Incidental Mutation 'R1897:Csf1'
| ID |
212031 |
| 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 |
039917-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R1897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107655595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 90
(V90M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112832
(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: V479M
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: V479M
| 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: V184M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599
AA Change: V184M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
1 |
257 |
9.5e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120243
AA Change: V479M
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: V479M
| 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 damaging
Transcript: ENSMUST00000120654
AA Change: V90M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112832
Gene: ENSMUSG00000014599
AA Change: V90M
| 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
|
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.8%
|
| Validation Efficiency |
99% (72/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
A |
G |
1: 155,434,564 (GRCm39) |
S61G |
probably damaging |
Het |
| Acot12 |
A |
G |
13: 91,932,516 (GRCm39) |
N504S |
probably benign |
Het |
| Adcy3 |
C |
T |
12: 4,223,450 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
A |
T |
6: 55,456,179 (GRCm39) |
H168L |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,206,065 (GRCm39) |
E213G |
probably benign |
Het |
| Aldh1l2 |
G |
T |
10: 83,338,389 (GRCm39) |
T510K |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,602,094 (GRCm39) |
M231L |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,474,647 (GRCm39) |
|
probably null |
Het |
| Atf7ip2 |
C |
T |
16: 10,028,948 (GRCm39) |
P160L |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,895,772 (GRCm39) |
L554P |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,343,908 (GRCm39) |
M884L |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,418,941 (GRCm39) |
I499V |
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,616 (GRCm39) |
D60G |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,095,192 (GRCm39) |
T626A |
possibly damaging |
Het |
| Cep250 |
A |
G |
2: 155,818,015 (GRCm39) |
E789G |
probably damaging |
Het |
| Cmpk2 |
T |
C |
12: 26,524,046 (GRCm39) |
L281P |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,746,047 (GRCm39) |
R1691C |
probably damaging |
Het |
| Cul2 |
T |
G |
18: 3,414,164 (GRCm39) |
M86R |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,584 (GRCm39) |
F79S |
probably damaging |
Het |
| Dkk1 |
G |
T |
19: 30,526,678 (GRCm39) |
N34K |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,158,745 (GRCm39) |
L619F |
probably benign |
Het |
| Eif2b5 |
T |
C |
16: 20,325,787 (GRCm39) |
V588A |
probably damaging |
Het |
| Elf3 |
A |
T |
1: 135,184,875 (GRCm39) |
Y104N |
probably damaging |
Het |
| Fahd2a |
T |
C |
2: 127,278,530 (GRCm39) |
D272G |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,387,271 (GRCm39) |
C188* |
probably null |
Het |
| Fbxw8 |
T |
C |
5: 118,266,941 (GRCm39) |
Y174C |
probably benign |
Het |
| Gnl1 |
C |
A |
17: 36,299,584 (GRCm39) |
P585Q |
possibly damaging |
Het |
| Greb1l |
T |
C |
18: 10,498,992 (GRCm39) |
S292P |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,037,446 (GRCm39) |
|
probably null |
Het |
| Hcls1 |
C |
T |
16: 36,783,005 (GRCm39) |
P452L |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,350,007 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,552,525 (GRCm39) |
S25P |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,928,928 (GRCm39) |
V100A |
probably benign |
Het |
| Isl1 |
C |
T |
13: 116,439,866 (GRCm39) |
E161K |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,162,555 (GRCm39) |
N160K |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,936,182 (GRCm39) |
V619A |
probably damaging |
Het |
| Mpc1 |
G |
A |
17: 8,515,710 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,199,523 (GRCm39) |
N1377I |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,195,596 (GRCm39) |
I607V |
probably benign |
Het |
| Or2g1 |
T |
G |
17: 38,107,075 (GRCm39) |
S247A |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,361 (GRCm39) |
I245K |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 132,994,654 (GRCm39) |
D206G |
possibly damaging |
Het |
| Pipox |
A |
G |
11: 77,773,568 (GRCm39) |
Y228H |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,610,131 (GRCm39) |
V401D |
possibly damaging |
Het |
| Plod1 |
C |
T |
4: 148,010,657 (GRCm39) |
E265K |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,646,664 (GRCm39) |
|
probably null |
Het |
| Qars1 |
C |
T |
9: 108,391,282 (GRCm39) |
Q7* |
probably null |
Het |
| Rpap2 |
T |
A |
5: 107,780,961 (GRCm39) |
V479E |
possibly damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,421,749 (GRCm39) |
Y723C |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,765,818 (GRCm39) |
M1306K |
probably benign |
Het |
| Sesn3 |
A |
C |
9: 14,219,941 (GRCm39) |
Y110S |
probably damaging |
Het |
| Sgce |
C |
T |
6: 4,691,511 (GRCm39) |
V319I |
probably benign |
Het |
| Slc15a5 |
G |
T |
6: 138,056,762 (GRCm39) |
F51L |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,395,765 (GRCm39) |
C723S |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,027,862 (GRCm39) |
|
probably null |
Het |
| Snx2 |
T |
A |
18: 53,330,950 (GRCm39) |
D138E |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,729,740 (GRCm39) |
L126* |
probably null |
Het |
| Stam |
T |
C |
2: 14,133,837 (GRCm39) |
S195P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,990,271 (GRCm39) |
I82V |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,072,412 (GRCm39) |
C202* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,899,681 (GRCm39) |
D683G |
probably benign |
Het |
| Tfec |
A |
G |
6: 16,835,307 (GRCm39) |
V157A |
probably damaging |
Het |
| Tff1 |
T |
G |
17: 31,383,912 (GRCm39) |
Q28P |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,314 (GRCm39) |
Y396H |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,307,829 (GRCm39) |
M803K |
probably damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,953,566 (GRCm39) |
K577E |
probably damaging |
Het |
| Vrk1 |
T |
C |
12: 106,002,799 (GRCm39) |
|
probably benign |
Het |
| Wdr20 |
A |
G |
12: 110,760,157 (GRCm39) |
T348A |
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 |
|
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 |
|
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'- AGCAACTGCATAACGTATTGGAAC -3'
(R):5'- TTCCCAAAAGCCACTCTTGGG -3'
Sequencing Primer
(F):5'- AACGTATTGGAACCTGGTTAGCCTC -3'
(R):5'- CAAAAGCCACTCTTGGGGCATTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation