Incidental Mutation 'R6562:Siglecg'
ID |
522455 |
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 |
044686-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R6562 (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 43058481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 123
(R123G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005592]
|
AlphaFold |
Q80ZE3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005592
AA Change: R123G
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000005592 Gene: ENSMUSG00000030468 AA Change: R123G
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 |
0.6898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
Validation Efficiency |
100% (60/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
A |
G |
3: 89,970,543 (GRCm39) |
K26E |
probably benign |
Het |
Abt1 |
T |
G |
13: 23,607,758 (GRCm39) |
E82A |
probably damaging |
Het |
Actr8 |
A |
G |
14: 29,708,411 (GRCm39) |
|
probably null |
Het |
Akap12 |
G |
T |
10: 4,306,141 (GRCm39) |
E984* |
probably null |
Het |
Ankrd13a |
C |
A |
5: 114,942,453 (GRCm39) |
|
probably benign |
Het |
Ankrd13c |
T |
A |
3: 157,705,309 (GRCm39) |
S411T |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,124,647 (GRCm39) |
|
probably null |
Het |
Arhgef3 |
A |
T |
14: 26,874,953 (GRCm39) |
|
probably benign |
Het |
Atad5 |
T |
C |
11: 80,024,032 (GRCm39) |
S1712P |
probably benign |
Het |
Bbs12 |
A |
G |
3: 37,374,389 (GRCm39) |
E394G |
probably damaging |
Het |
Ccdc158 |
T |
G |
5: 92,810,581 (GRCm39) |
K102N |
probably damaging |
Het |
Ccdc169 |
A |
G |
3: 55,058,235 (GRCm39) |
N89S |
probably damaging |
Het |
Cd200l1 |
C |
T |
16: 45,264,442 (GRCm39) |
E39K |
probably benign |
Het |
Cenpu |
T |
C |
8: 47,025,858 (GRCm39) |
I132T |
possibly damaging |
Het |
Cnrip1 |
G |
A |
11: 17,028,539 (GRCm39) |
W157* |
probably null |
Het |
Ctnnd1 |
A |
G |
2: 84,454,652 (GRCm39) |
S53P |
probably benign |
Het |
Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,879,647 (GRCm39) |
V969D |
probably damaging |
Het |
Ehd2 |
C |
A |
7: 15,691,492 (GRCm39) |
R280L |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,432,974 (GRCm39) |
T218A |
probably damaging |
Het |
Fcrl2 |
A |
C |
3: 87,164,635 (GRCm39) |
I297S |
probably benign |
Het |
Frmpd2 |
T |
A |
14: 33,293,872 (GRCm39) |
L1346Q |
probably benign |
Het |
Fry |
T |
C |
5: 150,249,614 (GRCm39) |
S142P |
probably damaging |
Het |
Gbgt1 |
A |
T |
2: 28,394,898 (GRCm39) |
I179F |
probably damaging |
Het |
Gm17067 |
A |
T |
7: 42,358,153 (GRCm39) |
S116R |
probably damaging |
Het |
Gm5565 |
G |
T |
5: 146,094,964 (GRCm39) |
P261T |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,401,803 (GRCm39) |
F391L |
probably benign |
Het |
Kcnmb4 |
A |
T |
10: 116,309,089 (GRCm39) |
|
probably null |
Het |
Krt6a |
T |
A |
15: 101,600,094 (GRCm39) |
H386L |
probably benign |
Het |
L3mbtl1 |
C |
T |
2: 162,812,124 (GRCm39) |
T723I |
probably benign |
Het |
Lamb2 |
A |
T |
9: 108,364,207 (GRCm39) |
R1049W |
possibly damaging |
Het |
Lrmda |
T |
C |
14: 22,648,254 (GRCm39) |
|
probably benign |
Het |
Lysmd2 |
C |
T |
9: 75,542,691 (GRCm39) |
T95I |
unknown |
Het |
Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
Nin |
T |
C |
12: 70,102,728 (GRCm39) |
D300G |
probably damaging |
Het |
Nutf2 |
G |
T |
8: 106,602,258 (GRCm39) |
D23Y |
probably benign |
Het |
Or6c211 |
G |
A |
10: 129,506,008 (GRCm39) |
P127S |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,887,589 (GRCm39) |
Y300C |
probably damaging |
Het |
Pgghg |
A |
G |
7: 140,526,506 (GRCm39) |
I633V |
probably benign |
Het |
Pik3r3 |
C |
T |
4: 116,157,006 (GRCm39) |
Q496* |
probably null |
Het |
Pkn3 |
G |
T |
2: 29,970,699 (GRCm39) |
|
probably null |
Het |
Plin2 |
A |
T |
4: 86,576,832 (GRCm39) |
S298T |
probably benign |
Het |
Prdm8 |
T |
C |
5: 98,331,202 (GRCm39) |
V18A |
possibly damaging |
Het |
Rel |
C |
A |
11: 23,707,026 (GRCm39) |
G59* |
probably null |
Het |
Slc13a1 |
T |
A |
6: 24,150,792 (GRCm39) |
I49F |
probably benign |
Het |
Slc39a10 |
T |
A |
1: 46,874,724 (GRCm39) |
T193S |
probably benign |
Het |
Slc9a3 |
T |
A |
13: 74,303,280 (GRCm39) |
V191E |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,721,443 (GRCm39) |
T1246S |
possibly damaging |
Het |
Sult2b1 |
A |
C |
7: 45,391,670 (GRCm39) |
S39A |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,460,650 (GRCm39) |
T185A |
probably benign |
Het |
Tmem67 |
A |
G |
4: 12,053,445 (GRCm39) |
|
probably null |
Het |
Trim12c |
A |
T |
7: 103,994,341 (GRCm39) |
|
probably null |
Het |
Trpm6 |
T |
A |
19: 18,815,406 (GRCm39) |
F1164Y |
probably damaging |
Het |
Ube2d1 |
C |
T |
10: 71,098,071 (GRCm39) |
D16N |
probably benign |
Het |
Vmn2r24 |
A |
T |
6: 123,757,386 (GRCm39) |
I85F |
probably benign |
Het |
Vwde |
T |
A |
6: 13,193,122 (GRCm39) |
N406Y |
possibly damaging |
Het |
Wdr54 |
A |
T |
6: 83,132,050 (GRCm39) |
|
probably null |
Het |
Zcchc14 |
A |
T |
8: 122,330,842 (GRCm39) |
N840K |
probably damaging |
Het |
Zfp451 |
C |
A |
1: 33,801,260 (GRCm39) |
S1052I |
possibly damaging |
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 |
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'- CCTGAGGGAAAATGGCTTAACC -3'
(R):5'- TACCAATCCTGTGACTCCAGC -3'
Sequencing Primer
(F):5'- ATGGCTACTGGTTCAAAGGCATC -3'
(R):5'- CGGCTCCTCCCAGAAGTAGTC -3'
|
Posted On |
2018-06-06 |