Incidental Mutation 'R6234:Cd34'
ID 504802
Institutional Source Beutler Lab
Gene Symbol Cd34
Ensembl Gene ENSMUSG00000016494
Gene Name CD34 antigen
Synonyms
MMRRC Submission 044399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6234 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 194621239-194643587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 194630308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 81 (I81F)
Ref Sequence ENSEMBL: ENSMUSP00000106439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016638] [ENSMUST00000110815]
AlphaFold Q64314
Predicted Effect probably damaging
Transcript: ENSMUST00000016638
AA Change: I81F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: I81F

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 damaging
Transcript: ENSMUST00000110815
AA Change: I81F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: I81F

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: I71F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194458
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgb A C 10: 10,228,824 (GRCm39) probably null Het
Aldoart1 A G 4: 72,770,409 (GRCm39) I78T probably damaging Het
Bcl2l2 A G 14: 55,122,245 (GRCm39) D136G probably benign Het
Bltp1 A G 3: 37,037,620 (GRCm39) T2475A probably benign Het
Chmp1b T A 18: 67,339,169 (GRCm39) *200R probably null Het
Clic6 T C 16: 92,296,110 (GRCm39) S257P probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Eef1akmt2 T C 7: 132,429,585 (GRCm39) T215A probably damaging Het
Fbrsl1 G A 5: 110,525,917 (GRCm39) T95I probably damaging Het
Fer1l6 T C 15: 58,432,488 (GRCm39) I345T probably damaging Het
Fmn1 T C 2: 113,196,000 (GRCm39) F567L unknown Het
Ftdc1 T A 16: 58,435,034 (GRCm39) D97V probably benign Het
Gabrg1 A T 5: 70,999,484 (GRCm39) L22I probably benign Het
Gfm1 A G 3: 67,342,847 (GRCm39) D127G probably damaging Het
Gm5114 T A 7: 39,058,768 (GRCm39) T284S probably benign Het
Gm9925 A T 18: 74,198,308 (GRCm39) probably benign Het
Hc T C 2: 34,918,058 (GRCm39) I742V probably benign Het
Heatr5a A T 12: 51,924,237 (GRCm39) M1992K possibly damaging Het
Homer3 T C 8: 70,743,815 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Il21r A G 7: 125,231,757 (GRCm39) D395G probably damaging Het
Kctd14 T A 7: 97,107,219 (GRCm39) V190E probably damaging Het
Mamdc4 C G 2: 25,460,092 (GRCm39) G57A probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mtch1 A T 17: 29,559,485 (GRCm39) probably null Het
Nasp G A 4: 116,479,979 (GRCm39) A31V possibly damaging Het
Neil3 G T 8: 54,061,774 (GRCm39) D202E probably damaging Het
Nfkb1 C T 3: 135,332,471 (GRCm39) V95I possibly damaging Het
Ptpra T A 2: 130,379,508 (GRCm39) M327K probably damaging Het
Ptprg C A 14: 12,213,747 (GRCm38) F263L probably damaging Het
Sap30 A G 8: 57,938,152 (GRCm39) V155A probably damaging Het
Serpinb2 G A 1: 107,452,501 (GRCm39) V360M probably damaging Het
Stradb A G 1: 59,027,707 (GRCm39) H79R probably damaging Het
Svep1 A T 4: 58,113,458 (GRCm39) probably null Het
Tcaf2 A T 6: 42,607,308 (GRCm39) H215Q probably benign Het
Tdrd5 A T 1: 156,120,947 (GRCm39) S227T possibly damaging Het
Timmdc1 A T 16: 38,338,861 (GRCm39) Y76* probably null Het
Tmbim4 T A 10: 120,057,628 (GRCm39) probably null Het
Tpr A G 1: 150,293,790 (GRCm39) K854R probably benign Het
Trav6-5 A G 14: 53,728,832 (GRCm39) T30A probably benign Het
Trrap T A 5: 144,776,523 (GRCm39) probably null Het
Ube2o A T 11: 116,430,316 (GRCm39) S1141T probably benign Het
Usp54 T A 14: 20,633,518 (GRCm39) K339I probably damaging Het
Vwf T G 6: 125,634,128 (GRCm39) V202G unknown Het
Wdr7 T C 18: 63,857,203 (GRCm39) L93P probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null 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
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
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'- CCTCTTGGTTTACAGATCTAAATAACT -3'
(R):5'- GTTTCCAACACAGAGAAAGCTATT -3'

Sequencing Primer
(F):5'- ATAACTTGACTTCTGCTACCACGGAG -3'
(R):5'- AGTGGATGCTCACAGTCATC -3'
Posted On 2018-02-28