Incidental Mutation 'R4514:Csf3r'
| ID |
332781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csf3r
|
| Ensembl Gene |
ENSMUSG00000028859 |
| Gene Name |
colony stimulating factor 3 receptor |
| Synonyms |
Csfgr, G-CSFR, Cd114 |
| MMRRC Submission |
041588-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.421)
|
| Stock # |
R4514 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
125918343-125938233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125933653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 611
(S611T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030673]
[ENSMUST00000106162]
|
| AlphaFold |
P40223 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030673
AA Change: S611T
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859
AA Change: S611T
| 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 |
possibly damaging
Transcript: ENSMUST00000106162
AA Change: S611T
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859
AA Change: S611T
| 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 |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.1%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
G |
8: 25,308,152 (GRCm39) |
T51P |
probably damaging |
Het |
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 112,006,745 (GRCm39) |
T155S |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,404,339 (GRCm39) |
Q1334L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,968,518 (GRCm39) |
T1055M |
probably damaging |
Het |
| Cd3g |
C |
A |
9: 44,884,882 (GRCm39) |
A121S |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,378,046 (GRCm39) |
I618T |
probably benign |
Het |
| Cp |
A |
G |
3: 20,042,177 (GRCm39) |
M982V |
probably damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,997 (GRCm39) |
T168A |
unknown |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
| Defb34 |
A |
T |
8: 19,176,522 (GRCm39) |
D71V |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,623,573 (GRCm39) |
D3615E |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,666,709 (GRCm39) |
T167S |
probably damaging |
Het |
| F5 |
T |
A |
1: 163,979,566 (GRCm39) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,265 (GRCm39) |
T559A |
possibly damaging |
Het |
| Ifit1 |
A |
T |
19: 34,625,913 (GRCm39) |
R350* |
probably null |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,216 (GRCm39) |
N79S |
possibly damaging |
Het |
| Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,202 (GRCm39) |
T235A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,251 (GRCm39) |
I1081V |
probably benign |
Het |
| Lrrc8b |
G |
T |
5: 105,627,819 (GRCm39) |
C55F |
probably damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,160,402 (GRCm39) |
T311A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mocos |
T |
A |
18: 24,816,269 (GRCm39) |
S615R |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,146,395 (GRCm39) |
V1456A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,648,200 (GRCm39) |
I1759V |
probably benign |
Het |
| Nat8f5 |
G |
A |
6: 85,794,405 (GRCm39) |
T185I |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
| Ncam2 |
T |
A |
16: 81,309,884 (GRCm39) |
M458K |
probably benign |
Het |
| Nphp1 |
T |
C |
2: 127,590,007 (GRCm39) |
S532G |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
| Or4p22 |
T |
C |
2: 88,317,709 (GRCm39) |
V211A |
probably benign |
Het |
| Or52h2 |
C |
T |
7: 103,838,598 (GRCm39) |
R272H |
probably benign |
Het |
| Pask |
T |
A |
1: 93,249,855 (GRCm39) |
Q515L |
probably benign |
Het |
| Poglut1 |
A |
T |
16: 38,369,778 (GRCm39) |
F35I |
probably benign |
Het |
| Ppp1ca |
T |
G |
19: 4,245,054 (GRCm39) |
I319S |
probably benign |
Het |
| Psg25 |
T |
A |
7: 18,263,533 (GRCm39) |
R97* |
probably null |
Het |
| Sars2 |
T |
C |
7: 28,441,709 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,992 (GRCm39) |
F292L |
probably benign |
Het |
| Tmco5 |
T |
A |
2: 116,710,795 (GRCm39) |
D38E |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
| Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,977 (GRCm39) |
I662T |
possibly damaging |
Het |
| Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGGGTGTTCCTCGGC -3'
(R):5'- AGGTCCAAAGGTAGCTTCCTATTG -3'
Sequencing Primer
(F):5'- CACATACAGAGGTGTGTTAGCATCC -3'
(R):5'- ACTTATCGCCTTGAGAGAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation