Mutagenetix > Incidental Mutation

Incidental Mutation 'R7985:Csf3'

651442

Institutional Source

Beutler Lab

Gene Symbol

Csf3

Ensembl Gene

ENSMUSG00000038067

Gene Name

colony stimulating factor 3 (granulocyte)

Synonyms

MGI-IG, G-CSF, Csfg

MMRRC Submission

046026-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98592089-98594455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98593273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 130 (G130D)

Ref Sequence

ENSEMBL: ENSMUSP00000037762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017354] [ENSMUST00000038886] [ENSMUST00000100500] [ENSMUST00000138750]

AlphaFold

P09920

Predicted Effect

probably benign
Transcript: ENSMUST00000017354

SMART Domains

Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210

Domain	Start	End	E-Value	Type
Pfam:Med24_N	1	985	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000038886
AA Change: G130D

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

SMART Domains

Protein: ENSMUSP00000037762
Gene: ENSMUSG00000038067
AA Change: G130D

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	31	54	N/A	INTRINSIC
IL6	57	205	3.59e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100500

SMART Domains

Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210

Domain	Start	End	E-Value	Type
Pfam:Med24_N	1	1004	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138750

SMART Domains

Protein: ENSMUSP00000120002
Gene: ENSMUSG00000017210

Domain	Start	End	E-Value	Type
Pfam:Med24_N	1	46	1.4e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (54/55)

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 granulocytes. The active protein is found extracellularly. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit chronic neutropenia, with severely reduced peripheral blood neutrophil levels, and reduced resistance to Listeria monocytogenes infection. Heterozygotes have intermediate neutrophil levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,494,693 (GRCm39)	S77R	unknown	Het
Adamts1	T	C	16: 85,595,002 (GRCm39)	Y582C	probably damaging	Het
Ahnak2	A	T	12: 112,745,398 (GRCm39)	V683E		Het
Allc	T	G	12: 28,603,971 (GRCm39)	T371P	probably damaging	Het
Ankrd12	A	G	17: 66,291,191 (GRCm39)	I1414T	probably benign	Het
Bahcc1	A	G	11: 120,163,717 (GRCm39)	K672E	probably damaging	Het
C3ar1	A	T	6: 122,826,964 (GRCm39)	S418T	probably damaging	Het
Calca	A	G	7: 114,234,413 (GRCm39)	V12A	possibly damaging	Het
Carmil3	A	G	14: 55,734,409 (GRCm39)	E410G	probably benign	Het
Cfh	A	G	1: 140,036,564 (GRCm39)	F680S	probably damaging	Het
Cracd	T	C	5: 76,805,897 (GRCm39)	V123A	unknown	Het
Cuedc1	A	T	11: 88,073,342 (GRCm39)	Q169L	probably benign	Het
Cyp2c66	T	A	19: 39,102,430 (GRCm39)	W20R	probably null	Het
Dguok	C	T	6: 83,457,914 (GRCm39)	E240K	probably damaging	Het
Dlg1	T	G	16: 31,606,923 (GRCm39)	Y220*	probably null	Het
Dnah7a	T	C	1: 53,557,886 (GRCm39)	Y2176C	probably damaging	Het
Dnai1	T	C	4: 41,630,055 (GRCm39)	I488T	probably benign	Het
Dock1	G	T	7: 134,348,683 (GRCm39)	C299F	possibly damaging	Het
Ebi3	C	T	17: 56,260,997 (GRCm39)	T59M	probably benign	Het
Esrp1	G	A	4: 11,367,153 (GRCm39)	S160F	probably benign	Het
Evi5l	A	G	8: 4,253,536 (GRCm39)	D471G	probably benign	Het
Farp2	T	C	1: 93,504,246 (GRCm39)	F341S	probably damaging	Het
Fbn1	A	G	2: 125,143,798 (GRCm39)	V2777A	probably benign	Het
Glcci1	T	C	6: 8,573,186 (GRCm39)	I225T	probably damaging	Het
Gm3336	A	G	8: 71,173,176 (GRCm39)	T63A	unknown	Het
Gm9767	A	G	10: 25,954,681 (GRCm39)	T78A	unknown	Het
H2-T5	T	G	17: 36,478,445 (GRCm39)	T168P	probably damaging	Het
Habp4	T	A	13: 64,323,860 (GRCm39)	M261K	probably benign	Het
Herc2	A	G	7: 55,814,992 (GRCm39)	T2744A	probably benign	Het
Hlx	A	G	1: 184,464,223 (GRCm39)	V39A	probably benign	Het
Ifi204	G	A	1: 173,587,772 (GRCm39)	T129I	possibly damaging	Het
Itfg1	A	G	8: 86,452,197 (GRCm39)	I534T	probably damaging	Het
Klhl33	A	T	14: 51,128,962 (GRCm39)	C496S	probably benign	Het
Lamb1	T	A	12: 31,350,214 (GRCm39)	V713D	possibly damaging	Het
Mon2	G	T	10: 122,852,213 (GRCm39)	H1052Q	probably damaging	Het
Ndst2	T	C	14: 20,778,478 (GRCm39)		probably null	Het
Nphp1	A	T	2: 127,587,829 (GRCm39)	M582K	probably damaging	Het
Nt5el	C	T	13: 105,256,482 (GRCm39)	T517I	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or2w3b	A	G	11: 58,623,532 (GRCm39)	V153A	possibly damaging	Het
Or8b47	T	A	9: 38,435,239 (GRCm39)	D70E	probably damaging	Het
Padi2	A	T	4: 140,659,403 (GRCm39)	H236L	probably benign	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Psenen	T	C	7: 30,261,503 (GRCm39)	I75V	probably benign	Het
Pycr1	A	T	11: 120,533,746 (GRCm39)	M37K	probably benign	Het
Rpl4	T	A	9: 64,085,212 (GRCm39)	N317K	probably damaging	Het
Scart2	T	A	7: 139,876,806 (GRCm39)	D732E	probably damaging	Het
Scn8a	T	A	15: 100,914,843 (GRCm39)		probably null	Het
Sdk1	A	G	5: 142,113,602 (GRCm39)	T1550A	probably damaging	Het
Shisa6	G	T	11: 66,265,990 (GRCm39)	T246K		Het
Sis	A	T	3: 72,844,294 (GRCm39)		probably null	Het
Slc22a14	A	C	9: 118,999,704 (GRCm39)	S496A	probably benign	Het
Slc8a3	G	A	12: 81,361,767 (GRCm39)	R351C	probably damaging	Het
Surf2	A	G	2: 26,809,288 (GRCm39)	K202R	probably benign	Het
Tnxb	T	A	17: 34,935,984 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,239,983 (GRCm39)	N134I	probably damaging	Het
Wdr97	T	C	15: 76,245,687 (GRCm39)	V1308A		Het
Xpr1	G	A	1: 155,188,641 (GRCm39)	A333V	possibly damaging	Het
Zfp408	A	T	2: 91,476,776 (GRCm39)	M126K	probably benign	Het
Zfy2	T	C	Y: 2,116,263 (GRCm39)	Q259R	probably benign	Het

Other mutations in Csf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02745:Csf3	APN	11	98,593,303 (GRCm39)	missense	probably damaging	1.00
R1210:Csf3	UTSW	11	98,593,303 (GRCm39)	missense	probably damaging	1.00
R1769:Csf3	UTSW	11	98,593,246 (GRCm39)	missense	probably damaging	1.00
R2041:Csf3	UTSW	11	98,592,483 (GRCm39)	missense	possibly damaging	0.49
R5112:Csf3	UTSW	11	98,593,749 (GRCm39)	missense	probably damaging	1.00
R5795:Csf3	UTSW	11	98,592,853 (GRCm39)	missense	probably damaging	1.00
R6825:Csf3	UTSW	11	98,593,273 (GRCm39)	missense	probably damaging	1.00
R8473:Csf3	UTSW	11	98,592,928 (GRCm39)	missense	probably damaging	1.00
R9689:Csf3	UTSW	11	98,592,949 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGCAGCAGGTGAGTATTTTCG -3'
(R):5'- AGAGTCTGTCTGTCTCTCAGC -3'

Sequencing Primer
(F):5'- GTATTTTCGGAAAAAGGAGGACC -3'
(R):5'- TGTCTCTCAGCCTGGAGGAAG -3'

Posted On

2020-09-15