Incidental Mutation 'IGL02059:Csf3r'
ID |
185351 |
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: 0.421)
|
Stock # |
IGL02059
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
125918343-125938233 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 125925920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 168
(C168*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030673]
[ENSMUST00000106162]
|
AlphaFold |
P40223 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030673
AA Change: C168*
|
SMART Domains |
Protein: ENSMUSP00000030673 Gene: ENSMUSG00000028859 AA Change: C168*
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
AA Change: C168*
|
SMART Domains |
Protein: ENSMUSP00000101768 Gene: ENSMUSG00000028859 AA Change: C168*
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
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
C |
11: 110,051,220 (GRCm39) |
|
probably benign |
Het |
Anks1 |
A |
G |
17: 28,227,020 (GRCm39) |
M558V |
possibly damaging |
Het |
Arhgef1 |
T |
A |
7: 24,611,977 (GRCm39) |
|
probably benign |
Het |
Atad3a |
G |
A |
4: 155,839,207 (GRCm39) |
|
probably benign |
Het |
Bhmt2 |
A |
G |
13: 93,803,171 (GRCm39) |
Y121H |
probably benign |
Het |
Cbx5 |
A |
G |
15: 103,108,192 (GRCm39) |
V151A |
probably damaging |
Het |
Copa |
T |
A |
1: 171,927,320 (GRCm39) |
I231N |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,963,784 (GRCm39) |
I1723N |
probably damaging |
Het |
Epb42 |
G |
A |
2: 120,855,188 (GRCm39) |
P466S |
probably damaging |
Het |
Fem1b |
C |
T |
9: 62,703,446 (GRCm39) |
V605I |
possibly damaging |
Het |
Gclc |
T |
G |
9: 77,695,098 (GRCm39) |
S403A |
probably damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,858 (GRCm39) |
V303D |
possibly damaging |
Het |
Gprin3 |
C |
A |
6: 59,332,310 (GRCm39) |
|
probably benign |
Het |
Grik1 |
T |
A |
16: 87,852,937 (GRCm39) |
Q82L |
possibly damaging |
Het |
Hacl1 |
T |
C |
14: 31,354,891 (GRCm39) |
N118D |
probably benign |
Het |
Hdac9 |
A |
G |
12: 34,481,967 (GRCm39) |
V146A |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,160,621 (GRCm39) |
F763L |
probably benign |
Het |
Impg2 |
C |
T |
16: 56,080,335 (GRCm39) |
S713L |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,347,872 (GRCm39) |
M748K |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
Kyat1 |
T |
C |
2: 30,075,565 (GRCm39) |
Q359R |
probably benign |
Het |
Mtmr4 |
A |
G |
11: 87,491,950 (GRCm39) |
N206S |
possibly damaging |
Het |
Nos3 |
T |
C |
5: 24,573,996 (GRCm39) |
I227T |
probably damaging |
Het |
Or52e2 |
T |
C |
7: 102,804,310 (GRCm39) |
I215V |
probably benign |
Het |
Pde1a |
A |
T |
2: 79,727,421 (GRCm39) |
H169Q |
possibly damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,799,781 (GRCm39) |
D665E |
probably damaging |
Het |
Prickle4 |
G |
T |
17: 48,001,174 (GRCm39) |
L131M |
probably damaging |
Het |
Prl6a1 |
T |
A |
13: 27,499,348 (GRCm39) |
Y39N |
probably benign |
Het |
Slco6d1 |
T |
C |
1: 98,374,531 (GRCm39) |
V350A |
possibly damaging |
Het |
Srsf7 |
T |
A |
17: 80,510,121 (GRCm39) |
S209C |
probably null |
Het |
Syde2 |
C |
T |
3: 145,707,927 (GRCm39) |
A622V |
possibly damaging |
Het |
Ugt1a6a |
T |
A |
1: 88,066,403 (GRCm39) |
S70T |
possibly damaging |
Het |
Vmn2r39 |
T |
C |
7: 9,026,643 (GRCm39) |
I453V |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,978,862 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
G |
T |
18: 5,766,892 (GRCm39) |
V468F |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,316,933 (GRCm39) |
V493D |
probably damaging |
Het |
|
Other mutations in Csf3r |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2014-05-07 |