Incidental Mutation 'IGL03227:Cd34'
| ID |
414136 |
| 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: 0.065)
|
| Stock # |
IGL03227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
194621239-194643587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 194640771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 212
(C212Y)
|
| 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: C212Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: C212Y
| 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 damaging
Transcript: ENSMUST00000110815
AA Change: C212Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: C212Y
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
T |
1: 25,586,556 (GRCm39) |
G172E |
probably damaging |
Het |
| Alas2 |
A |
G |
X: 149,340,262 (GRCm39) |
K151E |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,066,089 (GRCm39) |
T4353A |
probably benign |
Het |
| Arhgef1 |
C |
A |
7: 24,622,276 (GRCm39) |
D554E |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,056,715 (GRCm39) |
L857Q |
probably damaging |
Het |
| Atp2b4 |
C |
A |
1: 133,657,445 (GRCm39) |
|
probably benign |
Het |
| Bche |
C |
A |
3: 73,608,945 (GRCm39) |
K160N |
probably damaging |
Het |
| Bmx |
A |
G |
X: 162,986,192 (GRCm39) |
M537T |
probably damaging |
Het |
| Bysl |
T |
C |
17: 47,922,017 (GRCm39) |
N27S |
probably benign |
Het |
| Ccdc110 |
T |
A |
8: 46,394,586 (GRCm39) |
L159H |
probably damaging |
Het |
| Erich2 |
C |
T |
2: 70,343,114 (GRCm39) |
|
probably benign |
Het |
| Fap |
T |
A |
2: 62,361,107 (GRCm39) |
|
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,452 (GRCm39) |
T254A |
probably benign |
Het |
| Fscn3 |
T |
C |
6: 28,434,429 (GRCm39) |
S335P |
probably benign |
Het |
| Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
| Lbr |
T |
C |
1: 181,663,620 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,255,426 (GRCm39) |
F205L |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,958,435 (GRCm39) |
I550N |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,218,618 (GRCm39) |
|
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,422,468 (GRCm39) |
S563T |
probably damaging |
Het |
| Msra |
A |
G |
14: 64,551,192 (GRCm39) |
V50A |
probably benign |
Het |
| Or7g25 |
A |
G |
9: 19,160,518 (GRCm39) |
M59T |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,711 (GRCm39) |
V363E |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,257,677 (GRCm39) |
T347M |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,999,920 (GRCm39) |
|
probably benign |
Het |
| Rtl9 |
A |
C |
X: 141,882,824 (GRCm39) |
T79P |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,576,410 (GRCm39) |
|
probably null |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Smurf1 |
G |
T |
5: 144,835,992 (GRCm39) |
P123H |
probably damaging |
Het |
| Strn4 |
A |
G |
7: 16,571,639 (GRCm39) |
T590A |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,796,483 (GRCm39) |
S780P |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,764,143 (GRCm39) |
Y250H |
probably benign |
Het |
| Zfp770 |
A |
T |
2: 114,027,570 (GRCm39) |
C166* |
probably null |
Het |
|
| Other mutations in Cd34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
2016-08-02 |
Incidental Mutation