Incidental Mutation 'R0022:Csf1'
| ID |
15232 |
| 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 |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107661178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 113
(V113E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014743]
[ENSMUST00000118593]
[ENSMUST00000120243]
[ENSMUST00000120654]
[ENSMUST00000153114]
[ENSMUST00000156820]
|
| AlphaFold |
P07141 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014743
AA Change: V89E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: V89E
| 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 |
possibly damaging
Transcript: ENSMUST00000118593
AA Change: V89E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599
AA Change: V89E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
1 |
257 |
9.5e-123 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120243
AA Change: V89E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: V89E
| 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: V113E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115480
Gene: ENSMUSG00000014599
AA Change: V113E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
26 |
182 |
1.1e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155557
|
| 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 |
0.8247 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R4469:Csf1
|
UTSW |
3 |
107,657,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2012-12-12 |
Incidental Mutation