Incidental Mutation 'IGL00937:Cd34'
ID 26661
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd34
Ensembl Gene ENSMUSG00000016494
Gene Name CD34 antigen
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL00937
Quality Score
Status
Chromosome 1
Chromosomal Location 194938819-194961279 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 194960114 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 381 (E381G)
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: E381G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: E381G

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
SMART Domains Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494

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 noncoding transcript
Transcript: ENSMUST00000180780
Predicted Effect probably benign
Transcript: ENSMUST00000194036
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d2a A T 5: 43,688,122 probably null Het
Chka A G 19: 3,892,189 E381G probably benign Het
Dennd1b T A 1: 139,170,239 C673S probably benign Het
E130308A19Rik G A 4: 59,690,846 A227T probably benign Het
F13b T A 1: 139,517,360 probably benign Het
Hipk3 T C 2: 104,433,172 N933D possibly damaging Het
Mmp27 T C 9: 7,578,899 probably benign Het
Nod1 C T 6: 54,937,364 V815I probably benign Het
Olfr411 C T 11: 74,347,429 V52I probably benign Het
Olfr448 T A 6: 42,896,634 F61Y probably damaging Het
Olfr552 T A 7: 102,604,357 M1K probably null Het
Olfr555 T A 7: 102,659,348 S176T probably damaging Het
Olfr613 C A 7: 103,551,857 A24E probably damaging Het
Olfr697 T A 7: 106,741,157 Y259F probably damaging Het
Pms1 T A 1: 53,275,251 E45V possibly damaging Het
Prkcsh T C 9: 22,006,565 S126P possibly damaging Het
Pros1 A T 16: 62,910,045 L299F probably damaging Het
Scrn1 A G 6: 54,520,733 I291T probably benign Het
Slc15a2 A T 16: 36,751,880 Y676* probably null Het
Tenm2 A C 11: 36,024,623 V2028G probably damaging Het
Trpa1 T C 1: 14,880,277 probably benign Het
Other mutations in Cd34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Cd34 APN 1 194949508 missense possibly damaging 0.92
IGL01762:Cd34 APN 1 194939033 missense probably benign 0.07
IGL01861:Cd34 APN 1 194958580 unclassified probably benign
IGL03227:Cd34 APN 1 194958463 missense probably damaging 1.00
R0628:Cd34 UTSW 1 194959217 missense probably damaging 1.00
R2057:Cd34 UTSW 1 194959142 missense probably damaging 1.00
R2249:Cd34 UTSW 1 194947952 missense possibly damaging 0.95
R2435:Cd34 UTSW 1 194939026 missense probably damaging 0.96
R4795:Cd34 UTSW 1 194951011 missense probably damaging 0.98
R5076:Cd34 UTSW 1 194948030 intron probably benign
R5400:Cd34 UTSW 1 194938958 unclassified probably benign
R5414:Cd34 UTSW 1 194947911 missense probably benign 0.05
R5641:Cd34 UTSW 1 194947968 missense probably benign 0.25
R6110:Cd34 UTSW 1 194949569 splice site probably null
R6148:Cd34 UTSW 1 194948008 critical splice donor site probably null
R6234:Cd34 UTSW 1 194948000 missense probably damaging 0.98
R7715:Cd34 UTSW 1 194949316 missense probably damaging 0.98
R8029:Cd34 UTSW 1 194958552 missense probably benign 0.00
R8444:Cd34 UTSW 1 194958500 missense probably benign 0.00
R8490:Cd34 UTSW 1 194938973 missense probably benign 0.41
R8496:Cd34 UTSW 1 194959781 missense probably benign 0.00
R9671:Cd34 UTSW 1 194959193 missense probably damaging 1.00
Posted On 2013-04-17