Incidental Mutation 'IGL01593:Cd33'
| ID |
91651 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd33
|
| Ensembl Gene |
ENSMUSG00000004609 |
| Gene Name |
CD33 molecule |
| Synonyms |
Siglec-3, gp67 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43176823-43186679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43179705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 241
(L241P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004728]
[ENSMUST00000039861]
[ENSMUST00000205503]
|
| AlphaFold |
Q63994 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004728
AA Change: L241P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: L241P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG
|
26 |
139 |
2.58e-6 |
SMART |
|
IG_like
|
148 |
232 |
2.66e1 |
SMART |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039861
AA Change: L241P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
AA Change: L241P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG
|
26 |
139 |
2.58e-6 |
SMART |
|
IG_like
|
148 |
232 |
2.66e1 |
SMART |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205503
AA Change: L241P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205687
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206371
AA Change: L127P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206977
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene show slight reductions in mean erythrocyte count and hematocrit and increased concentration of blood aspartate aminotransaminase. There is also a hyporesponsiveness to induced peritonitis and a weaker IL-6 response to LPS-induced systemic inflammation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2)
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
| Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
| Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
| Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
| Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
| Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
| Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
| Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
| Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
| Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
| Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
| Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
probably damaging |
Het |
|
| Other mutations in Cd33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Cd33
|
APN |
7 |
43,178,982 (GRCm39) |
intron |
probably benign |
|
|
IGL01025:Cd33
|
APN |
7 |
43,182,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02080:Cd33
|
APN |
7 |
43,178,274 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02519:Cd33
|
APN |
7 |
43,178,153 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02626:Cd33
|
APN |
7 |
43,179,736 (GRCm39) |
splice site |
probably benign |
|
|
1mM(1):Cd33
|
UTSW |
7 |
43,178,217 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0751:Cd33
|
UTSW |
7 |
43,181,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Cd33
|
UTSW |
7 |
43,181,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Cd33
|
UTSW |
7 |
43,181,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Cd33
|
UTSW |
7 |
43,181,722 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1928:Cd33
|
UTSW |
7 |
43,179,303 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2045:Cd33
|
UTSW |
7 |
43,179,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2127:Cd33
|
UTSW |
7 |
43,179,699 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3433:Cd33
|
UTSW |
7 |
43,179,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4760:Cd33
|
UTSW |
7 |
43,178,919 (GRCm39) |
missense |
probably benign |
|
|
R4810:Cd33
|
UTSW |
7 |
43,182,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5387:Cd33
|
UTSW |
7 |
43,181,477 (GRCm39) |
nonsense |
probably null |
|
|
R5611:Cd33
|
UTSW |
7 |
43,181,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5796:Cd33
|
UTSW |
7 |
43,182,480 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8021:Cd33
|
UTSW |
7 |
43,178,262 (GRCm39) |
missense |
unknown |
|
|
R8193:Cd33
|
UTSW |
7 |
43,181,696 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8993:Cd33
|
UTSW |
7 |
43,182,871 (GRCm39) |
unclassified |
probably benign |
|
|
R9495:Cd33
|
UTSW |
7 |
43,182,150 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9514:Cd33
|
UTSW |
7 |
43,182,150 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9590:Cd33
|
UTSW |
7 |
43,179,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation