Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Csf1r'

79721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csf1r

Ensembl Gene

ENSMUSG00000024621

Gene Name

colony stimulating factor 1 receptor

Synonyms

Fms, Fim-2, CD115, M-CSFR, CSF-1R, Csfmr

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

61105572-61132149 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61114825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 322 (T322A)

Ref Sequence

ENSEMBL: ENSMUSP00000110923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025523] [ENSMUST00000115268]

AlphaFold

P09581

PDB Structure

Structure of M-CSF bound to the first three domains of FMS [X-RAY DIFFRACTION]
Structure of mouse Interleukin-34 in complex with mouse FMS [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000025523
AA Change: T322A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: T322A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	102	4.63e-8	SMART
IG	112	196	7.82e-6	SMART
IGc2	215	285	1.36e-5	SMART
IG	308	397	3.2e-2	SMART
IG_like	402	504	1.8e2	SMART
transmembrane domain	513	535	N/A	INTRINSIC
TyrKc	580	908	1.45e-134	SMART
low complexity region	926	954	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115268
AA Change: T322A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: T322A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	102	4.63e-8	SMART
IG	112	196	7.82e-6	SMART
IGc2	215	285	1.36e-5	SMART
IG	308	397	3.2e-2	SMART
IG_like	402	504	1.8e2	SMART
transmembrane domain	513	535	N/A	INTRINSIC
TyrKc	580	908	1.45e-134	SMART
low complexity region	926	954	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183458

Coding Region Coverage

Validation Efficiency

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 the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,229,170		probably benign	Het
Abcb5	A	T	12: 118,872,867	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,919,610	Q605L	probably benign	Het
Adk	A	G	14: 21,234,915	K102R	probably damaging	Het
Afdn	C	T	17: 13,903,870	P1761S	probably damaging	Het
Ascc1	A	G	10: 60,012,458		probably benign	Het
Aspdh	A	G	7: 44,466,559		probably null	Het
Bbx	T	C	16: 50,202,513	I753V	probably benign	Het
Ccdc33	T	C	9: 58,117,385	Y186C	probably damaging	Het
Ccdc78	T	A	17: 25,788,244		probably null	Het
Ckmt1	T	C	2: 121,362,966		probably benign	Het
Dnah7b	T	C	1: 46,116,300		probably benign	Het
Dr1	A	G	5: 108,269,710	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,839,626	T633I	possibly damaging	Het
Fgf7	T	A	2: 126,035,940	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,593,097	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,932,242	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,963,436	I75F	probably damaging	Het
Inhbc	T	A	10: 127,370,099	I100F	probably damaging	Het
Irs3	A	G	5: 137,645,319	F68L	probably damaging	Het
Itpr3	T	A	17: 27,118,595	C2460S	probably damaging	Het
Krt34	A	G	11: 100,038,290	C365R	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ly6g	A	G	15: 75,158,648	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,406,578	I72F	probably damaging	Het
Myo9a	G	A	9: 59,871,563	R1534H	probably damaging	Het
Npat	T	A	9: 53,555,129	F239L	probably benign	Het
Nsd2	A	G	5: 33,885,378		probably benign	Het
Nuggc	T	C	14: 65,623,186	V427A	probably benign	Het
Olfr476	A	G	7: 107,967,621	T75A	possibly damaging	Het
Olfr690	G	A	7: 105,329,398	R265C	probably benign	Het
Pde4a	A	T	9: 21,205,116	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,483,833	C198*	probably null	Het
Pla2r1	A	G	2: 60,424,288	V1312A	probably damaging	Het
Pola2	T	C	19: 5,959,093	H79R	probably benign	Het
Pramef20	A	T	4: 144,377,133	M141K	probably benign	Het
Psen2	A	T	1: 180,234,983		probably benign	Het
Rnf213	A	G	11: 119,443,300	K3112E	probably damaging	Het
Slc6a4	G	T	11: 77,031,672	V630L	probably benign	Het
Smg1	A	T	7: 118,158,132		probably benign	Het
Tmc8	A	G	11: 117,791,074	T510A	possibly damaging	Het
Usp18	T	A	6: 121,268,668	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 19,792,967	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,479	D1857E	probably benign	Het

