Incidental Mutation 'R4377:Csf1'
| ID |
371056 |
| 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 |
041676-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R4377 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107648364-107667785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107664055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 38
(T38S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014743]
[ENSMUST00000118593]
[ENSMUST00000120243]
[ENSMUST00000153114]
|
| AlphaFold |
P07141 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014743
AA Change: T14S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: T14S
| 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: T14S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599
AA Change: T14S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
1 |
257 |
9.5e-123 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120243
AA Change: T14S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: T14S
| 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 damaging
Transcript: ENSMUST00000153114
AA Change: T38S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115480
Gene: ENSMUSG00000014599
AA Change: T38S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSF-1
|
26 |
182 |
1.1e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155557
|
| Meta Mutation Damage Score |
0.3270 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (57/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
A |
G |
14: 33,091,467 (GRCm39) |
M681V |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,108,196 (GRCm39) |
C384R |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,941,877 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cenpp |
A |
G |
13: 49,647,907 (GRCm39) |
|
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,923,680 (GRCm39) |
V12A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Frmd3 |
T |
A |
4: 74,046,535 (GRCm39) |
|
probably null |
Het |
| Gart |
G |
A |
16: 91,430,982 (GRCm39) |
A360V |
probably benign |
Het |
| Gm7251 |
T |
A |
13: 49,958,676 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,927,453 (GRCm39) |
Y981C |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,493,202 (GRCm39) |
C107Y |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,379,082 (GRCm39) |
V138M |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,903,253 (GRCm39) |
E263G |
possibly damaging |
Het |
| Mark2 |
T |
C |
19: 7,268,054 (GRCm39) |
I50V |
possibly damaging |
Het |
| Mug2 |
G |
T |
6: 122,047,966 (GRCm39) |
|
probably null |
Het |
| Mvk |
A |
G |
5: 114,591,022 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,355,786 (GRCm39) |
I229T |
possibly damaging |
Het |
| Napb |
A |
C |
2: 148,574,184 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
T |
G |
2: 165,896,417 (GRCm39) |
L440R |
possibly damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,103 (GRCm39) |
F193L |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,525,191 (GRCm39) |
Y376H |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 137,995,663 (GRCm39) |
M982K |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,357,264 (GRCm39) |
F252I |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,037 (GRCm39) |
V188A |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,570,421 (GRCm39) |
S1300P |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,997,589 (GRCm39) |
H1104Q |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,093,715 (GRCm39) |
T143A |
possibly damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfp583 |
A |
G |
7: 6,320,680 (GRCm39) |
S111P |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
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 |
|
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 |
|
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'- GGAAGCCTCTCTTTGACTCTGC -3'
(R):5'- GCTCTGGGTTAACCTCAGAAG -3'
Sequencing Primer
(F):5'- CCTTCTGGCTTGCTACCTCAG -3'
(R):5'- CTCTGGGTTAACCTCAGAAGAGTTC -3'
|
| Posted On |
2016-02-10 |
Incidental Mutation