Incidental Mutation 'R8490:Cd34'
ID 657926
Institutional Source Beutler Lab
Gene Symbol Cd34
Ensembl Gene ENSMUSG00000016494
Gene Name CD34 antigen
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R8490 (G1)
Quality Score 106.008
Status Validated
Chromosome 1
Chromosomal Location 194621239-194643587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 194621281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 3 (V3A)
Ref Sequence ENSEMBL: ENSMUSP00000106439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016638] [ENSMUST00000110815]
AlphaFold Q64314
Predicted Effect probably benign
Transcript: ENSMUST00000016638
AA Change: V3A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: V3A

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: V3A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: V3A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,323,256 (GRCm39) K1609Q probably damaging Het
Arl5a A G 2: 52,314,614 (GRCm39) F12L probably benign Het
Armc9 C T 1: 86,202,125 (GRCm39) T761I probably benign Het
Bmp1 A G 14: 70,727,573 (GRCm39) F670S possibly damaging Het
Cdkn2a A T 4: 89,212,759 (GRCm39) M1K probably null Het
Cep135 C A 5: 76,786,054 (GRCm39) H1052Q probably benign Het
Cfap100 T C 6: 90,390,721 (GRCm39) probably benign Het
Cib4 A T 5: 30,703,075 (GRCm39) Y17N probably damaging Het
Col3a1 T G 1: 45,385,116 (GRCm39) S78A probably benign Het
Crebzf A G 7: 90,092,706 (GRCm39) M162V probably benign Het
Dbx2 T A 15: 95,552,454 (GRCm39) M64L possibly damaging Het
Epb41l2 A T 10: 25,380,128 (GRCm39) T884S probably damaging Het
Erich3 T A 3: 154,401,461 (GRCm39) S37T Het
Eya1 G T 1: 14,254,899 (GRCm39) Q383K possibly damaging Het
Gm15130 A T 2: 110,983,230 (GRCm39) probably null Het
Ido1 A T 8: 25,086,954 (GRCm39) M1K probably null Het
Loxhd1 C T 18: 77,529,162 (GRCm39) T1069M possibly damaging Het
Lrrtm2 T G 18: 35,346,451 (GRCm39) probably null Het
Map1a C T 2: 121,135,045 (GRCm39) H1716Y possibly damaging Het
Mycbp2 T A 14: 103,446,267 (GRCm39) T1854S probably benign Het
Myh13 T C 11: 67,255,351 (GRCm39) S1574P probably damaging Het
Neu1 G A 17: 35,150,982 (GRCm39) A78T probably benign Het
Nfam1 T C 15: 82,907,238 (GRCm39) probably benign Het
Or1e27-ps1 T A 11: 73,555,675 (GRCm39) L80Q probably damaging Het
Or4c10b A C 2: 89,711,511 (GRCm39) T114P probably damaging Het
Or8k33 A T 2: 86,384,027 (GRCm39) M147K probably benign Het
Pdgfra T C 5: 75,331,329 (GRCm39) probably null Het
Ptgfrn A T 3: 100,963,686 (GRCm39) M642K probably damaging Het
R3hdm1 T A 1: 128,162,864 (GRCm39) H980Q probably benign Het
Rfc2 C A 5: 134,611,698 (GRCm39) S19* probably null Het
Rhbdf1 C A 11: 32,160,162 (GRCm39) S738I probably damaging Het
Rif1 T A 2: 52,001,011 (GRCm39) N1488K probably damaging Het
Rnf31 G A 14: 55,833,566 (GRCm39) V525I probably damaging Het
Rps27a T C 11: 29,496,719 (GRCm39) D58G probably benign Het
Serpinc1 T G 1: 160,817,028 (GRCm39) C41G probably damaging Het
Siglece A T 7: 43,309,486 (GRCm39) V24D probably benign Het
Sparcl1 T A 5: 104,233,574 (GRCm39) R592W probably null Het
Stard13 A G 5: 150,987,090 (GRCm39) S104P probably damaging Het
Ston2 A G 12: 91,614,905 (GRCm39) V501A possibly damaging Het
Sv2b C A 7: 74,855,833 (GRCm39) probably null Het
Tiam1 T C 16: 89,681,932 (GRCm39) R349G probably damaging Het
Tmprss11g A G 5: 86,639,976 (GRCm39) probably null Het
Tnik G T 3: 28,650,321 (GRCm39) R507L probably damaging Het
Trabd2b G T 4: 114,460,113 (GRCm39) S417I probably damaging Het
Ube2q1 T A 3: 89,681,308 (GRCm39) V97E probably benign Het
Vim A T 2: 13,584,265 (GRCm39) N306Y probably damaging Het
Vmn1r216 G T 13: 23,283,979 (GRCm39) A221S possibly damaging Het
Vmn2r113 G A 17: 23,177,372 (GRCm39) A719T probably benign Het
Vmn2r66 A G 7: 84,654,794 (GRCm39) probably null Het
Vps45 T C 3: 95,948,661 (GRCm39) S365G probably benign Het
Zzz3 T A 3: 152,134,290 (GRCm39) C449* 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
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
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'- AATTTGACCCTGCCGAGAG -3'
(R):5'- TAAGCTCACTTCTGCGTGCTG -3'

Sequencing Primer
(F):5'- CCAAGATGACACACGGTTAAAAGTG -3'
(R):5'- TGCTGGAGCGCAGGATTC -3'
Posted On 2021-01-18