Incidental Mutation 'R9480:Siglecf'
ID |
716182 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9480 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
43000765-43008955 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 43001666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 159
(V159L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000012798
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012798]
[ENSMUST00000121494]
[ENSMUST00000122423]
[ENSMUST00000206299]
|
AlphaFold |
Q920G3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012798
AA Change: V159L
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000012798 Gene: ENSMUSG00000039013 AA Change: V159L
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 |
possibly damaging
Transcript: ENSMUST00000121494
AA Change: V159L
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112583 Gene: ENSMUSG00000039013 AA Change: V159L
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: V159L
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113245 Gene: ENSMUSG00000039013 AA Change: V159L
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 |
probably damaging
Transcript: ENSMUST00000206299
AA Change: V159L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,211,889 (GRCm39) |
W142R |
probably damaging |
Het |
Abcc6 |
A |
G |
7: 45,629,197 (GRCm39) |
S1350P |
probably damaging |
Het |
Abraxas2 |
G |
T |
7: 132,473,323 (GRCm39) |
V84L |
probably benign |
Het |
Adam12 |
T |
A |
7: 133,736,470 (GRCm39) |
I81F |
probably damaging |
Het |
Adam22 |
A |
G |
5: 8,193,077 (GRCm39) |
V376A |
probably benign |
Het |
Anapc11 |
T |
A |
11: 120,496,176 (GRCm39) |
I60N |
probably damaging |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
T |
A |
19: 57,690,420 (GRCm39) |
V876E |
possibly damaging |
Het |
Bcar3 |
C |
T |
3: 122,277,618 (GRCm39) |
R21* |
probably null |
Het |
Calb1 |
T |
A |
4: 15,885,608 (GRCm39) |
S60T |
probably benign |
Het |
Ceacam9 |
A |
G |
7: 16,457,783 (GRCm39) |
T99A |
probably damaging |
Het |
Cemip2 |
C |
A |
19: 21,775,622 (GRCm39) |
H288Q |
possibly damaging |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,497,338 (GRCm39) |
D213G |
possibly damaging |
Het |
Col23a1 |
T |
A |
11: 51,207,774 (GRCm39) |
C105S |
unknown |
Het |
Cxcl2 |
T |
C |
5: 91,052,029 (GRCm39) |
V45A |
possibly damaging |
Het |
Ddx21 |
T |
C |
10: 62,434,652 (GRCm39) |
T36A |
probably benign |
Het |
Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
Dus2 |
C |
T |
8: 106,757,052 (GRCm39) |
Q81* |
probably null |
Het |
Fat3 |
T |
C |
9: 15,942,703 (GRCm39) |
D1223G |
probably damaging |
Het |
Fgf3 |
G |
T |
7: 144,396,619 (GRCm39) |
R211L |
possibly damaging |
Het |
Galnt17 |
T |
A |
5: 130,935,576 (GRCm39) |
E369V |
probably damaging |
Het |
Gatad2a |
T |
C |
8: 70,388,459 (GRCm39) |
D76G |
probably damaging |
Het |
Gin1 |
A |
G |
1: 97,705,198 (GRCm39) |
E96G |
probably damaging |
Het |
Gpr55 |
A |
C |
1: 85,868,977 (GRCm39) |
Y201* |
probably null |
Het |
Hgsnat |
T |
C |
8: 26,442,029 (GRCm39) |
N499D |
possibly damaging |
Het |
Hipk2 |
G |
T |
6: 38,680,377 (GRCm39) |
P988T |
probably benign |
Het |
Hivep1 |
A |
T |
13: 42,337,058 (GRCm39) |
Q2379L |
probably damaging |
Het |
Kat14 |
T |
A |
2: 144,215,745 (GRCm39) |
C77S |
probably damaging |
Het |
Klhl25 |
T |
C |
7: 75,516,120 (GRCm39) |
V342A |
probably damaging |
Het |
Krt35 |
T |
C |
11: 99,986,609 (GRCm39) |
Q135R |
probably benign |
Het |
Lhfpl2 |
T |
A |
13: 94,310,733 (GRCm39) |
M1K |
probably null |
Het |
Lipk |
T |
A |
19: 33,999,101 (GRCm39) |
L132Q |
probably damaging |
Het |
Lrrc39 |
T |
A |
3: 116,359,475 (GRCm39) |
C7S |
probably benign |
Het |
Ltb4r2 |
T |
A |
14: 56,000,089 (GRCm39) |
W237R |
probably damaging |
Het |
Mesp2 |
A |
G |
7: 79,461,034 (GRCm39) |
I120V |
probably damaging |
Het |
Mfsd6 |
A |
G |
1: 52,699,835 (GRCm39) |
V771A |
unknown |
Het |
Mtfmt |
A |
T |
9: 65,351,181 (GRCm39) |
T243S |
possibly damaging |
Het |
Nlrp12 |
A |
T |
7: 3,288,993 (GRCm39) |
C506* |
probably null |
Het |
Ntng2 |
T |
A |
2: 29,137,997 (GRCm39) |
Y19F |
probably damaging |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
P4hb |
A |
T |
11: 120,463,551 (GRCm39) |
V28D |
probably damaging |
Het |
Phkb |
T |
G |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
Poldip2 |
T |
C |
11: 78,411,988 (GRCm39) |
L308S |
probably damaging |
Het |
Prkd1 |
T |
A |
12: 50,435,283 (GRCm39) |
E481D |
probably benign |
Het |
Serping1 |
C |
T |
2: 84,600,487 (GRCm39) |
S285N |
probably benign |
Het |
Sh2d2a |
A |
C |
3: 87,759,638 (GRCm39) |
I350L |
probably benign |
Het |
Sspo |
A |
G |
6: 48,470,820 (GRCm39) |
N36S |
probably damaging |
Het |
Sytl2 |
C |
T |
7: 90,020,718 (GRCm39) |
T147M |
possibly damaging |
Het |
Tmc7 |
A |
G |
7: 118,141,226 (GRCm39) |
F635S |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,157,757 (GRCm39) |
L175F |
|
Het |
Ttc39d |
A |
G |
17: 80,524,139 (GRCm39) |
H266R |
probably benign |
Het |
Usp33 |
T |
G |
3: 152,079,086 (GRCm39) |
I446R |
possibly damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Zbtb49 |
T |
A |
5: 38,358,409 (GRCm39) |
T615S |
possibly damaging |
Het |
Zbtb8a |
G |
T |
4: 129,253,875 (GRCm39) |
H206Q |
probably benign |
Het |
Zfp180 |
A |
G |
7: 23,804,628 (GRCm39) |
N349S |
probably benign |
Het |
Zfp345 |
A |
T |
2: 150,315,212 (GRCm39) |
C108* |
probably null |
Het |
Zfp420 |
T |
A |
7: 29,575,497 (GRCm39) |
H572Q |
probably benign |
Het |
Zfp423 |
A |
G |
8: 88,631,115 (GRCm39) |
|
probably null |
Het |
Zfp820 |
T |
A |
17: 22,037,994 (GRCm39) |
T445S |
possibly damaging |
Het |
Zim1 |
T |
C |
7: 6,681,050 (GRCm39) |
I204M |
probably benign |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
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 |
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'- AAAAGCCTTTGGGTGCCCTG -3'
(R):5'- GATGACACTGAGCTGTTGAGTC -3'
Sequencing Primer
(F):5'- CCCTGGAGACCGCATAATGAG -3'
(R):5'- GAGCTGTTGAGTCCTCTCCACAG -3'
|
Posted On |
2022-07-18 |