Incidental Mutation 'R7066:Siglecg'
| ID |
548568 |
| 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 |
045162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R7066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43057623-43067773 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43061166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 413
(E413G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005592]
|
| AlphaFold |
Q80ZE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005592
AA Change: E413G
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: E413G
| 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: 99.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,904,514 (GRCm39) |
V175A |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,659,652 (GRCm39) |
V880E |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,621,151 (GRCm39) |
F463I |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,190,823 (GRCm39) |
E249D |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,885,553 (GRCm39) |
D686G |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 30,074,935 (GRCm39) |
|
probably benign |
Het |
| Cdc42ep4 |
A |
G |
11: 113,620,044 (GRCm39) |
S116P |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,466,880 (GRCm39) |
V463A |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,059,192 (GRCm39) |
D297G |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,235 (GRCm39) |
V5656E |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,213,490 (GRCm39) |
T469A |
probably benign |
Het |
| Gm21663 |
C |
G |
5: 26,146,259 (GRCm39) |
|
probably null |
Het |
| Iqch |
A |
G |
9: 63,432,027 (GRCm39) |
V456A |
probably benign |
Het |
| Lpcat1 |
A |
C |
13: 73,659,500 (GRCm39) |
I373L |
probably benign |
Het |
| Morc2b |
C |
T |
17: 33,355,610 (GRCm39) |
V721I |
probably benign |
Het |
| Mrgprb1 |
C |
T |
7: 48,097,424 (GRCm39) |
V163M |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,229,972 (GRCm39) |
I142V |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,569,317 (GRCm39) |
S1067R |
unknown |
Het |
| Myh14 |
T |
C |
7: 44,280,179 (GRCm39) |
S892G |
possibly damaging |
Het |
| Mylk2 |
C |
T |
2: 152,753,588 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
A |
T |
7: 12,777,490 (GRCm39) |
V638E |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,372,934 (GRCm39) |
V156I |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,447,546 (GRCm39) |
E2450G |
probably damaging |
Het |
| Or14j3 |
T |
A |
17: 37,901,034 (GRCm39) |
D70V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,668,018 (GRCm39) |
I45T |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,406,047 (GRCm39) |
T8A |
probably damaging |
Het |
| Or4f60 |
G |
A |
2: 111,902,541 (GRCm39) |
P129L |
probably damaging |
Het |
| Or5t7 |
T |
A |
2: 86,507,570 (GRCm39) |
T36S |
possibly damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,373 (GRCm39) |
L283S |
probably damaging |
Het |
| Or8g54 |
A |
G |
9: 39,707,420 (GRCm39) |
I250V |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,067,002 (GRCm39) |
D52G |
probably damaging |
Het |
| P4htm |
T |
G |
9: 108,474,162 (GRCm39) |
K125N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,301,434 (GRCm39) |
T240A |
probably benign |
Het |
| Pcolce2 |
T |
C |
9: 95,563,674 (GRCm39) |
V220A |
probably benign |
Het |
| Pcyox1 |
A |
T |
6: 86,371,478 (GRCm39) |
I136N |
probably damaging |
Het |
| Pde4b |
A |
G |
4: 102,460,003 (GRCm39) |
S395G |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,711,856 (GRCm39) |
R1122L |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,261,814 (GRCm39) |
V922A |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,293,502 (GRCm39) |
N118S |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,229 (GRCm39) |
V1216D |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rlf |
T |
C |
4: 121,005,984 (GRCm39) |
M999V |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Sema5b |
A |
C |
16: 35,471,682 (GRCm39) |
D425A |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,656,111 (GRCm39) |
N288K |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,860,991 (GRCm39) |
D210G |
probably benign |
Het |
| Umps |
A |
T |
16: 33,782,103 (GRCm39) |
L273* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,853,805 (GRCm39) |
V385D |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,192,477 (GRCm39) |
T676A |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,346,718 (GRCm39) |
H1699R |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
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 |
|
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'- ATCCTCAGGAATGCCATCTCCC -3'
(R):5'- ACTGTGAAGGAGGCATTGCTG -3'
Sequencing Primer
(F):5'- GGAATGCCATCTCCCTCCCAG -3'
(R):5'- AGTTGCAGTGCAGACCCTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation