Incidental Mutation 'R2435:Cd34'
| ID |
249527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd34
|
| Ensembl Gene |
ENSMUSG00000016494 |
| Gene Name |
CD34 antigen |
| Synonyms |
|
| MMRRC Submission |
040396-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2435 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
194621239-194643587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 194621334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 21
(C21S)
|
| 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: C21S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: C21S
| 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: C21S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: C21S
| 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 |
unknown
Transcript: ENSMUST00000194036
AA Change: C11S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194458
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195092
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,898,294 (GRCm39) |
T226I |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,369,704 (GRCm39) |
N102D |
probably damaging |
Het |
| Cdh18 |
C |
T |
15: 23,367,094 (GRCm39) |
R267W |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,411,490 (GRCm39) |
N966K |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,265,855 (GRCm39) |
V44A |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,323,083 (GRCm39) |
N2828I |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,839,929 (GRCm39) |
|
probably null |
Het |
| Fshr |
A |
T |
17: 89,508,024 (GRCm39) |
V6D |
unknown |
Het |
| Gcc2 |
A |
G |
10: 58,130,602 (GRCm39) |
D1398G |
probably damaging |
Het |
| Gpi1 |
G |
A |
7: 33,905,254 (GRCm39) |
A390V |
probably damaging |
Het |
| Gypa |
G |
T |
8: 81,233,397 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ifna13 |
T |
A |
4: 88,562,366 (GRCm39) |
Q86L |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,012,763 (GRCm39) |
C698* |
probably null |
Het |
| Ivns1abp |
T |
C |
1: 151,239,061 (GRCm39) |
V625A |
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,531,345 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
G |
A |
16: 94,563,538 (GRCm39) |
T320M |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,368 (GRCm39) |
I248T |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,371,841 (GRCm39) |
Y2647F |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or4k15 |
T |
C |
14: 50,364,211 (GRCm39) |
M59T |
probably damaging |
Het |
| Or6c217 |
G |
T |
10: 129,738,173 (GRCm39) |
N135K |
possibly damaging |
Het |
| Pard3b |
T |
A |
1: 62,626,897 (GRCm39) |
V1059E |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,377,334 (GRCm39) |
I1585L |
probably benign |
Het |
| Pramel31 |
A |
T |
4: 144,089,473 (GRCm39) |
I264F |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,741 (GRCm39) |
S1791C |
probably damaging |
Het |
| Rbmxl2 |
C |
A |
7: 106,809,538 (GRCm39) |
S274R |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,475 (GRCm39) |
E168G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,819,237 (GRCm39) |
S1440P |
probably benign |
Het |
| Snrnp40 |
A |
G |
4: 130,278,344 (GRCm39) |
H283R |
probably damaging |
Het |
| Tcaf2 |
G |
T |
6: 42,607,298 (GRCm39) |
Q219K |
possibly damaging |
Het |
| Tenm3 |
C |
T |
8: 48,740,988 (GRCm39) |
R803H |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,287,465 (GRCm39) |
D234G |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,514 (GRCm39) |
F653S |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,656,753 (GRCm39) |
S151P |
possibly damaging |
Het |
| Vmn2r50 |
C |
A |
7: 9,787,026 (GRCm39) |
W27L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,436,836 (GRCm39) |
S2006G |
unknown |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTGACCCTGCCGAGAG -3'
(R):5'- TTGAGCTTTGCACCTCCAGC -3'
Sequencing Primer
(F):5'- AGGGGATAAGCCAGCATCCC -3'
(R):5'- TCCAGCCACGCAGAGGAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation