Incidental Mutation 'R8686:Siglecf'
| ID |
662042 |
| 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 |
068541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43351341-43359531 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43355606 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 420
(V420A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012798]
[ENSMUST00000121494]
[ENSMUST00000122423]
[ENSMUST00000206299]
|
| AlphaFold |
Q920G3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012798
AA Change: V420A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: V420A
| 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
AA Change: V420A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: V420A
| 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 benign
Transcript: ENSMUST00000122423
AA Change: V420A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: V420A
| 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 benign
Transcript: ENSMUST00000206299
AA Change: V420A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 40,755,484 (GRCm38) |
T596A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,313,699 (GRCm38) |
I303V |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,743,801 (GRCm38) |
H341Q |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,988,128 (GRCm38) |
R939H |
probably damaging |
Het |
| Cd22 |
G |
A |
7: 30,870,069 (GRCm38) |
R541C |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,659,604 (GRCm38) |
M660K |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,095,380 (GRCm38) |
S1067T |
possibly damaging |
Het |
| Col5a2 |
C |
T |
1: 45,421,987 (GRCm38) |
G250D |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm38) |
T331M |
unknown |
Het |
| Dgka |
A |
G |
10: 128,733,093 (GRCm38) |
M201T |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,170,805 (GRCm38) |
I1804V |
probably benign |
Het |
| Dym |
T |
A |
18: 75,286,683 (GRCm38) |
Y642N |
probably damaging |
Het |
| Efr3b |
A |
T |
12: 4,000,886 (GRCm38) |
D26E |
probably damaging |
Het |
| Emilin1 |
A |
T |
5: 30,917,696 (GRCm38) |
K427M |
possibly damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,234 (GRCm38) |
L56S |
probably benign |
Het |
| Fbh1 |
C |
T |
2: 11,755,658 (GRCm38) |
V694I |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,379,023 (GRCm38) |
T644I |
probably benign |
Het |
| G6pc1 |
T |
G |
11: 101,374,707 (GRCm38) |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,836,687 (GRCm38) |
S1245P |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,359,406 (GRCm38) |
Y355C |
|
Het |
| Ighv1-84 |
T |
C |
12: 115,980,904 (GRCm38) |
D50G |
probably benign |
Het |
| Impdh1 |
C |
A |
6: 29,216,215 (GRCm38) |
|
probably benign |
Het |
| Inhca |
C |
T |
9: 103,259,428 (GRCm38) |
A525T |
probably benign |
Het |
| Irf4 |
A |
T |
13: 30,761,450 (GRCm38) |
D393V |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,360,935 (GRCm38) |
L111P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,981,853 (GRCm38) |
V58A |
possibly damaging |
Het |
| Lrif1 |
C |
T |
3: 106,732,781 (GRCm38) |
T394I |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,994,073 (GRCm38) |
T434A |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,541,717 (GRCm38) |
T327M |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,334,322 (GRCm38) |
S716I |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,369,771 (GRCm38) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,368,843 (GRCm38) |
T202A |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,947,692 (GRCm38) |
T456A |
probably benign |
Het |
| Or14j7 |
T |
C |
17: 37,924,277 (GRCm38) |
V237A |
probably benign |
Het |
| Or2d4 |
A |
C |
7: 106,944,698 (GRCm38) |
M101R |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,117,922 (GRCm38) |
S80T |
probably benign |
Het |
| Pde1a |
C |
T |
2: 79,927,742 (GRCm38) |
V50I |
probably benign |
Het |
| Pfkl |
A |
T |
10: 77,997,522 (GRCm38) |
|
probably null |
Het |
| Phkg1 |
A |
T |
5: 129,866,215 (GRCm38) |
Y207N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,658,529 (GRCm38) |
T640A |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,311,993 (GRCm38) |
H411N |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,244,691 (GRCm38) |
S73P |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,335,663 (GRCm38) |
V662A |
probably damaging |
Het |
| Prss43 |
C |
T |
9: 110,829,426 (GRCm38) |
R265C |
possibly damaging |
Het |
| Rap1b |
A |
T |
10: 117,822,841 (GRCm38) |
V29D |
probably damaging |
Het |
| Rraga |
A |
G |
4: 86,576,811 (GRCm38) |
E298G |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,733,574 (GRCm38) |
I418N |
probably damaging |
Het |
| Snx14 |
T |
A |
9: 88,415,693 (GRCm38) |
N174I |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,934,115 (GRCm38) |
N229S |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,176,120 (GRCm38) |
D128G |
probably benign |
Het |
| Teddm3 |
A |
G |
16: 21,152,935 (GRCm38) |
*295Q |
probably null |
Het |
| Tfap2c |
A |
G |
2: 172,552,006 (GRCm38) |
D245G |
possibly damaging |
Het |
| Tfap2d |
A |
G |
1: 19,108,284 (GRCm38) |
N191S |
probably benign |
Het |
| Tmt1b |
A |
T |
10: 128,960,607 (GRCm38) |
M111K |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,612,268 (GRCm38) |
R1591G |
possibly damaging |
Het |
| Vmn1r116 |
T |
C |
7: 20,872,691 (GRCm38) |
W146R |
probably damaging |
Het |
| Vps13b |
C |
G |
15: 35,925,389 (GRCm38) |
S3823R |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,367,847 (GRCm38) |
D163V |
probably damaging |
Het |
| Xylt1 |
G |
C |
7: 117,381,359 (GRCm38) |
A61P |
unknown |
Het |
| Zfp521 |
A |
C |
18: 13,845,644 (GRCm38) |
F571V |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,886,069 (GRCm38) |
C176S |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,287,453 (GRCm38) |
N264D |
probably benign |
Het |
|
| Other mutations in Siglecf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Siglecf
|
APN |
7 |
43,351,953 (GRCm38) |
nonsense |
probably null |
|
|
IGL01350:Siglecf
|
APN |
7 |
43,355,895 (GRCm38) |
intron |
probably benign |
|
|
IGL01458:Siglecf
|
APN |
7 |
43,355,138 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL01582:Siglecf
|
APN |
7 |
43,358,721 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL02347:Siglecf
|
APN |
7 |
43,351,721 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02530:Siglecf
|
APN |
7 |
43,352,210 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02700:Siglecf
|
APN |
7 |
43,352,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03093:Siglecf
|
APN |
7 |
43,352,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03178:Siglecf
|
APN |
7 |
43,358,739 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03280:Siglecf
|
APN |
7 |
43,355,930 (GRCm38) |
missense |
probably benign |
0.04 |
|
ANU23:Siglecf
|
UTSW |
7 |
43,351,953 (GRCm38) |
nonsense |
probably null |
|
|
R0003:Siglecf
|
UTSW |
7 |
43,355,926 (GRCm38) |
missense |
probably benign |
|
|
R0025:Siglecf
|
UTSW |
7 |
43,351,925 (GRCm38) |
missense |
probably benign |
0.29 |
|
R0304:Siglecf
|
UTSW |
7 |
43,352,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0345:Siglecf
|
UTSW |
7 |
43,351,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0395:Siglecf
|
UTSW |
7 |
43,355,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0515:Siglecf
|
UTSW |
7 |
43,355,631 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1296:Siglecf
|
UTSW |
7 |
43,355,920 (GRCm38) |
nonsense |
probably null |
|
|
R1861:Siglecf
|
UTSW |
7 |
43,355,543 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1861:Siglecf
|
UTSW |
7 |
43,352,224 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1869:Siglecf
|
UTSW |
7 |
43,355,543 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1870:Siglecf
|
UTSW |
7 |
43,355,543 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1871:Siglecf
|
UTSW |
7 |
43,355,543 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2063:Siglecf
|
UTSW |
7 |
43,352,380 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R2176:Siglecf
|
UTSW |
7 |
43,351,716 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2237:Siglecf
|
UTSW |
7 |
43,354,985 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4023:Siglecf
|
UTSW |
7 |
43,355,571 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R4498:Siglecf
|
UTSW |
7 |
43,352,276 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4664:Siglecf
|
UTSW |
7 |
43,356,413 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5227:Siglecf
|
UTSW |
7 |
43,351,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5315:Siglecf
|
UTSW |
7 |
43,355,108 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5763:Siglecf
|
UTSW |
7 |
43,356,320 (GRCm38) |
nonsense |
probably null |
|
|
R5828:Siglecf
|
UTSW |
7 |
43,351,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5871:Siglecf
|
UTSW |
7 |
43,355,621 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5952:Siglecf
|
UTSW |
7 |
43,355,927 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6054:Siglecf
|
UTSW |
7 |
43,355,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6537:Siglecf
|
UTSW |
7 |
43,355,999 (GRCm38) |
missense |
probably benign |
|
|
R6854:Siglecf
|
UTSW |
7 |
43,352,180 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6875:Siglecf
|
UTSW |
7 |
43,355,200 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7328:Siglecf
|
UTSW |
7 |
43,352,267 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7329:Siglecf
|
UTSW |
7 |
43,351,971 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7356:Siglecf
|
UTSW |
7 |
43,356,431 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7369:Siglecf
|
UTSW |
7 |
43,351,817 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7659:Siglecf
|
UTSW |
7 |
43,351,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7984:Siglecf
|
UTSW |
7 |
43,355,231 (GRCm38) |
splice site |
probably null |
|
|
R8074:Siglecf
|
UTSW |
7 |
43,351,790 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8411:Siglecf
|
UTSW |
7 |
43,351,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8724:Siglecf
|
UTSW |
7 |
43,355,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8962:Siglecf
|
UTSW |
7 |
43,351,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9480:Siglecf
|
UTSW |
7 |
43,352,242 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9572:Siglecf
|
UTSW |
7 |
43,352,634 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9592:Siglecf
|
UTSW |
7 |
43,352,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCACAGCCTGGGAAATCC -3'
(R):5'- TTGTGAGAATGTCCCCTCCC -3'
Sequencing Primer
(F):5'- TTCGAGGGTCAAGGTCTGCAC -3'
(R):5'- GAGAATGTCCCCTCCCACTTTGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation