Incidental Mutation 'R7884:Siglecg'
| ID |
608939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Siglecg
|
| Ensembl Gene |
ENSMUSG00000030468 |
| Gene Name |
sialic acid binding Ig-like lectin G |
| Synonyms |
mSiglec-G, A630096C01Rik |
| MMRRC Submission |
045936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R7884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43408204-43418358 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43409279 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 152
(V152A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005592]
|
| AlphaFold |
Q80ZE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005592
AA Change: V152A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: V152A
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
T |
C |
16: 38,602,231 (GRCm38) |
T1158A |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,260,514 (GRCm38) |
E1530G |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,226,264 (GRCm38) |
F113S |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,273,343 (GRCm38) |
S237R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 15,961,418 (GRCm38) |
N2545S |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 90,061,423 (GRCm38) |
D49G |
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,697 (GRCm38) |
Y172F |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,952,085 (GRCm38) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,893,407 (GRCm38) |
T1861A |
possibly damaging |
Het |
| Dnah7c |
C |
T |
1: 46,791,769 (GRCm38) |
L3813F |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,658,099 (GRCm38) |
I68V |
probably damaging |
Het |
| Etnk2 |
T |
C |
1: 133,365,700 (GRCm38) |
V127A |
possibly damaging |
Het |
| Fank1 |
G |
C |
7: 133,876,825 (GRCm38) |
R206P |
probably damaging |
Het |
| Fbxl9 |
A |
G |
8: 105,315,533 (GRCm38) |
I221T |
probably benign |
Het |
| Fbxw27 |
G |
A |
9: 109,789,400 (GRCm38) |
R73* |
probably null |
Het |
| Fndc1 |
A |
T |
17: 7,773,197 (GRCm38) |
S556T |
unknown |
Het |
| Gnb3 |
T |
C |
6: 124,837,092 (GRCm38) |
T178A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,036,055 (GRCm38) |
S57P |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,366,282 (GRCm38) |
L326Q |
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 80,098,329 (GRCm38) |
|
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,416,381 (GRCm38) |
|
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,336,989 (GRCm38) |
P995L |
probably benign |
Het |
| Lama1 |
G |
A |
17: 67,769,435 (GRCm38) |
G1068D |
|
Het |
| Lats1 |
A |
T |
10: 7,697,526 (GRCm38) |
K125* |
probably null |
Het |
| Lipg |
C |
T |
18: 74,948,007 (GRCm38) |
M334I |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,431,213 (GRCm38) |
E1905V |
probably damaging |
Het |
| Lpin1 |
C |
T |
12: 16,562,369 (GRCm38) |
G544D |
|
Het |
| Lyst |
A |
T |
13: 13,707,683 (GRCm38) |
N2853I |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,300,245 (GRCm38) |
I525T |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,371,204 (GRCm38) |
D170E |
probably benign |
Het |
| Mrpl34 |
T |
C |
8: 71,465,267 (GRCm38) |
V28A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,642,694 (GRCm38) |
V4101E |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,809,303 (GRCm38) |
G2117A |
unknown |
Het |
| Myo1f |
A |
G |
17: 33,598,296 (GRCm38) |
Y771C |
probably damaging |
Het |
| Nr2f1 |
G |
A |
13: 78,189,869 (GRCm38) |
T376I |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,313,255 (GRCm38) |
T2535A |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 102,176,349 (GRCm38) |
T428S |
probably benign |
Het |
| Omd |
A |
G |
13: 49,590,154 (GRCm38) |
M227V |
probably damaging |
Het |
| Osbpl7 |
A |
C |
11: 97,060,457 (GRCm38) |
I657L |
possibly damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,072,658 (GRCm38) |
V572A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,312,571 (GRCm38) |
V537A |
probably benign |
Het |
| Pou2f2 |
T |
C |
7: 25,116,064 (GRCm38) |
M93V |
probably benign |
Het |
| Ppip5k2 |
T |
C |
1: 97,740,482 (GRCm38) |
T640A |
probably benign |
Het |
| Ptar1 |
C |
T |
19: 23,708,794 (GRCm38) |
P157S |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 79,066,626 (GRCm38) |
D1471V |
possibly damaging |
Het |
| Rgs7 |
A |
T |
1: 175,149,650 (GRCm38) |
|
probably null |
Het |
| Rhag |
A |
G |
17: 40,831,645 (GRCm38) |
Y247C |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,239,371 (GRCm38) |
I305T |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,804,551 (GRCm38) |
I372T |
probably benign |
Het |
| Scn3a |
G |
T |
2: 65,536,515 (GRCm38) |
D54E |
probably damaging |
Het |
| Senp2 |
A |
G |
16: 22,014,231 (GRCm38) |
T90A |
probably benign |
Het |
| Serpinh1 |
C |
T |
7: 99,349,288 (GRCm38) |
R45H |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 125,447,598 (GRCm38) |
M1314L |
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,625,949 (GRCm38) |
F63S |
possibly damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,442,509 (GRCm38) |
L133Q |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 45,259,347 (GRCm38) |
E117G |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,521,346 (GRCm38) |
S1245P |
possibly damaging |
Het |
| Tmem235 |
G |
A |
11: 117,864,207 (GRCm38) |
V162M |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,392,516 (GRCm38) |
T2774A |
probably benign |
Het |
| Trav10n |
A |
T |
14: 53,122,130 (GRCm38) |
H6L |
probably benign |
Het |
| Trav13d-3 |
G |
A |
14: 53,033,247 (GRCm38) |
W55* |
probably null |
Het |
| Zfp654 |
G |
T |
16: 64,851,648 (GRCm38) |
A2E |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,220,866 (GRCm38) |
H726P |
probably damaging |
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 |
|
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 |
|
RF006:Siglecg
|
UTSW |
7 |
43,408,864 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Siglecg
|
UTSW |
7 |
43,412,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGTTCAGGCTACAAGTGG -3'
(R):5'- GCTCATTCTAGAGAAGTCCAGC -3'
Sequencing Primer
(F):5'- TTCAGGCTACAAGTGGAAGGTAAG -3'
(R):5'- CTGACATGTGAGCTCAGTATCATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation