Incidental Mutation 'IGL00907:Csf1'
| ID | 27075 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Csf1
|
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| Ensembl Gene |
ENSMUSG00000014599 |
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| Gene Name | colony stimulating factor 1 (macrophage) |
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| Synonyms | colony-stimulating factor-1, CSF-1, Csfm, M-CSF |
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| Accession Numbers | |
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| Is this an essential gene? |
Possibly essential (E-score: 0.673)
|
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| Stock # | IGL00907
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 3 |
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| Chromosomal Location | 107741048-107760469 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 107750346 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Asparagine to Serine
at position 76
(N76S)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000112832
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014743]
[ENSMUST00000118593]
[ENSMUST00000120243]
[ENSMUST00000120654]
[ENSMUST00000153114]
[ENSMUST00000156820]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000014743
AA Change: N170S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
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| SMART Domains |
Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: N170S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
1 |
254 |
6.8e-91 |
PFAM |
|
Pfam:CSF-1
|
272 |
552 |
1.1e-147 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000118593
AA Change: N170S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
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| SMART Domains |
Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599
AA Change: N170S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
1 |
257 |
9.5e-123 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000120243
AA Change: N170S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
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| SMART Domains |
Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: N170S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
1 |
254 |
6.8e-91 |
PFAM |
|
Pfam:CSF-1
|
272 |
552 |
1.1e-147 |
PFAM |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120654
AA Change: N76S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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| SMART Domains |
Protein: ENSMUSP00000112832
Gene: ENSMUSG00000014599
AA Change: N76S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
31 |
163 |
1.7e-68 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000153114
|
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| SMART Domains |
Protein: ENSMUSP00000115480
Gene: ENSMUSG00000014599
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
26 |
182 |
1.1e-54 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155557
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156820
AA Change: N58S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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| SMART Domains |
Protein: ENSMUSP00000119553
Gene: ENSMUSG00000014599
AA Change: N58S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
15 |
142 |
6e-37 |
PFAM |
|
Pfam:CSF-1
|
160 |
279 |
4.9e-52 |
PFAM |
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
A |
G |
10: 4,454,051 |
F379V |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,561,705 |
D502G |
possibly damaging |
Het |
| Brwd3 |
A |
G |
X: 108,784,246 |
|
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,864,249 |
H1259Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,840,435 |
I1401T |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,332,330 |
|
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,540,555 |
I141N |
probably damaging |
Het |
| Etl4 |
G |
A |
2: 20,766,478 |
G674D |
possibly damaging |
Het |
| Fam234a |
G |
A |
17: 26,213,526 |
R550W |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,818,273 |
S347P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,649,902 |
R517L |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 117,734,694 |
I157L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,690,331 |
S1269P |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,427,448 |
|
probably benign |
Het |
| Kin |
G |
A |
2: 10,080,704 |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,080,706 |
W26R |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 136,525,162 |
C95Y |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,144,651 |
V383A |
probably benign |
Het |
| Mael |
A |
G |
1: 166,204,849 |
Y314H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,563,290 |
V794A |
possibly damaging |
Het |
| Nr4a2 |
T |
A |
2: 57,109,217 |
I340F |
probably damaging |
Het |
| Olfr1195 |
A |
G |
2: 88,683,294 |
V146A |
probably benign |
Het |
| Olfr477 |
A |
T |
7: 107,990,890 |
D175V |
probably damaging |
Het |
| Olfr836 |
T |
A |
9: 19,121,232 |
D89E |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,107,564 |
V641A |
probably benign |
Het |
| Phf24 |
C |
T |
4: 42,938,667 |
T264I |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,753,423 |
|
probably benign |
Het |
| Scn1a |
A |
C |
2: 66,327,797 |
S411A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,947,834 |
V112A |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,640,931 |
N206S |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,165,578 |
G892S |
probably benign |
Het |
| Ttc32 |
T |
A |
12: 9,034,953 |
Y58N |
probably damaging |
Het |
|
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| Other mutations in Csf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Csf1
|
APN |
3 |
107756727 |
missense |
probably benign |
0.00 |
|
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 |
|
R7196:Csf1
|
UTSW |
3 |
107753898 |
missense |
possibly damaging |
0.91 |
|
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 |
|
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| Posted On | 2013-04-17 |
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