Incidental Mutation 'R7369:Siglecf'
| ID |
572002 |
| 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 |
045453-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43000765-43008955 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43001241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 70
(T70A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012798]
[ENSMUST00000121494]
[ENSMUST00000122423]
[ENSMUST00000206299]
|
| AlphaFold |
Q920G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012798
AA Change: T70A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: T70A
| 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: T70A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: T70A
| 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: T70A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: T70A
| 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: T70A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6449 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (77/77) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
C |
T |
7: 29,989,377 (GRCm39) |
L196F |
unknown |
Het |
| Ahr |
A |
T |
12: 35,554,659 (GRCm39) |
W487R |
possibly damaging |
Het |
| Apaf1 |
A |
G |
10: 90,836,898 (GRCm39) |
S1060P |
probably damaging |
Het |
| Atf7 |
G |
T |
15: 102,462,244 (GRCm39) |
P126H |
probably damaging |
Het |
| B3gnt5 |
C |
A |
16: 19,588,410 (GRCm39) |
Q210K |
probably benign |
Het |
| Begain |
T |
C |
12: 108,999,853 (GRCm39) |
Y306C |
possibly damaging |
Het |
| Car5a |
T |
C |
8: 122,650,573 (GRCm39) |
K157R |
probably benign |
Het |
| Car5b |
A |
C |
X: 162,797,836 (GRCm39) |
S35R |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,042,724 (GRCm39) |
V478A |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 35,999,992 (GRCm39) |
E91G |
probably damaging |
Het |
| Cep135 |
A |
C |
5: 76,741,100 (GRCm39) |
K59Q |
possibly damaging |
Het |
| Clec2m |
T |
A |
6: 129,308,496 (GRCm39) |
Q11L |
possibly damaging |
Het |
| Cnot3 |
T |
A |
7: 3,656,330 (GRCm39) |
D205E |
possibly damaging |
Het |
| Dgkd |
G |
A |
1: 87,849,344 (GRCm39) |
G379R |
probably damaging |
Het |
| Dppa1 |
T |
A |
11: 46,506,944 (GRCm39) |
|
probably null |
Het |
| Dsp |
G |
T |
13: 38,381,501 (GRCm39) |
V2749F |
possibly damaging |
Het |
| E2f4 |
A |
G |
8: 106,026,966 (GRCm39) |
K177E |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,008,661 (GRCm39) |
P819L |
possibly damaging |
Het |
| Ercc5 |
T |
A |
1: 44,220,020 (GRCm39) |
S1097R |
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,218,183 (GRCm39) |
N162S |
probably benign |
Het |
| Evl |
A |
G |
12: 108,652,824 (GRCm39) |
Y423C |
unknown |
Het |
| Fam78a |
T |
A |
2: 31,959,699 (GRCm39) |
N137I |
probably damaging |
Het |
| Fcrl2 |
T |
C |
3: 87,164,008 (GRCm39) |
N374D |
possibly damaging |
Het |
| Fcrla |
T |
G |
1: 170,749,886 (GRCm39) |
D57A |
probably benign |
Het |
| Gm7145 |
A |
T |
1: 117,913,838 (GRCm39) |
H240L |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,965 (GRCm39) |
N1549K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 87,048,391 (GRCm39) |
R9H |
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,160,300 (GRCm39) |
|
probably null |
Het |
| Lce1d |
G |
A |
3: 92,593,390 (GRCm39) |
Q8* |
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,557,906 (GRCm39) |
H180R |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,359,301 (GRCm39) |
Y283F |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,172,051 (GRCm39) |
R1646K |
|
Het |
| Map3k21 |
C |
A |
8: 126,637,855 (GRCm39) |
A147E |
possibly damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,338,454 (GRCm39) |
S11P |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,773,375 (GRCm39) |
F5518L |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,435,770 (GRCm39) |
T510S |
probably benign |
Het |
| Myh1 |
A |
T |
11: 67,111,524 (GRCm39) |
Q1654H |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,968,747 (GRCm39) |
V506A |
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,642,209 (GRCm39) |
S70P |
probably damaging |
Het |
| Nmi |
T |
C |
2: 51,840,096 (GRCm39) |
D215G |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,895,449 (GRCm39) |
S496P |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,158,396 (GRCm39) |
C228S |
probably damaging |
Het |
| Or6c5c |
A |
T |
10: 129,299,390 (GRCm39) |
M282L |
probably benign |
Het |
| Pcdh9 |
C |
A |
14: 94,123,803 (GRCm39) |
R789L |
possibly damaging |
Het |
| Pigr |
A |
T |
1: 130,769,503 (GRCm39) |
T105S |
probably benign |
Het |
| Polr2a |
A |
C |
11: 69,636,803 (GRCm39) |
S383A |
probably benign |
Het |
| Prr35 |
G |
A |
17: 26,166,934 (GRCm39) |
S201L |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,356,818 (GRCm39) |
H634L |
possibly damaging |
Het |
| Ptgr2 |
T |
G |
12: 84,339,080 (GRCm39) |
|
probably benign |
Het |
| Ptk6 |
A |
G |
2: 180,840,254 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,294 (GRCm39) |
T1251A |
|
Het |
| Rtkn2 |
A |
G |
10: 67,877,259 (GRCm39) |
K443E |
probably damaging |
Het |
| Rundc3a |
T |
A |
11: 102,290,721 (GRCm39) |
L268Q |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,802,879 (GRCm39) |
E138G |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,356,075 (GRCm39) |
D375V |
probably benign |
Het |
| Slc20a2 |
A |
T |
8: 23,051,416 (GRCm39) |
E483V |
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,593,394 (GRCm39) |
V148A |
probably benign |
Het |
| Sort1 |
G |
A |
3: 108,258,996 (GRCm39) |
G676D |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,584,293 (GRCm39) |
S1581G |
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,073,130 (GRCm39) |
R214* |
probably null |
Het |
| Stxbp5l |
A |
G |
16: 36,954,703 (GRCm39) |
I950T |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,013,239 (GRCm39) |
C660S |
possibly damaging |
Het |
| Tgm4 |
T |
A |
9: 122,885,749 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,053,535 (GRCm39) |
Y671C |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,719,717 (GRCm39) |
|
probably null |
Het |
| Tut7 |
A |
G |
13: 59,929,867 (GRCm39) |
I1458T |
possibly damaging |
Het |
| Uba2 |
A |
G |
7: 33,850,239 (GRCm39) |
S405P |
possibly damaging |
Het |
| Usp34 |
T |
C |
11: 23,382,361 (GRCm39) |
I2043T |
|
Het |
| Vmn1r12 |
T |
A |
6: 57,136,683 (GRCm39) |
I260N |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,360,030 (GRCm39) |
T305I |
unknown |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,638 (GRCm39) |
V655A |
probably damaging |
Het |
| Wdr33 |
T |
C |
18: 32,019,719 (GRCm39) |
S464P |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,750 (GRCm39) |
C217S |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,942,214 (GRCm39) |
E463G |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,696 (GRCm39) |
Y517H |
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 |
|
|
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 |
|
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'- CTCATTTCTTTGCAGGGTGC -3'
(R):5'- GCTTTTAGAACAAGGACCTCCAC -3'
Sequencing Primer
(F):5'- CCTGGCTACGGACGGTTATTC -3'
(R):5'- GCACAGAGAGCATTGACTTCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation