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) question?
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

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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