Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Adamdec1'

426154

Institutional Source

Beutler Lab

Gene Symbol

Adamdec1

Ensembl Gene

ENSMUSG00000022057

Gene Name

ADAM-like, decysin 1

Synonyms

2210414L24Rik, Dcsn

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68563380-68582095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 68570903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 333 (S333A)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022641]

AlphaFold

Q9R0X2

Predicted Effect

probably benign
Transcript: ENSMUST00000022641
AA Change: S333A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: S333A

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	37	175	3.9e-29	PFAM
Pfam:Reprolysin_5	215	389	9.8e-17	PFAM
Pfam:Reprolysin_4	216	407	7.3e-12	PFAM
Pfam:Reprolysin	217	411	1.5e-57	PFAM
Pfam:Reprolysin_3	242	360	1e-11	PFAM
DISIN	427	465	1.12e-3	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,080,941	I268V	probably benign	Het
Actn1	T	A	12: 80,170,703	I782F	probably benign	Het
Agbl5	C	A	5: 30,890,338	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,414,493		noncoding transcript	Het
Arhgef10l	T	C	4: 140,570,290	N277S	probably benign	Het
Ascc2	A	G	11: 4,659,273	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,420,888	Y835*	probably null	Het
Atp13a4	A	G	16: 29,456,604	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,825,249	S426P	probably damaging	Het
Birc3	T	C	9: 7,861,174	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,271,418	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,269,398	M91T	possibly damaging	Het
Clk3	G	A	9: 57,753,339	T473M	probably damaging	Het
Cog2	T	A	8: 124,545,221	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,669,853	T202I	probably benign	Het
Dennd1a	A	T	2: 37,802,128	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,598,720	A170D	possibly damaging	Het
Fev	T	C	1: 74,882,664		probably null	Het
Flnb	A	G	14: 7,883,881	N369S	probably benign	Het
Flt3	A	G	5: 147,354,823	F606L	probably damaging	Het
Gdf9	T	C	11: 53,433,797	V131A	probably benign	Het
Gdnf	T	A	15: 7,834,684	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,177,489	C56S	possibly damaging	Het
Gli3	T	C	13: 15,714,950	F550L	probably damaging	Het
Gm1110	T	C	9: 26,889,632	E422G	probably benign	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,528,526	S334P	probably damaging	Het
Icam2	A	T	11: 106,382,473		probably null	Het
Inca1	C	T	11: 70,690,438		probably null	Het
Itgb8	A	C	12: 119,170,741	C530W	probably damaging	Het
Lrp1	T	C	10: 127,595,297	D332G	probably damaging	Het
Ly75	A	T	2: 60,365,111	N234K	probably benign	Het
Mcm5	G	A	8: 75,123,026	S542N	probably benign	Het
Mcm9	A	T	10: 53,538,692	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,688,232	R986H	possibly damaging	Het
Neu2	T	A	1: 87,596,675		probably null	Het
Nfatc1	G	A	18: 80,636,020	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392		probably benign	Het
Olfr1406	A	T	1: 173,183,680	Y251*	probably null	Het
Otogl	T	C	10: 107,817,138	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,185,287	I111K	probably damaging	Het
Phkb	A	G	8: 86,017,468	D582G	probably damaging	Het
Piwil2	G	T	14: 70,395,397	N575K	probably benign	Het
Pou4f2	T	A	8: 78,435,072	I301F	probably damaging	Het
Prkd1	T	C	12: 50,391,432	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,715,117	K86T	probably damaging	Het
Raly	T	A	2: 154,864,007		probably null	Het
Rangap1	A	G	15: 81,706,446	F482L	probably benign	Het
Rapgef1	T	A	2: 29,737,965	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,935,160		probably null	Het
Sdr16c5	T	C	4: 4,016,277	S50G	probably benign	Het
Sin3a	G	A	9: 57,105,673	R612H	probably damaging	Het
Six6	T	A	12: 72,941,701	L216*	probably null	Het
Slc20a1	A	T	2: 129,208,337	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,211,375		probably null	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,733,277	G306*	probably null	Het
Slc9a8	T	A	2: 167,467,722	F335L	probably damaging	Het
Smyd1	T	G	6: 71,219,390	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,184	V187E	probably damaging	Het
Spag9	T	G	11: 94,091,751		probably null	Het
Tnfsf9	C	A	17: 57,105,592	T54K	probably benign	Het
Trim24	T	G	6: 37,957,744	V798G	probably damaging	Het
Tyr	C	A	7: 87,472,490	A365S	probably damaging	Het
Usp43	T	A	11: 67,897,358		probably null	Het
Vmn2r55	T	C	7: 12,651,947	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,750,897	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,755,598	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,772,501	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,783,846	C21*	probably null	Het
Zfp825	T	C	13: 74,480,546	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,558,213	V275D	probably damaging	Het

Other mutations in Adamdec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Adamdec1	APN	14	68573107	missense	probably damaging	1.00
IGL02026:Adamdec1	APN	14	68571802	missense	possibly damaging	0.81
IGL02068:Adamdec1	APN	14	68577109	missense	probably benign	0.21
IGL02416:Adamdec1	APN	14	68572833	missense	probably null	0.99
IGL02739:Adamdec1	APN	14	68570156	nonsense	probably null
IGL03078:Adamdec1	APN	14	68568850	missense	possibly damaging	0.53
IGL03115:Adamdec1	APN	14	68571353	missense	probably damaging	1.00
R0201:Adamdec1	UTSW	14	68581957	critical splice donor site	probably null
R0243:Adamdec1	UTSW	14	68581958	critical splice donor site	probably null
R0244:Adamdec1	UTSW	14	68568723	nonsense	probably null
R0416:Adamdec1	UTSW	14	68568712	missense	possibly damaging	0.79
R1373:Adamdec1	UTSW	14	68570951	missense	probably damaging	1.00
R1856:Adamdec1	UTSW	14	68570948	missense	probably damaging	1.00
R2570:Adamdec1	UTSW	14	68579208	missense	probably damaging	0.98
R3684:Adamdec1	UTSW	14	68581998	missense	probably benign	0.04
R3755:Adamdec1	UTSW	14	68577138	missense	probably damaging	1.00
R4450:Adamdec1	UTSW	14	68573119	missense	probably benign	0.00
R4661:Adamdec1	UTSW	14	68570113	missense	probably damaging	1.00
R4672:Adamdec1	UTSW	14	68577904	nonsense	probably null
R4673:Adamdec1	UTSW	14	68577904	nonsense	probably null
R4902:Adamdec1	UTSW	14	68571766	missense	probably damaging	0.99
R5017:Adamdec1	UTSW	14	68573245	missense	probably benign	0.01
R5018:Adamdec1	UTSW	14	68571779	missense	probably damaging	1.00
R5141:Adamdec1	UTSW	14	68573128	missense	probably benign	0.00
R5329:Adamdec1	UTSW	14	68570163	missense	probably damaging	1.00
R5864:Adamdec1	UTSW	14	68570102	missense	probably damaging	1.00
R6032:Adamdec1	UTSW	14	68579184	missense	probably damaging	1.00
R6032:Adamdec1	UTSW	14	68579184	missense	probably damaging	1.00
R6114:Adamdec1	UTSW	14	68571803	missense	probably benign	0.00
R6633:Adamdec1	UTSW	14	68573152	missense	probably benign	0.03
R7243:Adamdec1	UTSW	14	68571754	missense	probably benign	0.06
R7580:Adamdec1	UTSW	14	68565531	missense	probably benign	0.00
R8388:Adamdec1	UTSW	14	68573235	nonsense	probably null
R9133:Adamdec1	UTSW	14	68577098	nonsense	probably null
X0025:Adamdec1	UTSW	14	68570158	missense	probably damaging	1.00
X0050:Adamdec1	UTSW	14	68570158	missense	probably damaging	1.00
X0062:Adamdec1	UTSW	14	68573252	missense	probably benign	0.12
Z1177:Adamdec1	UTSW	14	68580643	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCAAGGACTCTTCAGAGC -3'
(R):5'- TATCCACCTGTAATTGTGAGGC -3'

Sequencing Primer
(F):5'- TCCAAGGACTCTTCAGAGCAATGTTC -3'
(R):5'- GGCTGTAATAAGATAGAAGCTTCCC -3'

Posted On

2016-08-04