Incidental Mutation 'R5892:Siglecg'
ID |
457243 |
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 |
044093-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5892 (G1)
|
Quality Score |
132 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
43057623-43067773 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to A
at 43061628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005592]
|
AlphaFold |
Q80ZE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005592
|
SMART Domains |
Protein: ENSMUSP00000005592 Gene: ENSMUSG00000030468
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
98% (56/57) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930524J08Rik |
G |
T |
5: 100,127,124 (GRCm39) |
|
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,091,844 (GRCm39) |
A893T |
probably damaging |
Het |
Adtrp |
A |
T |
13: 41,981,682 (GRCm39) |
N30K |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,597,885 (GRCm39) |
S904T |
probably damaging |
Het |
Cep170 |
T |
A |
1: 176,582,953 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,946,994 (GRCm39) |
V145A |
probably damaging |
Het |
Dclre1a |
T |
C |
19: 56,535,572 (GRCm39) |
E4G |
probably benign |
Het |
Depdc1a |
G |
C |
3: 159,232,306 (GRCm39) |
A686P |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,376,753 (GRCm39) |
|
probably null |
Het |
Enox1 |
A |
G |
14: 77,723,457 (GRCm39) |
|
probably benign |
Het |
Fam107b |
A |
G |
2: 3,779,601 (GRCm39) |
E268G |
probably damaging |
Het |
Fer1l6 |
A |
G |
15: 58,435,917 (GRCm39) |
S437G |
probably benign |
Het |
Flnb |
C |
A |
14: 7,907,183 (GRCm38) |
T1252K |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,923,951 (GRCm39) |
|
probably benign |
Het |
Gm20402 |
G |
A |
3: 52,176,370 (GRCm39) |
A50T |
probably benign |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Gzmk |
C |
T |
13: 113,310,456 (GRCm39) |
|
probably null |
Het |
Ino80 |
A |
T |
2: 119,270,028 (GRCm39) |
|
probably benign |
Het |
Ints8 |
T |
C |
4: 11,223,813 (GRCm39) |
T677A |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,428,305 (GRCm39) |
E1220G |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,890,204 (GRCm39) |
T498A |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,273,120 (GRCm39) |
T4043S |
probably benign |
Het |
Malrd1 |
A |
G |
2: 15,619,078 (GRCm39) |
N314S |
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,497,162 (GRCm39) |
|
probably null |
Het |
Muc1 |
C |
T |
3: 89,138,300 (GRCm39) |
P381S |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,076,002 (GRCm39) |
K730* |
probably null |
Het |
Nat3 |
T |
A |
8: 68,000,590 (GRCm39) |
N156K |
probably benign |
Het |
Nelfe |
T |
C |
17: 35,073,645 (GRCm39) |
|
probably benign |
Het |
Nlrp1a |
A |
T |
11: 70,990,471 (GRCm39) |
L927Q |
probably damaging |
Het |
P4ha2 |
A |
G |
11: 54,011,014 (GRCm39) |
Y343C |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,571,185 (GRCm39) |
Q190L |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,945,439 (GRCm39) |
N183S |
probably damaging |
Het |
Plekha2 |
C |
T |
8: 25,542,381 (GRCm39) |
V278I |
probably benign |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
Ppox |
C |
T |
1: 171,105,034 (GRCm39) |
V385I |
probably damaging |
Het |
Prdm16 |
T |
C |
4: 154,407,716 (GRCm39) |
D1170G |
possibly damaging |
Het |
Prmt5 |
A |
T |
14: 54,747,368 (GRCm39) |
S470T |
probably damaging |
Het |
Robo2 |
T |
A |
16: 73,692,668 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,949,810 (GRCm39) |
N367S |
probably damaging |
Het |
Tex29 |
C |
T |
8: 11,904,288 (GRCm39) |
|
probably benign |
Het |
Tmem117 |
T |
A |
15: 94,536,020 (GRCm39) |
V18E |
probably damaging |
Het |
Tmtc2 |
C |
T |
10: 105,249,366 (GRCm39) |
M122I |
probably benign |
Het |
Tpr |
T |
A |
1: 150,283,151 (GRCm39) |
N287K |
probably benign |
Het |
Unc93b1 |
A |
T |
19: 3,993,632 (GRCm39) |
D358V |
probably damaging |
Het |
Vrk2 |
A |
T |
11: 26,484,372 (GRCm39) |
|
probably benign |
Het |
Wdr24 |
A |
T |
17: 26,046,960 (GRCm39) |
Q671L |
probably benign |
Het |
Zfp110 |
C |
T |
7: 12,582,405 (GRCm39) |
T351I |
probably benign |
Het |
Zfp963 |
T |
C |
8: 70,196,027 (GRCm39) |
D142G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGCCTCCTTCACAGTCAC -3'
(R):5'- AGGAATGGGCATATCCTATGTG -3'
Sequencing Primer
(F):5'- AGTCACTTTCAGCTCACTTGGAC -3'
(R):5'- AATGGGCATATCCTATGTGTGTGC -3'
|
Posted On |
2017-02-15 |