Incidental Mutation 'IGL00948:Cd33'
ID27856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd33
Ensembl Gene ENSMUSG00000004609
Gene NameCD33 antigen
SynonymsSiglec-3, gp67
Accession Numbers

Genbank: NM_001111058.1, NM_021293.3; Ensembl: ENSMUST00000004728, ENSMUST00000039861

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00948
Quality Score
Status
Chromosome7
Chromosomal Location43524216-43544428 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) G to A at 43529558 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000004728] [ENSMUST00000039861] [ENSMUST00000205503]
Predicted Effect probably benign
Transcript: ENSMUST00000004728
SMART Domains Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccl2 A T 11: 82,035,732 Q24L possibly damaging Het
Cmya5 T C 13: 93,091,036 I2515V probably benign Het
Cntnap5b A G 1: 100,141,357 T101A probably benign Het
Cyp4a12a T A 4: 115,301,962 M143K probably damaging Het
Ephb4 C A 5: 137,366,659 S663R probably damaging Het
Gm4847 T C 1: 166,630,338 D482G probably benign Het
Gskip C A 12: 105,698,844 N47K probably damaging Het
Kmt2c T C 5: 25,377,161 Y473C probably benign Het
Lrrc7 T A 3: 158,161,557 N849I probably damaging Het
Magel2 T A 7: 62,379,322 V658E unknown Het
Nmral1 C T 16: 4,716,406 G57E probably damaging Het
Olfr801 A T 10: 129,669,887 L211I probably damaging Het
Olfr921 C T 9: 38,775,812 Q186* probably null Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Plrg1 T C 3: 83,068,119 V260A probably damaging Het
Prex2 A G 1: 11,170,614 H982R probably damaging Het
Rbm26 T A 14: 105,150,343 T448S probably damaging Het
Ryr1 C T 7: 29,020,195 M4262I possibly damaging Het
Slc41a3 A T 6: 90,645,714 D441V probably damaging Het
Slc7a2 A G 8: 40,912,524 E448G probably benign Het
Smtnl2 C A 11: 72,411,241 probably null Het
Tox3 G A 8: 90,270,434 P66L probably damaging Het
Vmn1r19 T C 6: 57,405,262 F267L probably benign Het
Vmn2r12 A G 5: 109,097,675 S64P possibly damaging Het
Zfp764 T C 7: 127,405,204 S252G possibly damaging Het
Other mutations in Cd33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Cd33 APN 7 43532905 missense probably damaging 1.00
IGL01593:Cd33 APN 7 43530281 missense possibly damaging 0.91
IGL02080:Cd33 APN 7 43528850 utr 3 prime probably benign
IGL02519:Cd33 APN 7 43528729 utr 3 prime probably benign
IGL02626:Cd33 APN 7 43530312 splice site probably benign
1mM(1):Cd33 UTSW 7 43528793 utr 3 prime probably benign
R0751:Cd33 UTSW 7 43532121 missense probably damaging 1.00
R1513:Cd33 UTSW 7 43532194 missense probably damaging 1.00
R1542:Cd33 UTSW 7 43532106 missense probably damaging 1.00
R1752:Cd33 UTSW 7 43532298 missense probably benign 0.24
R1928:Cd33 UTSW 7 43529879 missense probably benign 0.41
R2045:Cd33 UTSW 7 43529892 missense probably benign 0.00
R2127:Cd33 UTSW 7 43530275 missense possibly damaging 0.72
R3433:Cd33 UTSW 7 43529907 missense probably benign 0.00
R4760:Cd33 UTSW 7 43529495 missense probably benign
R4810:Cd33 UTSW 7 43532710 missense probably damaging 0.99
R5387:Cd33 UTSW 7 43532053 nonsense probably null
R5611:Cd33 UTSW 7 43532118 missense probably damaging 0.97
R5796:Cd33 UTSW 7 43533056 critical splice donor site probably null
R8021:Cd33 UTSW 7 43528838 missense unknown
R8193:Cd33 UTSW 7 43532272 missense possibly damaging 0.96
Posted On2013-04-17