Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01861:Cd34'

178345

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) question?

Stock #

IGL01861

Quality Score

Status

Chromosome

Chromosomal Location

194621239-194643587 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 194640888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc5	T	C	17: 56,607,144 (GRCm39)	T34A	possibly damaging	Het
Atm	C	A	9: 53,405,912 (GRCm39)	R1252L	probably null	Het
Cmya5	A	G	13: 93,226,256 (GRCm39)	V2944A	probably damaging	Het
Cntnap3	C	T	13: 64,946,922 (GRCm39)	G169D	probably damaging	Het
Dnah7a	T	A	1: 53,679,508 (GRCm39)	T326S	probably benign	Het
Dnah7a	C	T	1: 53,623,608 (GRCm39)		probably benign	Het
Fam133b	A	G	5: 3,614,242 (GRCm39)		probably benign	Het
Fhod1	A	G	8: 106,057,808 (GRCm39)	S906P	probably damaging	Het
Gli3	A	G	13: 15,899,910 (GRCm39)	Y1099C	probably damaging	Het
Gpr63	C	T	4: 25,008,545 (GRCm39)	T423M	probably damaging	Het
Hpx	A	T	7: 105,241,393 (GRCm39)	Y339*	probably null	Het
Lingo2	A	T	4: 35,709,526 (GRCm39)	D151E	probably benign	Het
Mill2	A	T	7: 18,590,565 (GRCm39)	Q215L	probably damaging	Het
Naf1	T	C	8: 67,317,185 (GRCm39)		probably benign	Het
Ndufv1	A	G	19: 4,058,803 (GRCm39)	V235A	probably benign	Het
Or8b41	T	C	9: 38,055,046 (GRCm39)	I205T	probably damaging	Het
Pafah1b1	A	T	11: 74,581,403 (GRCm39)	N22K	possibly damaging	Het
Prune1	G	T	3: 95,172,868 (GRCm39)	R66S	probably damaging	Het
Ptcd1	A	T	5: 145,095,587 (GRCm39)	I291N	possibly damaging	Het
Ptprk	A	G	10: 28,259,441 (GRCm39)	I294V	possibly damaging	Het
Rfx6	G	A	10: 51,597,675 (GRCm39)	V471M	probably damaging	Het
Rnase6	C	A	14: 51,367,748 (GRCm39)	Q47K	probably benign	Het
Skint5	T	C	4: 113,417,021 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,124,457 (GRCm39)		probably benign	Het
Stap1	A	G	5: 86,244,383 (GRCm39)	I217V	possibly damaging	Het
Taf1d	T	C	9: 15,220,035 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,284,658 (GRCm39)	H809R	probably benign	Het
Tex15	A	G	8: 34,060,717 (GRCm39)	N49S	probably damaging	Het
Tubb4b-ps1	A	G	5: 7,229,374 (GRCm39)		probably benign	Het
Uhrf2	A	G	19: 30,063,804 (GRCm39)	Y589C	probably damaging	Het
Zfp616	A	T	11: 73,973,742 (GRCm39)	T4S	possibly damaging	Het
Zfp687	A	T	3: 94,919,171 (GRCm39)	F200L	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
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

2014-05-07