Incidental Mutation 'R0350:Csf1'
| ID |
29644 |
| 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 |
038557-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R0350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107655922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 370
(M370V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014743]
[ENSMUST00000118593]
[ENSMUST00000120243]
[ENSMUST00000120654]
[ENSMUST00000153114]
[ENSMUST00000156820]
|
| AlphaFold |
P07141 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014743
AA Change: M370V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: M370V
| 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
AA Change: M370V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: M370V
| 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 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 benign
Transcript: ENSMUST00000156820
AA Change: M258V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119553
Gene: ENSMUSG00000014599
AA Change: M258V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
15 |
142 |
6e-37 |
PFAM |
|
Pfam:CSF-1
|
160 |
279 |
4.9e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| 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 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,037,600 (GRCm39) |
Y66N |
probably damaging |
Het |
| Apol6 |
C |
T |
15: 76,935,147 (GRCm39) |
Q139* |
probably null |
Het |
| Armh1 |
C |
A |
4: 117,072,753 (GRCm39) |
E244* |
probably null |
Het |
| Cd1d1 |
A |
T |
3: 86,904,880 (GRCm39) |
H219Q |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,950,568 (GRCm39) |
L121P |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,607,411 (GRCm39) |
Y255H |
possibly damaging |
Het |
| Cog4 |
T |
A |
8: 111,580,328 (GRCm39) |
L133I |
possibly damaging |
Het |
| Ddi2 |
G |
A |
4: 141,412,834 (GRCm39) |
T26M |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,391,507 (GRCm39) |
D32G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,581,706 (GRCm39) |
V16A |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,354,047 (GRCm39) |
N337S |
possibly damaging |
Het |
| Flii |
T |
C |
11: 60,612,683 (GRCm39) |
D227G |
probably damaging |
Het |
| Hsf1 |
A |
G |
15: 76,384,679 (GRCm39) |
T485A |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,884,505 (GRCm39) |
R2614* |
probably null |
Het |
| Iqch |
T |
C |
9: 63,408,158 (GRCm39) |
T630A |
probably benign |
Het |
| Itgal |
T |
A |
7: 126,921,253 (GRCm39) |
D770E |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,316,449 (GRCm39) |
V759E |
probably damaging |
Het |
| Mrps17 |
A |
G |
5: 129,795,209 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
A |
G |
18: 4,396,195 (GRCm39) |
S496G |
possibly damaging |
Het |
| Nkd1 |
T |
A |
8: 89,311,844 (GRCm39) |
Y39* |
probably null |
Het |
| Nmd3 |
A |
G |
3: 69,650,907 (GRCm39) |
Y359C |
probably damaging |
Het |
| Nr1h3 |
G |
A |
2: 91,022,170 (GRCm39) |
L153F |
possibly damaging |
Het |
| Nuf2 |
T |
A |
1: 169,341,112 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
C |
2: 90,112,926 (GRCm39) |
|
probably null |
Het |
| Or4c113 |
T |
A |
2: 88,885,700 (GRCm39) |
K23N |
probably benign |
Het |
| Or8b12i |
A |
T |
9: 20,082,032 (GRCm39) |
Y278* |
probably null |
Het |
| Pnn |
T |
C |
12: 59,113,903 (GRCm39) |
|
probably null |
Het |
| Ppm1j |
A |
G |
3: 104,690,687 (GRCm39) |
D230G |
probably benign |
Het |
| Ppp1r15a |
A |
T |
7: 45,172,442 (GRCm39) |
L650Q |
probably damaging |
Het |
| Prss37 |
T |
C |
6: 40,491,893 (GRCm39) |
E229G |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,266,372 (GRCm39) |
V465A |
possibly damaging |
Het |
| Rubcnl |
G |
T |
14: 75,278,331 (GRCm39) |
V372F |
probably damaging |
Het |
| Sema6a |
G |
T |
18: 47,403,785 (GRCm39) |
D595E |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,377 (GRCm39) |
F43S |
probably damaging |
Het |
| Slc39a5 |
C |
T |
10: 128,232,619 (GRCm39) |
|
probably null |
Het |
| Slco4c1 |
A |
G |
1: 96,756,574 (GRCm39) |
F583L |
probably benign |
Het |
| Sox9 |
A |
G |
11: 112,675,702 (GRCm39) |
Y297C |
probably damaging |
Het |
| Taf1b |
A |
G |
12: 24,564,884 (GRCm39) |
D167G |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,861,321 (GRCm39) |
|
probably null |
Het |
| Uba6 |
A |
C |
5: 86,292,237 (GRCm39) |
V402G |
possibly damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,324 (GRCm39) |
Y682C |
probably damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,403 (GRCm39) |
D291G |
probably damaging |
Het |
| Xpr1 |
A |
T |
1: 155,206,214 (GRCm39) |
F156Y |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,987,277 (GRCm39) |
E99K |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,724,124 (GRCm39) |
H2042Q |
probably benign |
Het |
| Zfp937 |
T |
A |
2: 150,081,222 (GRCm39) |
D417E |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCTGTGTCAGTCAAAGGAATG -3'
(R):5'- TGGGCACTAACTGGGTCCTAGAAG -3'
Sequencing Primer
(F):5'- ACAATGCCCCAAGAGTGG -3'
(R):5'- GCTTCTGGAGAGGCTAGTGAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation