Mutagenetix > Incidental Mutation

Incidental Mutation 'R7738:Ostf1'

596401

Institutional Source

Beutler Lab

Gene Symbol

Ostf1

Ensembl Gene

ENSMUSG00000024725

Gene Name

osteoclast stimulating factor 1

Synonyms

Sh3d3, C78236, SH3P2

MMRRC Submission

045794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7738 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18557728-18609177 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 18562065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 177 (L177*)

Ref Sequence

ENSEMBL: ENSMUSP00000025631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025631]

AlphaFold

Q62422

Predicted Effect

probably null
Transcript: ENSMUST00000025631
AA Change: L177*

SMART Domains

Protein: ENSMUSP00000025631
Gene: ENSMUSG00000024725
AA Change: L177*

Domain	Start	End	E-Value	Type
SH3	15	70	1.26e-22	SMART
ANK	72	101	1.55e2	SMART
ANK	105	135	1.77e-1	SMART
ANK	139	168	5.62e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous knockout results in increased trabecular number and bone density in the femur and tibia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal1	T	A	1: 6,459,728 (GRCm39)	D101E	probably benign	Het
Ank2	C	T	3: 126,741,271 (GRCm39)	A1538T		Het
Arhgap21	A	G	2: 20,854,290 (GRCm39)	S1701P	probably damaging	Het
Arhgap21	A	G	2: 20,855,169 (GRCm39)	Y1408H	probably damaging	Het
Armc3	A	T	2: 19,293,761 (GRCm39)	L517F	probably damaging	Het
Cep57l1	T	A	10: 41,616,842 (GRCm39)	E148D	probably damaging	Het
Clstn1	A	C	4: 149,719,811 (GRCm39)	Q452P	probably damaging	Het
Csmd1	C	A	8: 16,151,004 (GRCm39)	R1437L	probably damaging	Het
Dcbld1	C	T	10: 52,188,922 (GRCm39)	T249I	possibly damaging	Het
Dsp	A	G	13: 38,369,151 (GRCm39)	E749G	probably damaging	Het
Enox1	A	C	14: 77,815,220 (GRCm39)	N126T	probably damaging	Het
Fgfr1	T	A	8: 26,048,201 (GRCm39)	L99Q	probably damaging	Het
Fscn3	G	A	6: 28,434,445 (GRCm39)	R340Q	probably benign	Het
Glrb	C	T	3: 80,767,491 (GRCm39)	C243Y	probably damaging	Het
Gpld1	A	T	13: 25,146,305 (GRCm39)	Y183F	probably damaging	Het
Has2	T	C	15: 56,531,108 (GRCm39)	K536E	possibly damaging	Het
Igtp	A	G	11: 58,097,906 (GRCm39)	E359G	probably benign	Het
Kat14	A	G	2: 144,236,162 (GRCm39)	D509G	probably damaging	Het
Kbtbd2	C	A	6: 56,756,722 (GRCm39)	S338I	possibly damaging	Het
Mpdz	A	G	4: 81,253,986 (GRCm39)	S1049P	probably benign	Het
Ncoa3	C	T	2: 165,891,987 (GRCm39)	A121V	probably damaging	Het
Nfatc4	A	G	14: 56,069,414 (GRCm39)	T647A	possibly damaging	Het
Nip7	T	C	8: 107,783,997 (GRCm39)	F79S	probably damaging	Het
Nrxn3	A	C	12: 88,817,074 (GRCm39)	E251D	possibly damaging	Het
Olig2	T	C	16: 91,024,048 (GRCm39)	I254T	unknown	Het
Or55b4	C	A	7: 102,133,818 (GRCm39)	V170F	probably damaging	Het
Or5ac16	G	A	16: 59,022,318 (GRCm39)	A157V	probably benign	Het
Pabpc2	A	T	18: 39,907,319 (GRCm39)	I195F	possibly damaging	Het
Pacs1	A	T	19: 5,202,378 (GRCm39)	M404K	probably benign	Het
Pcdh1	A	G	18: 38,330,529 (GRCm39)	S964P	probably benign	Het
Pcdhb3	T	A	18: 37,436,012 (GRCm39)	N659K	probably benign	Het
Pla2g6	A	T	15: 79,181,633 (GRCm39)	Y537*	probably null	Het
Plekhn1	G	A	4: 156,316,691 (GRCm39)	T330M	probably damaging	Het
Proc	G	A	18: 32,260,532 (GRCm39)	R198*	probably null	Het
Rfx8	G	T	1: 39,722,091 (GRCm39)	T298K	probably damaging	Het
S1pr4	A	C	10: 81,334,341 (GRCm39)	S378A	probably benign	Het
Saxo5	T	C	8: 3,533,525 (GRCm39)	F277S	probably damaging	Het
Slfn2	T	A	11: 82,960,799 (GRCm39)	F259L	probably damaging	Het
Snx14	T	C	9: 88,289,527 (GRCm39)	T242A	probably benign	Het
Sptbn2	A	G	19: 4,774,153 (GRCm39)	N68S	probably damaging	Het
Tmem44	A	T	16: 30,362,228 (GRCm39)	S201T	probably benign	Het
Ttc3	A	T	16: 94,188,241 (GRCm39)	I177L	probably benign	Het
Vmn1r177	T	C	7: 23,565,559 (GRCm39)	T106A	probably damaging	Het
Vmn1r28	T	C	6: 58,243,039 (GRCm39)	M294T	probably benign	Het
Zfp518b	G	A	5: 38,829,530 (GRCm39)	T825I	probably benign	Het
Zfp729b	A	T	13: 67,740,194 (GRCm39)	N690K	probably benign	Het

Other mutations in Ostf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Ostf1	APN	19	18,567,822 (GRCm39)	missense	probably damaging	1.00
R0514:Ostf1	UTSW	19	18,573,723 (GRCm39)	missense	probably benign
R0730:Ostf1	UTSW	19	18,581,571 (GRCm39)	missense	unknown
R2300:Ostf1	UTSW	19	18,558,644 (GRCm39)	missense	probably damaging	1.00
R2403:Ostf1	UTSW	19	18,562,026 (GRCm39)	missense	probably benign	0.00
R4685:Ostf1	UTSW	19	18,558,652 (GRCm39)	missense	probably damaging	0.98
R4724:Ostf1	UTSW	19	18,571,231 (GRCm39)	missense	probably damaging	1.00
R5369:Ostf1	UTSW	19	18,558,689 (GRCm39)	missense	probably benign	0.07
R5444:Ostf1	UTSW	19	18,558,677 (GRCm39)	missense	probably benign	0.00
R7103:Ostf1	UTSW	19	18,573,715 (GRCm39)	missense	probably null	0.06
R9516:Ostf1	UTSW	19	18,573,735 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAAGGCTCCATCTGACTTCAG -3'
(R):5'- TCTCTGAGGAACCATGCCAG -3'

Sequencing Primer
(F):5'- ACTTCAGATGGGTTTGCTTGATAC -3'
(R):5'- AGCCACATTCCTTCTGGGC -3'

Posted On

2019-11-26