Incidental Mutation 'R9590:Cd33'
| ID |
722963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd33
|
| Ensembl Gene |
ENSMUSG00000004609 |
| Gene Name |
CD33 molecule |
| Synonyms |
Siglec-3, gp67 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43176823-43186679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43179637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 264
(I264F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004728]
[ENSMUST00000039861]
[ENSMUST00000205503]
|
| AlphaFold |
Q63994 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004728
AA Change: I264F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: I264F
| 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
AA Change: I264F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
AA Change: I264F
| 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
AA Change: I264F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206371
AA Change: M150L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,876,506 (GRCm39) |
T1087A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,208,923 (GRCm39) |
T347A |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,865,693 (GRCm39) |
L69* |
probably null |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| C130073F10Rik |
G |
A |
4: 101,747,618 (GRCm39) |
T137I |
probably benign |
Het |
| C9orf72 |
C |
T |
4: 35,218,557 (GRCm39) |
G101R |
|
Het |
| Cacna1a |
C |
T |
8: 85,328,610 (GRCm39) |
Q1683* |
probably null |
Het |
| Calml4 |
A |
G |
9: 62,782,810 (GRCm39) |
Y139C |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,642,461 (GRCm39) |
H105L |
probably benign |
Het |
| Cnr1 |
G |
T |
4: 33,944,849 (GRCm39) |
M412I |
probably benign |
Het |
| Cyp2j11 |
T |
A |
4: 96,195,614 (GRCm39) |
M361L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,290,323 (GRCm39) |
V216D |
probably benign |
Het |
| Eif1 |
C |
T |
11: 100,210,867 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
G |
A |
11: 120,269,545 (GRCm39) |
|
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,306,785 (GRCm39) |
Q59L |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 54,747,973 (GRCm39) |
V285F |
probably benign |
Het |
| Gm32742 |
A |
G |
9: 51,050,461 (GRCm39) |
F1510S |
possibly damaging |
Het |
| Klhl33 |
T |
G |
14: 51,130,042 (GRCm39) |
D224A |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,784,060 (GRCm39) |
F607S |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,592,977 (GRCm39) |
N686S |
possibly damaging |
Het |
| Mlip |
A |
G |
9: 77,045,834 (GRCm39) |
M882T |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,790,834 (GRCm39) |
M74K |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,853,888 (GRCm38) |
S358Y |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,614,553 (GRCm39) |
L82P |
probably benign |
Het |
| Or5b12b |
T |
C |
19: 12,861,980 (GRCm39) |
V245A |
probably benign |
Het |
| Or8g29-ps1 |
A |
T |
9: 39,201,076 (GRCm39) |
C37S |
unknown |
Het |
| Padi1 |
T |
C |
4: 140,544,552 (GRCm39) |
D547G |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,340,400 (GRCm39) |
S332P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,160,757 (GRCm39) |
I909V |
probably benign |
Het |
| Ppil6 |
T |
C |
10: 41,366,478 (GRCm39) |
M1T |
probably null |
Het |
| Proser2 |
A |
G |
2: 6,105,794 (GRCm39) |
S257P |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,328 (GRCm39) |
F1797L |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
| Tab1 |
A |
T |
15: 80,040,097 (GRCm39) |
N306Y |
probably damaging |
Het |
| Tob2 |
A |
C |
15: 81,735,068 (GRCm39) |
F300L |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATTGTTGAAGTGAATCGGTC -3'
(R):5'- GGGAGTTGACTCATCACACC -3'
Sequencing Primer
(F):5'- TGAATCGGTCACTACATGCAC -3'
(R):5'- GGGAGTTGACTCATCACACCTATGTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation