Incidental Mutation 'IGL00979:Cd34'
ID 26767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd34
Ensembl Gene ENSMUSG00000016494
Gene Name CD34 antigen
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL00979
Quality Score
Status
Chromosome 1
Chromosomal Location 194621239-194643587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 194631816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 151 (T151P)
Ref Sequence ENSEMBL: ENSMUSP00000106439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016638] [ENSMUST00000110815]
AlphaFold Q64314
Predicted Effect possibly damaging
Transcript: ENSMUST00000016638
AA Change: T151P

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: T151P

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 possibly damaging
Transcript: ENSMUST00000110815
AA Change: T151P

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: T151P

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 probably benign
Transcript: ENSMUST00000194036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194458
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,338 (GRCm39) K84M probably damaging Het
A4gnt T A 9: 99,502,489 (GRCm39) Y216* probably null Het
Abcb1b A G 5: 8,875,293 (GRCm39) probably benign Het
Ankrd50 G A 3: 38,506,563 (GRCm39) probably benign Het
Catsperb A G 12: 101,381,584 (GRCm39) T89A probably benign Het
Ccdc15 C T 9: 37,227,786 (GRCm39) S236N probably benign Het
Col28a1 A T 6: 8,014,810 (GRCm39) V865E probably damaging Het
Csf2rb T A 15: 78,232,304 (GRCm39) V537E probably damaging Het
Cux2 A G 5: 122,011,777 (GRCm39) F553L probably damaging Het
Dolk A T 2: 30,174,743 (GRCm39) L434Q probably damaging Het
Dsg2 C A 18: 20,715,824 (GRCm39) D255E probably damaging Het
Endov T C 11: 119,391,444 (GRCm39) V144A probably damaging Het
Grik2 T C 10: 49,232,034 (GRCm39) N499D probably damaging Het
Hephl1 G T 9: 14,978,341 (GRCm39) T855K probably benign Het
Hif1a A G 12: 73,988,784 (GRCm39) D557G probably damaging Het
Idh1 G A 1: 65,210,308 (GRCm39) T75I probably damaging Het
Ighv1-37 A G 12: 114,860,070 (GRCm39) S47P probably benign Het
Irx4 A G 13: 73,416,341 (GRCm39) probably benign Het
Itpr1 C T 6: 108,448,081 (GRCm39) A1871V probably damaging Het
Klkb1 A G 8: 45,747,105 (GRCm39) probably benign Het
Lrrc8e T C 8: 4,285,080 (GRCm39) L435P probably damaging Het
Megf11 T A 9: 64,416,009 (GRCm39) Y73N probably damaging Het
Nfe2 T C 15: 103,157,607 (GRCm39) D128G probably damaging Het
Or13a22 A G 7: 140,072,614 (GRCm39) E21G probably benign Het
Or4k51 T A 2: 111,584,771 (GRCm39) M59K probably damaging Het
Pak6 C A 2: 118,526,963 (GRCm39) L653I probably damaging Het
Pde4dip T A 3: 97,655,074 (GRCm39) probably benign Het
Pds5a A G 5: 65,789,066 (GRCm39) V831A probably benign Het
Prc1 G T 7: 79,957,444 (GRCm39) probably null Het
Ptprs C T 17: 56,765,243 (GRCm39) G14S probably damaging Het
Pygb A G 2: 150,661,833 (GRCm39) K520E probably benign Het
Rimbp2 A G 5: 128,883,505 (GRCm39) S92P probably benign Het
Samd4b A T 7: 28,113,638 (GRCm39) L109Q probably damaging Het
Saxo4 T C 19: 10,451,863 (GRCm39) *428W probably null Het
Scn8a A T 15: 100,853,287 (GRCm39) probably benign Het
Sdc3 A G 4: 130,545,991 (GRCm39) I23V unknown Het
Sec61a2 A G 2: 5,876,831 (GRCm39) Y350H possibly damaging Het
Slc4a3 A T 1: 75,530,891 (GRCm39) Q759L probably damaging Het
Speg C T 1: 75,387,378 (GRCm39) P1378L probably damaging Het
Spta1 T G 1: 174,035,956 (GRCm39) Y1087* probably null Het
Tenm4 A G 7: 96,378,598 (GRCm39) E401G probably damaging Het
Tom1 C A 8: 75,781,331 (GRCm39) probably benign Het
Ttc3 T A 16: 94,257,577 (GRCm39) V1273D probably damaging Het
Vmn2r106 G T 17: 20,497,837 (GRCm39) D467E possibly damaging Het
Washc4 A T 10: 83,386,747 (GRCm39) T124S probably benign Het
Zfp790 A G 7: 29,529,034 (GRCm39) E573G probably benign Het
Other mutations in Cd34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Cd34 APN 1 194,642,422 (GRCm39) missense probably damaging 1.00
IGL01762:Cd34 APN 1 194,621,341 (GRCm39) missense probably benign 0.07
IGL01861:Cd34 APN 1 194,640,888 (GRCm39) unclassified probably benign
IGL03227:Cd34 APN 1 194,640,771 (GRCm39) missense probably damaging 1.00
R0628:Cd34 UTSW 1 194,641,525 (GRCm39) missense probably damaging 1.00
R2057:Cd34 UTSW 1 194,641,450 (GRCm39) missense probably damaging 1.00
R2249:Cd34 UTSW 1 194,630,260 (GRCm39) missense possibly damaging 0.95
R2435:Cd34 UTSW 1 194,621,334 (GRCm39) missense probably damaging 0.96
R4795:Cd34 UTSW 1 194,633,319 (GRCm39) missense probably damaging 0.98
R5076:Cd34 UTSW 1 194,630,338 (GRCm39) intron probably benign
R5400:Cd34 UTSW 1 194,621,266 (GRCm39) unclassified probably benign
R5414:Cd34 UTSW 1 194,630,219 (GRCm39) missense probably benign 0.05
R5641:Cd34 UTSW 1 194,630,276 (GRCm39) missense probably benign 0.25
R6110:Cd34 UTSW 1 194,631,877 (GRCm39) splice site probably null
R6148:Cd34 UTSW 1 194,630,316 (GRCm39) critical splice donor site probably null
R6234:Cd34 UTSW 1 194,630,308 (GRCm39) missense probably damaging 0.98
R7715:Cd34 UTSW 1 194,631,624 (GRCm39) missense probably damaging 0.98
R8029:Cd34 UTSW 1 194,640,860 (GRCm39) missense probably benign 0.00
R8444:Cd34 UTSW 1 194,640,808 (GRCm39) missense probably benign 0.00
R8490:Cd34 UTSW 1 194,621,281 (GRCm39) missense probably benign 0.41
R8496:Cd34 UTSW 1 194,642,089 (GRCm39) missense probably benign 0.00
R9671:Cd34 UTSW 1 194,641,501 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17