Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Cd34'

429912

Institutional Source

Beutler Lab

Gene Symbol

Cd34

Ensembl Gene

ENSMUSG00000016494

Gene Name

CD34 antigen

Synonyms

MMRRC Submission

042971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5400 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

194621239-194643587 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 194621266 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

probably benign
Transcript: ENSMUST00000194036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195092

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	C	2: 93,689,767 (GRCm39)	D380G	probably damaging	Het
Afm	T	C	5: 90,699,257 (GRCm39)	L567P	possibly damaging	Het
Anks1b	A	T	10: 90,348,686 (GRCm39)	I785L	probably damaging	Het
Arpc5l	G	A	2: 38,903,747 (GRCm39)	G79S	probably benign	Het
Arvcf	G	T	16: 18,217,820 (GRCm39)	R440L	probably benign	Het
Atm	T	C	9: 53,414,318 (GRCm39)	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,679,060 (GRCm39)		probably null	Het
Cd19	C	T	7: 126,013,624 (GRCm39)	G55D	probably benign	Het
Cd69	T	A	6: 129,246,954 (GRCm39)	M88L	probably benign	Het
Ces2h	A	G	8: 105,745,057 (GRCm39)	E397G	probably benign	Het
Ddx60	T	C	8: 62,463,036 (GRCm39)	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 148,901,514 (GRCm39)	E1124G	probably damaging	Het
Dio1	A	T	4: 107,164,185 (GRCm39)	M44K	probably damaging	Het
Elapor2	A	T	5: 9,529,247 (GRCm39)	N1027Y	probably damaging	Het
En1	A	G	1: 120,531,324 (GRCm39)	D188G	probably damaging	Het
Epha10	C	T	4: 124,807,914 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,623,388 (GRCm39)	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,855,039 (GRCm39)		probably null	Het
Kansl3	A	G	1: 36,397,230 (GRCm39)	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,331,918 (GRCm39)	F73L	probably damaging	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mknk1	C	A	4: 115,721,749 (GRCm39)	L98M	probably damaging	Het
Mknk1	T	A	4: 115,721,750 (GRCm39)	L98Q	probably damaging	Het
Myo3b	T	A	2: 69,935,724 (GRCm39)	C97S	probably damaging	Het
Neto1	A	G	18: 86,414,033 (GRCm39)	H9R	possibly damaging	Het
Omd	A	T	13: 49,745,703 (GRCm39)	E371V	probably benign	Het
Or1n2	A	T	2: 36,797,833 (GRCm39)	I292F	probably damaging	Het
Or2w3b	T	C	11: 58,623,146 (GRCm39)	T282A	possibly damaging	Het
Or4c123	T	C	2: 89,127,257 (GRCm39)	D119G	probably damaging	Het
Or51e2	G	A	7: 102,391,637 (GRCm39)	T191I	probably benign	Het
Osbpl9	G	T	4: 108,919,497 (GRCm39)	Y733*	probably null	Het
Pcdh12	A	T	18: 38,401,951 (GRCm39)	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911 (GRCm38)	P144Q	probably benign	Het
Qser1	A	G	2: 104,620,219 (GRCm39)	S198P	probably damaging	Het
Recql	T	G	6: 142,308,073 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,184,712 (GRCm39)	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,438,100 (GRCm39)	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,598,974 (GRCm39)	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shoc1	A	G	4: 59,082,432 (GRCm39)	S399P	possibly damaging	Het
Slc13a4	A	T	6: 35,278,777 (GRCm39)	C37*	probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a9	T	A	9: 94,594,954 (GRCm39)	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,367 (GRCm39)	K1193M	probably damaging	Het
Swt1	T	C	1: 151,288,585 (GRCm39)	T80A	probably benign	Het
Tmc1	A	G	19: 20,781,966 (GRCm39)	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,654,494 (GRCm39)	F324L	probably benign	Het
Usp19	T	C	9: 108,377,392 (GRCm39)	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wrn	C	T	8: 33,784,945 (GRCm39)	V476I	probably benign	Het
Zbed6	G	A	1: 133,585,879 (GRCm39)	T486I	probably damaging	Het
Zbtb25	C	A	12: 76,396,476 (GRCm39)	E249*	probably null	Het
Zfp54	C	A	17: 21,653,962 (GRCm39)	T152K	probably benign	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
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'- GAGAAATTTGACCCTGCCGAG -3'
(R):5'- AGGATTCCCAGGTGAGGTTAG -3'

Sequencing Primer
(F):5'- CCAAGATGACACACGGTTAAAAGTG -3'
(R):5'- CCAGGTGAGGTTAGTGGCC -3'

Posted On

2016-09-06