Incidental Mutation 'R6054:Siglecf'
| ID |
484300 |
| 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 |
044222-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43000765-43008955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43004430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 253
(L253Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012798]
[ENSMUST00000121494]
[ENSMUST00000122423]
[ENSMUST00000206299]
|
| AlphaFold |
Q920G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012798
AA Change: L253Q
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: L253Q
| 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 damaging
Transcript: ENSMUST00000121494
AA Change: L253Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: L253Q
| 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 damaging
Transcript: ENSMUST00000122423
AA Change: L253Q
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: L253Q
| 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 damaging
Transcript: ENSMUST00000206299
AA Change: L253Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,653,729 (GRCm39) |
S93P |
unknown |
Het |
| Adam28 |
T |
A |
14: 68,879,601 (GRCm39) |
N149I |
probably benign |
Het |
| Adam4 |
A |
C |
12: 81,466,828 (GRCm39) |
F598V |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,151,136 (GRCm39) |
H33R |
possibly damaging |
Het |
| Apoh |
A |
G |
11: 108,286,801 (GRCm39) |
N75S |
probably damaging |
Het |
| Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
| Atm |
T |
C |
9: 53,371,173 (GRCm39) |
D2225G |
probably damaging |
Het |
| Atp6v0a1 |
C |
T |
11: 100,930,715 (GRCm39) |
P514L |
possibly damaging |
Het |
| Brd9 |
T |
A |
13: 74,088,860 (GRCm39) |
M195K |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 85,283,414 (GRCm39) |
S755A |
probably damaging |
Het |
| Ccdc85c |
T |
A |
12: 108,241,028 (GRCm39) |
H122L |
unknown |
Het |
| Ccs |
A |
T |
19: 4,875,893 (GRCm39) |
D192E |
probably benign |
Het |
| Cd3e |
G |
A |
9: 44,913,459 (GRCm39) |
T92M |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,314,279 (GRCm39) |
F1249L |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,515 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,668,859 (GRCm39) |
Y122H |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,083,748 (GRCm39) |
P570S |
possibly damaging |
Het |
| Dchs2 |
A |
T |
3: 83,253,543 (GRCm39) |
I2318L |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,660,219 (GRCm39) |
Y184N |
probably benign |
Het |
| Dmxl1 |
T |
G |
18: 49,990,453 (GRCm39) |
N297K |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,351,585 (GRCm39) |
G135S |
probably benign |
Het |
| Efhb |
C |
T |
17: 53,706,027 (GRCm39) |
V837I |
possibly damaging |
Het |
| Efs |
C |
T |
14: 55,158,614 (GRCm39) |
D15N |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,351,681 (GRCm39) |
T314I |
probably damaging |
Het |
| Gm11595 |
A |
T |
11: 99,663,474 (GRCm39) |
C69S |
unknown |
Het |
| Grxcr2 |
A |
G |
18: 42,119,743 (GRCm39) |
V199A |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,328,682 (GRCm39) |
E468G |
probably benign |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,759,217 (GRCm39) |
V125E |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,772,412 (GRCm39) |
T74S |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
| Leng8 |
C |
A |
7: 4,148,522 (GRCm39) |
|
probably null |
Het |
| Maml2 |
TCAGCAGCAGCAGCAGCAGC |
TCAGCAGCAGCAGCAGC |
9: 13,532,695 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,908,851 (GRCm39) |
H154R |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,347,636 (GRCm39) |
E777G |
probably benign |
Het |
| Miip |
A |
G |
4: 147,950,135 (GRCm39) |
S154P |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,649,251 (GRCm39) |
V985A |
probably benign |
Het |
| Nmrk2 |
G |
A |
10: 81,035,468 (GRCm39) |
R158W |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,039,505 (GRCm39) |
S180P |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,764,571 (GRCm39) |
S190P |
probably damaging |
Het |
| Opa1 |
T |
G |
16: 29,433,952 (GRCm39) |
S596A |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,631 (GRCm39) |
M34I |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,531,033 (GRCm39) |
V139A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,073,857 (GRCm39) |
E496G |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,133 (GRCm39) |
V171G |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,339,003 (GRCm39) |
T68A |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,418,219 (GRCm39) |
Y1719C |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,490,727 (GRCm39) |
N412S |
probably benign |
Het |
| Rb1cc1 |
G |
T |
1: 6,320,058 (GRCm39) |
R1159L |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,700,146 (GRCm39) |
S1548T |
probably benign |
Het |
| Rora |
A |
G |
9: 69,286,084 (GRCm39) |
I471M |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,535,877 (GRCm39) |
V266L |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,416,470 (GRCm39) |
D386N |
possibly damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,464 (GRCm39) |
H204R |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,007,356 (GRCm39) |
T313A |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,038,304 (GRCm39) |
T578A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,450 (GRCm39) |
S597G |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,126 (GRCm39) |
H174L |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,436,975 (GRCm39) |
S281T |
probably benign |
Het |
| Wdr48 |
A |
G |
9: 119,736,843 (GRCm39) |
D22G |
probably damaging |
Het |
| Zfp408 |
C |
A |
2: 91,479,636 (GRCm39) |
V61L |
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,640,689 (GRCm39) |
A205T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACACTGCTAAGAGCTATTGTC -3'
(R):5'- GACTGTTCTGAGCTTGGCAG -3'
Sequencing Primer
(F):5'- ATGGTGTGAGGCCATCAGC -3'
(R):5'- AGCTTGGCAGATGTATTTTCCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation