Incidental Mutation 'R5763:Siglecf'
ID |
446117 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Siglecf
|
Ensembl Gene |
ENSMUSG00000039013 |
Gene Name |
sialic acid binding Ig-like lectin F |
Synonyms |
mSiglec-F, Siglec5 |
MMRRC Submission |
043364-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
43000765-43008955 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 43005744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 434
(K434*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012798]
[ENSMUST00000121494]
[ENSMUST00000122423]
[ENSMUST00000206299]
|
AlphaFold |
Q920G3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000012798
AA Change: K468*
|
SMART Domains |
Protein: ENSMUSP00000012798 Gene: ENSMUSG00000039013 AA Change: K468*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
25 |
131 |
6.07e-3 |
SMART |
IG_like
|
142 |
226 |
4.91e1 |
SMART |
IGc2
|
256 |
315 |
8.7e-13 |
SMART |
transmembrane domain
|
440 |
462 |
N/A |
INTRINSIC |
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121494
AA Change: K468*
|
SMART Domains |
Protein: ENSMUSP00000112583 Gene: ENSMUSG00000039013 AA Change: K468*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
25 |
131 |
6.07e-3 |
SMART |
IG_like
|
142 |
226 |
4.91e1 |
SMART |
IGc2
|
256 |
315 |
8.7e-13 |
SMART |
Pfam:Ig_2
|
329 |
421 |
2.4e-3 |
PFAM |
transmembrane domain
|
440 |
462 |
N/A |
INTRINSIC |
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122423
AA Change: K468*
|
SMART Domains |
Protein: ENSMUSP00000113245 Gene: ENSMUSG00000039013 AA Change: K468*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
25 |
131 |
6.07e-3 |
SMART |
IG_like
|
142 |
226 |
4.91e1 |
SMART |
IGc2
|
256 |
315 |
8.7e-13 |
SMART |
Pfam:Ig_2
|
329 |
421 |
5.1e-4 |
PFAM |
transmembrane domain
|
440 |
462 |
N/A |
INTRINSIC |
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145867
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206299
AA Change: K434*
|
Meta Mutation Damage Score |
0.9712 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (70/72) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased lung inflammation in response to ovalbumin challenge with increased eosinophils, delayed eosinophil resolution and impaired eosinophil apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
A |
G |
1: 130,670,768 (GRCm39) |
H330R |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Actl6b |
T |
A |
5: 137,565,063 (GRCm39) |
L314Q |
possibly damaging |
Het |
Adam22 |
A |
T |
5: 8,184,544 (GRCm39) |
C483S |
probably damaging |
Het |
Adamts7 |
T |
A |
9: 90,070,462 (GRCm39) |
L601H |
probably damaging |
Het |
Agl |
A |
T |
3: 116,547,009 (GRCm39) |
D1280E |
probably damaging |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Astn2 |
T |
A |
4: 65,647,568 (GRCm39) |
M757L |
probably benign |
Het |
Atr |
A |
G |
9: 95,827,176 (GRCm39) |
M2407V |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,471,471 (GRCm39) |
F2283L |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,835,043 (GRCm39) |
Y940* |
probably null |
Het |
Camk2g |
A |
T |
14: 20,789,415 (GRCm39) |
N218K |
probably damaging |
Het |
Ces2a |
C |
T |
8: 105,462,756 (GRCm39) |
P115L |
probably benign |
Het |
Col11a1 |
T |
C |
3: 113,888,245 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,515,682 (GRCm39) |
D150E |
unknown |
Het |
Crybg3 |
A |
G |
16: 59,374,973 (GRCm39) |
S2094P |
possibly damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,414,298 (GRCm39) |
N916D |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,673 (GRCm39) |
F593L |
probably damaging |
Het |
Dhx16 |
G |
A |
17: 36,192,580 (GRCm39) |
E171K |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,311,298 (GRCm39) |
I1759T |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,846,065 (GRCm39) |
S2991I |
probably damaging |
Het |
Entpd7 |
G |
T |
19: 43,692,705 (GRCm39) |
V87L |
probably damaging |
Het |
Fam221a |
T |
G |
6: 49,355,518 (GRCm39) |
L207V |
probably damaging |
Het |
Foxm1 |
T |
A |
6: 128,343,071 (GRCm39) |
I135N |
probably benign |
Het |
Gabpa |
C |
A |
16: 84,657,297 (GRCm39) |
Q391K |
possibly damaging |
Het |
Gipr |
T |
A |
7: 18,897,475 (GRCm39) |
H111L |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,270,501 (GRCm39) |
D737G |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,639,872 (GRCm39) |
N995K |
probably damaging |
Het |
Ldha |
G |
A |
7: 46,497,213 (GRCm39) |
|
probably benign |
Het |
Lrrc37 |
G |
A |
11: 103,504,469 (GRCm39) |
P324S |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,314,997 (GRCm39) |
E88G |
probably damaging |
Het |
Mical2 |
G |
A |
7: 111,973,861 (GRCm39) |
|
probably null |
Het |
Mill1 |
T |
A |
7: 17,979,587 (GRCm39) |
V18E |
probably benign |
Het |
Mrgpra3 |
A |
T |
7: 47,239,355 (GRCm39) |
C190* |
probably null |
Het |
Nog |
C |
T |
11: 89,192,291 (GRCm39) |
V186M |
probably damaging |
Het |
Nrxn2 |
T |
C |
19: 6,581,369 (GRCm39) |
F392L |
probably benign |
Het |
Or11h7 |
T |
C |
14: 50,891,525 (GRCm39) |
I277T |
possibly damaging |
Het |
Or12j3 |
T |
A |
7: 139,953,568 (GRCm39) |
|
probably null |
Het |
Or1e33 |
T |
A |
11: 73,738,693 (GRCm39) |
Q86L |
probably benign |
Het |
Or4a79 |
T |
A |
2: 89,552,372 (GRCm39) |
M28L |
probably benign |
Het |
Or7c74 |
T |
C |
2: 37,161,025 (GRCm39) |
|
noncoding transcript |
Het |
Phyhd1 |
T |
A |
2: 30,169,983 (GRCm39) |
D158E |
probably damaging |
Het |
Pik3r4 |
G |
T |
9: 105,546,974 (GRCm39) |
K917N |
probably benign |
Het |
Pnma1 |
A |
G |
12: 84,194,124 (GRCm39) |
V193A |
possibly damaging |
Het |
Podxl2 |
T |
C |
6: 88,826,805 (GRCm39) |
E167G |
probably damaging |
Het |
Prss50 |
A |
T |
9: 110,691,517 (GRCm39) |
K82* |
probably null |
Het |
Qsox1 |
A |
G |
1: 155,655,625 (GRCm39) |
S513P |
probably benign |
Het |
Rheb |
A |
G |
5: 25,012,785 (GRCm39) |
V98A |
probably benign |
Het |
Rhoj |
A |
G |
12: 75,438,606 (GRCm39) |
I131V |
probably benign |
Het |
Rsph4a |
A |
T |
10: 33,781,684 (GRCm39) |
D178V |
probably damaging |
Het |
Setd2 |
T |
G |
9: 110,385,343 (GRCm39) |
|
probably null |
Het |
Slc14a1 |
T |
C |
18: 78,159,629 (GRCm39) |
Y88C |
probably benign |
Het |
Snx15 |
T |
C |
19: 6,172,140 (GRCm39) |
E89G |
probably damaging |
Het |
Son |
C |
T |
16: 91,454,378 (GRCm39) |
R1042C |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Suz12 |
C |
A |
11: 79,916,134 (GRCm39) |
Y457* |
probably null |
Het |
Tet1 |
T |
A |
10: 62,675,847 (GRCm39) |
N743I |
probably damaging |
Het |
Tmc6 |
A |
G |
11: 117,660,259 (GRCm39) |
F660L |
possibly damaging |
Het |
Tnpo1 |
A |
C |
13: 98,996,445 (GRCm39) |
I452S |
possibly damaging |
Het |
Trav4-3 |
G |
T |
14: 53,836,844 (GRCm39) |
G103V |
probably damaging |
Het |
Ubap2 |
T |
C |
4: 41,195,809 (GRCm39) |
K994E |
probably damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,363,724 (GRCm39) |
T731A |
possibly damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,905,231 (GRCm39) |
I203L |
probably benign |
Het |
Zfp663 |
G |
T |
2: 165,200,355 (GRCm39) |
S75* |
probably null |
Het |
Zik1 |
G |
T |
7: 10,226,293 (GRCm39) |
H25N |
probably benign |
Het |
|
Other mutations in Siglecf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01306:Siglecf
|
APN |
7 |
43,001,377 (GRCm39) |
nonsense |
probably null |
|
IGL01350:Siglecf
|
APN |
7 |
43,005,319 (GRCm39) |
intron |
probably benign |
|
IGL01458:Siglecf
|
APN |
7 |
43,004,562 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01582:Siglecf
|
APN |
7 |
43,008,145 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02347:Siglecf
|
APN |
7 |
43,001,145 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02530:Siglecf
|
APN |
7 |
43,001,634 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02700:Siglecf
|
APN |
7 |
43,001,802 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03093:Siglecf
|
APN |
7 |
43,001,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03178:Siglecf
|
APN |
7 |
43,008,163 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03280:Siglecf
|
APN |
7 |
43,005,354 (GRCm39) |
missense |
probably benign |
0.04 |
ANU23:Siglecf
|
UTSW |
7 |
43,001,377 (GRCm39) |
nonsense |
probably null |
|
R0003:Siglecf
|
UTSW |
7 |
43,005,350 (GRCm39) |
missense |
probably benign |
|
R0025:Siglecf
|
UTSW |
7 |
43,001,349 (GRCm39) |
missense |
probably benign |
0.29 |
R0304:Siglecf
|
UTSW |
7 |
43,001,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R0345:Siglecf
|
UTSW |
7 |
43,001,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Siglecf
|
UTSW |
7 |
43,005,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R0515:Siglecf
|
UTSW |
7 |
43,005,055 (GRCm39) |
critical splice donor site |
probably null |
|
R1296:Siglecf
|
UTSW |
7 |
43,005,344 (GRCm39) |
nonsense |
probably null |
|
R1861:Siglecf
|
UTSW |
7 |
43,004,967 (GRCm39) |
missense |
probably benign |
0.01 |
R1861:Siglecf
|
UTSW |
7 |
43,001,648 (GRCm39) |
missense |
probably benign |
0.00 |
R1869:Siglecf
|
UTSW |
7 |
43,004,967 (GRCm39) |
missense |
probably benign |
0.01 |
R1870:Siglecf
|
UTSW |
7 |
43,004,967 (GRCm39) |
missense |
probably benign |
0.01 |
R1871:Siglecf
|
UTSW |
7 |
43,004,967 (GRCm39) |
missense |
probably benign |
0.01 |
R2063:Siglecf
|
UTSW |
7 |
43,001,804 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2176:Siglecf
|
UTSW |
7 |
43,001,140 (GRCm39) |
missense |
probably damaging |
0.98 |
R2237:Siglecf
|
UTSW |
7 |
43,004,409 (GRCm39) |
missense |
probably benign |
0.06 |
R4023:Siglecf
|
UTSW |
7 |
43,004,995 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4498:Siglecf
|
UTSW |
7 |
43,001,700 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4664:Siglecf
|
UTSW |
7 |
43,005,837 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5227:Siglecf
|
UTSW |
7 |
43,001,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R5315:Siglecf
|
UTSW |
7 |
43,004,532 (GRCm39) |
missense |
probably benign |
0.01 |
R5828:Siglecf
|
UTSW |
7 |
43,001,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5871:Siglecf
|
UTSW |
7 |
43,005,045 (GRCm39) |
missense |
probably benign |
0.04 |
R5952:Siglecf
|
UTSW |
7 |
43,005,351 (GRCm39) |
missense |
probably benign |
0.00 |
R6054:Siglecf
|
UTSW |
7 |
43,004,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R6537:Siglecf
|
UTSW |
7 |
43,005,423 (GRCm39) |
missense |
probably benign |
|
R6854:Siglecf
|
UTSW |
7 |
43,001,604 (GRCm39) |
missense |
probably benign |
0.00 |
R6875:Siglecf
|
UTSW |
7 |
43,004,624 (GRCm39) |
missense |
probably benign |
0.04 |
R7328:Siglecf
|
UTSW |
7 |
43,001,691 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7329:Siglecf
|
UTSW |
7 |
43,001,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R7356:Siglecf
|
UTSW |
7 |
43,005,855 (GRCm39) |
missense |
probably benign |
0.00 |
R7369:Siglecf
|
UTSW |
7 |
43,001,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R7659:Siglecf
|
UTSW |
7 |
43,001,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R7984:Siglecf
|
UTSW |
7 |
43,004,655 (GRCm39) |
splice site |
probably null |
|
R8074:Siglecf
|
UTSW |
7 |
43,001,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8411:Siglecf
|
UTSW |
7 |
43,001,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R8686:Siglecf
|
UTSW |
7 |
43,005,030 (GRCm39) |
missense |
probably benign |
0.31 |
R8724:Siglecf
|
UTSW |
7 |
43,004,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R8962:Siglecf
|
UTSW |
7 |
43,001,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R9480:Siglecf
|
UTSW |
7 |
43,001,666 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9572:Siglecf
|
UTSW |
7 |
43,002,058 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9592:Siglecf
|
UTSW |
7 |
43,001,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGATCCCCATCCACTGAGG -3'
(R):5'- TGGGCAAATACCTGTAGCAG -3'
Sequencing Primer
(F):5'- CCACTGAGGGTCTTTAATACACAGAG -3'
(R):5'- AAATGTCAGGTCCCCAGCCTG -3'
|
Posted On |
2016-11-21 |