Mutagenetix > Incidental Mutation

Incidental Mutation 'R8496:Cd34'

658257

Institutional Source

Beutler Lab

Gene Symbol

Cd34

Ensembl Gene

ENSMUSG00000016494

Gene Name

CD34 antigen

Synonyms

MMRRC Submission

067938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

194621239-194643587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 194642089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 322 (E322G)

Ref Sequence

ENSEMBL: ENSMUSP00000106439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016638] [ENSMUST00000110815]

AlphaFold

Q64314

Predicted Effect

probably benign
Transcript: ENSMUST00000016638

SMART Domains

Protein: ENSMUSP00000016638
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	382	2.3e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110815
AA Change: E322G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: E322G

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

probably benign
Transcript: ENSMUST00000194036

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,645,120 (GRCm39)	E335G	probably benign	Het
Afp	C	T	5: 90,639,572 (GRCm39)	S34F	probably damaging	Het
Ano6	T	A	15: 95,847,807 (GRCm39)	I639N	probably damaging	Het
Atp13a1	T	G	8: 70,250,618 (GRCm39)	V411G	probably damaging	Het
Cadm2	A	T	16: 66,461,309 (GRCm39)	C383S	probably damaging	Het
Capn2	T	C	1: 182,304,840 (GRCm39)	I556V	probably benign	Het
Cel	T	C	2: 28,446,200 (GRCm39)	D557G	probably benign	Het
Cemip	T	C	7: 83,600,634 (GRCm39)	I996V	probably benign	Het
Clca3a1	A	T	3: 144,453,182 (GRCm39)	*514R	probably null	Het
Cry2	C	G	2: 92,257,284 (GRCm39)	R95P	probably damaging	Het
Ctse	T	A	1: 131,592,118 (GRCm39)	I148N	probably damaging	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dsn1	C	T	2: 156,839,640 (GRCm39)	V254M	probably benign	Het
Fcgbpl1	A	G	7: 27,843,377 (GRCm39)	D755G	possibly damaging	Het
Gm4847	T	A	1: 166,469,761 (GRCm39)	H104L	possibly damaging	Het
Gpr88	T	C	3: 116,046,117 (GRCm39)	T65A	possibly damaging	Het
Gtse1	A	G	15: 85,746,283 (GRCm39)	D33G	probably damaging	Het
Ints6	A	G	14: 62,943,325 (GRCm39)	Y455H	probably benign	Het
Kctd1	A	T	18: 15,107,228 (GRCm39)	C150S	probably damaging	Het
Kctd11	T	G	11: 69,770,877 (GRCm39)	T54P	probably damaging	Het
Kif1b	C	A	4: 149,277,068 (GRCm39)	G56*	probably null	Het
Kifap3	T	A	1: 163,656,866 (GRCm39)		probably null	Het
Naip5	G	T	13: 100,349,247 (GRCm39)	H1360Q	probably benign	Het
Ncapd2	T	C	6: 125,147,127 (GRCm39)	E1198G	probably damaging	Het
Nova1	T	A	12: 46,760,325 (GRCm39)	K90*	probably null	Het
Odc1	T	A	12: 17,598,396 (GRCm39)	L179H	probably damaging	Het
Or10w1	T	A	19: 13,632,388 (GRCm39)	H193Q	probably damaging	Het
Or1ad8	T	C	11: 50,897,877 (GRCm39)	V26A	probably benign	Het
Or1s2	A	G	19: 13,758,384 (GRCm39)	N136S	probably benign	Het
Palm	C	T	10: 79,642,485 (GRCm39)	T6I	probably benign	Het
Parp10	T	A	15: 76,117,749 (GRCm39)	D879V	probably damaging	Het
Phf2	A	G	13: 48,971,181 (GRCm39)	V497A	unknown	Het
Pparg	A	G	6: 115,440,112 (GRCm39)	I199V	probably benign	Het
Ppm1b	T	A	17: 85,301,660 (GRCm39)	I180N	probably damaging	Het
Prdx5	A	T	19: 6,885,542 (GRCm39)	C37*	probably null	Het
Ptprz1	A	T	6: 22,972,797 (GRCm39)	T236S	probably damaging	Het
Rab5b	G	A	10: 128,518,776 (GRCm39)	Q119*	probably null	Het
Rdh19	T	A	10: 127,695,469 (GRCm39)	W228R	probably damaging	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Secisbp2	T	C	13: 51,819,383 (GRCm39)	V321A	probably damaging	Het
Slc6a5	T	A	7: 49,585,960 (GRCm39)	V426D	probably damaging	Het
Syne1	T	A	10: 5,178,896 (GRCm39)	E4526V	probably damaging	Het
Syne1	T	C	10: 5,268,441 (GRCm39)	K2083E	probably damaging	Het
Tecta	T	A	9: 42,241,547 (GRCm39)	I2143F	probably benign	Het
Tfap4	T	C	16: 4,369,170 (GRCm39)	D90G	probably damaging	Het
Ttll12	T	C	15: 83,462,010 (GRCm39)	Y569C	probably damaging	Het
Zfp326	T	G	5: 106,036,451 (GRCm39)	S121A	probably damaging	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
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
R9671:Cd34	UTSW	1	194,641,501 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGGGTGCCATTTTGCTCAC -3'
(R):5'- TCTCCGTGTAATAAGGGTCTTC -3'

Sequencing Primer
(F):5'- GCCATTTTGCTCACAAACATGGG -3'
(R):5'- GAGCAGGTACAGCTACAT -3'

Posted On

2021-01-18