Incidental Mutation 'R4679:Siglec1'
| ID |
349893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Siglec1
|
| Ensembl Gene |
ENSMUSG00000027322 |
| Gene Name |
sialic acid binding Ig-like lectin 1, sialoadhesin |
| Synonyms |
Sn, CD169, Siglec-1 |
| MMRRC Submission |
041932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130911140-130928685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130915331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1420
(L1420Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028794]
[ENSMUST00000110227]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028794
AA Change: L1420Q
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: L1420Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IG
|
32 |
142 |
2.92e-5 |
SMART |
|
Pfam:C2-set_2
|
148 |
235 |
9.4e-18 |
PFAM |
|
IGc2
|
260 |
319 |
8.78e-9 |
SMART |
|
IGc2
|
344 |
404 |
4.07e-4 |
SMART |
|
IGc2
|
431 |
505 |
3.3e-4 |
SMART |
|
IGc2
|
529 |
589 |
5.75e-4 |
SMART |
|
IGc2
|
622 |
698 |
3.54e-4 |
SMART |
|
low complexity region
|
700 |
705 |
N/A |
INTRINSIC |
|
IG
|
716 |
795 |
3.35e-5 |
SMART |
|
IG
|
804 |
896 |
6.51e-3 |
SMART |
|
IGc2
|
909 |
969 |
4.13e-5 |
SMART |
|
IG_like
|
1001 |
1076 |
6.78e-2 |
SMART |
|
low complexity region
|
1077 |
1088 |
N/A |
INTRINSIC |
|
IG
|
1094 |
1171 |
4.32e-8 |
SMART |
|
IG_like
|
1185 |
1250 |
1.94e-2 |
SMART |
|
IG
|
1268 |
1345 |
1.36e-5 |
SMART |
|
IG_like
|
1354 |
1447 |
1.45e1 |
SMART |
|
IG_like
|
1365 |
1435 |
4.51e-2 |
SMART |
|
IG
|
1454 |
1534 |
4.56e-7 |
SMART |
|
IG_like
|
1549 |
1624 |
1.21e-1 |
SMART |
|
transmembrane domain
|
1647 |
1669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110227
AA Change: L1420Q
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: L1420Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IG
|
32 |
142 |
2.92e-5 |
SMART |
|
Pfam:C2-set_2
|
148 |
235 |
7e-17 |
PFAM |
|
IGc2
|
260 |
319 |
8.78e-9 |
SMART |
|
IGc2
|
344 |
404 |
4.07e-4 |
SMART |
|
IGc2
|
431 |
505 |
3.3e-4 |
SMART |
|
IGc2
|
529 |
589 |
5.75e-4 |
SMART |
|
IGc2
|
622 |
698 |
3.54e-4 |
SMART |
|
low complexity region
|
700 |
705 |
N/A |
INTRINSIC |
|
IG
|
716 |
795 |
3.35e-5 |
SMART |
|
IG
|
804 |
896 |
6.51e-3 |
SMART |
|
IGc2
|
909 |
969 |
4.13e-5 |
SMART |
|
IG_like
|
1001 |
1076 |
6.78e-2 |
SMART |
|
low complexity region
|
1077 |
1088 |
N/A |
INTRINSIC |
|
IG
|
1094 |
1171 |
4.32e-8 |
SMART |
|
IG_like
|
1185 |
1250 |
1.94e-2 |
SMART |
|
IG
|
1268 |
1345 |
1.36e-5 |
SMART |
|
IG_like
|
1354 |
1447 |
1.45e1 |
SMART |
|
IG_like
|
1365 |
1435 |
4.51e-2 |
SMART |
|
IG
|
1454 |
1534 |
4.56e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
98% (112/114) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
T |
A |
1: 130,670,140 (GRCm39) |
S121T |
possibly damaging |
Het |
| Abcb9 |
A |
G |
5: 124,216,867 (GRCm39) |
V450A |
probably benign |
Het |
| Abcg1 |
A |
T |
17: 31,333,235 (GRCm39) |
R659S |
probably benign |
Het |
| Acad9 |
A |
T |
3: 36,142,989 (GRCm39) |
N508I |
possibly damaging |
Het |
| Acrbp |
T |
A |
6: 125,037,881 (GRCm39) |
C393S |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,044,565 (GRCm39) |
V486A |
probably benign |
Het |
| Adgrf1 |
G |
T |
17: 43,621,384 (GRCm39) |
L540F |
probably damaging |
Het |
| Ap5m1 |
T |
C |
14: 49,316,285 (GRCm39) |
I285T |
probably benign |
Het |
| Arhgap27 |
G |
T |
11: 103,251,775 (GRCm39) |
|
probably benign |
Het |
| Armc5 |
A |
T |
7: 127,839,276 (GRCm39) |
E198V |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,365,955 (GRCm39) |
K742M |
probably benign |
Het |
| Atp9a |
T |
G |
2: 168,503,884 (GRCm39) |
T603P |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,987,329 (GRCm39) |
