Mutagenetix > Incidental Mutation

Incidental Mutation 'R5414:Cd34'

427617

Institutional Source

Beutler Lab

Gene Symbol

Cd34

Ensembl Gene

ENSMUSG00000016494

Gene Name

CD34 antigen

Synonyms

MMRRC Submission

042983-MU

Accession Numbers

Essential gene?

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

Stock #

R5414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

194621239-194643587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 194630219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 51 (E51G)

Ref Sequence

ENSEMBL: ENSMUSP00000106439 (fasta)

Gene Model

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

AlphaFold

Q64314

Predicted Effect

probably benign
Transcript: ENSMUST00000016638
AA Change: E51G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: E51G

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: E51G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: E51G

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: E41G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194458

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (55/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,205,448 (GRCm39)	S278P	probably damaging	Het
Acan	A	G	7: 78,750,736 (GRCm39)	T1836A	probably benign	Het
Akr1c18	T	A	13: 4,186,734 (GRCm39)	D238V	probably damaging	Het
Akt3	A	G	1: 176,877,817 (GRCm39)	V317A	probably damaging	Het
Atp2b2	G	A	6: 113,819,102 (GRCm39)	P64S	probably damaging	Het
Atr	A	G	9: 95,752,757 (GRCm39)	N609S	probably benign	Het
Bcat1	A	G	6: 144,961,173 (GRCm39)		probably null	Het
C1rl	C	T	6: 124,485,427 (GRCm39)	A266V	probably damaging	Het
Celsr3	A	G	9: 108,717,241 (GRCm39)	E2161G	possibly damaging	Het
Clec2h	G	T	6: 128,651,749 (GRCm39)	A153S	probably benign	Het
Cnih1	T	C	14: 47,016,440 (GRCm39)	T105A	probably benign	Het
Coro1c	A	G	5: 113,986,607 (GRCm39)	I279T	possibly damaging	Het
Ddx11	A	G	17: 66,455,763 (GRCm39)	T721A	probably benign	Het
Fbn2	C	A	18: 58,226,477 (GRCm39)	A766S	probably damaging	Het
Focad	C	T	4: 88,328,939 (GRCm39)		probably benign	Het
Galnt16	A	T	12: 80,630,822 (GRCm39)	D300V	probably damaging	Het
Gbp2b	T	C	3: 142,304,852 (GRCm39)	L96P	probably damaging	Het
Gm10192	T	C	4: 97,071,346 (GRCm39)	S20G	probably null	Het
Gm10288	T	C	3: 146,544,717 (GRCm39)		noncoding transcript	Het
Gm4181	C	T	14: 51,873,047 (GRCm39)		probably null	Het
Gm6327	T	A	16: 12,578,222 (GRCm39)		noncoding transcript	Het
Hfm1	A	G	5: 107,049,942 (GRCm39)	I409T	probably damaging	Het
Ibtk	T	C	9: 85,608,742 (GRCm39)	E390G	possibly damaging	Het
Ifit1bl1	T	A	19: 34,571,324 (GRCm39)	I378F	probably damaging	Het
Kcnh4	T	C	11: 100,637,722 (GRCm39)	D645G	probably damaging	Het
Krt33b	T	C	11: 99,920,612 (GRCm39)	T14A	probably benign	Het
Lrch3	T	A	16: 32,806,335 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,543,697 (GRCm39)	L226H	probably damaging	Het
Myo1e	C	A	9: 70,229,640 (GRCm39)		probably null	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nploc4	A	T	11: 120,304,469 (GRCm39)	Y251N	probably damaging	Het
Or4b12	T	C	2: 90,096,046 (GRCm39)	T243A	probably benign	Het
Pdk4	T	C	6: 5,485,499 (GRCm39)	I397V	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Pgm5	A	G	19: 24,686,689 (GRCm39)	I506T	probably damaging	Het
Pgs1	T	G	11: 117,905,502 (GRCm39)	I499S	probably damaging	Het
Ppp6r3	A	G	19: 3,557,330 (GRCm39)	S253P	probably damaging	Het
Prag1	C	G	8: 36,606,776 (GRCm39)	P839R	probably benign	Het
Rin3	C	T	12: 102,356,116 (GRCm39)	Q806*	probably null	Het
Ros1	T	C	10: 52,031,189 (GRCm39)	D484G	probably damaging	Het
Scamp5	A	G	9: 57,354,507 (GRCm39)	V49A	probably benign	Het
Sis	C	A	3: 72,859,826 (GRCm39)	V310L	probably benign	Het
Svep1	T	C	4: 58,206,322 (GRCm39)	T19A	possibly damaging	Het
Tcstv2b	A	C	13: 120,373,872 (GRCm39)	D139E	probably damaging	Het
Tenm3	A	C	8: 48,689,390 (GRCm39)	S2066A	probably damaging	Het
Thra	A	G	11: 98,651,783 (GRCm39)	I102V	probably benign	Het
Trim30a	A	C	7: 104,060,348 (GRCm39)	V476G	probably damaging	Het
Vmn2r3	T	A	3: 64,166,978 (GRCm39)	R718*	probably null	Het
Washc4	A	G	10: 83,391,967 (GRCm39)	T218A	possibly damaging	Het
Xrcc1	A	G	7: 24,269,643 (GRCm39)	Y401C	probably damaging	Het
Zfp629	T	C	7: 127,210,454 (GRCm39)	T452A	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
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'- CAGTCAGATTCACCTAAAGCCATG -3'
(R):5'- CCAGTATAGGGGAATGCCAG -3'

Sequencing Primer
(F):5'- CAGATTCACCTAAAGCCATGAAGTTG -3'
(R):5'- GGGGATAGCATTTGAAATGTAAATG -3'

Posted On

2016-09-01