Incidental Mutation 'IGL02519:Cd33'
ID |
296904 |
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 # |
IGL02519
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
43176823-43186679 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
C to T
at 43178153 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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
T |
2: 26,868,687 (GRCm39) |
I224F |
probably damaging |
Het |
Adamts17 |
A |
G |
7: 66,774,721 (GRCm39) |
T947A |
possibly damaging |
Het |
Ankfn1 |
T |
C |
11: 89,296,504 (GRCm39) |
E75G |
probably benign |
Het |
Arfgef1 |
G |
T |
1: 10,279,893 (GRCm39) |
H225N |
probably benign |
Het |
Arsi |
A |
G |
18: 61,050,139 (GRCm39) |
S341G |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,389,665 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,949,464 (GRCm39) |
E370G |
probably damaging |
Het |
Cacna1i |
C |
T |
15: 80,246,075 (GRCm39) |
R490* |
probably null |
Het |
Clmn |
T |
C |
12: 104,758,112 (GRCm39) |
I135V |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,919,457 (GRCm39) |
N795K |
possibly damaging |
Het |
Dhps |
A |
G |
8: 85,799,928 (GRCm39) |
D126G |
probably damaging |
Het |
Dlg2 |
G |
T |
7: 91,589,323 (GRCm39) |
V196L |
possibly damaging |
Het |
Dsg1c |
T |
A |
18: 20,416,790 (GRCm39) |
I897N |
probably damaging |
Het |
Dzip3 |
A |
G |
16: 48,748,759 (GRCm39) |
L1059S |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
Fgf17 |
A |
G |
14: 70,875,968 (GRCm39) |
I88T |
probably damaging |
Het |
G3bp2 |
A |
G |
5: 92,214,383 (GRCm39) |
V137A |
possibly damaging |
Het |
Gnal |
G |
A |
18: 67,221,836 (GRCm39) |
E80K |
unknown |
Het |
Hectd1 |
T |
G |
12: 51,815,894 (GRCm39) |
S1393R |
probably damaging |
Het |
Igsf6 |
T |
C |
7: 120,667,496 (GRCm39) |
I173M |
possibly damaging |
Het |
Il2ra |
A |
C |
2: 11,687,901 (GRCm39) |
E227A |
possibly damaging |
Het |
Iqcf6 |
C |
T |
9: 106,504,479 (GRCm39) |
R48C |
probably damaging |
Het |
Kdm3a |
G |
T |
6: 71,588,570 (GRCm39) |
Q480K |
probably benign |
Het |
Larp4b |
C |
A |
13: 9,208,616 (GRCm39) |
A423E |
probably benign |
Het |
Magea6 |
T |
C |
X: 153,707,741 (GRCm39) |
D105G |
probably benign |
Het |
Nop53 |
C |
A |
7: 15,673,197 (GRCm39) |
|
probably benign |
Het |
Or14a260 |
A |
T |
7: 85,984,789 (GRCm39) |
F272I |
probably benign |
Het |
Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
Pgghg |
A |
G |
7: 140,524,894 (GRCm39) |
T352A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,382,184 (GRCm39) |
S1464P |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,461,762 (GRCm39) |
T3609N |
probably damaging |
Het |
Sulf1 |
T |
A |
1: 12,908,587 (GRCm39) |
Y533* |
probably null |
Het |
Thsd7b |
A |
G |
1: 129,540,932 (GRCm39) |
S346G |
probably benign |
Het |
Tmem161b |
T |
A |
13: 84,442,863 (GRCm39) |
L261Q |
probably damaging |
Het |
Tmem63b |
T |
A |
17: 45,976,134 (GRCm39) |
T493S |
possibly damaging |
Het |
Tmprss11d |
A |
T |
5: 86,454,164 (GRCm39) |
C214S |
probably damaging |
Het |
Trim16 |
A |
T |
11: 62,724,905 (GRCm39) |
E144V |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,961,359 (GRCm39) |
Y356C |
probably damaging |
Het |
Urgcp |
A |
T |
11: 5,667,745 (GRCm39) |
F198I |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,767,320 (GRCm39) |
I726V |
possibly damaging |
Het |
Zzz3 |
A |
T |
3: 152,133,027 (GRCm39) |
E28D |
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 |
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 |
|
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 |
2015-04-16 |