Incidental Mutation 'R4469:Csf1'
| ID |
329310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csf1
|
| Ensembl Gene |
ENSMUSG00000014599 |
| Gene Name |
colony stimulating factor 1 (macrophage) |
| Synonyms |
BAP025, M-CSF, Csfm, CSF-1, colony-stimulating factor-1 |
| MMRRC Submission |
041726-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R4469 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 107657997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014743]
[ENSMUST00000118593]
[ENSMUST00000120243]
[ENSMUST00000120654]
[ENSMUST00000153114]
[ENSMUST00000156820]
|
| AlphaFold |
P07141 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014743
|
| SMART Domains |
Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
| 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: ENSMUST00000118593
|
| SMART Domains |
Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
1 |
257 |
9.5e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120243
|
| SMART Domains |
Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
| 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 null
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 benign
Transcript: ENSMUST00000153114
|
| SMART Domains |
Protein: ENSMUSP00000115480
Gene: ENSMUSG00000014599
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
26 |
182 |
1.1e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155557
|
| Predicted Effect |
probably null
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,345 (GRCm39) |
K196E |
probably damaging |
Het |
| Ackr1 |
T |
C |
1: 173,160,112 (GRCm39) |
|
probably null |
Het |
| Adgra1 |
C |
T |
7: 139,455,977 (GRCm39) |
T535I |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,623,326 (GRCm39) |
Y310H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,033 (GRCm39) |
I928T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asb4 |
C |
A |
6: 5,423,409 (GRCm39) |
F185L |
probably benign |
Het |
| Ces2g |
A |
T |
8: 105,692,602 (GRCm39) |
I301F |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,391,898 (GRCm39) |
N121I |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,483,685 (GRCm39) |
H3364L |
probably benign |
Het |
| Dnmt3c |
A |
G |
2: 153,562,280 (GRCm39) |
T555A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,230,923 (GRCm39) |
T3017A |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,766,901 (GRCm39) |
D482G |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,925,528 (GRCm39) |
V154A |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,312,454 (GRCm39) |
|
silent |
Het |
| G6pd2 |
A |
T |
5: 61,966,288 (GRCm39) |
Y21F |
probably benign |
Het |
| Gm9376 |
C |
T |
14: 118,505,011 (GRCm39) |
P148S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gtpbp2 |
A |
G |
17: 46,472,239 (GRCm39) |
Y58C |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,137,838 (GRCm39) |
T426S |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,853,794 (GRCm39) |
Y613* |
probably null |
Het |
| Hsd17b1 |
A |
T |
11: 100,970,838 (GRCm39) |
M265L |
probably benign |
Het |
| Ier3ip1 |
A |
G |
18: 77,028,294 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,404,940 (GRCm39) |
M924V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mfsd4b1 |
T |
C |
10: 39,888,091 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,247,467 (GRCm39) |
I1588F |
probably damaging |
Het |
| Nostrin |
C |
G |
2: 69,006,061 (GRCm39) |
I248M |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,607 (GRCm39) |
L239P |
probably benign |
Het |
| Qng1 |
A |
G |
13: 58,530,239 (GRCm39) |
L257P |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,953,944 (GRCm39) |
V266A |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,286,016 (GRCm39) |
T66M |
possibly damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Smad9 |
T |
C |
3: 54,690,182 (GRCm39) |
V134A |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Ssbp2 |
G |
A |
13: 91,842,175 (GRCm39) |
G302D |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,211,545 (GRCm39) |
N159D |
possibly damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,285,035 (GRCm39) |
K37R |
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,369 (GRCm39) |
V27A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,548,105 (GRCm39) |
T32066A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Ubp1 |
C |
T |
9: 113,787,775 (GRCm39) |
T222I |
probably benign |
Het |
| Unc5cl |
C |
G |
17: 48,766,833 (GRCm39) |
P69R |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,961,950 (GRCm39) |
C24S |
probably damaging |
Het |
|
| Other mutations in Csf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Csf1
|
APN |
3 |
107,664,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00907:Csf1
|
APN |
3 |
107,657,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01644:Csf1
|
APN |
3 |
107,661,158 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0022:Csf1
|
UTSW |
3 |
107,661,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0025:Csf1
|
UTSW |
3 |
107,655,960 (GRCm39) |
missense |
probably benign |
|
|
R0025:Csf1
|
UTSW |
3 |
107,655,960 (GRCm39) |
missense |
probably benign |
|
|
R0350:Csf1
|
UTSW |
3 |
107,655,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1392:Csf1
|
UTSW |
3 |
107,663,946 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1392:Csf1
|
UTSW |
3 |
107,663,946 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1531:Csf1
|
UTSW |
3 |
107,655,654 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1897:Csf1
|
UTSW |
3 |
107,655,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Csf1
|
UTSW |
3 |
107,664,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4375:Csf1
|
UTSW |
3 |
107,664,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4376:Csf1
|
UTSW |
3 |
107,664,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4377:Csf1
|
UTSW |
3 |
107,664,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4474:Csf1
|
UTSW |
3 |
107,661,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4604:Csf1
|
UTSW |
3 |
107,664,278 (GRCm39) |
splice site |
probably null |
|
|
R4634:Csf1
|
UTSW |
3 |
107,656,483 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5086:Csf1
|
UTSW |
3 |
107,656,026 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5156:Csf1
|
UTSW |
3 |
107,656,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5425:Csf1
|
UTSW |
3 |
107,656,212 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6120:Csf1
|
UTSW |
3 |
107,661,170 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6268:Csf1
|
UTSW |
3 |
107,654,473 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6269:Csf1
|
UTSW |
3 |
107,656,317 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6273:Csf1
|
UTSW |
3 |
107,656,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Csf1
|
UTSW |
3 |
107,655,675 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7196:Csf1
|
UTSW |
3 |
107,661,214 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7375:Csf1
|
UTSW |
3 |
107,655,495 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7437:Csf1
|
UTSW |
3 |
107,658,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:Csf1
|
UTSW |
3 |
107,656,191 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7780:Csf1
|
UTSW |
3 |
107,657,709 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7808:Csf1
|
UTSW |
3 |
107,667,361 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8153:Csf1
|
UTSW |
3 |
107,656,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8765:Csf1
|
UTSW |
3 |
107,663,991 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9308:Csf1
|
UTSW |
3 |
107,655,585 (GRCm39) |
missense |
probably benign |
|
|
R9360:Csf1
|
UTSW |
3 |
107,661,158 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Csf1
|
UTSW |
3 |
107,656,396 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTTCGGACACAGGCCTG -3'
(R):5'- AGCTGTTCCTTTGGAGATCTTC -3'
Sequencing Primer
(F):5'- GTAAGCATGAACATTGGGCTACCTC -3'
(R):5'- GAGATCTTCTCCCTGGGCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation