Incidental Mutation 'R4374:Csf1r'
| ID |
325052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csf1r
|
| Ensembl Gene |
ENSMUSG00000024621 |
| Gene Name |
colony stimulating factor 1 receptor |
| Synonyms |
Csfmr, Fms, CSF-1R, Fim2, Fim-2, M-CSFR, CD115 |
| MMRRC Submission |
041118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R4374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61238644-61264211 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61252078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 520
(C520Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025523]
[ENSMUST00000115268]
|
| AlphaFold |
P09581 |
| PDB Structure |
Structure of M-CSF bound to the first three domains of FMS [X-RAY DIFFRACTION]
Structure of mouse Interleukin-34 in complex with mouse FMS [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025523
AA Change: C520Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: C520Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
102 |
4.63e-8 |
SMART |
|
IG
|
112 |
196 |
7.82e-6 |
SMART |
|
IGc2
|
215 |
285 |
1.36e-5 |
SMART |
|
IG
|
308 |
397 |
3.2e-2 |
SMART |
|
IG_like
|
402 |
504 |
1.8e2 |
SMART |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
TyrKc
|
580 |
908 |
1.45e-134 |
SMART |
|
low complexity region
|
926 |
954 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115268
AA Change: C520Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: C520Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
102 |
4.63e-8 |
SMART |
|
IG
|
112 |
196 |
7.82e-6 |
SMART |
|
IGc2
|
215 |
285 |
1.36e-5 |
SMART |
|
IG
|
308 |
397 |
3.2e-2 |
SMART |
|
IG_like
|
402 |
504 |
1.8e2 |
SMART |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
TyrKc
|
580 |
908 |
1.45e-134 |
SMART |
|
low complexity region
|
926 |
954 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183458
|
| Meta Mutation Damage Score |
0.2470 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (38/39) |
| 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 the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 78,973,278 (GRCm39) |
M86V |
probably benign |
Het |
| Acin1 |
C |
A |
14: 54,891,351 (GRCm39) |
|
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,599,984 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,258,732 (GRCm39) |
E452G |
probably damaging |
Het |
| Amz1 |
T |
C |
5: 140,738,194 (GRCm39) |
S184P |
possibly damaging |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,875,986 (GRCm39) |
L295* |
probably null |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cpsf7 |
A |
T |
19: 10,517,001 (GRCm39) |
I368F |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fktn |
T |
C |
4: 53,720,201 (GRCm39) |
S72P |
probably damaging |
Het |
| Frem2 |
C |
A |
3: 53,452,923 (GRCm39) |
V2189F |
possibly damaging |
Het |
| Gm10845 |
G |
T |
14: 80,100,563 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,111,513 (GRCm39) |
M2255V |
probably benign |
Het |
| Lrsam1 |
G |
T |
2: 32,845,203 (GRCm39) |
T104K |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Myo7a |
G |
A |
7: 97,751,881 (GRCm39) |
T54M |
probably damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or5k15 |
A |
C |
16: 58,710,242 (GRCm39) |
C114G |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,671,025 (GRCm39) |
S135P |
probably damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,476,686 (GRCm39) |
T260I |
possibly damaging |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Ppp6r2 |
T |
G |
15: 89,149,361 (GRCm39) |
C216W |
probably damaging |
Het |
| Pramel7 |
C |
T |
2: 87,320,415 (GRCm39) |
A293T |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
| Sh2b3 |
G |
T |
5: 121,966,549 (GRCm39) |
|
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,130,617 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,153,151 (GRCm39) |
E401G |
possibly damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,589 (GRCm39) |
Y308H |
probably damaging |
Het |
| Zfp112 |
C |
T |
7: 23,825,798 (GRCm39) |
H589Y |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably damaging |
Het |
|
| Other mutations in Csf1r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01403:Csf1r
|
APN |
18 |
61,247,897 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01603:Csf1r
|
APN |
18 |
61,262,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Csf1r
|
APN |
18 |
61,257,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL03000:Csf1r
|
APN |
18 |
61,242,724 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03011:Csf1r
|
APN |
18 |
61,243,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03132:Csf1r
|
APN |
18 |
61,261,171 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03189:Csf1r
|
APN |
18 |
61,239,058 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03224:Csf1r
|
APN |
18 |
61,245,134 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03351:Csf1r
|
APN |
18 |
61,250,180 (GRCm39) |
nonsense |
probably null |
|
|
ANU74:Csf1r
|
UTSW |
18 |
61,250,463 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1245:Csf1r
|
UTSW |
18 |
61,247,884 (GRCm39) |
missense |
probably benign |
|
|
R1363:Csf1r
|
UTSW |
18 |
61,257,917 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1651:Csf1r
|
UTSW |
18 |
61,243,473 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1785:Csf1r
|
UTSW |
18 |
61,262,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1786:Csf1r
|
UTSW |
18 |
61,262,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1902:Csf1r
|
UTSW |
18 |
61,263,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1968:Csf1r
|
UTSW |
18 |
61,245,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2177:Csf1r
|
UTSW |
18 |
61,248,015 (GRCm39) |
splice site |
probably benign |
|
|
R3743:Csf1r
|
UTSW |
18 |
61,247,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3809:Csf1r
|
UTSW |
18 |
61,245,836 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4683:Csf1r
|
UTSW |
18 |
61,257,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Csf1r
|
UTSW |
18 |
61,262,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5080:Csf1r
|
UTSW |
18 |
61,257,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Csf1r
|
UTSW |
18 |
61,262,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Csf1r
|
UTSW |
18 |
61,258,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6015:Csf1r
|
UTSW |
18 |
61,242,784 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6227:Csf1r
|
UTSW |
18 |
61,258,900 (GRCm39) |
nonsense |
probably null |
|
|
R6505:Csf1r
|
UTSW |
18 |
61,262,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6602:Csf1r
|
UTSW |
18 |
61,243,497 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6811:Csf1r
|
UTSW |
18 |
61,252,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Csf1r
|
UTSW |
18 |
61,245,806 (GRCm39) |
missense |
probably benign |
|
|
R7218:Csf1r
|
UTSW |
18 |
61,263,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Csf1r
|
UTSW |
18 |
61,250,610 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7752:Csf1r
|
UTSW |
18 |
61,243,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Csf1r
|
UTSW |
18 |
61,243,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7901:Csf1r
|
UTSW |
18 |
61,243,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7953:Csf1r
|
UTSW |
18 |
61,257,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Csf1r
|
UTSW |
18 |
61,247,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8012:Csf1r
|
UTSW |
18 |
61,250,136 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8043:Csf1r
|
UTSW |
18 |
61,257,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Csf1r
|
UTSW |
18 |
61,250,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Csf1r
|
UTSW |
18 |
61,261,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Csf1r
|
UTSW |
18 |
61,250,663 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8421:Csf1r
|
UTSW |
18 |
61,260,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Csf1r
|
UTSW |
18 |
61,247,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8726:Csf1r
|
UTSW |
18 |
61,250,728 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8786:Csf1r
|
UTSW |
18 |
61,247,942 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9262:Csf1r
|
UTSW |
18 |
61,243,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9555:Csf1r
|
UTSW |
18 |
61,243,473 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9627:Csf1r
|
UTSW |
18 |
61,260,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9778:Csf1r
|
UTSW |
18 |
61,260,957 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGGTCTTTCTGCCCACAAG -3'
(R):5'- CTTGGTGTCAGCCCATGTTG -3'
Sequencing Primer
(F):5'- CAAGGGGGAGTGATAACGCC -3'
(R):5'- TCAGCCCATGTTGACACACAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation