Incidental Mutation 'RF006:Siglecg'
| ID |
602822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Siglecg
|
| Ensembl Gene |
ENSMUSG00000030468 |
| Gene Name |
sialic acid binding Ig-like lectin G |
| Synonyms |
mSiglec-G, A630096C01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
RF006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43408204-43418358 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 43408864 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 58
(Y58*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005592]
|
| AlphaFold |
Q80ZE3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005592
AA Change: Y58*
|
| SMART Domains |
Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: Y58*
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
97% (36/37) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700057G04Rik |
A |
T |
9: 92,352,649 (GRCm38) |
I146F |
possibly damaging |
Het |
| 4930548H24Rik |
C |
T |
5: 31,487,550 (GRCm38) |
Q216* |
probably null |
Het |
| Acbd7 |
GTT |
GT |
2: 3,340,699 (GRCm38) |
|
probably null |
Het |
| Acp7 |
A |
T |
7: 28,614,779 (GRCm38) |
N330K |
possibly damaging |
Het |
| Adam25 |
A |
T |
8: 40,755,797 (GRCm38) |
H700L |
probably benign |
Het |
| Alg9 |
GGGTGG |
GGGTGGTGG |
9: 50,775,417 (GRCm38) |
|
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,526,236 (GRCm38) |
V689E |
probably benign |
Het |
| Atxn2l |
A |
G |
7: 126,495,891 (GRCm38) |
V533A |
probably benign |
Het |
| C87414 |
A |
T |
5: 93,636,703 (GRCm38) |
C301S |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,575,979 (GRCm38) |
|
probably null |
Het |
| Ccdc13 |
T |
C |
9: 121,814,207 (GRCm38) |
K376R |
probably damaging |
Het |
| Ccdc170 |
C |
CCAA |
10: 4,561,030 (GRCm38) |
|
probably benign |
Het |
| Cdh9 |
G |
C |
15: 16,855,830 (GRCm38) |
R652P |
probably damaging |
Het |
| Cenpf |
A |
C |
1: 189,657,386 (GRCm38) |
C1416W |
probably damaging |
Het |
| Chga |
GCA |
GCATCA |
12: 102,561,412 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGA |
CCCAGGGATGTGAGAGACACGCTGGCCAGGGA |
9: 87,040,441 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
TGTGACAGACACACTGCCCAGGGAAG |
TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG |
9: 87,040,425 (GRCm38) |
|
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,547,592 (GRCm38) |
I744T |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,307,875 (GRCm38) |
R491Q |
probably benign |
Het |
| Eif4a2 |
A |
T |
16: 23,110,278 (GRCm38) |
M188L |
possibly damaging |
Het |
| Esf1 |
CTCCTCTTC |
CTC |
2: 140,164,374 (GRCm38) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,998,617 (GRCm38) |
I2030V |
probably benign |
Het |
| Gab3 |
CTT |
CTTTTT |
X: 75,000,027 (GRCm38) |
|
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,227,167 (GRCm38) |
V195E |
possibly damaging |
Het |
| Gm17402 |
TCCTCCTCC |
TCCTCCTCCCCCTCCTCC |
3: 67,365,559 (GRCm38) |
|
probably benign |
Het |
| Gm17604 |
CTCTCTTTC |
CTC |
X: 165,003,818 (GRCm38) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,511,764 (GRCm38) |
|
probably benign |
Het |
| Gnpnat1 |
T |
A |
14: 45,383,443 (GRCm38) |
|
probably null |
Het |
| Inpp4a |
A |
C |
1: 37,388,827 (GRCm38) |
N651T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,881,484 (GRCm38) |
F81L |
possibly damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,239,928 (GRCm38) |
|
probably null |
Het |
| Kmt2b |
CTCCTC |
CTCCTCATCCTC |
7: 30,586,377 (GRCm38) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGCTGTGG |
5: 25,315,772 (GRCm38) |
|
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,797,773 (GRCm38) |
S405P |
probably damaging |
Het |
| Net1 |
T |
C |
13: 3,887,406 (GRCm38) |
T245A |
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,533,547 (GRCm38) |
T203A |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,774,100 (GRCm38) |
E75G |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,323,873 (GRCm38) |
D1491E |
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,503,238 (GRCm38) |
T704K |
probably benign |
Het |
| Pkhd1l1 |
TT |
TTTTTTTTTGT |
15: 44,558,507 (GRCm38) |
|
probably benign |
Het |
| Ppp1r8 |
TCTCTCAC |
TC |
4: 132,830,617 (GRCm38) |
|
probably benign |
Het |
| Ppp2r3c |
T |
A |
12: 55,293,815 (GRCm38) |
I157F |
probably benign |
Het |
| Rspo4 |
C |
T |
2: 151,867,877 (GRCm38) |
|
probably null |
Het |
| Rtn4 |
T |
C |
11: 29,706,919 (GRCm38) |
S358P |
possibly damaging |
Het |
| Slc4a1 |
C |
T |
11: 102,356,716 (GRCm38) |
|
probably null |
Het |
| Slc9b1 |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
3: 135,357,542 (GRCm38) |
|
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,442,276 (GRCm38) |
D64E |
probably benign |
Het |
| Spaca1 |
CTCGC |
CTCGCTATCGC |
4: 34,049,853 (GRCm38) |
|
probably benign |
Het |
| Srrm2 |
A |
G |
17: 23,812,588 (GRCm38) |
S236G |
unknown |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
| Strn |
TGCTCCCTTACCCCAGTC |
TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC |
17: 78,677,271 (GRCm38) |
|
probably null |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 47,786,113 (GRCm38) |
|
probably benign |
Het |
| Tktl2 |
A |
T |
8: 66,512,852 (GRCm38) |
E354V |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,306,943 (GRCm38) |
T94A |
probably benign |
Het |
| Usp40 |
A |
C |
1: 87,967,195 (GRCm38) |
S868A |
possibly damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,806,419 (GRCm38) |
C526Y |
probably damaging |
Het |
| Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,836,959 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Siglecg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00528:Siglecg
|
APN |
7 |
43,409,057 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL00556:Siglecg
|
APN |
7 |
43,411,795 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01806:Siglecg
|
APN |
7 |
43,411,464 (GRCm38) |
splice site |
probably null |
|
|
IGL01947:Siglecg
|
APN |
7 |
43,408,763 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02257:Siglecg
|
APN |
7 |
43,411,904 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02410:Siglecg
|
APN |
7 |
43,408,829 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02454:Siglecg
|
APN |
7 |
43,408,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
Chamonix
|
UTSW |
7 |
43,409,422 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
Dollywood
|
UTSW |
7 |
43,411,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
glowworm
|
UTSW |
7 |
43,408,579 (GRCm38) |
missense |
probably benign |
0.04 |
|
Montblanc
|
UTSW |
7 |
43,411,386 (GRCm38) |
intron |
probably benign |
|
|
Shenandoah
|
UTSW |
7 |
43,408,802 (GRCm38) |
missense |
probably damaging |
0.99 |
|
shenandoah2
|
UTSW |
7 |
43,412,017 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
Sherando
|
UTSW |
7 |
43,409,057 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
Smokies
|
UTSW |
7 |
43,409,279 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02988:Siglecg
|
UTSW |
7 |
43,418,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0134:Siglecg
|
UTSW |
7 |
43,411,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0225:Siglecg
|
UTSW |
7 |
43,411,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0480:Siglecg
|
UTSW |
7 |
43,411,126 (GRCm38) |
missense |
probably benign |
0.42 |
|
R1538:Siglecg
|
UTSW |
7 |
43,417,889 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1681:Siglecg
|
UTSW |
7 |
43,408,941 (GRCm38) |
missense |
probably benign |
0.17 |
|
R2358:Siglecg
|
UTSW |
7 |
43,409,422 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4428:Siglecg
|
UTSW |
7 |
43,417,926 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R4429:Siglecg
|
UTSW |
7 |
43,417,926 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R4736:Siglecg
|
UTSW |
7 |
43,417,908 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4754:Siglecg
|
UTSW |
7 |
43,411,871 (GRCm38) |
intron |
probably benign |
|
|
R5017:Siglecg
|
UTSW |
7 |
43,411,386 (GRCm38) |
intron |
probably benign |
|
|
R5713:Siglecg
|
UTSW |
7 |
43,408,802 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5777:Siglecg
|
UTSW |
7 |
43,409,413 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5892:Siglecg
|
UTSW |
7 |
43,412,204 (GRCm38) |
intron |
probably benign |
|
|
R6153:Siglecg
|
UTSW |
7 |
43,412,017 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6154:Siglecg
|
UTSW |
7 |
43,412,017 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6331:Siglecg
|
UTSW |
7 |
43,408,754 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6562:Siglecg
|
UTSW |
7 |
43,409,057 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6749:Siglecg
|
UTSW |
7 |
43,408,979 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7066:Siglecg
|
UTSW |
7 |
43,411,742 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7884:Siglecg
|
UTSW |
7 |
43,409,279 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8275:Siglecg
|
UTSW |
7 |
43,412,468 (GRCm38) |
missense |
probably benign |
|
|
R8554:Siglecg
|
UTSW |
7 |
43,408,896 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8846:Siglecg
|
UTSW |
7 |
43,412,518 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8873:Siglecg
|
UTSW |
7 |
43,418,024 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8887:Siglecg
|
UTSW |
7 |
43,408,584 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9012:Siglecg
|
UTSW |
7 |
43,411,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9032:Siglecg
|
UTSW |
7 |
43,411,625 (GRCm38) |
missense |
probably benign |
0.24 |
|
R9048:Siglecg
|
UTSW |
7 |
43,408,579 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9085:Siglecg
|
UTSW |
7 |
43,411,625 (GRCm38) |
missense |
probably benign |
0.24 |
|
R9313:Siglecg
|
UTSW |
7 |
43,412,432 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9320:Siglecg
|
UTSW |
7 |
43,409,429 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9745:Siglecg
|
UTSW |
7 |
43,418,052 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Siglecg
|
UTSW |
7 |
43,412,022 (GRCm38) |
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'- CCCACTGAACATCTTTGATTAGCAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation