Mutagenetix > Incidental Mutations

Incidental Mutation 'R7196:Csf1'

559906

Institutional Source

Beutler Lab

Gene Symbol

Csf1

Ensembl Gene

ENSMUSG00000014599

Gene Name

colony stimulating factor 1 (macrophage)

Synonyms

colony-stimulating factor-1, CSF-1, Csfm, M-CSF

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R7196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107741048-107760469 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107753898 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 77 (D77G)

Ref Sequence

ENSEMBL: ENSMUSP00000014743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014743] [ENSMUST00000118593] [ENSMUST00000120243] [ENSMUST00000120654] [ENSMUST00000153114] [ENSMUST00000156820]

PDB Structure

Structure of M-CSF bound to the first three domains of FMS [X-RAY DIFFRACTION]
Crystal structure of the mouse Colony-Stimulating Factor 1 (mCSF-1) cytokine [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE MOUSE COLONY-STIMULATING FACTOR 1 (MCSF-1) CYTOKINE IN COMPLEX WITH THE VIRAL RECEPTOR BARF1 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014743
AA Change: D77G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: D77G

Domain	Start	End	E-Value	Type
Pfam:CSF-1	1	254	6.8e-91	PFAM
Pfam:CSF-1	272	552	1.1e-147	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118593
AA Change: D77G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599
AA Change: D77G

Domain	Start	End	E-Value	Type
Pfam:CSF-1	1	257	9.5e-123	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120243
AA Change: D77G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: D77G

Domain	Start	End	E-Value	Type
Pfam:CSF-1	1	254	6.8e-91	PFAM
Pfam:CSF-1	272	552	1.1e-147	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120654

SMART Domains

Protein: ENSMUSP00000112832
Gene: ENSMUSG00000014599

Domain	Start	End	E-Value	Type
Pfam:CSF-1	31	163	1.7e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153114
AA Change: D101G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115480
Gene: ENSMUSG00000014599
AA Change: D101G

Domain	Start	End	E-Value	Type
Pfam:CSF-1	26	182	1.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156820

SMART Domains

Protein: ENSMUSP00000119553
Gene: ENSMUSG00000014599

Domain	Start	End	E-Value	Type
Pfam:CSF-1	15	142	6e-37	PFAM
Pfam:CSF-1	160	279	4.9e-52	PFAM

Meta Mutation Damage Score

0.8298

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (94/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit lack of incisors, a broad domed skull, short thick limb bones with reduced marrow cavities, impaired hearing and vision, and reduced fertility in females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,258,222		probably null	Het
4921504E06Rik	A	C	2: 19,493,995	S396A	probably benign	Het
Actr6	C	A	10: 89,714,922	V337F	possibly damaging	Het
Agtpbp1	T	C	13: 59,533,180	T73A	possibly damaging	Het
AI182371	A	T	2: 35,086,429		probably null	Het
Apob	A	G	12: 7,983,893	E202G	possibly damaging	Het
Asb4	A	T	6: 5,423,356	M168L	probably benign	Het
AU018091	T	C	7: 3,163,958	Y152C	probably damaging	Het
Casp3	G	A	8: 46,635,463	G132R	possibly damaging	Het
Cbfa2t3	C	A	8: 122,638,990	A229S	probably benign	Het
Cdh23	A	T	10: 60,307,980	Y2949N	probably damaging	Het
Ceacam3	T	C	7: 17,154,956	Y217H		Het
Cldn5	A	T	16: 18,776,880		probably benign	Het
Cltc	T	C	11: 86,706,831	D1093G	probably damaging	Het
Cnn3	G	A	3: 121,454,788		probably null	Het
Col4a2	A	G	8: 11,398,693	Y71C	probably damaging	Het
Cyp2j7	T	A	4: 96,215,414	T295S	probably benign	Het
Dnah7a	A	T	1: 53,684,841	M133K	probably benign	Het
Dock5	G	A	14: 67,756,470	P1852L	probably damaging	Het
Dpysl3	T	A	18: 43,329,845	D489V	probably damaging	Het
Dsg4	T	C	18: 20,466,480	Y718H	probably damaging	Het
Dync2h1	G	A	9: 7,147,715	Q972*	probably null	Het
Epn1	G	A	7: 5,093,381	D225N	possibly damaging	Het
Esp4	A	G	17: 40,602,365	E41G	probably benign	Het
Fam171a2	T	C	11: 102,438,346	D529G	probably benign	Het
Fbxl13	A	T	5: 21,486,303	I694N	probably damaging	Het
Fshr	C	T	17: 88,985,469	A594T	probably damaging	Het
Galnt3	A	G	2: 66,090,924	Y533H	probably damaging	Het
Gja5	C	A	3: 97,051,106	R160S	probably damaging	Het
Gm12353	A	T	4: 19,608,938	D7V	unknown	Het
Gm17669	T	C	18: 67,562,502	F39S	probably damaging	Het
Gm7145	T	A	1: 117,986,061	N224K	possibly damaging	Het
Gpd1	G	T	15: 99,722,055	G245C	probably benign	Het
Gpr4	G	A	7: 19,223,164	G337D	probably benign	Het
Hgd	G	A	16: 37,588,716	C14Y	probably benign	Het
Ibtk	A	T	9: 85,743,656	S14T	probably damaging	Het
Ifi205	G	T	1: 174,026,543	N181K	probably damaging	Het
Inppl1	G	A	7: 101,828,786	A673V	probably benign	Het
Itgb3	C	A	11: 104,633,612	Y191*	probably null	Het
Jrkl	G	T	9: 13,244,157	P500T	probably benign	Het
Kcnq1	G	A	7: 143,358,741	V515I	possibly damaging	Het
Kifc3	A	G	8: 95,106,611	V453A	probably benign	Het
Krt10	C	T	11: 99,387,545	E263K	probably damaging	Het
Lingo1	A	T	9: 56,620,619	F235I	probably damaging	Het
Lmo7	T	A	14: 101,896,500	D660E	possibly damaging	Het
Magi3	A	C	3: 104,049,168	C661W	probably benign	Het
Mmp1a	C	T	9: 7,476,017	Q428*	probably null	Het
Msrb1	A	T	17: 24,739,582	T47S	probably benign	Het
Naip6	A	T	13: 100,300,158	I619K	probably benign	Het
Ndfip2	T	C	14: 105,298,038	S253P	probably damaging	Het
Nebl	A	T	2: 17,452,518	V77E	probably damaging	Het
Nit1	T	C	1: 171,344,435	E65G	probably benign	Het
Ntn4	C	T	10: 93,733,714	H430Y	probably benign	Het
Nxpe5	A	T	5: 138,239,324	I49F	probably benign	Het
Olfr1299	T	G	2: 111,664,697	L157W	probably damaging	Het
Olfr18	A	G	9: 20,314,198	Y241H	probably benign	Het
Olfr24	A	T	9: 18,755,590	L15*	probably null	Het
Olfr310	A	T	7: 86,269,441	M116K	probably damaging	Het
Olfr382	A	G	11: 73,517,131	Y23H	probably benign	Het
Olfr605	A	T	7: 103,442,997	M42K	probably benign	Het
Olfr714	A	G	7: 107,074,728	N300S	probably benign	Het
Olfr95	A	G	17: 37,211,193	I220T	probably damaging	Het
Oxct2a	T	A	4: 123,323,372	N72I	probably damaging	Het
Pappa	G	A	4: 65,323,891		probably null	Het
Pcnx	G	A	12: 81,995,538	R34H	possibly damaging	Het
Plekha5	G	T	6: 140,543,922	V236L	possibly damaging	Het
Prdm1	A	G	10: 44,456,992	S44P	probably benign	Het
Prss46	T	A	9: 110,851,465	L226Q	probably benign	Het
Prss47	C	A	13: 65,044,826	W380C	probably benign	Het
Ptch2	T	G	4: 117,114,749	V1156G	probably benign	Het
Rab3gap2	T	C	1: 185,281,667	F1190S	probably damaging	Het
Raver2	T	G	4: 101,102,859	Y179D	probably damaging	Het
Rgl2	C	T	17: 33,933,429	R367W	probably damaging	Het
Ripor2	T	G	13: 24,704,825	I629S	possibly damaging	Het
Robo4	T	A	9: 37,402,705	M84K	possibly damaging	Het
Rps6ka5	A	T	12: 100,595,864	S252T	possibly damaging	Het
Rtl1	C	T	12: 109,592,787	V873M	possibly damaging	Het
Sla	T	A	15: 66,831,571	R4W	probably benign	Het
Smco1	A	G	16: 32,273,802	D97G	probably damaging	Het
Srgap1	T	C	10: 121,840,848	T414A	probably benign	Het
Syt14	A	G	1: 193,035,628	I3T	probably benign	Het
Tnpo2	G	A	8: 85,047,137	V303M	possibly damaging	Het
Tstd2	A	C	4: 46,119,955	S332R	probably damaging	Het
Ttn	C	A	2: 76,752,042	A22836S	possibly damaging	Het
Ufl1	A	G	4: 25,250,669	V728A	probably benign	Het
Usp33	A	T	3: 152,384,191	K789N	possibly damaging	Het
Usp54	T	A	14: 20,588,370	Q214L	probably damaging	Het
Vmn2r7	T	G	3: 64,715,777	N374T	probably benign	Het
Zbtb7a	T	A	10: 81,144,600	N209K	probably damaging	Het
Zc3hav1	A	G	6: 38,329,272	V615A	probably benign	Het
Zdhhc20	A	G	14: 57,873,891		probably null	Het
Zfp90	G	T	8: 106,425,148	V498L	probably damaging	Het

Other mutations in Csf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Csf1	APN	3	107756727	missense	probably benign	0.00
IGL00907:Csf1	APN	3	107750346	missense	probably damaging	1.00
IGL01644:Csf1	APN	3	107753842	missense	possibly damaging	0.84
R0022:Csf1	UTSW	3	107753862	missense	probably damaging	0.99
R0025:Csf1	UTSW	3	107748644	missense	probably benign
R0025:Csf1	UTSW	3	107748644	missense	probably benign
R0350:Csf1	UTSW	3	107748606	missense	probably benign	0.01
R1392:Csf1	UTSW	3	107756630	missense	probably benign	0.03
R1392:Csf1	UTSW	3	107756630	missense	probably benign	0.03
R1531:Csf1	UTSW	3	107748338	missense	possibly damaging	0.72
R1897:Csf1	UTSW	3	107748279	missense	probably damaging	1.00
R4373:Csf1	UTSW	3	107756739	missense	probably damaging	1.00
R4375:Csf1	UTSW	3	107756739	missense	probably damaging	1.00
R4376:Csf1	UTSW	3	107756739	missense	probably damaging	1.00
R4377:Csf1	UTSW	3	107756739	missense	probably damaging	1.00
R4469:Csf1	UTSW	3	107750681	critical splice donor site	probably null
R4474:Csf1	UTSW	3	107753856	missense	probably damaging	0.98
R4604:Csf1	UTSW	3	107756962	splice site	probably null
R4634:Csf1	UTSW	3	107749167	missense	probably damaging	0.96
R5086:Csf1	UTSW	3	107748710	missense	possibly damaging	0.72
R5156:Csf1	UTSW	3	107748936	missense	probably benign	0.01
R5425:Csf1	UTSW	3	107748896	missense	possibly damaging	0.96
R6120:Csf1	UTSW	3	107753854	missense	probably damaging	0.96
R6268:Csf1	UTSW	3	107747157	missense	possibly damaging	0.86
R6269:Csf1	UTSW	3	107749001	missense	probably benign	0.04
R6273:Csf1	UTSW	3	107749163	missense	probably damaging	1.00
R6298:Csf1	UTSW	3	107748359	missense	possibly damaging	0.96
R7375:Csf1	UTSW	3	107748179	missense	possibly damaging	0.96
R7437:Csf1	UTSW	3	107750756	missense	probably benign	0.00
R7464:Csf1	UTSW	3	107748875	missense	probably benign	0.03
R7780:Csf1	UTSW	3	107750393	missense	probably damaging	0.96
R7808:Csf1	UTSW	3	107760045	missense	possibly damaging	0.70
R8153:Csf1	UTSW	3	107748704	missense	probably damaging	0.98
Z1177:Csf1	UTSW	3	107749080	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TCGGTGAGCATATGAGGCAG -3'
(R):5'- CCAAGGGTATCACCATCCTC -3'

Sequencing Primer
(F):5'- TGGGACCTCTGTAGCCTC -3'
(R):5'- ATCCTCATCACCAGGGTGG -3'

Posted On

2019-06-26