Incidental Mutation 'R9313:Siglecg'
ID |
705715 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Siglecg
|
Ensembl Gene |
ENSMUSG00000030468 |
Gene Name |
sialic acid binding Ig-like lectin G |
Synonyms |
A630096C01Rik, mSiglec-G |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R9313 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
43057623-43067773 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43061856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 534
(D534G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005592]
|
AlphaFold |
Q80ZE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005592
AA Change: D534G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000005592 Gene: ENSMUSG00000030468 AA Change: D534G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
C |
3: 124,207,220 (GRCm39) |
T324A |
probably benign |
Het |
Aadat |
G |
A |
8: 60,979,635 (GRCm39) |
V166I |
probably benign |
Het |
Abca17 |
C |
T |
17: 24,565,207 (GRCm39) |
S75N |
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,411,624 (GRCm39) |
T376A |
probably damaging |
Het |
Atp5po |
CTTTGACG |
C |
16: 91,723,804 (GRCm39) |
|
probably null |
Het |
Atp5po |
TTTGACGGT |
TT |
16: 91,723,805 (GRCm39) |
|
probably null |
Het |
Car9 |
A |
G |
4: 43,507,180 (GRCm39) |
E42G |
probably benign |
Het |
Ccdc168 |
A |
G |
1: 44,096,520 (GRCm39) |
V1526A |
probably benign |
Het |
Cep41 |
T |
C |
6: 30,680,345 (GRCm39) |
K9R |
probably null |
Het |
Cfap20dc |
T |
A |
14: 8,518,635 (GRCm38) |
T274S |
probably benign |
Het |
Ckm |
A |
G |
7: 19,149,398 (GRCm39) |
T141A |
probably benign |
Het |
Clcc1 |
G |
T |
3: 108,581,976 (GRCm39) |
R360S |
probably benign |
Het |
Clcn3 |
A |
C |
8: 61,390,503 (GRCm39) |
I146R |
probably damaging |
Het |
Crlf1 |
A |
G |
8: 70,951,466 (GRCm39) |
D115G |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,987,970 (GRCm39) |
I3483F |
probably damaging |
Het |
Dop1a |
T |
C |
9: 86,406,641 (GRCm39) |
*386Q |
probably null |
Het |
Eftud2 |
A |
G |
11: 102,730,262 (GRCm39) |
V899A |
probably benign |
Het |
Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
Faap100 |
A |
G |
11: 120,267,688 (GRCm39) |
S362P |
probably damaging |
Het |
Fdps |
A |
T |
3: 89,006,655 (GRCm39) |
D78E |
probably benign |
Het |
Fsd1l |
T |
G |
4: 53,694,760 (GRCm39) |
W405G |
probably damaging |
Het |
Fsd1l |
T |
C |
4: 53,701,093 (GRCm39) |
V485A |
possibly damaging |
Het |
Gm12887 |
C |
T |
4: 121,473,701 (GRCm39) |
V50M |
probably benign |
Het |
Gm45785 |
T |
C |
7: 140,398,616 (GRCm39) |
I94V |
unknown |
Het |
Hcls1 |
C |
T |
16: 36,777,000 (GRCm39) |
A230V |
probably benign |
Het |
Hmcn1 |
A |
C |
1: 150,522,343 (GRCm39) |
V3519G |
probably benign |
Het |
Hmgcs1 |
A |
G |
13: 120,165,963 (GRCm39) |
Y360C |
probably benign |
Het |
Hsd17b13 |
A |
G |
5: 104,113,639 (GRCm39) |
|
probably null |
Het |
Ift57 |
T |
A |
16: 49,557,085 (GRCm39) |
D235E |
possibly damaging |
Het |
Il22b |
A |
G |
10: 118,130,138 (GRCm39) |
C89R |
probably damaging |
Het |
Iqcn |
G |
A |
8: 71,161,353 (GRCm39) |
G182D |
probably damaging |
Het |
Krt9 |
T |
A |
11: 100,079,547 (GRCm39) |
Y615F |
unknown |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Marco |
T |
C |
1: 120,421,814 (GRCm39) |
E130G |
probably damaging |
Het |
Ms4a18 |
A |
T |
19: 10,988,804 (GRCm39) |
L184Q |
probably damaging |
Het |
Mtus1 |
A |
T |
8: 41,535,923 (GRCm39) |
S598T |
probably damaging |
Het |
Nbeal2 |
C |
A |
9: 110,463,436 (GRCm39) |
R1265L |
probably damaging |
Het |
Odf2 |
G |
T |
2: 29,816,815 (GRCm39) |
G754C |
probably benign |
Het |
Or2m12 |
T |
G |
16: 19,105,100 (GRCm39) |
Y131S |
probably benign |
Het |
Or4x13 |
C |
A |
2: 90,231,917 (GRCm39) |
T304K |
probably benign |
Het |
Or5w11 |
T |
C |
2: 87,459,076 (GRCm39) |
S90P |
probably benign |
Het |
Or6c69b |
A |
T |
10: 129,626,789 (GRCm39) |
I223N |
probably damaging |
Het |
Paqr8 |
G |
A |
1: 21,005,128 (GRCm39) |
W94* |
probably null |
Het |
Pkd1 |
G |
A |
17: 24,813,932 (GRCm39) |
G4132D |
probably damaging |
Het |
Pom121l2 |
A |
G |
13: 22,168,506 (GRCm39) |
M926V |
probably benign |
Het |
Postn |
A |
T |
3: 54,273,336 (GRCm39) |
Y79F |
probably damaging |
Het |
Prl7d1 |
T |
C |
13: 27,893,182 (GRCm39) |
E242G |
probably benign |
Het |
Rcor3 |
G |
T |
1: 191,810,181 (GRCm39) |
H165Q |
possibly damaging |
Het |
Rnf157 |
A |
G |
11: 116,250,718 (GRCm39) |
V161A |
probably damaging |
Het |
Rnf38 |
G |
A |
4: 44,143,584 (GRCm39) |
T150M |
probably damaging |
Het |
Scn4b |
T |
A |
9: 45,058,013 (GRCm39) |
V35E |
probably damaging |
Het |
Serpina3i |
T |
C |
12: 104,231,672 (GRCm39) |
I103T |
probably damaging |
Het |
Shcbp1 |
T |
A |
8: 4,794,518 (GRCm39) |
D425V |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,852,658 (GRCm39) |
T776A |
possibly damaging |
Het |
Sipa1l3 |
T |
A |
7: 29,077,439 (GRCm39) |
T778S |
probably benign |
Het |
Slc13a1 |
A |
G |
6: 24,108,203 (GRCm39) |
V291A |
probably benign |
Het |
Stra6l |
A |
G |
4: 45,881,454 (GRCm39) |
I439V |
probably benign |
Het |
Tdrd7 |
G |
A |
4: 46,005,319 (GRCm39) |
S375N |
probably benign |
Het |
Tut7 |
A |
T |
13: 59,947,798 (GRCm39) |
M841K |
probably benign |
Het |
Vmn1r192 |
T |
A |
13: 22,372,191 (GRCm39) |
I10L |
probably benign |
Het |
Vmn2r34 |
T |
G |
7: 7,686,817 (GRCm39) |
L293F |
possibly damaging |
Het |
Xirp2 |
G |
T |
2: 67,347,322 (GRCm39) |
A3188S |
probably damaging |
Het |
Zfp219 |
A |
G |
14: 52,246,200 (GRCm39) |
V309A |
probably damaging |
Het |
Zfp341 |
C |
A |
2: 154,469,907 (GRCm39) |
P197T |
probably damaging |
Het |
Zfp628 |
G |
A |
7: 4,922,549 (GRCm39) |
R257H |
probably benign |
Het |
Zfp644 |
T |
G |
5: 106,784,324 (GRCm39) |
Y741S |
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 |
IGL02454:Siglecg
|
APN |
7 |
43,058,319 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTAAGATTCGCTATGGAGGGG -3'
(R):5'- TCGCCACCTTGCTAATACTG -3'
Sequencing Primer
(F):5'- CTCTGTGGTTAGAGCGAAGTC -3'
(R):5'- GCTAATACTGTTCCACCTGCC -3'
|
Posted On |
2022-03-25 |