Incidental Mutation 'R5713:Siglecg'
| ID |
450991 |
| 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 |
043335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43057623-43067773 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43058226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 38
(I38F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005592]
|
| AlphaFold |
Q80ZE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005592
AA Change: I38F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: I38F
| 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
|
| Meta Mutation Damage Score |
0.2470 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,889,414 (GRCm39) |
Y431* |
probably null |
Het |
| Abtb3 |
A |
T |
10: 85,487,516 (GRCm39) |
I995F |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,091 (GRCm39) |
R1515S |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,651 (GRCm39) |
V63A |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,682,928 (GRCm39) |
P473S |
probably damaging |
Het |
| Casp3 |
C |
A |
8: 47,089,349 (GRCm39) |
T199K |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,540,066 (GRCm39) |
C13Y |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,911,975 (GRCm39) |
S518P |
probably benign |
Het |
| Clic3 |
A |
T |
2: 25,348,179 (GRCm39) |
I109F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,916,049 (GRCm39) |
D2301V |
possibly damaging |
Het |
| Gm26627 |
A |
G |
6: 29,507,850 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
A |
T |
7: 104,471,000 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
A |
C |
2: 34,903,543 (GRCm39) |
I1037S |
probably damaging |
Het |
| Il2rb |
A |
G |
15: 78,376,048 (GRCm39) |
M1T |
probably null |
Het |
| Ing5 |
T |
A |
1: 93,740,452 (GRCm39) |
D124E |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,248,793 (GRCm39) |
E90G |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,836,949 (GRCm39) |
I522N |
probably benign |
Het |
| Lipa |
A |
T |
19: 34,500,832 (GRCm39) |
H71Q |
probably benign |
Het |
| Lmnb2 |
C |
T |
10: 80,741,921 (GRCm39) |
V57M |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,448 (GRCm39) |
M200K |
probably benign |
Het |
| Mtpap |
G |
A |
18: 4,396,280 (GRCm39) |
S524N |
probably benign |
Het |
| Mup21 |
C |
G |
4: 62,068,511 (GRCm39) |
E52Q |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,558 (GRCm39) |
F90L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,661,237 (GRCm39) |
D343G |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,219,870 (GRCm39) |
F237I |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,446,184 (GRCm39) |
I103T |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,114,813 (GRCm39) |
S430T |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,508,669 (GRCm39) |
N843D |
possibly damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,183 (GRCm39) |
M37K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,935,060 (GRCm39) |
I864V |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,435,910 (GRCm39) |
T130A |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rps29 |
C |
A |
12: 69,205,502 (GRCm39) |
R32L |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,851 (GRCm39) |
E226G |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,880,853 (GRCm39) |
M308L |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,266,283 (GRCm39) |
V631A |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,792,545 (GRCm39) |
*58W |
probably null |
Het |
| Trgc2 |
T |
A |
13: 19,491,515 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,293,515 (GRCm39) |
V203E |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,290 (GRCm39) |
L411P |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,597,476 (GRCm39) |
D42E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGTCACTGCTGCTGTTCC -3'
(R):5'- TTGAGTCTCCCCACTGAACATC -3'
Sequencing Primer
(F):5'- CCAGAGTGGCTCAAATTGGG -3'
(R):5'- TTTAGAGATATCCCCCAAGAGCTGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation