Incidental Mutation 'R2249:Cd34'
ID 240755
Institutional Source Beutler Lab
Gene Symbol Cd34
Ensembl Gene ENSMUSG00000016494
Gene Name CD34 antigen
Synonyms
MMRRC Submission 040249-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R2249 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 194621239-194643587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 194630260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 65 (T65P)
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: T65P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: T65P

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: T65P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: T65P

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: T55P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194458
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b G A 15: 101,100,975 (GRCm39) R379Q probably null Het
Adam23 C T 1: 63,574,335 (GRCm39) Q276* probably null Het
Apob A T 12: 8,057,499 (GRCm39) S1961C probably damaging Het
Atxn7l1 C T 12: 33,408,839 (GRCm39) P334S probably damaging Het
Ccnb1 T C 13: 100,917,827 (GRCm39) M258V possibly damaging Het
Cog6 A G 3: 52,907,900 (GRCm39) probably null Het
Cp T C 3: 20,041,734 (GRCm39) M953T probably damaging Het
Cwc27 C T 13: 104,768,130 (GRCm39) R455Q unknown Het
Dhx57 A T 17: 80,588,663 (GRCm39) D63E probably damaging Het
Elapor1 A T 3: 108,378,726 (GRCm39) Y409* probably null Het
Flt4 T A 11: 49,536,786 (GRCm39) M1252K possibly damaging Het
Gfral C T 9: 76,100,631 (GRCm39) C269Y probably damaging Het
Itih4 C T 14: 30,621,351 (GRCm39) Q788* probably null Het
Kif18b A G 11: 102,803,214 (GRCm39) S499P probably benign Het
Map1a G C 2: 121,130,768 (GRCm39) R528P probably damaging Het
Map3k5 T C 10: 20,003,443 (GRCm39) F1152L probably damaging Het
Marveld2 T C 13: 100,748,599 (GRCm39) D160G probably benign Het
Mtcl2 A T 2: 156,882,013 (GRCm39) C680S probably benign Het
Mug1 A T 6: 121,847,469 (GRCm39) M616L probably benign Het
Ndst4 A T 3: 125,231,823 (GRCm39) I131F probably benign Het
Neto1 G T 18: 86,479,399 (GRCm39) A196S probably benign Het
Notum A G 11: 120,545,237 (GRCm39) F441L probably benign Het
Nsmce4a A G 7: 130,140,769 (GRCm39) I239T probably benign Het
Or51g1 A T 7: 102,633,647 (GRCm39) N241K possibly damaging Het
Or52z14 T A 7: 103,252,943 (GRCm39) D27E probably benign Het
Or5d35 A T 2: 87,855,707 (GRCm39) I214F probably damaging Het
Or6s1 T A 14: 51,307,870 (GRCm39) K327* probably null Het
Or6x1 A T 9: 40,098,980 (GRCm39) T190S possibly damaging Het
Or8k40 A G 2: 86,584,398 (GRCm39) M228T probably damaging Het
Pde4dip A T 3: 97,700,841 (GRCm39) V221D probably damaging Het
Pkp1 T C 1: 135,808,545 (GRCm39) Y474C probably damaging Het
Ptk6 A C 2: 180,838,173 (GRCm39) H363Q probably benign Het
Rb1cc1 T C 1: 6,342,948 (GRCm39) W187R probably damaging Het
Rbfox3 A T 11: 118,394,564 (GRCm39) F132L probably damaging Het
Rcl1 A T 19: 29,099,268 (GRCm39) I188F possibly damaging Het
Scfd1 T A 12: 51,462,299 (GRCm39) S385T possibly damaging Het
Sema6d A G 2: 124,501,508 (GRCm39) E483G possibly damaging Het
Semp2l2b T C 10: 21,943,015 (GRCm39) I322V possibly damaging Het
Sipa1l1 T C 12: 82,388,890 (GRCm39) V372A probably benign Het
Slc17a6 G A 7: 51,317,654 (GRCm39) G429D probably damaging Het
Slc22a5 A G 11: 53,774,532 (GRCm39) V151A possibly damaging Het
Spidr T C 16: 15,936,787 (GRCm39) D106G probably damaging Het
Tekt3 A T 11: 62,974,778 (GRCm39) T366S probably benign Het
Trpm3 T C 19: 22,710,398 (GRCm39) M281T probably benign Het
Ttn A G 2: 76,782,485 (GRCm39) V917A probably damaging Het
Tubgcp4 A T 2: 121,014,110 (GRCm39) D221V possibly damaging Het
Ubr4 C T 4: 139,176,232 (GRCm39) R3153W probably damaging Het
Vmn1r89 A C 7: 12,954,187 (GRCm39) T308P possibly damaging Het
Vmn2r59 A G 7: 41,708,326 (GRCm39) I27T probably benign Het
Vps13c T G 9: 67,895,335 (GRCm39) probably null Het
Zfp142 A G 1: 74,606,191 (GRCm39) V1793A probably damaging Het
Zfp472 T A 17: 33,197,109 (GRCm39) C395S possibly damaging Het
Other mutations in Cd34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Cd34 APN 1 194,642,422 (GRCm39) missense probably damaging 1.00
IGL00979:Cd34 APN 1 194,631,816 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- GTTCCAGGAAGGTTGAGTTCTAA -3'
(R):5'- CAACACAGAGAAAGCTATTTAGAACT -3'

Sequencing Primer
(F):5'- CAGGAAGGTTGAGTTCTAACTTGTCC -3'
(R):5'- TGTGAAGATTCTATGCCCCAG -3'
Posted On 2014-10-15