Incidental Mutation 'IGL02454:Siglecg'
| ID |
293762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Siglecg
|
| Ensembl Gene |
ENSMUSG00000030468 |
| Gene Name |
sialic acid binding Ig-like lectin G |
| Synonyms |
A630096C01Rik, mSiglec-G |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43057623-43067773 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43058319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 69
(S69P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005592]
|
| AlphaFold |
Q80ZE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005592
AA Change: S69P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG
|
27 |
139 |
5.21e-2 |
SMART |
|
IG_like
|
148 |
232 |
8.97e0 |
SMART |
|
IGc2
|
262 |
325 |
3.38e-10 |
SMART |
|
IGc2
|
366 |
427 |
8.26e-5 |
SMART |
|
low complexity region
|
473 |
480 |
N/A |
INTRINSIC |
|
transmembrane domain
|
545 |
564 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154322
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for a null allele exhibit increased B-1 cell numbers, increased IgM levels and IgM-producing plasma cells, and produce more IgM autoantibodies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amz2 |
T |
G |
11: 109,324,887 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,051,560 (GRCm39) |
F1104S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,579,141 (GRCm39) |
N1610S |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,864,318 (GRCm39) |
D122E |
probably damaging |
Het |
| Crtc2 |
G |
A |
3: 90,166,474 (GRCm39) |
G65S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,971,593 (GRCm39) |
T2160A |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,032,483 (GRCm39) |
L278R |
probably damaging |
Het |
| Foxp4 |
A |
T |
17: 48,186,507 (GRCm39) |
L424* |
probably null |
Het |
| Gm10392 |
A |
T |
11: 77,409,216 (GRCm39) |
E310V |
probably damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,815 (GRCm39) |
S133C |
unknown |
Het |
| Hacd2 |
T |
A |
16: 34,926,761 (GRCm39) |
F253L |
probably benign |
Het |
| Il3ra |
T |
C |
14: 14,351,113 (GRCm38) |
S212P |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,694,674 (GRCm39) |
|
probably null |
Het |
| Mtfr1l |
A |
T |
4: 134,257,696 (GRCm39) |
L111H |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,858,741 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
C |
A |
1: 173,098,507 (GRCm39) |
S255Y |
probably damaging |
Het |
| Or52d1 |
T |
C |
7: 103,755,819 (GRCm39) |
V111A |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,075,231 (GRCm39) |
F357I |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,525,891 (GRCm39) |
V450L |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,411,456 (GRCm39) |
K764R |
probably benign |
Het |
| Pxn |
C |
T |
5: 115,690,325 (GRCm39) |
P256S |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,707,096 (GRCm39) |
F247L |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,675,970 (GRCm39) |
T62M |
possibly damaging |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,499 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
A |
G |
9: 119,587,610 (GRCm39) |
I1378T |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,605 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tex55 |
T |
A |
16: 38,648,309 (GRCm39) |
T267S |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,298,882 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
G |
1: 150,306,943 (GRCm39) |
S1587G |
probably benign |
Het |
| Trappc6b |
A |
G |
12: 59,090,433 (GRCm39) |
*97Q |
probably null |
Het |
| Usf3 |
T |
C |
16: 44,037,545 (GRCm39) |
V675A |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,929,299 (GRCm39) |
T1045M |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,552,254 (GRCm39) |
C618S |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,817,301 (GRCm39) |
V47A |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,211 (GRCm39) |
N423S |
probably benign |
Het |
|
| Other mutations in Siglecg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00528:Siglecg
|
APN |
7 |
43,058,481 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00556:Siglecg
|
APN |
7 |
43,061,219 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01806:Siglecg
|
APN |
7 |
43,060,888 (GRCm39) |
splice site |
probably null |
|
|
IGL01947:Siglecg
|
APN |
7 |
43,058,187 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02257:Siglecg
|
APN |
7 |
43,061,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02410:Siglecg
|
APN |
7 |
43,058,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Chamonix
|
UTSW |
7 |
43,058,846 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Dollywood
|
UTSW |
7 |
43,060,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
glowworm
|
UTSW |
7 |
43,058,003 (GRCm39) |
missense |
probably benign |
0.04 |
|
Montblanc
|
UTSW |
7 |
43,060,810 (GRCm39) |
intron |
probably benign |
|
|
Shenandoah
|
UTSW |
7 |
43,058,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
shenandoah2
|
UTSW |
7 |
43,061,441 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Sherando
|
UTSW |
7 |
43,058,481 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Smokies
|
UTSW |
7 |
43,058,703 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02988:Siglecg
|
UTSW |
7 |
43,067,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Siglecg
|
UTSW |
7 |
43,060,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0225:Siglecg
|
UTSW |
7 |
43,060,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Siglecg
|
UTSW |
7 |
43,060,550 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1538:Siglecg
|
UTSW |
7 |
43,067,313 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1681:Siglecg
|
UTSW |
7 |
43,058,365 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2358:Siglecg
|
UTSW |
7 |
43,058,846 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4428:Siglecg
|
UTSW |
7 |
43,067,350 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4429:Siglecg
|
UTSW |
7 |
43,067,350 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4736:Siglecg
|
UTSW |
7 |
43,067,332 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4754:Siglecg
|
UTSW |
7 |
43,061,295 (GRCm39) |
intron |
probably benign |
|
|
R5017:Siglecg
|
UTSW |
7 |
43,060,810 (GRCm39) |
intron |
probably benign |
|
|
R5713:Siglecg
|
UTSW |
7 |
43,058,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5777:Siglecg
|
UTSW |
7 |
43,058,837 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5892:Siglecg
|
UTSW |
7 |
43,061,628 (GRCm39) |
intron |
probably benign |
|
|
R6153:Siglecg
|
UTSW |
7 |
43,061,441 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6154:Siglecg
|
UTSW |
7 |
43,061,441 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6331:Siglecg
|
UTSW |
7 |
43,058,178 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6562:Siglecg
|
UTSW |
7 |
43,058,481 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6749:Siglecg
|
UTSW |
7 |
43,058,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7066:Siglecg
|
UTSW |
7 |
43,061,166 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7884:Siglecg
|
UTSW |
7 |
43,058,703 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8275:Siglecg
|
UTSW |
7 |
43,061,892 (GRCm39) |
missense |
probably benign |
|
|
R8554:Siglecg
|
UTSW |
7 |
43,058,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8846:Siglecg
|
UTSW |
7 |
43,061,942 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8873:Siglecg
|
UTSW |
7 |
43,067,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8887:Siglecg
|
UTSW |
7 |
43,058,008 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9012:Siglecg
|
UTSW |
7 |
43,060,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Siglecg
|
UTSW |
7 |
43,061,049 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9048:Siglecg
|
UTSW |
7 |
43,058,003 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9085:Siglecg
|
UTSW |
7 |
43,061,049 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9313:Siglecg
|
UTSW |
7 |
43,061,856 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9320:Siglecg
|
UTSW |
7 |
43,058,853 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9745:Siglecg
|
UTSW |
7 |
43,067,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF006:Siglecg
|
UTSW |
7 |
43,058,288 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Siglecg
|
UTSW |
7 |
43,061,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation