Mutagenetix > Incidental Mutation

Incidental Mutation 'R7945:Dcstamp'

649312

Institutional Source

Beutler Lab

Gene Symbol

Dcstamp

Ensembl Gene

ENSMUSG00000022303

Gene Name

dendrocyte expressed seven transmembrane protein

Synonyms

4833414I07Rik, Tm7sf4, DC-STAMP

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.441) question?

Stock #

R7945 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39609326-39624334 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 39623797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 471 (*471R)

Ref Sequence

ENSEMBL: ENSMUSP00000022913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556]

AlphaFold

Q7TNJ0

Predicted Effect

probably null
Transcript: ENSMUST00000022913
AA Change: *471R

SMART Domains

Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: *471R

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
transmembrane domain	58	75	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
transmembrane domain	214	236	N/A	INTRINSIC
Pfam:DC_STAMP	242	421	1e-57	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000227368
AA Change: *415R

Predicted Effect

probably benign
Transcript: ENSMUST00000227792

Predicted Effect

probably null
Transcript: ENSMUST00000228556
AA Change: *368R

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Targeted disruption of this gene causes complete loss of osteoclast and macrophage cell fusion and leads to reduced bone-resorbing activity and mild osteopetrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	A	8: 13,271,929 (GRCm39)	R1610W	probably damaging	Het
Afg3l1	C	A	8: 124,216,661 (GRCm39)	A300E	probably benign	Het
Ano6	A	G	15: 95,839,190 (GRCm39)	Y423C	probably damaging	Het
Armh4	T	A	14: 50,010,670 (GRCm39)	T346S	probably benign	Het
Bltp1	G	A	3: 37,020,042 (GRCm39)	V2093I	probably benign	Het
Casp8ap2	A	G	4: 32,645,909 (GRCm39)	T1661A	probably benign	Het
Cdc42ep1	T	A	15: 78,731,973 (GRCm39)	S139R	possibly damaging	Het
Cep57	A	G	9: 13,730,227 (GRCm39)	Y104H	probably damaging	Het
Chrna4	T	C	2: 180,670,454 (GRCm39)	D434G	probably benign	Het
Clec1a	T	C	6: 129,409,150 (GRCm39)	S159G	probably benign	Het
Cltc	A	T	11: 86,627,967 (GRCm39)	N60K	probably benign	Het
Cpq	T	A	15: 33,594,382 (GRCm39)	D464E	probably benign	Het
Ctcfl	A	C	2: 172,960,451 (GRCm39)	V44G	probably benign	Het
Disp2	G	A	2: 118,623,270 (GRCm39)	R1334H	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Ephb3	A	G	16: 21,040,434 (GRCm39)	T811A	probably damaging	Het
Fbxo21	T	C	5: 118,146,212 (GRCm39)	Y612H	possibly damaging	Het
Gm8005	T	A	14: 42,260,330 (GRCm39)	D102V		Het
Golgb1	T	C	16: 36,734,466 (GRCm39)	S1279P	probably benign	Het
Hdgfl3	T	C	7: 81,583,706 (GRCm39)	Y22C	possibly damaging	Het
Hpse2	T	C	19: 43,373,248 (GRCm39)	N127S	probably benign	Het
Hrnr	G	T	3: 93,239,506 (GRCm39)	G3248V	unknown	Het
Krtap27-1	T	C	16: 88,468,340 (GRCm39)	N68S	probably benign	Het
Lipo3	T	C	19: 33,533,831 (GRCm39)	M334V	probably benign	Het
Lrrc34	A	G	3: 30,696,886 (GRCm39)		probably null	Het
Ltbp1	T	G	17: 75,697,546 (GRCm39)	*1713G	probably null	Het
Lypd6b	A	G	2: 49,833,612 (GRCm39)	E84G	probably damaging	Het
Meiosin	T	A	7: 18,834,011 (GRCm39)	K508N	unknown	Het
Mitd1	T	C	1: 37,924,346 (GRCm39)	Y68C	probably damaging	Het
Mrgprx2	T	C	7: 48,132,753 (GRCm39)	T22A	probably benign	Het
Mroh4	C	T	15: 74,496,554 (GRCm39)	E278K	probably damaging	Het
Mtmr4	T	C	11: 87,495,254 (GRCm39)	V437A	probably damaging	Het
Neb	T	C	2: 52,161,360 (GRCm39)	D2144G	probably damaging	Het
Obscn	T	A	11: 58,984,235 (GRCm39)	E1740V	probably damaging	Het
Or2bd2	A	G	7: 6,443,354 (GRCm39)	T152A	probably benign	Het
Or8i2	A	G	2: 86,852,657 (GRCm39)	V77A	probably benign	Het
Pcsk1	G	A	13: 75,280,211 (GRCm39)	A679T	probably benign	Het
Pdap1	G	A	5: 145,068,249 (GRCm39)	A138V	probably damaging	Het
Pdzph1	T	C	17: 59,239,455 (GRCm39)	T958A	probably damaging	Het
Plekha5	T	A	6: 140,526,201 (GRCm39)	H946Q	possibly damaging	Het
Ppat	C	A	5: 77,063,238 (GRCm39)	V458L	probably benign	Het
Rock1	A	G	18: 10,116,831 (GRCm39)	L435P	probably damaging	Het
Rtn2	T	A	7: 19,020,987 (GRCm39)	S153R	probably benign	Het
Serpinb1c	A	T	13: 33,070,192 (GRCm39)	H123Q	probably benign	Het
Slc1a5	C	A	7: 16,523,807 (GRCm39)	R271S	possibly damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc7a6	C	T	8: 106,906,239 (GRCm39)	P157L	possibly damaging	Het
Syne2	A	T	12: 75,951,079 (GRCm39)	E410V	probably damaging	Het
Tasor2	A	T	13: 3,626,085 (GRCm39)	S1288R	probably benign	Het
Thoc2l	G	T	5: 104,666,413 (GRCm39)	V312F	possibly damaging	Het
Treh	T	C	9: 44,592,584 (GRCm39)	V63A	probably damaging	Het
Trim50	T	A	5: 135,382,156 (GRCm39)	W3R	probably benign	Het
Ttc6	T	G	12: 57,707,229 (GRCm39)	L712R	possibly damaging	Het
Ttn	G	T	2: 76,715,309 (GRCm39)	Q7928K	unknown	Het
Ugt3a1	T	C	15: 9,284,261 (GRCm39)		probably null	Het
Wapl	T	C	14: 34,399,105 (GRCm39)	I58T	probably benign	Het
Zgrf1	A	G	3: 127,356,409 (GRCm39)	E545G	probably benign	Het
Zmat4	T	A	8: 24,238,436 (GRCm39)	I6N	possibly damaging	Het
Zp3r	G	T	1: 130,524,560 (GRCm39)	P226Q	probably damaging	Het

Other mutations in Dcstamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Dcstamp	APN	15	39,617,812 (GRCm39)	missense	probably benign	0.05
IGL01963:Dcstamp	APN	15	39,623,755 (GRCm39)	missense	possibly damaging	0.82
IGL02132:Dcstamp	APN	15	39,617,928 (GRCm39)	missense	probably damaging	0.97
IGL02139:Dcstamp	APN	15	39,617,854 (GRCm39)	missense	probably damaging	1.00
IGL02607:Dcstamp	APN	15	39,617,980 (GRCm39)	missense	possibly damaging	0.94
IGL03003:Dcstamp	APN	15	39,617,906 (GRCm39)	missense	possibly damaging	0.64
IGL03061:Dcstamp	APN	15	39,623,793 (GRCm39)	missense	possibly damaging	0.81
IGL03191:Dcstamp	APN	15	39,617,620 (GRCm39)	missense	probably benign	0.00
R1144:Dcstamp	UTSW	15	39,623,764 (GRCm39)	missense	possibly damaging	0.94
R1186:Dcstamp	UTSW	15	39,618,025 (GRCm39)	splice site	probably null
R1663:Dcstamp	UTSW	15	39,618,340 (GRCm39)	nonsense	probably null
R2117:Dcstamp	UTSW	15	39,618,571 (GRCm39)	nonsense	probably null
R2202:Dcstamp	UTSW	15	39,617,708 (GRCm39)	missense	probably damaging	0.99
R4484:Dcstamp	UTSW	15	39,617,620 (GRCm39)	missense	probably benign	0.00
R4642:Dcstamp	UTSW	15	39,618,118 (GRCm39)	missense	probably benign	0.01
R5384:Dcstamp	UTSW	15	39,622,715 (GRCm39)	missense	probably damaging	0.99
R5529:Dcstamp	UTSW	15	39,617,932 (GRCm39)	missense	probably benign	0.04
R5558:Dcstamp	UTSW	15	39,622,936 (GRCm39)	missense	probably damaging	1.00
R5562:Dcstamp	UTSW	15	39,617,798 (GRCm39)	missense	possibly damaging	0.88
R6261:Dcstamp	UTSW	15	39,618,131 (GRCm39)	missense	possibly damaging	0.65
R6299:Dcstamp	UTSW	15	39,618,599 (GRCm39)	missense	probably damaging	1.00
R6377:Dcstamp	UTSW	15	39,618,317 (GRCm39)	missense	probably benign	0.01
R6566:Dcstamp	UTSW	15	39,617,732 (GRCm39)	missense	possibly damaging	0.54
R6596:Dcstamp	UTSW	15	39,617,605 (GRCm39)	missense	possibly damaging	0.95
R6869:Dcstamp	UTSW	15	39,617,854 (GRCm39)	missense	probably damaging	1.00
R7030:Dcstamp	UTSW	15	39,622,929 (GRCm39)	missense	probably damaging	0.96
R8178:Dcstamp	UTSW	15	39,618,422 (GRCm39)	missense	probably damaging	1.00
R8821:Dcstamp	UTSW	15	39,618,185 (GRCm39)	missense	probably benign	0.14
R9473:Dcstamp	UTSW	15	39,617,972 (GRCm39)	missense	probably damaging	1.00
R9651:Dcstamp	UTSW	15	39,623,792 (GRCm39)	missense	probably benign	0.30
R9652:Dcstamp	UTSW	15	39,623,792 (GRCm39)	missense	probably benign	0.30
R9653:Dcstamp	UTSW	15	39,623,792 (GRCm39)	missense	probably benign	0.30
Z1177:Dcstamp	UTSW	15	39,622,992 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGAAGGAAATGGCACTTAATAAATCTT -3'
(R):5'- CTGAAACTATTTACCTAGGGGCT -3'

Sequencing Primer
(F):5'- AATGTCTCCTCAAGGATGCATGG -3'
(R):5'- AACTATTTACCTAGGGGCTATTTGGC -3'

Posted On

2020-09-15