Incidental Mutation 'R6268:Csf1'
ID |
507138 |
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 |
044439-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.665)
|
Stock # |
R6268 (G1)
|
Quality Score |
217.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 107654473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 132
(S132R)
|
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: S521R
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000014743 Gene: ENSMUSG00000014599 AA Change: S521R
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: S226R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113136 Gene: ENSMUSG00000014599 AA Change: S226R
Domain | Start | End | E-Value | Type |
Pfam:CSF-1
|
1 |
257 |
9.5e-123 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120243
AA Change: S521R
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113617 Gene: ENSMUSG00000014599 AA Change: S521R
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: ENSMUST00000120654
AA Change: S132R
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112832 Gene: ENSMUSG00000014599 AA Change: S132R
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 |
0.0911 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
99% (68/69) |
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 |
4921504E06Rik |
A |
G |
2: 19,545,219 (GRCm39) |
I78T |
probably benign |
Het |
Afg3l1 |
A |
T |
8: 124,219,665 (GRCm39) |
I398F |
probably damaging |
Het |
Ahctf1 |
T |
C |
1: 179,591,048 (GRCm39) |
H1244R |
probably benign |
Het |
Ank1 |
A |
T |
8: 23,599,687 (GRCm39) |
K797N |
probably damaging |
Het |
Anxa6 |
G |
T |
11: 54,877,903 (GRCm39) |
|
probably null |
Het |
Aoc1l1 |
T |
A |
6: 48,954,616 (GRCm39) |
Y585N |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,969,493 (GRCm39) |
V310E |
probably damaging |
Het |
C2cd2l |
T |
C |
9: 44,228,963 (GRCm39) |
I123V |
probably damaging |
Het |
Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
A |
10: 92,874,771 (GRCm39) |
I542F |
probably damaging |
Het |
Cfap57 |
G |
T |
4: 118,426,648 (GRCm39) |
Y1100* |
probably null |
Het |
Coq9 |
A |
G |
8: 95,576,862 (GRCm39) |
E158G |
probably benign |
Het |
Cox15 |
A |
T |
19: 43,728,365 (GRCm39) |
W303R |
possibly damaging |
Het |
Cpa5 |
A |
G |
6: 30,615,172 (GRCm39) |
Y103C |
probably damaging |
Het |
Crygn |
A |
T |
5: 24,961,189 (GRCm39) |
V39E |
probably damaging |
Het |
Dapk1 |
G |
A |
13: 60,909,580 (GRCm39) |
V1398M |
possibly damaging |
Het |
Degs2 |
C |
A |
12: 108,658,839 (GRCm39) |
V47L |
probably damaging |
Het |
Dock5 |
C |
A |
14: 68,027,724 (GRCm39) |
E1057* |
probably null |
Het |
Dsg1b |
C |
A |
18: 20,521,220 (GRCm39) |
Q26K |
probably benign |
Het |
Elp1 |
T |
C |
4: 56,762,305 (GRCm39) |
Y1098C |
probably damaging |
Het |
Fam181a |
T |
C |
12: 103,282,803 (GRCm39) |
V236A |
possibly damaging |
Het |
Fam78b |
C |
A |
1: 166,906,122 (GRCm39) |
P94T |
probably damaging |
Het |
Fbxw25 |
T |
G |
9: 109,483,718 (GRCm39) |
T165P |
probably damaging |
Het |
Flg |
C |
A |
3: 93,195,482 (GRCm39) |
|
probably benign |
Het |
Frrs1 |
G |
T |
3: 116,696,748 (GRCm39) |
V573F |
probably damaging |
Het |
Gm7298 |
A |
G |
6: 121,756,032 (GRCm39) |
T964A |
possibly damaging |
Het |
Hoxd9 |
G |
T |
2: 74,528,433 (GRCm39) |
V12L |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,793,609 (GRCm39) |
|
probably null |
Het |
Klhl3 |
G |
T |
13: 58,161,656 (GRCm39) |