S2808P |
unknown |
Het |
| C9orf72 |
C |
T |
4: 35,226,033 (GRCm39) |
|
probably benign |
Het |
| Catsper4 |
T |
C |
4: 133,953,916 (GRCm39) |
N81S |
probably damaging |
Het |
| Ccl17 |
C |
G |
8: 95,537,128 (GRCm39) |
T10S |
probably benign |
Het |
| Cdc123 |
A |
T |
2: 5,849,703 (GRCm39) |
V6D |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,415 (GRCm39) |
K14E |
possibly damaging |
Het |
| Cdh3 |
C |
A |
8: 107,266,488 (GRCm39) |
T302K |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,851,045 (GRCm39) |
M605V |
probably benign |
Het |
| Cdk4 |
A |
G |
10: 126,900,780 (GRCm39) |
E144G |
possibly damaging |
Het |
| Clasp1 |
C |
T |
1: 118,471,001 (GRCm39) |
A879V |
probably damaging |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,970,536 (GRCm39) |
D518G |
probably benign |
Het |
| Cog1 |
C |
T |
11: 113,543,116 (GRCm39) |
A208V |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,481,337 (GRCm39) |
H836Q |
possibly damaging |
Het |
| Copb1 |
T |
C |
7: 113,848,211 (GRCm39) |
D108G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,024,479 (GRCm39) |
Y600* |
probably null |
Het |
| Cyb5r1 |
T |
A |
1: 134,335,571 (GRCm39) |
H164Q |
probably benign |
Het |
| Dkc1 |
A |
G |
X: 74,144,598 (GRCm39) |
I215V |
probably benign |
Het |
| Enpep |
A |
G |
3: 129,097,362 (GRCm39) |
|
probably null |
Het |
| Fam110d |
A |
G |
4: 133,978,747 (GRCm39) |
S244P |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,736,806 (GRCm39) |
Y311C |
probably damaging |
Het |
| Fign |
A |
C |
2: 63,809,605 (GRCm39) |
L555R |
probably damaging |
Het |
| Fkbp7 |
A |
T |
2: 76,502,032 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,330,728 (GRCm39) |
S373P |
unknown |
Het |
| Frmd4b |
C |
T |
6: 97,272,627 (GRCm39) |
D868N |
possibly damaging |
Het |
| Garin3 |
T |
A |
11: 46,295,640 (GRCm39) |
M4K |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,714,564 (GRCm39) |
N321S |
probably benign |
Het |
| Glmn |
G |
T |
5: 107,708,941 (GRCm39) |
T372K |
probably damaging |
Het |
| Gm26602 |
C |
T |
10: 79,746,808 (GRCm39) |
|
probably benign |
Het |
| Gm6797 |
A |
G |
X: 8,505,933 (GRCm39) |
|
noncoding transcript |
Het |
| Gpat3 |
T |
A |
5: 101,041,322 (GRCm39) |
F383L |
probably damaging |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Hcn1 |
C |
T |
13: 117,793,551 (GRCm39) |
H268Y |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,463,314 (GRCm39) |
C2345F |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,977,424 (GRCm39) |
D770G |
probably benign |
Het |
| Ints3 |
T |
C |
3: 90,315,817 (GRCm39) |
T316A |
possibly damaging |
Het |
| Ipo9 |
A |
G |
1: 135,321,907 (GRCm39) |
F608L |
probably benign |
Het |
| Irak1 |
A |
C |
X: 73,065,995 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,881,508 (GRCm39) |
Q488L |
possibly damaging |
Het |
| Large2 |
A |
T |
2: 92,197,903 (GRCm39) |
L266Q |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,903,365 (GRCm39) |
D327A |
probably damaging |
Het |
| Mamstr |
C |
A |
7: 45,294,116 (GRCm39) |
|
probably benign |
Het |
| Mettl14 |
G |
A |
3: 123,163,063 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
A |
G |
3: 152,028,112 (GRCm39) |
V139A |
probably damaging |
Het |
| Mthfd2l |
A |
C |
5: 91,096,770 (GRCm39) |
R130S |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,797,132 (GRCm39) |
I970T |
possibly damaging |
Het |
| Nat10 |
C |
A |
2: 103,562,515 (GRCm39) |
W607L |
probably damaging |
Het |
| Nop56 |
A |
G |
2: 130,120,193 (GRCm39) |
T183A |
probably benign |
Het |
| Or10h1 |
A |
G |
17: 33,418,367 (GRCm39) |
H115R |
probably benign |
Het |
| Or2d4 |
A |
T |
7: 106,544,152 (GRCm39) |
S19T |
probably benign |
Het |
| Or4c10 |
A |
G |
2: 89,761,008 (GRCm39) |
Y285C |
possibly damaging |
Het |
| Or4d1 |
T |
A |
11: 87,805,136 (GRCm39) |
M199L |
probably benign |
Het |
| Or52j3 |
A |
G |
7: 102,836,309 (GRCm39) |
Y167C |
probably benign |
Het |
| Or5ae2 |
T |
A |
7: 84,506,112 (GRCm39) |
Y178* |
probably null |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,002 (GRCm39) |
F383L |
probably damaging |
Het |
| Pde4dip |
C |
A |
3: 97,602,321 (GRCm39) |
D2252Y |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plscr2 |
T |
G |
9: 92,169,823 (GRCm39) |
L91R |
probably benign |
Het |
| Plxnc1 |
T |
A |
10: 94,630,306 (GRCm39) |
Y1531F |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,521,043 (GRCm39) |
F710I |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,506,552 (GRCm39) |
E158G |
probably damaging |
Het |
| Rasip1 |
T |
A |
7: 45,277,247 (GRCm39) |
H18Q |
possibly damaging |
Het |
| Rcsd1 |
T |
A |
1: 165,483,493 (GRCm39) |
N166I |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,344,417 (GRCm39) |
I517K |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,839,255 (GRCm39) |
H506L |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin14 |
T |
C |
5: 129,770,090 (GRCm39) |
D202G |
possibly damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,138,948 (GRCm39) |
I505F |
possibly damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,171,107 (GRCm39) |
Y927F |
probably benign |
Het |
| Spats2 |
T |
G |
15: 99,078,603 (GRCm39) |
M191R |
possibly damaging |
Het |
| Sycp1 |
C |
T |
3: 102,829,778 (GRCm39) |
|
probably null |
Het |
| T2 |
A |
G |
17: 8,609,848 (GRCm39) |
E99G |
possibly damaging |
Het |
| Taf3 |
G |
A |
2: 10,053,375 (GRCm39) |
|
probably benign |
Het |
| Tnfsf10 |
A |
T |
3: 27,389,728 (GRCm39) |
N263I |
probably damaging |
Het |
| Treml2 |
A |
T |
17: 48,615,203 (GRCm39) |
R229S |
probably benign |
Het |
| Trmt13 |
T |
C |
3: 116,383,404 (GRCm39) |
K125E |
probably damaging |
Het |
| Ttc9 |
G |
T |
12: 81,678,375 (GRCm39) |
C66F |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
| Zfp353-ps |
T |
C |
8: 42,535,251 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp932 |
A |
T |
5: 110,157,760 (GRCm39) |
H486L |
probably damaging |
Het |
|
| Other mutations in Siglec1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Siglec1
|
APN |
2 |
130,921,245 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01092:Siglec1
|
APN |
2 |
130,921,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01115:Siglec1
|
APN |
2 |
130,916,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01324:Siglec1
|
APN |
2 |
130,927,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Siglec1
|
APN |
2 |
130,916,925 (GRCm39) |
nonsense |
probably null |
|
|
IGL01330:Siglec1
|
APN |
2 |
130,925,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01558:Siglec1
|
APN |
2 |
130,920,419 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01632:Siglec1
|
APN |
2 |
130,925,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01768:Siglec1
|
APN |
2 |
130,916,314 (GRCm39) |
missense |
probably benign |
|
|
IGL02399:Siglec1
|
APN |
2 |
130,913,098 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02558:Siglec1
|
APN |
2 |
130,916,915 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02794:Siglec1
|
APN |
2 |
130,917,889 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02839:Siglec1
|
APN |
2 |
130,926,852 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
aggressor
|
UTSW |
2 |
130,925,861 (GRCm39) |
nonsense |
probably null |
|
|
boris
|
UTSW |
2 |
130,921,297 (GRCm39) |
nonsense |
probably null |
|
|
espia
|
UTSW |
2 |
130,914,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
hoodlum
|
UTSW |
2 |
130,914,667 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
microfische
|
UTSW |
2 |
130,928,015 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
K3955:Siglec1
|
UTSW |
2 |
130,923,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0038:Siglec1
|
UTSW |
2 |
130,923,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4576001:Siglec1
|
UTSW |
2 |
130,920,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Siglec1
|
UTSW |
2 |
130,914,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Siglec1
|
UTSW |
2 |
130,916,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0048:Siglec1
|
UTSW |
2 |
130,915,317 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0048:Siglec1
|
UTSW |
2 |
130,915,317 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0243:Siglec1
|
UTSW |
2 |
130,927,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Siglec1
|
UTSW |
2 |
130,925,861 (GRCm39) |
nonsense |
probably null |
|
|
R0379:Siglec1
|
UTSW |
2 |
130,916,445 (GRCm39) |
splice site |
probably benign |
|
|
R0464:Siglec1
|
UTSW |
2 |
130,921,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Siglec1
|
UTSW |
2 |
130,916,445 (GRCm39) |
splice site |
probably benign |
|
|
R0560:Siglec1
|
UTSW |
2 |
130,912,266 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0620:Siglec1
|
UTSW |
2 |
130,916,188 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0621:Siglec1
|
UTSW |
2 |
130,916,188 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0853:Siglec1
|
UTSW |
2 |
130,926,942 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1079:Siglec1
|
UTSW |
2 |
130,921,297 (GRCm39) |
nonsense |
probably null |
|
|
R1169:Siglec1
|
UTSW |
2 |
130,916,747 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1205:Siglec1
|
UTSW |
2 |
130,922,384 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1293:Siglec1
|
UTSW |
2 |
130,915,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Siglec1
|
UTSW |
2 |
130,912,307 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1470:Siglec1
|
UTSW |
2 |
130,912,307 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1533:Siglec1
|
UTSW |
2 |
130,918,078 (GRCm39) |
missense |
probably benign |
|
|
R1717:Siglec1
|
UTSW |
2 |
130,925,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Siglec1
|
UTSW |
2 |
130,915,876 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1744:Siglec1
|
UTSW |
2 |
130,923,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Siglec1
|
UTSW |
2 |
130,923,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1941:Siglec1
|
UTSW |
2 |
130,920,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2011:Siglec1
|
UTSW |
2 |
130,925,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Siglec1
|
UTSW |
2 |
130,925,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Siglec1
|
UTSW |
2 |
130,922,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Siglec1
|
UTSW |
2 |
130,913,257 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2403:Siglec1
|
UTSW |
2 |
130,916,395 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2449:Siglec1
|
UTSW |
2 |
130,920,645 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2885:Siglec1
|
UTSW |
2 |
130,914,667 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4213:Siglec1
|
UTSW |
2 |
130,916,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Siglec1
|
UTSW |
2 |
130,927,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4715:Siglec1
|
UTSW |
2 |
130,916,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Siglec1
|
UTSW |
2 |
130,917,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Siglec1
|
UTSW |
2 |
