Incidental Mutation 'IGL01762:Cd34'
ID153267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd34
Ensembl Gene ENSMUSG00000016494
Gene NameCD34 antigen
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL01762
Quality Score
Status
Chromosome1
Chromosomal Location194938819-194961279 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 194939033 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 23 (M23K)
Ref Sequence ENSEMBL: ENSMUSP00000106439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016638] [ENSMUST00000110815]
Predicted Effect probably benign
Transcript: ENSMUST00000016638
AA Change: M23K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: M23K

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 156 167 N/A INTRINSIC
Pfam:CD34_antigen 187 382 2.3e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110815
AA Change: M23K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: M23K

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 156 167 N/A INTRINSIC
Pfam:CD34_antigen 187 325 3.5e-51 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000194036
AA Change: M13K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195092
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a null allele show decreased splenocyte number and hematopoietic defects. Homozygotes for another null allele show reduced eosinophil accumulation after allergen exposure, impaired TPA-induced hair follicle stem cell activation and reduced incidence of chemically-induced skin tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,174,851 L47* probably null Het
Abca13 A T 11: 9,315,423 T3033S probably benign Het
Atp1a2 C A 1: 172,284,913 V503L possibly damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cacna1e T A 1: 154,471,373 D770V possibly damaging Het
Camkk1 A G 11: 73,030,801 probably null Het
Cndp1 T A 18: 84,622,286 I265F probably damaging Het
Cux2 A G 5: 121,873,145 I574T probably damaging Het
Fam129a T C 1: 151,636,491 V48A probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Galk1 A G 11: 116,010,008 Y236H probably damaging Het
Gbp11 T C 5: 105,327,607 I292V probably benign Het
Gprc5c A G 11: 114,864,024 I176V probably benign Het
Myh6 T C 14: 54,962,081 K258E probably benign Het
Nlrp9c T A 7: 26,385,425 D243V probably damaging Het
Nobox T G 6: 43,303,993 K516Q probably damaging Het
Nudcd3 A G 11: 6,150,560 S195P probably damaging Het
Pde10a T C 17: 8,942,918 I477T possibly damaging Het
Pgbd5 C T 8: 124,370,610 A394T probably damaging Het
Piezo1 G A 8: 122,487,929 R1553* probably null Het
Prkd1 T C 12: 50,387,230 I577V probably benign Het
Prss34 T C 17: 25,299,812 I256T probably benign Het
Ptprg A G 14: 12,037,386 T189A probably benign Het
Ptprr C T 10: 116,236,733 T200I probably damaging Het
Samd8 C T 14: 21,780,100 P198L probably damaging Het
Sema3c T C 5: 17,694,851 L447P possibly damaging Het
Slc22a23 A T 13: 34,204,001 F371I possibly damaging Het
Slc2a2 A G 3: 28,717,472 R184G probably damaging Het
Slitrk6 T A 14: 110,751,624 D217V probably damaging Het
Tlr2 A G 3: 83,836,994 V594A probably benign Het
Vmn2r109 A G 17: 20,554,392 F234L probably benign Het
Vmn2r12 A C 5: 109,086,564 L594R probably damaging Het
Vmn2r124 A G 17: 18,063,172 Q376R possibly damaging Het
Vmn2r7 T C 3: 64,691,435 D567G probably benign Het
Other mutations in Cd34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Cd34 APN 1 194960114 missense probably damaging 1.00
IGL00979:Cd34 APN 1 194949508 missense possibly damaging 0.92
IGL01861:Cd34 APN 1 194958580 unclassified probably benign
IGL03227:Cd34 APN 1 194958463 missense probably damaging 1.00
R0628:Cd34 UTSW 1 194959217 missense probably damaging 1.00
R2057:Cd34 UTSW 1 194959142 missense probably damaging 1.00
R2249:Cd34 UTSW 1 194947952 missense possibly damaging 0.95
R2435:Cd34 UTSW 1 194939026 missense probably damaging 0.96
R4795:Cd34 UTSW 1 194951011 missense probably damaging 0.98
R5076:Cd34 UTSW 1 194948030 intron probably benign
R5400:Cd34 UTSW 1 194938958 unclassified probably benign
R5414:Cd34 UTSW 1 194947911 missense probably benign 0.05
R5641:Cd34 UTSW 1 194947968 missense probably benign 0.25
R6110:Cd34 UTSW 1 194949569 splice site probably null
R6148:Cd34 UTSW 1 194948008 critical splice donor site probably null
R6234:Cd34 UTSW 1 194948000 missense probably damaging 0.98
R7715:Cd34 UTSW 1 194949316 missense probably damaging 0.98
R8029:Cd34 UTSW 1 194958552 missense not run
Posted On2014-02-04