Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01412:Sp7'

80087

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01412

Quality Score

Status

Chromosome

Chromosomal Location

102265038-102275498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102267798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 3 (T3A)

Ref Sequence

ENSEMBL: ENSMUSP00000154859 (fasta)

Gene Model

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

AlphaFold

Q8VI67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078508
AA Change: T21A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077596
Gene: ENSMUSG00000060284
AA Change: T21A

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

possibly damaging
Transcript: ENSMUST00000229464
AA Change: T3A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229977

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	A	15: 12,815,958 (GRCm39)	Q222*	probably null	Het
Adamts2	A	G	11: 50,686,230 (GRCm39)	E1016G	probably benign	Het
Agmo	G	A	12: 37,452,140 (GRCm39)	E269K	possibly damaging	Het
Agrn	A	T	4: 156,255,491 (GRCm39)		probably benign	Het
Alpk1	A	T	3: 127,473,621 (GRCm39)	L794Q	possibly damaging	Het
Asb14	T	A	14: 26,637,022 (GRCm39)	L588H	probably damaging	Het
Btbd16	A	T	7: 130,407,549 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,610,924 (GRCm39)	K625E	probably benign	Het
Cdh23	T	C	10: 60,150,473 (GRCm39)	D2499G	probably damaging	Het
Cdhr2	A	T	13: 54,873,707 (GRCm39)	D687V	probably damaging	Het
Cops8	G	T	1: 90,532,153 (GRCm39)	L45F	possibly damaging	Het
D130043K22Rik	A	G	13: 25,071,843 (GRCm39)	H929R	probably damaging	Het
Dnah12	A	G	14: 26,492,962 (GRCm39)	E1241G	probably damaging	Het
Dock4	T	A	12: 40,780,040 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,380,518 (GRCm39)	I8V	probably benign	Het
Dst	T	C	1: 34,281,701 (GRCm39)	V5435A	probably benign	Het
Fat4	A	G	3: 38,945,330 (GRCm39)	I1408V	probably benign	Het
Fhit	G	T	14: 9,870,065 (GRCm38)	H72N	probably damaging	Het
Foxp2	C	A	6: 15,376,757 (GRCm39)		probably benign	Het
Fpgt	T	C	3: 154,792,359 (GRCm39)	Q556R	probably benign	Het
Galntl6	T	A	8: 58,230,328 (GRCm39)	E30V	probably damaging	Het
Gemin4	A	T	11: 76,104,311 (GRCm39)	V150D	probably benign	Het
Grm8	C	T	6: 27,762,460 (GRCm39)	R255H	probably damaging	Het
Hapln3	G	A	7: 78,767,184 (GRCm39)		probably null	Het
Htt	T	A	5: 35,055,916 (GRCm39)	L2609Q	probably damaging	Het
Igdcc4	A	G	9: 65,021,731 (GRCm39)		probably benign	Het
Isx	T	C	8: 75,619,306 (GRCm39)	L166P	probably benign	Het
Kcnt2	G	A	1: 140,498,155 (GRCm39)	M884I	probably benign	Het
Leo1	A	G	9: 75,373,524 (GRCm39)	N650D	probably benign	Het
Man1a	A	G	10: 53,950,810 (GRCm39)	V195A	probably benign	Het
Map2k5	A	T	9: 63,200,988 (GRCm39)	I215N	probably damaging	Het
Mier2	A	G	10: 79,377,014 (GRCm39)	*542R	probably null	Het
Mrgbp	T	A	2: 180,225,209 (GRCm39)	F55Y	probably damaging	Het
Nadsyn1	A	T	7: 143,362,527 (GRCm39)		probably null	Het
Nedd9	A	T	13: 41,469,262 (GRCm39)	Y630*	probably null	Het
Nrp1	T	C	8: 129,145,188 (GRCm39)		probably benign	Het
Or4k15b	A	G	14: 50,272,770 (GRCm39)	I30T	probably benign	Het
Or51q1c	T	A	7: 103,652,842 (GRCm39)	M120K	probably damaging	Het
Or52z12	A	G	7: 103,234,114 (GRCm39)	N295S	probably damaging	Het
Or5w17	A	T	2: 87,583,461 (GRCm39)	L292Q	probably damaging	Het
Or7g21	T	A	9: 19,032,895 (GRCm39)	C212S	probably benign	Het
Pcnx1	A	T	12: 81,953,239 (GRCm39)	I127F	probably damaging	Het
Pik3ap1	T	C	19: 41,364,329 (GRCm39)	E130G	possibly damaging	Het
Pkd1l1	G	T	11: 8,900,409 (GRCm39)	T44N	possibly damaging	Het
Polr1c	A	G	17: 46,555,135 (GRCm39)	S226P	probably damaging	Het
Pramel28	A	C	4: 143,691,565 (GRCm39)	V386G	probably damaging	Het
Prep	A	G	10: 45,029,208 (GRCm39)	Y536C	probably damaging	Het
Ptprb	A	G	10: 116,179,820 (GRCm39)	T1413A	probably benign	Het
Pwwp3a	T	A	10: 80,070,163 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,756,922 (GRCm39)	K1577N	probably benign	Het
Selplg	G	T	5: 113,957,529 (GRCm39)	T33K	probably damaging	Het
Slc26a5	T	A	5: 22,020,734 (GRCm39)	I505L	probably damaging	Het
Slc39a6	T	C	18: 24,718,413 (GRCm39)	N548S	probably damaging	Het
Tango6	T	C	8: 107,545,131 (GRCm39)	V998A	probably benign	Het
Tas2r130	A	T	6: 131,607,473 (GRCm39)	Y107*	probably null	Het
Tjp2	T	C	19: 24,078,139 (GRCm39)	E918G	probably damaging	Het
Trim12a	C	T	7: 103,956,202 (GRCm39)	A113T	probably benign	Het
Zan	T	A	5: 137,391,294 (GRCm39)	D4730V	unknown	Het
Zfp607a	A	T	7: 27,578,109 (GRCm39)	D393V	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
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
R7815:Sp7	UTSW	15	102,274,822 (GRCm39)	intron	probably benign
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

Posted On

2013-11-05