Incidental Mutation 'IGL00948:Cd33'
| ID |
27856 |
| 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 # |
IGL00948
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43176823-43186679 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 43178982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004728]
[ENSMUST00000039861]
[ENSMUST00000205503]
|
| AlphaFold |
Q63994 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004728
|
| SMART Domains |
Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
| 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 |
probably benign
Transcript: ENSMUST00000039861
|
| SMART Domains |
Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
| 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 |
probably benign
Transcript: ENSMUST00000205503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205687
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206371
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccl2 |
A |
T |
11: 81,926,558 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,227,544 (GRCm39) |
I2515V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,069,082 (GRCm39) |
T101A |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,159,159 (GRCm39) |
M143K |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,364,921 (GRCm39) |
S663R |
probably damaging |
Het |
| Gm4847 |
T |
C |
1: 166,457,907 (GRCm39) |
D482G |
probably benign |
Het |
| Gskip |
C |
A |
12: 105,665,103 (GRCm39) |
N47K |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,582,159 (GRCm39) |
Y473C |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,867,194 (GRCm39) |
N849I |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,029,070 (GRCm39) |
V658E |
unknown |
Het |
| Nmral1 |
C |
T |
16: 4,534,270 (GRCm39) |
G57E |
probably damaging |
Het |
| Or6c211 |
A |
T |
10: 129,505,756 (GRCm39) |
L211I |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,687,108 (GRCm39) |
Q186* |
probably null |
Het |
| Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
| Plrg1 |
T |
C |
3: 82,975,426 (GRCm39) |
V260A |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,240,838 (GRCm39) |
H982R |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,387,779 (GRCm39) |
T448S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,719,620 (GRCm39) |
M4262I |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,622,696 (GRCm39) |
D441V |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,561 (GRCm39) |
E448G |
probably benign |
Het |
| Smtnl2 |
C |
A |
11: 72,302,067 (GRCm39) |
|
probably null |
Het |
| Tox3 |
G |
A |
8: 90,997,062 (GRCm39) |
P66L |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,247 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,245,541 (GRCm39) |
S64P |
possibly damaging |
Het |
| Zfp764 |
T |
C |
7: 127,004,376 (GRCm39) |
S252G |
possibly damaging |
Het |
|
| Other mutations in Cd33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Cd33
|
APN |
7 |
43,182,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01593:Cd33
|
APN |
7 |
43,179,705 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
2013-04-17 |
Incidental Mutation