Incidental Mutation 'IGL01306:Siglecf'
| ID |
73458 |
| 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 # |
IGL01306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43000765-43008955 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 43001377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 115
(L115*)
|
| 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: L115*
|
| SMART Domains |
Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: L115*
| 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: L115*
|
| SMART Domains |
Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: L115*
| 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: L115*
|
| SMART Domains |
Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: L115*
| 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: L115*
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
G |
A |
12: 70,215,822 (GRCm39) |
G88S |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,051 (GRCm39) |
F230S |
probably benign |
Het |
| Ago4 |
T |
C |
4: 126,409,677 (GRCm39) |
|
probably null |
Het |
| Akap12 |
G |
T |
10: 4,303,273 (GRCm39) |
A28S |
probably benign |
Het |
| Anks1 |
C |
A |
17: 28,205,227 (GRCm39) |
T262K |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,710 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,059,162 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
T |
A |
1: 136,225,528 (GRCm39) |
E199D |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,656,429 (GRCm39) |
M128K |
probably benign |
Het |
| Ccdc38 |
T |
C |
10: 93,405,797 (GRCm39) |
|
probably null |
Het |
| Cep95 |
G |
A |
11: 106,704,641 (GRCm39) |
V499I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,706 (GRCm39) |
I299F |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,769,428 (GRCm39) |
Y278* |
probably null |
Het |
| Dip2c |
A |
G |
13: 9,625,179 (GRCm39) |
N558D |
possibly damaging |
Het |
| Edar |
A |
T |
10: 58,464,460 (GRCm39) |
C60S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,201,698 (GRCm39) |
N459D |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,251,785 (GRCm39) |
V243M |
possibly damaging |
Het |
| Fem1b |
G |
A |
9: 62,704,810 (GRCm39) |
A150V |
possibly damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,125,432 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2c |
T |
C |
11: 115,147,020 (GRCm39) |
T392A |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,572,362 (GRCm39) |
E117G |
probably damaging |
Het |
| Kif12 |
G |
T |
4: 63,084,121 (GRCm39) |
P627Q |
probably damaging |
Het |
| Krtap15-1 |
T |
A |
16: 88,626,255 (GRCm39) |
F88L |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,081,980 (GRCm39) |
N248D |
possibly damaging |
Het |
| Or2i1 |
T |
C |
17: 37,507,833 (GRCm39) |
N342S |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,364,039 (GRCm39) |
N2D |
probably benign |
Het |
| Or52z12 |
T |
C |
7: 103,233,900 (GRCm39) |
Y224H |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,376,555 (GRCm39) |
H106R |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,827,229 (GRCm39) |
T486S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,485,595 (GRCm39) |
V474A |
possibly damaging |
Het |
| Scamp4 |
C |
A |
10: 80,445,256 (GRCm39) |
Q34K |
probably damaging |
Het |
| Serpinb3b |
A |
G |
1: 107,082,395 (GRCm39) |
Y290H |
probably damaging |
Het |
| Sft2d2 |
G |
T |
1: 165,011,564 (GRCm39) |
A110E |
probably benign |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,892,313 (GRCm39) |
K18* |
probably null |
Het |
| Spata1 |
A |
T |
3: 146,193,154 (GRCm39) |
Y112* |
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,056,620 (GRCm39) |
T440I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,787,965 (GRCm39) |
E462V |
probably damaging |
Het |
| Wnt16 |
C |
T |
6: 22,297,934 (GRCm39) |
R267C |
probably damaging |
Het |
| Xylt1 |
A |
C |
7: 117,148,125 (GRCm39) |
S230R |
probably benign |
Het |
|
| Other mutations in Siglecf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation