Incidental Mutation 'IGL01458:Siglecf'
| ID |
84887 |
| 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 # |
IGL01458
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43000765-43008955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43004562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 297
(R297Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012798]
[ENSMUST00000121494]
[ENSMUST00000122423]
[ENSMUST00000206299]
|
| AlphaFold |
Q920G3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012798
AA Change: R297Q
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: R297Q
| 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: R297Q
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: R297Q
| 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: R297Q
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: R297Q
| 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 |
possibly damaging
Transcript: ENSMUST00000206299
AA Change: R297Q
PolyPhen 2
Score 0.461 (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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
| Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
| Akr1c18 |
A |
T |
13: 4,187,143 (GRCm39) |
Y198N |
probably damaging |
Het |
| Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
| Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
| Evi5 |
G |
A |
5: 107,963,513 (GRCm39) |
A354V |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,738,151 (GRCm39) |
R137S |
probably benign |
Het |
| Fto |
A |
G |
8: 92,168,344 (GRCm39) |
T266A |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,053,943 (GRCm39) |
V17I |
unknown |
Het |
| Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
| Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
| Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,572,443 (GRCm39) |
M369K |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
| Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,088,741 (GRCm39) |
M1K |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,855 (GRCm39) |
|
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
probably damaging |
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 |
|
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation