Incidental Mutation 'R4634:Csf1'
| ID |
381213 |
| 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 |
042009-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R4634 (G1)
|
| Quality Score |
153 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107656483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 71
(V71M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119553
(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: V183M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: V183M
| 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 |
possibly damaging
Transcript: ENSMUST00000120243
AA Change: V183M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: V183M
| 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 damaging
Transcript: ENSMUST00000156820
AA Change: V71M
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119553
Gene: ENSMUSG00000014599
AA Change: V71M
| 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 |
0.7933 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (40/41) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,456,278 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,443,033 (GRCm39) |
T77A |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,741,537 (GRCm39) |
M311V |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,774,948 (GRCm39) |
I1052N |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ceacam16 |
T |
A |
7: 19,592,531 (GRCm39) |
M126L |
probably benign |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Cln8 |
C |
T |
8: 14,944,842 (GRCm39) |
T52I |
probably damaging |
Het |
| Cops2 |
C |
A |
2: 125,682,400 (GRCm39) |
D194Y |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,058,372 (GRCm39) |
F183S |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,643,832 (GRCm39) |
K375N |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,185,981 (GRCm39) |
G1596C |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,546 (GRCm39) |
D390V |
possibly damaging |
Het |
| Gm42669 |
A |
T |
5: 107,656,079 (GRCm39) |
I781F |
possibly damaging |
Het |
| Gprin1 |
G |
T |
13: 54,885,871 (GRCm39) |
P801Q |
probably damaging |
Het |
| Hira |
C |
A |
16: 18,765,150 (GRCm39) |
S609R |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,033,292 (GRCm39) |
K1853N |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,437 (GRCm39) |
I4V |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,447 (GRCm39) |
Y211H |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,706 (GRCm39) |
N967K |
possibly damaging |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rabepk |
A |
G |
2: 34,670,752 (GRCm39) |
M228T |
probably damaging |
Het |
| Rcn3 |
T |
A |
7: 44,738,092 (GRCm39) |
D92V |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,297 (GRCm39) |
Y250F |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,498,693 (GRCm39) |
T334A |
probably benign |
Het |
| Trip11 |
G |
T |
12: 101,803,875 (GRCm39) |
T1669K |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,570,673 (GRCm39) |
L1091P |
probably damaging |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,660 (GRCm39) |
V85A |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,663 (GRCm39) |
C181R |
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 |
|
|
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'- TCTATGCGAAGGGGAAGCTC -3'
(R):5'- AGTCCATATCCCCTGCGTATTG -3'
Sequencing Primer
(F):5'- GCTCACTGGGCAAGAGG -3'
(R):5'- CTGCCTGAGTTCTGTGTCATGATC -3'
|
| Posted On |
2016-04-19 |
Incidental Mutation