S579R	probably benign	Het
Gabra4	T	A	5: 71,815,152 (GRCm39)	M1L	possibly damaging	Het
Galk2	G	A	2: 125,817,321 (GRCm39)	S370N	probably damaging	Het
Gpr155	T	A	2: 73,192,904 (GRCm39)	T516S	probably benign	Het
Homez	T	C	14: 55,095,675 (GRCm39)	N11S	probably benign	Het
Hspg2	G	A	4: 137,239,775 (GRCm39)	G494D	probably damaging	Het
Htr3b	C	T	9: 48,856,833 (GRCm39)	R215Q	probably benign	Het
Igfbp4	A	G	11: 98,932,654 (GRCm39)	E111G	probably benign	Het
Igkv8-19	T	C	6: 70,318,420 (GRCm39)	T5A	probably benign	Het
Insrr	A	G	3: 87,716,002 (GRCm39)	K566E	probably damaging	Het
Iqsec3	A	G	6: 121,450,317 (GRCm39)	V69A	probably benign	Het
Kdm5d	T	C	Y: 940,702 (GRCm39)	V1071A	probably damaging	Het
Kif28	A	G	1: 179,563,548 (GRCm39)	C143R	probably damaging	Het
Kpna6	T	C	4: 129,551,590 (GRCm39)	M65V	probably benign	Het
L3mbtl3	T	C	10: 26,156,276 (GRCm39)	S669G	unknown	Het
Man1a2	A	T	3: 100,563,495 (GRCm39)	I50N	probably damaging	Het
Map3k11	A	T	19: 5,745,667 (GRCm39)	M356L	possibly damaging	Het
Meioc	A	T	11: 102,566,414 (GRCm39)	N677Y	probably damaging	Het
Myom3	A	T	4: 135,528,674 (GRCm39)	K1108M	possibly damaging	Het
Nav1	C	T	1: 135,512,377 (GRCm39)	E228K	possibly damaging	Het
Ncapd3	G	A	9: 26,974,736 (GRCm39)	W736*	probably null	Het
Nfkb1	T	C	3: 135,309,552 (GRCm39)	D514G	probably damaging	Het
Nnt	T	A	13: 119,494,111 (GRCm39)	T657S	possibly damaging	Het
Or4k5	A	G	14: 50,386,253 (GRCm39)	F26S	probably benign	Het
Or51b4	A	G	7: 103,530,992 (GRCm39)	S153P	probably benign	Het
Oser1	A	T	2: 163,253,336 (GRCm39)	S58T	possibly damaging	Het
Pcdha5	T	A	18: 37,094,556 (GRCm39)	I355N	possibly damaging	Het
Pllp	C	G	8: 95,402,804 (GRCm39)	G99A	probably damaging	Het
Pram1	A	G	17: 33,861,106 (GRCm39)	N509S	probably benign	Het
Prkd1	A	C	12: 50,472,300 (GRCm39)	N204K	probably damaging	Het
Prss23	G	A	7: 89,159,253 (GRCm39)	P272L	probably damaging	Het
Pxdn	T	C	12: 30,055,824 (GRCm39)	F1057L	probably damaging	Het
Rapgef5	T	A	12: 117,719,702 (GRCm39)	S777R	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rfx3	A	T	19: 27,803,448 (GRCm39)	M265K	probably benign	Het
S100a7a	C	A	3: 90,565,119 (GRCm39)	H105N	probably benign	Het
Serpinb3b	T	C	1: 107,084,625 (GRCm39)	D132G	probably damaging	Het
Tacstd2	A	G	6: 67,512,140 (GRCm39)	F184S	possibly damaging	Het
Trdc	C	A	14: 54,381,259 (GRCm39)		probably benign	Het
Trpa1	T	A	1: 14,974,486 (GRCm39)	H232L	probably benign	Het
Trpc3	G	T	3: 36,709,294 (GRCm39)	T394K	probably benign	Het
Tuba3b	G	A	6: 145,566,847 (GRCm39)	V363I	possibly damaging	Het
Tubb2a	C	A	13: 34,258,962 (GRCm39)	R276L	probably benign	Het
Ubap2l	A	T	3: 89,951,071 (GRCm39)	L72*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Wdr26	A	G	1: 181,036,638 (GRCm39)	V166A	probably benign	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Xirp2	G	A	2: 67,339,756 (GRCm39)	G666R	probably damaging	Het
Zfp131	T	C	13: 120,237,516 (GRCm39)	K247E	probably damaging	Het

Other mutations in Sp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Sp7	APN	15	102,267,086 (GRCm39)	missense	probably benign	0.04
IGL01412:Sp7	APN	15	102,267,798 (GRCm39)	missense	possibly damaging	0.66
IGL02043:Sp7	APN	15	102,267,690 (GRCm39)	missense	probably benign	0.01
IGL02341:Sp7	APN	15	102,267,657 (GRCm39)	missense	possibly damaging	0.66
R0126:Sp7	UTSW	15	102,266,895 (GRCm39)	missense	probably damaging	0.99
R1898:Sp7	UTSW	15	102,267,453 (GRCm39)	missense	possibly damaging	0.92
R4250:Sp7	UTSW	15	102,267,327 (GRCm39)	missense	possibly damaging	0.66
R4434:Sp7	UTSW	15	102,267,536 (GRCm39)	missense	probably damaging	0.97
R5472:Sp7	UTSW	15	102,267,749 (GRCm39)	missense	probably benign	0.15
R5563:Sp7	UTSW	15	102,267,755 (GRCm39)	missense	possibly damaging	0.90
R7532:Sp7	UTSW	15	102,267,584 (GRCm39)	missense	possibly damaging	0.53
R7840:Sp7	UTSW	15	102,267,533 (GRCm39)	missense	probably benign	0.40
R8493:Sp7	UTSW	15	102,266,837 (GRCm39)	missense	possibly damaging	0.93
R8821:Sp7	UTSW	15	102,267,227 (GRCm39)	missense	possibly damaging	0.53
R8962:Sp7	UTSW	15	102,274,880 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGAACAGTTACCTCAAGCAG -3'
(R):5'- AAGCTCTGACAACTTGCCC -3'

Sequencing Primer
(F):5'- TCAAGCAGAGAGGACGCCATC -3'
(R):5'- AAGCTCTGACAACTTGCCCATATTC -3'

Posted On

2019-12-03