Incidental Mutation 'R5387:Cd33'
ID425332
Institutional Source Beutler Lab
Gene Symbol Cd33
Ensembl Gene ENSMUSG00000004609
Gene NameCD33 antigen
SynonymsSiglec-3, gp67
MMRRC Submission 042959-MU
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 #R5387 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location43524216-43544428 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 43532053 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 114 (Q114*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004728] [ENSMUST00000039861] [ENSMUST00000205503]
Predicted Effect probably null
Transcript: ENSMUST00000004728
AA Change: Q228*
SMART Domains Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: Q228*

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 null
Transcript: ENSMUST00000039861
AA Change: Q228*
SMART Domains Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
AA Change: Q228*

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 null
Transcript: ENSMUST00000205503
AA Change: Q228*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205687
Predicted Effect probably null
Transcript: ENSMUST00000206371
AA Change: Q114*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206977
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,974 D32E probably benign Het
2210408I21Rik T A 13: 77,259,973 S140T probably benign Het
Ahnak T C 19: 9,003,691 S780P probably damaging Het
Ankhd1 C A 18: 36,634,644 H1205N probably damaging Het
Ano1 T C 7: 144,648,619 K139R probably benign Het
Anp32b T G 4: 46,468,573 C114W probably damaging Het
Ascl1 C T 10: 87,492,689 A134T probably damaging Het
Atl2 C T 17: 79,852,800 E453K probably benign Het
Aup1 C T 6: 83,055,024 A84V probably damaging Het
Btbd7 A T 12: 102,837,785 M332K probably damaging Het
Cacna1d A G 14: 30,100,751 V1107A probably damaging Het
Col4a4 C T 1: 82,493,591 G681E unknown Het
Defb22 C A 2: 152,485,906 A120S unknown Het
Dnah7b A G 1: 46,188,659 I1347M probably damaging Het
Efcab5 A G 11: 77,134,842 I549T possibly damaging Het
Esp15 T A 17: 39,644,577 probably null Het
Fbxo7 A G 10: 86,024,654 T42A probably benign Het
Filip1 A G 9: 79,818,274 I1021T probably benign Het
Gad1 C A 2: 70,563,851 S7* probably null Het
Gm281 C A 14: 13,914,438 M1I probably null Het
H2-Q7 C T 17: 35,439,542 T52M probably damaging Het
H2-T3 C T 17: 36,186,702 G28R probably benign Het
Hist1h2ad T A 13: 23,574,667 probably null Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Ift81 A G 5: 122,555,535 Y604H probably damaging Het
Igsf11 A G 16: 39,022,423 Y154C probably damaging Het
Kif26b G T 1: 178,914,876 A846S probably benign Het
Lnx2 G A 5: 147,028,154 P420S probably benign Het
Lrit2 A G 14: 37,072,259 T427A probably damaging Het
Lrrc43 G T 5: 123,499,671 probably null Het
Mug1 T C 6: 121,884,394 Y1325H probably damaging Het
Naglu A T 11: 101,076,724 Y500F probably damaging Het
Npy4r A G 14: 34,146,983 M116T probably benign Het
Nrd1 A G 4: 109,039,762 Y526C probably damaging Het
Nrp2 T C 1: 62,762,813 S472P probably benign Het
Olfr102 T A 17: 37,314,292 T31S probably benign Het
Olfr361 T C 2: 37,085,719 T10A possibly damaging Het
Otogl T A 10: 107,780,933 T1828S probably benign Het
Pank2 C T 2: 131,274,262 T200I probably benign Het
Pbrm1 A G 14: 31,082,610 Y946C probably damaging Het
Pde12 A T 14: 26,666,453 S437T probably benign Het
Pikfyve A G 1: 65,265,268 K1710E possibly damaging Het
Plcd3 A G 11: 103,078,455 S229P probably damaging Het
Polr3a T C 14: 24,454,941 I1084V possibly damaging Het
Prkaa2 C A 4: 105,040,177 D280Y probably damaging Het
Ptprg T A 14: 12,153,873 S531R probably damaging Het
R3hdm2 T C 10: 127,485,434 S620P probably damaging Het
Rab33b A G 3: 51,493,455 T117A probably damaging Het
Rasal2 T C 1: 157,157,765 D804G possibly damaging Het
Rbp3 A G 14: 33,956,413 T773A possibly damaging Het
Rrnad1 A T 3: 87,930,011 probably benign Het
Rspry1 A G 8: 94,638,286 T185A possibly damaging Het
Sec61a2 G T 2: 5,882,545 probably benign Het
Setx C T 2: 29,147,594 R1364C probably benign Het
Shtn1 G T 19: 59,038,369 L97M probably damaging Het
Slc35f1 T C 10: 53,108,164 L340P probably damaging Het
Slc45a1 T A 4: 150,643,909 probably benign Het
Slmap T C 14: 26,459,933 E386G probably benign Het
Smc2 C T 4: 52,475,096 A924V probably benign Het
Sp110 C G 1: 85,589,118 E219D probably damaging Het
Tecta G A 9: 42,375,063 L766F probably damaging Het
Tle3 C T 9: 61,407,489 probably null Het
Top3a A G 11: 60,762,490 F53L probably damaging Het
Trem1 T C 17: 48,241,513 I26T possibly damaging Het
Ttc7b G T 12: 100,446,963 Q199K possibly damaging Het
Ubap2l T C 3: 90,006,596 Y975C probably benign Het
Ubxn11 C A 4: 134,123,426 D196E probably damaging Het
Unc80 A G 1: 66,530,021 H945R possibly damaging Het
Usp15 A G 10: 123,131,286 I405T probably damaging Het
Uty C T Y: 1,189,339 E138K probably damaging Het
Wapl A G 14: 34,677,295 E107G probably benign Het
Wbp1l T C 19: 46,644,457 probably null Het
Zfp184 T G 13: 21,949,640 probably benign Het
Zfp36 A C 7: 28,377,868 L205R possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CAAGGCAAGACAGGAGTTCC -3'
(R):5'- CCTGACATTATAATCCCGGGGAC -3'

Sequencing Primer
(F):5'- GGCAAGACAGGAGTTCCCATAAC -3'
(R):5'- CTGGAGGCTGGCTATCCTAG -3'
Posted On2016-08-04