R480S |
probably damaging |
Het |
Klhl36 |
A |
G |
8: 120,597,406 (GRCm39) |
D369G |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,657,794 (GRCm39) |
N303K |
probably damaging |
Het |
Lhcgr |
T |
C |
17: 89,050,132 (GRCm39) |
T465A |
probably damaging |
Het |
Llgl1 |
T |
C |
11: 60,602,989 (GRCm39) |
V888A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,711,729 (GRCm39) |
T3164S |
probably benign |
Het |
Mmp3 |
T |
G |
9: 7,447,622 (GRCm39) |
D202E |
possibly damaging |
Het |
Mocs1 |
C |
A |
17: 49,742,183 (GRCm39) |
T104K |
probably damaging |
Het |
Mrpl42 |
A |
T |
10: 95,332,569 (GRCm39) |
|
probably null |
Het |
Mtch2 |
T |
C |
2: 90,693,992 (GRCm39) |
C279R |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,589,141 (GRCm39) |
D2836V |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,226,741 (GRCm39) |
E370G |
probably benign |
Het |
Naa11 |
A |
G |
5: 97,540,069 (GRCm39) |
Y30H |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 109,842,351 (GRCm39) |
T141A |
probably damaging |
Het |
Or5h26 |
A |
C |
16: 58,987,656 (GRCm39) |
|
probably null |
Het |
Or8c11 |
T |
C |
9: 38,289,384 (GRCm39) |
I69T |
probably benign |
Het |
Or9i14 |
A |
T |
19: 13,792,671 (GRCm39) |
Y94* |
probably null |
Het |
Pcdha12 |
G |
A |
18: 37,155,477 (GRCm39) |
C732Y |
possibly damaging |
Het |
Plekhm2 |
G |
A |
4: 141,359,652 (GRCm39) |
Q392* |
probably null |
Het |
Prr22 |
G |
A |
17: 57,078,587 (GRCm39) |
V247M |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,540,073 (GRCm39) |
L716Q |
probably damaging |
Het |
Rasgrp4 |
G |
A |
7: 28,842,493 (GRCm39) |
V246I |
probably damaging |
Het |
Rhbdd2 |
C |
T |
5: 135,672,114 (GRCm39) |
T323I |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Scgb2b20 |
A |
T |
7: 33,063,973 (GRCm39) |
I99K |
possibly damaging |
Het |
Scyl3 |
C |
T |
1: 163,773,786 (GRCm39) |
R324* |
probably null |
Het |
Slc23a1 |
T |
C |
18: 35,752,624 (GRCm39) |
Y551C |
probably damaging |
Het |
Slc5a5 |
A |
T |
8: 71,341,264 (GRCm39) |
S358R |
probably damaging |
Het |
Sorcs3 |
T |
A |
19: 48,778,605 (GRCm39) |
N1007K |
probably damaging |
Het |
Stxbp4 |
T |
A |
11: 90,431,027 (GRCm39) |
K428* |
probably null |
Het |
Tmem63c |
T |
A |
12: 87,128,727 (GRCm39) |
I584N |
probably damaging |
Het |
Traf3ip3 |
C |
T |
1: 192,880,344 (GRCm39) |
|
probably benign |
Het |
Trgv2 |
G |
A |
13: 19,521,001 (GRCm39) |
T31I |
probably benign |
Het |
Ttll3 |
C |
T |
6: 113,369,524 (GRCm39) |
R23C |
probably benign |
Het |
Ugt2a3 |
A |
C |
5: 87,477,472 (GRCm39) |
L309R |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,550,807 (GRCm39) |
M2015T |
probably benign |
Het |
Vmn2r14 |
A |
C |
5: 109,369,283 (GRCm39) |
S97A |
possibly damaging |
Het |
Vps13c |
C |
A |
9: 67,858,731 (GRCm39) |
T2727K |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,846,067 (GRCm39) |
I40K |
probably damaging |
Het |
Zc3h11a |
A |
G |
1: 133,552,295 (GRCm39) |
V604A |
probably benign |
Het |
Zfp410 |
G |
A |
12: 84,378,612 (GRCm39) |
R259H |
probably benign |
Het |
Zfp748 |
A |
G |
13: 67,690,705 (GRCm39) |
V185A |
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 |
|
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 |
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'- AGCTCCACTGTCATGGGAAG -3'
(R):5'- GGGCCTATAGGTGGTATTCTACATG -3'
Sequencing Primer
(F):5'- AAGAAGAGGGGCCCTTCTTTC -3'
(R):5'- GGTATTCTACATGGGAGGGGAC -3'
|
Posted On |
2018-03-15 |