130,911,789 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4993:Siglec1
|
UTSW |
2 |
130,915,281 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5004:Siglec1
|
UTSW |
2 |
130,915,331 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5004:Siglec1
|
UTSW |
2 |
130,911,789 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5105:Siglec1
|
UTSW |
2 |
130,922,320 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5137:Siglec1
|
UTSW |
2 |
130,923,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Siglec1
|
UTSW |
2 |
130,927,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5311:Siglec1
|
UTSW |
2 |
130,921,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5600:Siglec1
|
UTSW |
2 |
130,927,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5682:Siglec1
|
UTSW |
2 |
130,925,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5732:Siglec1
|
UTSW |
2 |
130,916,188 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5870:Siglec1
|
UTSW |
2 |
130,914,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5898:Siglec1
|
UTSW |
2 |
130,915,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Siglec1
|
UTSW |
2 |
130,919,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Siglec1
|
UTSW |
2 |
130,923,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6920:Siglec1
|
UTSW |
2 |
130,919,997 (GRCm39) |
nonsense |
probably null |
|
|
R7064:Siglec1
|
UTSW |
2 |
130,925,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7270:Siglec1
|
UTSW |
2 |
130,923,471 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7355:Siglec1
|
UTSW |
2 |
130,922,371 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7400:Siglec1
|
UTSW |
2 |
130,928,015 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7470:Siglec1
|
UTSW |
2 |
130,917,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7568:Siglec1
|
UTSW |
2 |
130,914,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Siglec1
|
UTSW |
2 |
130,923,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Siglec1
|
UTSW |
2 |
130,923,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:Siglec1
|
UTSW |
2 |
130,913,083 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8191:Siglec1
|
UTSW |
2 |
130,927,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8274:Siglec1
|
UTSW |
2 |
130,925,830 (GRCm39) |
missense |
probably benign |
|
|
R8345:Siglec1
|
UTSW |
2 |
130,920,498 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8670:Siglec1
|
UTSW |
2 |
130,923,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8814:Siglec1
|
UTSW |
2 |
130,914,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9102:Siglec1
|
UTSW |
2 |
130,915,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9311:Siglec1
|
UTSW |
2 |
130,916,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Siglec1
|
UTSW |
2 |
130,925,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9462:Siglec1
|
UTSW |
2 |
130,916,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Siglec1
|
UTSW |
2 |
130,915,246 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9683:Siglec1
|
UTSW |
2 |
130,921,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9799:Siglec1
|
UTSW |
2 |
130,915,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0024:Siglec1
|
UTSW |
2 |
130,922,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Siglec1
|
UTSW |
2 |
130,922,444 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1176:Siglec1
|
UTSW |
2 |
130,920,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAGAGCCATGCCTTCTTAAG -3'
(R):5'- TCATGGTCGTGATTCAGTGC -3'
Sequencing Primer
(F):5'- CCATGCCTTCTTAAGCAGATTAGGG -3'
(R):5'- TGATTCAGTGCACCGTGGAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation