Incidental Mutation 'R6120:Csf1'
| ID |
485701 |
| 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 |
044268-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R6120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107661170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 116
(I116L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115480
(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: I92L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: I92L
| 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
AA Change: I92L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599
AA Change: I92L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
1 |
257 |
9.5e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120243
AA Change: I92L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: I92L
| 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: I116L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115480
Gene: ENSMUSG00000014599
AA Change: I116L
| 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 |
0.4107 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (55/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,638,795 (GRCm39) |
V398E |
possibly damaging |
Het |
| Ankef1 |
A |
G |
2: 136,392,296 (GRCm39) |
N495S |
probably benign |
Het |
| Bpifb3 |
G |
T |
2: 153,773,363 (GRCm39) |
V428L |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,230,785 (GRCm39) |
L362S |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 57,993,883 (GRCm39) |
P88S |
probably damaging |
Het |
| Cdk14 |
A |
T |
5: 4,944,029 (GRCm39) |
D385E |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,666,599 (GRCm39) |
L613P |
probably damaging |
Het |
| Cnot3 |
T |
A |
7: 3,648,335 (GRCm39) |
|
probably null |
Het |
| Csrp2 |
G |
T |
10: 110,775,140 (GRCm39) |
A192S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,038,225 (GRCm39) |
T104A |
probably benign |
Het |
| Eml1 |
C |
T |
12: 108,493,983 (GRCm39) |
P593S |
probably damaging |
Het |
| Entpd2 |
T |
A |
2: 25,289,478 (GRCm39) |
I320N |
probably benign |
Het |
| Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
| Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,830,420 (GRCm39) |
T186K |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,267,760 (GRCm39) |
I1203V |
possibly damaging |
Het |
| Gja1 |
T |
A |
10: 56,264,601 (GRCm39) |
M320K |
probably benign |
Het |
| Gm5431 |
A |
G |
11: 48,785,608 (GRCm39) |
Y256H |
probably benign |
Het |
| Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
| Greb1 |
T |
G |
12: 16,758,622 (GRCm39) |
D698A |
probably damaging |
Het |
| Hook2 |
A |
G |
8: 85,724,754 (GRCm39) |
E500G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,989,007 (GRCm39) |
N796I |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,952,296 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,087,612 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
C |
T |
3: 67,501,718 (GRCm39) |
Q246* |
probably null |
Het |
| Mkrn3 |
A |
G |
7: 62,069,282 (GRCm39) |
S170P |
probably benign |
Het |
| Ms4a6b |
A |
G |
19: 11,499,059 (GRCm39) |
M58V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,577,169 (GRCm39) |
V2223A |
unknown |
Het |
| Mycbp2 |
A |
T |
14: 103,513,323 (GRCm39) |
V811D |
probably benign |
Het |
| Or5p59 |
A |
T |
7: 107,703,340 (GRCm39) |
N275Y |
probably damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,685 (GRCm39) |
F277L |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,643,031 (GRCm39) |
E436G |
probably damaging |
Het |
| Pet100 |
T |
G |
8: 3,671,764 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
G |
7: 3,844,553 (GRCm39) |
Y493H |
probably damaging |
Het |
| Prkdc |
C |
A |
16: 15,557,335 (GRCm39) |
R2213S |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,045,280 (GRCm39) |
I342T |
possibly damaging |
Het |
| Psmc6 |
A |
G |
14: 45,586,130 (GRCm39) |
E381G |
possibly damaging |
Het |
| Rrm1 |
G |
A |
7: 102,110,063 (GRCm39) |
|
probably null |
Het |
| Sema3c |
A |
G |
5: 17,932,630 (GRCm39) |
D711G |
probably benign |
Het |
| Sgcb |
T |
C |
5: 73,798,153 (GRCm39) |
E103G |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,848 (GRCm39) |
S957P |
probably damaging |
Het |
| Slc26a2 |
A |
G |
18: 61,332,489 (GRCm39) |
V314A |
possibly damaging |
Het |
| Smarca5 |
G |
T |
8: 81,438,372 (GRCm39) |
H655N |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,442,510 (GRCm39) |
S2002T |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,187,544 (GRCm39) |
L192P |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,090,800 (GRCm39) |
M477T |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vcam1 |
A |
G |
3: 115,918,049 (GRCm39) |
V304A |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,565,003 (GRCm39) |
W297R |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,973 (GRCm39) |
M69L |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,226,515 (GRCm39) |
D771G |
probably 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 |
|
|
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 |
|
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'- AGTTAGTAAGGTTCAGGCTCGG -3'
(R):5'- TCCCTTCCTCAGATTACAGGGTG -3'
Sequencing Primer
(F):5'- CTCGGTGAGCATATGAGGC -3'
(R):5'- CTTCCTCAGATTACAGGGTGACAGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation