Incidental Mutation 'IGL01582:Siglecf'
ID |
91386 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Siglecf
|
Ensembl Gene |
ENSMUSG00000039013 |
Gene Name |
sialic acid binding Ig-like lectin F |
Synonyms |
mSiglec-F, Siglec5 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01582
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
43000765-43008955 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43008145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 553
(N553D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113245
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012798]
[ENSMUST00000121494]
[ENSMUST00000122423]
[ENSMUST00000206299]
|
AlphaFold |
Q920G3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012798
AA Change: N553D
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000012798 Gene: ENSMUSG00000039013 AA Change: N553D
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 benign
Transcript: ENSMUST00000121494
|
SMART Domains |
Protein: ENSMUSP00000112583 Gene: ENSMUSG00000039013
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 |
possibly damaging
Transcript: ENSMUST00000122423
AA Change: N553D
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113245 Gene: ENSMUSG00000039013 AA Change: N553D
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: ENSMUST00000145867
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206299
AA Change: N519D
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aurkb |
G |
A |
11: 68,939,605 (GRCm39) |
V201I |
probably damaging |
Het |
Csmd2 |
G |
T |
4: 128,457,098 (GRCm39) |
E212* |
probably null |
Het |
Dsg1a |
G |
T |
18: 20,461,905 (GRCm39) |
K335N |
probably null |
Het |
Epn2 |
A |
G |
11: 61,412,695 (GRCm39) |
S430P |
probably benign |
Het |
Ezh2 |
A |
T |
6: 47,532,989 (GRCm39) |
Y144* |
probably null |
Het |
Fcgbp |
G |
T |
7: 27,793,067 (GRCm39) |
D1024Y |
probably benign |
Het |
Gramd2b |
A |
G |
18: 56,618,488 (GRCm39) |
E232G |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,576,993 (GRCm39) |
K989R |
unknown |
Het |
Lrpprc |
G |
A |
17: 85,061,971 (GRCm39) |
A577V |
probably null |
Het |
Mansc1 |
T |
A |
6: 134,598,836 (GRCm39) |
N27I |
possibly damaging |
Het |
Nr1i3 |
A |
T |
1: 171,042,541 (GRCm39) |
I56F |
possibly damaging |
Het |
Ntpcr |
T |
C |
8: 126,471,981 (GRCm39) |
S64P |
probably benign |
Het |
Or52e19b |
A |
T |
7: 103,032,806 (GRCm39) |
Y134* |
probably null |
Het |
Ppwd1 |
A |
G |
13: 104,350,212 (GRCm39) |
I391T |
probably benign |
Het |
Serpinb3d |
A |
G |
1: 107,007,396 (GRCm39) |
F197L |
probably damaging |
Het |
Slc2a2 |
A |
G |
3: 28,762,637 (GRCm39) |
D60G |
probably benign |
Het |
Speer1j |
A |
G |
5: 11,555,240 (GRCm39) |
T70A |
probably benign |
Het |
Spsb4 |
T |
G |
9: 96,878,143 (GRCm39) |
D60A |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,512,982 (GRCm39) |
E100G |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,658,654 (GRCm39) |
M938T |
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 |
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 |
R5763:Siglecf
|
UTSW |
7 |
43,005,744 (GRCm39) |
nonsense |
probably null |
|
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 |
|
Posted On |
2013-12-09 |