Mutagenetix > Incidental Mutation

Incidental Mutation 'R5558:Dcstamp'

436427

Institutional Source

Beutler Lab

Gene Symbol

Dcstamp

Ensembl Gene

ENSMUSG00000022303

Gene Name

dendrocyte expressed seven transmembrane protein

Synonyms

4833414I07Rik, Tm7sf4, DC-STAMP

MMRRC Submission

043115-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.467) question?

Stock #

R5558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39609326-39624334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39622936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 419 (Y419C)

Ref Sequence

ENSEMBL: ENSMUSP00000022913 (fasta)

Gene Model

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

AlphaFold

Q7TNJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022913
AA Change: Y419C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: Y419C

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 damaging
Transcript: ENSMUST00000227368
AA Change: Y363C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227792
AA Change: Y363C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000228556

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,192,705 (GRCm39)	K177E	probably damaging	Het
Acvr1	T	C	2: 58,349,029 (GRCm39)	T378A	probably damaging	Het
Agtpbp1	A	G	13: 59,630,394 (GRCm39)	V779A	probably benign	Het
Alms1	C	T	6: 85,618,311 (GRCm39)	Q2786*	probably null	Het
Arhgef28	A	C	13: 98,097,968 (GRCm39)	L882R	probably damaging	Het
Cbx2	A	G	11: 118,919,775 (GRCm39)	T447A	probably benign	Het
Ch25h	A	G	19: 34,451,863 (GRCm39)	W222R	probably damaging	Het
Chsy3	T	G	18: 59,309,469 (GRCm39)	S241A	probably damaging	Het
Cyfip1	T	C	7: 55,541,749 (GRCm39)	S345P	possibly damaging	Het
Cyp4a30b	C	A	4: 115,316,063 (GRCm39)	D291E	probably damaging	Het
Eif3d	G	A	15: 77,846,047 (GRCm39)	R359C	probably damaging	Het
Elavl4	C	A	4: 110,063,800 (GRCm39)	G267V	probably benign	Het
Gars1	T	C	6: 55,042,592 (GRCm39)	S442P	probably damaging	Het
Gas6	C	T	8: 13,516,764 (GRCm39)	R578Q	probably null	Het
H4c4	C	A	13: 23,765,779 (GRCm39)	N65K	possibly damaging	Het
Ifitm6	T	C	7: 140,595,985 (GRCm39)	I103V	probably benign	Het
Igsf5	T	A	16: 96,187,731 (GRCm39)	I241N	possibly damaging	Het
Iqce	A	G	5: 140,657,560 (GRCm39)		probably null	Het
Khdc4	A	C	3: 88,600,403 (GRCm39)	H164P	probably damaging	Het
Kif20b	C	A	19: 34,928,949 (GRCm39)	Q1192K	probably damaging	Het
Lap3	A	G	5: 45,662,093 (GRCm39)	N298D	probably benign	Het
Lca5	A	T	9: 83,283,796 (GRCm39)	S246T	probably damaging	Het
Mrps5	G	A	2: 127,444,355 (GRCm39)	G330S	probably damaging	Het
Myh15	C	T	16: 48,889,900 (GRCm39)	R164C	probably benign	Het
Myo19	C	G	11: 84,801,274 (GRCm39)	P940R	probably damaging	Het
Or10j7	T	C	1: 173,011,585 (GRCm39)	R139G	probably benign	Het
Or5b12b	T	C	19: 12,861,751 (GRCm39)	F169L	probably benign	Het
Pcdh10	A	G	3: 45,338,603 (GRCm39)	D920G	probably damaging	Het
Pgm5	A	T	19: 24,801,815 (GRCm39)		probably null	Het
Phactr4	T	C	4: 132,105,766 (GRCm39)	E137G	probably damaging	Het
Pkn1	C	T	8: 84,411,351 (GRCm39)	V239M	probably damaging	Het
Plcz1	T	A	6: 139,985,481 (GRCm39)	D20V	probably damaging	Het
Prkca	A	T	11: 107,872,473 (GRCm39)	I429N	probably damaging	Het
Ptk2	A	T	15: 73,176,294 (GRCm39)	Y251N	probably damaging	Het
R3hdm2	T	C	10: 127,280,271 (GRCm39)	F31S	probably damaging	Het
Rab11fip1	T	A	8: 27,642,003 (GRCm39)	E932V	probably damaging	Het
Rilp	A	G	11: 75,402,251 (GRCm39)	Y250C	probably damaging	Het
Sclt1	A	G	3: 41,616,025 (GRCm39)	I474T	probably benign	Het
Slc14a2	T	A	18: 78,202,381 (GRCm39)	D583V	possibly damaging	Het
Slc30a4	A	G	2: 122,528,903 (GRCm39)	I324T	probably damaging	Het
Slc6a5	G	A	7: 49,577,321 (GRCm39)	V326I	probably benign	Het
Slco1c1	C	T	6: 141,513,222 (GRCm39)	T617I	probably damaging	Het
Sntg1	A	G	1: 8,484,495 (GRCm39)	S442P	possibly damaging	Het
Sys1	G	T	2: 164,306,429 (GRCm39)	A128S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmed5	A	G	5: 108,272,462 (GRCm39)	I212T	probably benign	Het
Tnks	T	C	8: 35,432,819 (GRCm39)	M1V	probably null	Het
Trpa1	T	C	1: 14,968,492 (GRCm39)	H452R	probably damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Ttn	T	A	2: 76,555,395 (GRCm39)	I30537F	probably damaging	Het
Ush2a	T	C	1: 188,530,024 (GRCm39)	V3271A	possibly damaging	Het
Utp20	C	G	10: 88,587,329 (GRCm39)	G2489R	probably damaging	Het
Vmn1r70	A	T	7: 10,368,402 (GRCm39)	S278C	probably benign	Het
Wdpcp	G	A	11: 21,661,732 (GRCm39)	A335T	probably benign	Het
Zc3h18	G	T	8: 123,113,659 (GRCm39)	R217L	probably damaging	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp955b	C	T	17: 33,521,161 (GRCm39)	T210I	possibly 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
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
R7945:Dcstamp	UTSW	15	39,623,797 (GRCm39)	makesense	probably null
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'- AGGAGTCGTCCATGATTCTGC -3'
(R):5'- GAGCTCCTAATGTAAAGTTGTGG -3'

Sequencing Primer
(F):5'- ATCTATGTTTGAACCGAGCTGC -3'
(R):5'- CTCCTAATGTAAAGTTGTGGAGTGC -3'

Posted On

2016-10-24