Incidental Mutation 'IGL02558:Csf3r'
ID |
298407 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csf3r
|
Ensembl Gene |
ENSMUSG00000028859 |
Gene Name |
colony stimulating factor 3 receptor |
Synonyms |
Csfgr, G-CSFR, Cd114 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.364)
|
Stock # |
IGL02558
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
125918343-125938233 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 125931928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030673]
[ENSMUST00000106162]
|
AlphaFold |
P40223 |
Predicted Effect |
probably benign
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 benign
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: ENSMUST00000140426
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
C |
5: 3,632,194 (GRCm39) |
*25C |
probably null |
Het |
Abca13 |
T |
C |
11: 9,349,387 (GRCm39) |
Y3654H |
probably damaging |
Het |
Ankle1 |
T |
C |
8: 71,861,636 (GRCm39) |
F438S |
probably damaging |
Het |
Atp10a |
A |
T |
7: 58,469,390 (GRCm39) |
R1080S |
probably damaging |
Het |
Ccdc51 |
A |
T |
9: 108,921,252 (GRCm39) |
N380Y |
probably damaging |
Het |
Ccr8 |
A |
T |
9: 119,923,724 (GRCm39) |
I280F |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,107,786 (GRCm39) |
T535A |
probably benign |
Het |
Cep162 |
G |
T |
9: 87,107,779 (GRCm39) |
T537N |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,844,964 (GRCm39) |
D35G |
probably benign |
Het |
Cmip |
G |
A |
8: 118,175,827 (GRCm39) |
S530N |
probably damaging |
Het |
Col9a3 |
A |
T |
2: 180,248,599 (GRCm39) |
|
probably null |
Het |
Csk |
C |
T |
9: 57,537,546 (GRCm39) |
E123K |
probably benign |
Het |
Csrnp3 |
G |
A |
2: 65,852,573 (GRCm39) |
E322K |
probably damaging |
Het |
Ddx11 |
A |
T |
17: 66,455,667 (GRCm39) |
I663F |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,996,336 (GRCm39) |
M2667L |
possibly damaging |
Het |
Foxred1 |
T |
C |
9: 35,121,429 (GRCm39) |
K40E |
probably damaging |
Het |
Gata2 |
C |
T |
6: 88,176,762 (GRCm39) |
P74S |
probably benign |
Het |
Gdf10 |
T |
G |
14: 33,645,937 (GRCm39) |
C29G |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,482,848 (GRCm39) |
E3133G |
probably benign |
Het |
Ints8 |
G |
A |
4: 11,218,771 (GRCm39) |
R784W |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 102,982,144 (GRCm39) |
E1392G |
probably damaging |
Het |
Muc19 |
T |
C |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
Myom2 |
A |
T |
8: 15,164,237 (GRCm39) |
D1044V |
probably benign |
Het |
Nphp4 |
G |
T |
4: 152,639,988 (GRCm39) |
R958L |
probably damaging |
Het |
Nup205 |
C |
T |
6: 35,166,859 (GRCm39) |
P293S |
probably damaging |
Het |
Or10ag60 |
T |
C |
2: 87,437,903 (GRCm39) |
I57T |
probably benign |
Het |
Or1e17 |
A |
T |
11: 73,831,651 (GRCm39) |
H193L |
probably benign |
Het |
Plxdc2 |
A |
G |
2: 16,674,409 (GRCm39) |
|
probably benign |
Het |
Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
Siglec1 |
G |
T |
2: 130,916,915 (GRCm39) |
S1113R |
possibly damaging |
Het |
Sirpa |
A |
G |
2: 129,471,989 (GRCm39) |
E472G |
probably damaging |
Het |
Slc39a4 |
G |
T |
15: 76,498,403 (GRCm39) |
L345M |
probably damaging |
Het |
Snx27 |
C |
T |
3: 94,410,188 (GRCm39) |
R496Q |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,527,388 (GRCm39) |
H1215R |
possibly damaging |
Het |
Stau1 |
A |
G |
2: 166,792,768 (GRCm39) |
Y371H |
probably benign |
Het |
Sult2a1 |
A |
C |
7: 13,566,520 (GRCm39) |
W152G |
probably benign |
Het |
Syt16 |
A |
T |
12: 74,281,832 (GRCm39) |
K319* |
probably null |
Het |
Tcf7 |
T |
A |
11: 52,144,797 (GRCm39) |
|
probably benign |
Het |
Tfdp1 |
A |
G |
8: 13,419,546 (GRCm39) |
N92D |
possibly damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
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 |
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 |
|
R5111:Csf3r
|
UTSW |
4 |
125,923,861 (GRCm39) |
splice site |
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 |
|
Posted On |
2015-04-16 |