Incidental Mutation 'R6269:Csf1'
ID |
507205 |
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 |
044440-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.645)
|
Stock # |
R6269 (G1)
|
Quality Score |
141.008 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107656317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 238
(E238G)
|
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: E238G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000014743 Gene: ENSMUSG00000014599 AA Change: E238G
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: E238G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113617 Gene: ENSMUSG00000014599 AA Change: E238G
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: E126G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000119553 Gene: ENSMUSG00000014599 AA Change: E126G
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,941,033 (GRCm39) |
I609N |
unknown |
Het |
Ano10 |
A |
T |
9: 122,090,308 (GRCm39) |
I277N |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,237,499 (GRCm39) |
D483G |
probably damaging |
Het |
As3mt |
T |
A |
19: 46,708,391 (GRCm39) |
F226Y |
probably damaging |
Het |
Atp10a |
G |
A |
7: 58,453,487 (GRCm39) |
R855H |
possibly damaging |
Het |
Bin3 |
T |
A |
14: 70,374,611 (GRCm39) |
H213Q |
probably benign |
Het |
Bora |
T |
C |
14: 99,311,103 (GRCm39) |
C512R |
probably damaging |
Het |
Camk2b |
T |
A |
11: 5,928,497 (GRCm39) |
D414V |
probably damaging |
Het |
Ccdc27 |
A |
T |
4: 154,122,179 (GRCm39) |
L233Q |
unknown |
Het |
Ccdc73 |
T |
C |
2: 104,737,978 (GRCm39) |
S25P |
probably damaging |
Het |
Cenpf |
G |
A |
1: 189,392,117 (GRCm39) |
H572Y |
probably benign |
Het |
Chil4 |
A |
G |
3: 106,111,487 (GRCm39) |
V209A |
probably damaging |
Het |
Clstn1 |
T |
C |
4: 149,728,524 (GRCm39) |
V650A |
probably benign |
Het |
Cox6a2 |
T |
A |
7: 127,805,437 (GRCm39) |
S11C |
probably benign |
Het |
Cyp2c23 |
T |
A |
19: 44,017,626 (GRCm39) |
M1L |
unknown |
Het |
Cyp4a10 |
T |
A |
4: 115,381,509 (GRCm39) |
M191K |
probably damaging |
Het |
Cyp4a14 |
A |
G |
4: 115,348,328 (GRCm39) |
V383A |
possibly damaging |
Het |
D130052B06Rik |
T |
G |
11: 33,573,916 (GRCm39) |
V171G |
possibly damaging |
Het |
Dlgap2 |
A |
G |
8: 14,872,369 (GRCm39) |
T617A |
probably benign |
Het |
Dyrk4 |
T |
A |
6: 126,863,690 (GRCm39) |
I351F |
probably damaging |
Het |
Epg5 |
T |
C |
18: 77,991,585 (GRCm39) |
V94A |
probably benign |
Het |
Fam111a |
A |
G |
19: 12,565,807 (GRCm39) |
T519A |
probably benign |
Het |
Gdpd4 |
A |
G |
7: 97,623,669 (GRCm39) |
S314G |
probably damaging |
Het |
Gm9758 |
T |
A |
5: 14,962,274 (GRCm39) |
K111N |
possibly damaging |
Het |
Gpr137b |
A |
T |
13: 13,538,096 (GRCm39) |
V285E |
probably damaging |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Itgal |
T |
A |
7: 126,929,389 (GRCm39) |
L1102Q |
probably null |
Het |
Kctd19 |
T |
A |
8: 106,121,992 (GRCm39) |
Y185F |
possibly damaging |
Het |
Kif5b |
A |
G |
18: 6,223,558 (GRCm39) |
L317P |
possibly damaging |
Het |
Klhl42 |
C |
A |
6: 146,993,805 (GRCm39) |
A259E |
probably damaging |
Het |
Lrrc2 |
A |
G |
9: 110,810,017 (GRCm39) |
D351G |
probably damaging |
Het |
Med12l |
A |
G |
3: 59,135,243 (GRCm39) |
E797G |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,489,813 (GRCm39) |
E63G |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,379,103 (GRCm39) |
|
probably null |
Het |
Or12e8 |
A |
T |
2: 87,677,218 (GRCm39) |
H201L |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp6 |
G |
A |
9: 59,557,295 (GRCm39) |
V627I |
probably benign |
Het |
Pclo |
C |
T |
5: 14,572,108 (GRCm39) |
Q498* |
probably null |
Het |
Pdlim5 |
T |
C |
3: 142,018,086 (GRCm39) |
T170A |
possibly damaging |
Het |
Pgap1 |
A |
T |
1: 54,587,167 (GRCm39) |
Y136* |
probably null |
Het |
Pgghg |
T |
A |
7: 140,526,097 (GRCm39) |
N563K |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,044,916 (GRCm39) |
M1143T |
probably benign |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Prc1 |
G |
A |
7: 79,959,175 (GRCm39) |
R381Q |
probably damaging |
Het |
Psph |
A |
T |
5: 129,843,529 (GRCm39) |
I175N |
probably damaging |
Het |
Rbbp8nl |
T |
A |
2: 179,923,305 (GRCm39) |
K131* |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Sde2 |
G |
A |
1: 180,683,371 (GRCm39) |
V42I |
probably benign |
Het |
Slc25a3 |
G |
A |
10: 90,952,963 (GRCm39) |
R314* |
probably null |
Het |
Spag9 |
A |
G |
11: 93,935,333 (GRCm39) |
N48S |
probably benign |
Het |
Srp54b |
T |
C |
12: 55,302,757 (GRCm39) |
M351T |
possibly damaging |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tcaf2 |
A |
G |
6: 42,604,342 (GRCm39) |
L679P |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,764,944 (GRCm39) |
N815K |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,509,557 (GRCm39) |
Q54L |
possibly damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,387,036 (GRCm39) |
I125K |
probably benign |
Het |
Xrra1 |
T |
C |
7: 99,566,679 (GRCm39) |
Y732H |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,227,941 (GRCm39) |
S603P |
possibly damaging |
Het |
Zfp28 |
G |
T |
7: 6,396,612 (GRCm39) |
S349I |
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 |
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 |
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'- CACTAGCCTCTCCAGAAGCTTC -3'
(R):5'- TCTTTCAGATGTGGTGACCAAGC -3'
Sequencing Primer
(F):5'- CCAGTTAGTGCCCAGTGAAGATTC -3'
(R):5'- GTGACCAAGCCTGATTGCAACTG -3'
|
Posted On |
2018-03-15 |