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 |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL00937
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
194621239-194643587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 194642422 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cc2d2a |
A |
T |
5: 43,845,464 (GRCm39) |
|
probably null |
Het |
| Chka |
A |
G |
19: 3,942,189 (GRCm39) |
E381G |
probably benign |
Het |
| Dennd1b |
T |
A |
1: 139,097,977 (GRCm39) |
C673S |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,690,846 (GRCm39) |
A227T |
probably benign |
Het |
| F13b |
T |
A |
1: 139,445,098 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,263,517 (GRCm39) |
N933D |
possibly damaging |
Het |
| Mmp27 |
T |
C |
9: 7,578,900 (GRCm39) |
|
probably benign |
Het |
| Nod1 |
C |
T |
6: 54,914,349 (GRCm39) |
V815I |
probably benign |
Het |
| Or2a5 |
T |
A |
6: 42,873,568 (GRCm39) |
F61Y |
probably damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,364 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or3a1d |
C |
T |
11: 74,238,255 (GRCm39) |
V52I |
probably benign |
Het |
| Or51ab3 |
C |
A |
7: 103,201,064 (GRCm39) |
A24E |
probably damaging |
Het |
| Or51h1 |
T |
A |
7: 102,308,555 (GRCm39) |
S176T |
probably damaging |
Het |
| Or52k2 |
T |
A |
7: 102,253,564 (GRCm39) |
M1K |
probably null |
Het |
| Pms1 |
T |
A |
1: 53,314,410 (GRCm39) |
E45V |
possibly damaging |
Het |
| Prkcsh |
T |
C |
9: 21,917,861 (GRCm39) |
S126P |
possibly damaging |
Het |
| Pros1 |
A |
T |
16: 62,730,408 (GRCm39) |
L299F |
probably damaging |
Het |
| Scrn1 |
A |
G |
6: 54,497,718 (GRCm39) |
I291T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,572,242 (GRCm39) |
Y676* |
probably null |
Het |
| Tenm2 |
A |
C |
11: 35,915,450 (GRCm39) |
V2028G |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,950,501 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cd34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9671:Cd34
|
UTSW |
1 |
194,641,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation