Incidental Mutation 'R4373:Csf1'
| ID |
386380 |
| 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 |
041675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.645)
|
| Stock # |
R4373 (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: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (54/55) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
| Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
| Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
| Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
| Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
| Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
| Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
| H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,297,489 (GRCm39) |
F184S |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Mtcl1 |
T |
A |
17: 66,687,074 (GRCm39) |
T611S |
probably benign |
Het |
| Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
| Nfib |
A |
G |
4: 82,241,895 (GRCm39) |
V432A |
probably damaging |
Het |
| Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
| Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
| Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
| Prdm8 |
T |
C |
5: 98,334,367 (GRCm39) |
S645P |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
T |
11: 23,565,265 (GRCm39) |
|
probably null |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
| Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
| Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
| Xpo4 |
G |
A |
14: 57,828,479 (GRCm39) |
Q794* |
probably null |
Het |
| Zfp112 |
T |
A |
7: 23,824,473 (GRCm39) |
I147N |
probably 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 |
|
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 |
|
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'- TGGAAGCCTCTCTTTGACTCTG -3'
(R):5'- GCTCTGGGTTAACCTCAGAAG -3'
Sequencing Primer
(F):5'- TCTTTGACTCTGCCTTCTGG -3'
(R):5'- CTCTGGGTTAACCTCAGAAGAGTTC -3'
|
| Posted On |
2016-05-20 |
Incidental Mutation