Incidental Mutation 'R9671:Cd34'
ID 728027
Institutional Source Beutler Lab
Gene Symbol Cd34
Ensembl Gene ENSMUSG00000016494
Gene Name CD34 antigen
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R9671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 194621239-194643587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 194641501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 309 (M309K)
Ref Sequence ENSEMBL: ENSMUSP00000016638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016638] [ENSMUST00000110815]
AlphaFold Q64314
Predicted Effect probably damaging
Transcript: ENSMUST00000016638
AA Change: M309K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: M309K

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: M309K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: M309K

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
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
0610040J01Rik T A 5: 64,055,948 (GRCm39) L228* probably null Het
Acsf2 T C 11: 94,460,802 (GRCm39) D368G probably benign Het
Adat2 T A 10: 13,438,452 (GRCm39) N177K probably damaging Het
Adgrf5 G T 17: 43,760,795 (GRCm39) R830M probably damaging Het
Apoh G A 11: 108,286,792 (GRCm39) W72* probably null Het
Bcl2l12 G T 7: 44,642,301 (GRCm39) P195Q probably damaging Het
Cacna1b T C 2: 24,596,282 (GRCm39) M470V probably benign Het
Ccdc188 A T 16: 18,036,268 (GRCm39) R79* probably null Het
Clec4a2 A T 6: 123,101,942 (GRCm39) K32N possibly damaging Het
Csmd3 G T 15: 47,845,299 (GRCm39) P88H Het
Def6 A G 17: 28,438,755 (GRCm39) S154G probably benign Het
Dot1l T C 10: 80,620,613 (GRCm39) L530P probably damaging Het
Fam13a A G 6: 58,951,014 (GRCm39) probably null Het
Fat3 G A 9: 16,286,871 (GRCm39) A884V possibly damaging Het
Frem3 C A 8: 81,339,134 (GRCm39) H476N probably benign Het
Gm3404 T C 5: 146,463,031 (GRCm39) V71A probably benign Het
Hnf4g T G 3: 3,703,273 (GRCm39) S53R probably benign Het
Ighv13-2 T C 12: 114,321,796 (GRCm39) N15D probably benign Het
Jak1 T C 4: 101,034,926 (GRCm39) K339E possibly damaging Het
Klhl35 C G 7: 99,117,702 (GRCm39) P82R probably benign Het
Klhl40 T A 9: 121,607,743 (GRCm39) V301E probably benign Het
Knl1 A T 2: 118,901,089 (GRCm39) N930I probably damaging Het
Ltbp1 A G 17: 75,603,217 (GRCm39) probably null Het
Mapk7 T C 11: 61,382,498 (GRCm39) D68G probably damaging Het
Myo3b A G 2: 70,086,908 (GRCm39) H852R probably damaging Het
Or51a6 A T 7: 102,604,633 (GRCm39) H58Q probably benign Het
Pkd2 A G 5: 104,637,256 (GRCm39) D623G probably damaging Het
Pramel14 A C 4: 143,719,687 (GRCm39) I226S probably benign Het
Rfxank T C 8: 70,588,198 (GRCm39) T118A probably benign Het
Rxrb T A 17: 34,252,020 (GRCm39) probably null Het
Sec14l3 G A 11: 4,025,486 (GRCm39) V337M probably damaging Het
Sema3e A G 5: 14,212,217 (GRCm39) T98A probably benign Het
Ska1 A T 18: 74,333,010 (GRCm39) M136K probably damaging Het
Slc19a3 T C 1: 83,000,297 (GRCm39) D240G probably benign Het
Snph T C 2: 151,436,331 (GRCm39) Y199C probably damaging Het
Sorl1 A T 9: 41,943,077 (GRCm39) I933N possibly damaging Het
Spag16 C A 1: 69,883,495 (GRCm39) H75N probably benign Het
Spice1 C T 16: 44,199,671 (GRCm39) R708C probably benign Het
Tet3 C A 6: 83,381,136 (GRCm39) S344I possibly damaging Het
Trav5-4 A G 14: 53,941,816 (GRCm39) E63G possibly damaging Het
Trp73 G A 4: 154,148,403 (GRCm39) P337L probably benign Het
Ttn A G 2: 76,778,359 (GRCm39) F1343L unknown Het
Vipas39 T C 12: 87,292,985 (GRCm39) H320R probably benign Het
Vmn2r4 T C 3: 64,317,271 (GRCm39) I156V probably benign Het
Wdr81 T C 11: 75,345,189 (GRCm39) D26G probably damaging Het
Zscan4d A T 7: 10,898,945 (GRCm39) F111I probably 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
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
Predicted Primers PCR Primer
(F):5'- GAGTGGTCTGGACTTCTCACTAG -3'
(R):5'- TTGCTGCATGATGTCCCTAC -3'

Sequencing Primer
(F):5'- GAAGTCCTTTTCCACAAGTGACATGC -3'
(R):5'- GTAAGTACAATATCTTCCTGCATGC -3'
Posted On 2022-10-06