Incidental Mutation 'IGL02080:Cd33'
ID186100
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 #IGL02080
Quality Score
Status
Chromosome7
Chromosomal Location43524216-43544428 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 43528850 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004728] [ENSMUST00000039861] [ENSMUST00000205503]
Predicted Effect unknown
Transcript: ENSMUST00000004728
AA Change: L367P
SMART Domains Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: L367P

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 unknown
Transcript: ENSMUST00000206371
AA Change: L203P
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnajc1 A G 2: 18,316,348 probably benign Het
Dpysl2 A T 14: 66,829,945 D172E probably benign Het
Fbxw28 A G 9: 109,339,573 L17P probably damaging Het
Gprin3 C A 6: 59,354,191 R377M possibly damaging Het
Hectd4 T A 5: 121,366,606 probably benign Het
Kif26a G T 12: 112,157,566 A202S probably damaging Het
Lrig2 A T 3: 104,464,124 D754E probably damaging Het
Lrit2 A G 14: 37,069,074 K237E probably damaging Het
Med13 A G 11: 86,283,812 V1729A probably damaging Het
Mon2 A G 10: 123,052,190 S100P probably damaging Het
Mrnip A G 11: 50,197,675 D166G probably benign Het
Olfr1496 T C 19: 13,781,482 F288S probably damaging Het
Olfr728 A T 14: 50,140,122 N172K probably damaging Het
Pkd1l1 T A 11: 8,961,345 N311Y unknown Het
Ppara A G 15: 85,789,019 D137G possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scube2 A G 7: 109,852,478 F156S probably damaging Het
Setd2 T G 9: 110,547,450 probably null Het
Slc24a2 A G 4: 87,227,146 C224R probably damaging Het
Snrnp48 A G 13: 38,216,490 D191G probably damaging Het
Spo11 A G 2: 172,989,395 Y266C probably damaging Het
Tmem144 G A 3: 79,822,759 probably benign Het
Tsacc A T 3: 88,295,389 probably null Het
Unc5d T C 8: 28,891,288 probably null Het
Unc79 A G 12: 103,001,975 I153M probably damaging Het
Vgll4 A G 6: 114,862,798 C178R probably damaging Het
Vmn2r90 T A 17: 17,712,858 S227T probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Cd33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Cd33 APN 7 43529558 intron probably benign
IGL01025:Cd33 APN 7 43532905 missense probably damaging 1.00
IGL01593:Cd33 APN 7 43530281 missense possibly damaging 0.91
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 On2014-05-07