Incidental Mutation 'R5111:Csf3r'
ID |
393847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csf3r
|
Ensembl Gene |
ENSMUSG00000028859 |
Gene Name |
colony stimulating factor 3 receptor |
Synonyms |
Csfgr, G-CSFR, Cd114 |
MMRRC Submission |
042699-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.421)
|
Stock # |
R5111 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
125918343-125938233 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 125923861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030673]
[ENSMUST00000030673]
[ENSMUST00000106162]
[ENSMUST00000106162]
|
AlphaFold |
P40223 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030673
|
SMART Domains |
Protein: ENSMUSP00000030673 Gene: ENSMUSG00000028859
Domain | Start | End | E-Value | Type |
Pfam:Lep_receptor_Ig
|
24 |
111 |
2.3e-30 |
PFAM |
FN3
|
124 |
213 |
5.38e1 |
SMART |
SCOP:d1cd9b2
|
226 |
332 |
3e-15 |
SMART |
Blast:FN3
|
334 |
420 |
3e-30 |
BLAST |
FN3
|
432 |
518 |
2.41e0 |
SMART |
FN3
|
530 |
612 |
1.92e-3 |
SMART |
transmembrane domain
|
627 |
649 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000030673
|
SMART Domains |
Protein: ENSMUSP00000030673 Gene: ENSMUSG00000028859
Domain | Start | End | E-Value | Type |
Pfam:Lep_receptor_Ig
|
24 |
111 |
2.3e-30 |
PFAM |
FN3
|
124 |
213 |
5.38e1 |
SMART |
SCOP:d1cd9b2
|
226 |
332 |
3e-15 |
SMART |
Blast:FN3
|
334 |
420 |
3e-30 |
BLAST |
FN3
|
432 |
518 |
2.41e0 |
SMART |
FN3
|
530 |
612 |
1.92e-3 |
SMART |
transmembrane domain
|
627 |
649 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106162
|
SMART Domains |
Protein: ENSMUSP00000101768 Gene: ENSMUSG00000028859
Domain | Start | End | E-Value | Type |
Pfam:Lep_receptor_Ig
|
22 |
112 |
6.8e-30 |
PFAM |
FN3
|
124 |
213 |
5.38e1 |
SMART |
SCOP:d1cd9b2
|
226 |
332 |
3e-15 |
SMART |
Blast:FN3
|
334 |
420 |
3e-30 |
BLAST |
FN3
|
432 |
518 |
2.41e0 |
SMART |
FN3
|
530 |
612 |
1.92e-3 |
SMART |
transmembrane domain
|
627 |
649 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106162
|
SMART Domains |
Protein: ENSMUSP00000101768 Gene: ENSMUSG00000028859
Domain | Start | End | E-Value | Type |
Pfam:Lep_receptor_Ig
|
22 |
112 |
6.8e-30 |
PFAM |
FN3
|
124 |
213 |
5.38e1 |
SMART |
SCOP:d1cd9b2
|
226 |
332 |
3e-15 |
SMART |
Blast:FN3
|
334 |
420 |
3e-30 |
BLAST |
FN3
|
432 |
518 |
2.41e0 |
SMART |
FN3
|
530 |
612 |
1.92e-3 |
SMART |
transmembrane domain
|
627 |
649 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153968
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
Validation Efficiency |
100% (56/56) |
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 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010] PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of peripheral neutrophils, with fewer hematopoietic progenitors in bone marrow and impaired expansion and terminal differentiation of progenitors into granulocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
Capns1 |
A |
G |
7: 29,891,944 (GRCm39) |
V106A |
probably benign |
Het |
Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,736,046 (GRCm39) |
Y485C |
possibly damaging |
Het |
Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
Fbxw16 |
T |
C |
9: 109,265,796 (GRCm39) |
D341G |
probably benign |
Het |
H2-Ab1 |
T |
A |
17: 34,486,456 (GRCm39) |
S172T |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
Kank3 |
A |
G |
17: 34,037,155 (GRCm39) |
E153G |
possibly damaging |
Het |
Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
Mdm2 |
A |
T |
10: 117,527,126 (GRCm39) |
V273D |
possibly damaging |
Het |
Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
Nusap1 |
T |
A |
2: 119,460,837 (GRCm39) |
L110* |
probably null |
Het |
Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,485,913 (GRCm39) |
M527K |
possibly damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Csf3r |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02059:Csf3r
|
APN |
4 |
125,925,920 (GRCm39) |
nonsense |
probably null |
|
IGL02224:Csf3r
|
APN |
4 |
125,937,332 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02558:Csf3r
|
APN |
4 |
125,931,928 (GRCm39) |
splice site |
probably benign |
|
R0026:Csf3r
|
UTSW |
4 |
125,925,677 (GRCm39) |
missense |
probably benign |
0.33 |
R0033:Csf3r
|
UTSW |
4 |
125,925,677 (GRCm39) |
missense |
probably benign |
0.33 |
R0033:Csf3r
|
UTSW |
4 |
125,925,677 (GRCm39) |
missense |
probably benign |
0.33 |
R0121:Csf3r
|
UTSW |
4 |
125,923,642 (GRCm39) |
missense |
probably benign |
0.01 |
R0413:Csf3r
|
UTSW |
4 |
125,933,460 (GRCm39) |
splice site |
probably benign |
|
R0456:Csf3r
|
UTSW |
4 |
125,929,654 (GRCm39) |
missense |
probably damaging |
0.98 |
R0479:Csf3r
|
UTSW |
4 |
125,937,616 (GRCm39) |
missense |
probably damaging |
0.98 |
R1052:Csf3r
|
UTSW |
4 |
125,936,781 (GRCm39) |
splice site |
probably null |
|
R1466:Csf3r
|
UTSW |
4 |
125,925,725 (GRCm39) |
splice site |
probably benign |
|
R1512:Csf3r
|
UTSW |
4 |
125,923,777 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1902:Csf3r
|
UTSW |
4 |
125,936,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1905:Csf3r
|
UTSW |
4 |
125,936,538 (GRCm39) |
missense |
probably benign |
0.12 |
R2520:Csf3r
|
UTSW |
4 |
125,929,145 (GRCm39) |
missense |
probably benign |
0.06 |
R3424:Csf3r
|
UTSW |
4 |
125,937,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R3705:Csf3r
|
UTSW |
4 |
125,926,078 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3907:Csf3r
|
UTSW |
4 |
125,928,240 (GRCm39) |
missense |
probably benign |
0.00 |
R4514:Csf3r
|
UTSW |
4 |
125,933,653 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4817:Csf3r
|
UTSW |
4 |
125,931,449 (GRCm39) |
nonsense |
probably null |
|
R5120:Csf3r
|
UTSW |
4 |
125,929,620 (GRCm39) |
missense |
probably benign |
0.00 |
R5308:Csf3r
|
UTSW |
4 |
125,929,137 (GRCm39) |
missense |
probably benign |
0.00 |
R5912:Csf3r
|
UTSW |
4 |
125,923,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R6018:Csf3r
|
UTSW |
4 |
125,937,414 (GRCm39) |
missense |
probably benign |
0.01 |
R6024:Csf3r
|
UTSW |
4 |
125,931,310 (GRCm39) |
splice site |
probably null |
|
R7144:Csf3r
|
UTSW |
4 |
125,937,515 (GRCm39) |
missense |
probably benign |
0.03 |
R7615:Csf3r
|
UTSW |
4 |
125,931,449 (GRCm39) |
nonsense |
probably null |
|
R7717:Csf3r
|
UTSW |
4 |
125,931,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R8443:Csf3r
|
UTSW |
4 |
125,923,712 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8935:Csf3r
|
UTSW |
4 |
125,937,200 (GRCm39) |
missense |
probably benign |
0.00 |
R9131:Csf3r
|
UTSW |
4 |
125,923,813 (GRCm39) |
missense |
probably benign |
|
R9383:Csf3r
|
UTSW |
4 |
125,937,239 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- TATGGAGACTGCAAGATGAGCC -3'
(R):5'- AGACAGGTGGTTGGCTCTAC -3'
Sequencing Primer
(F):5'- GATGAGCCCATCCAACCTGG -3'
(R):5'- TGGTTGGCTCTACAAGAACC -3'
|
Posted On |
2016-06-15 |