Other mutations in Csf1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Csf1r	APN	18	61129301	missense	probably damaging	1.00
IGL02377:Csf1r	APN	18	61124468	splice site	probably benign
IGL03000:Csf1r	APN	18	61109652	missense	probably damaging	0.97
IGL03011:Csf1r	APN	18	61110401	missense	probably benign	0.00
IGL03132:Csf1r	APN	18	61128099	missense	probably benign	0.03
IGL03189:Csf1r	APN	18	61105986	missense	probably benign	0.05
IGL03224:Csf1r	APN	18	61112062	missense	probably damaging	0.96
IGL03351:Csf1r	APN	18	61117108	nonsense	probably null
ANU74:Csf1r	UTSW	18	61117391	missense	probably benign	0.09
R1245:Csf1r	UTSW	18	61114812	missense	probably benign
R1363:Csf1r	UTSW	18	61124845	missense	possibly damaging	0.95
R1651:Csf1r	UTSW	18	61110401	missense	possibly damaging	0.64
R1785:Csf1r	UTSW	18	61129077	missense	probably damaging	0.98
R1786:Csf1r	UTSW	18	61129077	missense	probably damaging	0.98
R1902:Csf1r	UTSW	18	61130141	missense	probably damaging	0.99
R1968:Csf1r	UTSW	18	61112795	missense	probably benign	0.00
R2177:Csf1r	UTSW	18	61114943	splice site	probably benign
R3743:Csf1r	UTSW	18	61114774	missense	probably benign	0.01
R3809:Csf1r	UTSW	18	61112764	missense	probably benign	0.22
R4374:Csf1r	UTSW	18	61119006	missense	probably damaging	0.99
R4683:Csf1r	UTSW	18	61124911	missense	probably damaging	1.00
R4973:Csf1r	UTSW	18	61129047	missense	probably damaging	1.00
R5080:Csf1r	UTSW	18	61124301	missense	probably damaging	1.00
R5314:Csf1r	UTSW	18	61129724	missense	probably damaging	1.00
R5936:Csf1r	UTSW	18	61125808	missense	probably damaging	1.00
R6015:Csf1r	UTSW	18	61109712	missense	possibly damaging	0.50
R6227:Csf1r	UTSW	18	61125828	nonsense	probably null
R6505:Csf1r	UTSW	18	61129733	missense	probably damaging	1.00
R6602:Csf1r	UTSW	18	61110425	missense	possibly damaging	0.81
R6811:Csf1r	UTSW	18	61119053	missense	probably damaging	1.00
R6813:Csf1r	UTSW	18	61112734	missense	probably benign
R7218:Csf1r	UTSW	18	61130324	missense	probably damaging	1.00
R7480:Csf1r	UTSW	18	61117538	missense	probably benign	0.06
R7752:Csf1r	UTSW	18	61110296	missense	probably damaging	1.00
R7762:Csf1r	UTSW	18	61110500	missense	probably benign	0.01
R7901:Csf1r	UTSW	18	61110296	missense	probably damaging	1.00
R7953:Csf1r	UTSW	18	61124875	missense	probably damaging	1.00
R7986:Csf1r	UTSW	18	61114832	missense	probably benign	0.00
R8012:Csf1r	UTSW	18	61117064	missense	possibly damaging	0.86
R8043:Csf1r	UTSW	18	61124875	missense	probably damaging	1.00
R8296:Csf1r	UTSW	18	61117678	missense	probably damaging	1.00
R8355:Csf1r	UTSW	18	61128150	missense	probably damaging	1.00
R8371:Csf1r	UTSW	18	61117591	missense	probably benign	0.26
R8421:Csf1r	UTSW	18	61127894	missense	probably damaging	1.00
R8493:Csf1r	UTSW	18	61114882	missense	probably damaging	0.98
R8726:Csf1r	UTSW	18	61117656	missense	probably benign	0.17
R8786:Csf1r	UTSW	18	61114870	missense	probably damaging	0.98
R9262:Csf1r	UTSW	18	61110334	missense	probably benign	0.00
R9555:Csf1r	UTSW	18	61110401	missense	possibly damaging	0.64
R9627:Csf1r	UTSW	18	61127900	missense	probably damaging	1.00
R9778:Csf1r	UTSW	18	61127885	missense	possibly damaging	0.95

Posted On

2013-11-05