Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02739:Adamdec1'

305821

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamdec1

Ensembl Gene

ENSMUSG00000022057

Gene Name

ADAM-like, decysin 1

Synonyms

2210414L24Rik, Dcsn

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

68563380-68582095 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 68570156 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 352 (E352*)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000022641
AA Change: E352*

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: E352*

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,878,517	C887S	possibly damaging	Het
Bglap2	A	T	3: 88,378,012		probably null	Het
Bsn	A	T	9: 108,112,546	H2002Q	probably benign	Het
Chtop	T	A	3: 90,502,250	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,286,780		probably null	Het
Ctsr	T	C	13: 61,161,844	T184A	probably benign	Het
Defb36	T	C	2: 152,604,519	L11P	unknown	Het
Dock8	A	G	19: 25,188,488	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,923,728	Y106H	probably damaging	Het
Epas1	A	G	17: 86,805,282	T103A	probably damaging	Het
Epcam	A	T	17: 87,640,494	T131S	probably benign	Het
Fam169a	A	G	13: 97,094,055		probably benign	Het
Gh	T	A	11: 106,301,733		probably benign	Het
Kif20a	A	T	18: 34,628,943	K399*	probably null	Het
Lrp1b	A	G	2: 41,498,215	I466T	probably damaging	Het
Nlk	A	G	11: 78,574,851	V409A	probably benign	Het
Nomo1	A	G	7: 46,044,307		probably null	Het
Nr2c1	T	A	10: 94,156,972	M16K	probably damaging	Het
Nxph2	A	T	2: 23,399,900	Q88L	probably benign	Het
Olfr33	A	G	7: 102,714,314	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,819,694	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,540,950	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,760,509		probably null	Het
Ppp1r42	T	A	1: 9,968,853	K347N	probably benign	Het
Prtg	T	C	9: 72,851,585	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,200,754	S194*	probably null	Het
Rnf214	T	C	9: 45,869,474	I406V	probably benign	Het
Rreb1	C	T	13: 37,893,821	S3L	probably damaging	Het
Sdad1	C	T	5: 92,290,072	A539T	probably benign	Het
Sema3a	A	G	5: 13,451,161	Y57C	probably damaging	Het
Susd5	A	G	9: 114,096,033	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,686,398	T175A	probably damaging	Het
Tcf20	T	A	15: 82,856,080	Q390L	probably damaging	Het
Tex15	A	G	8: 33,581,693	T2423A	possibly damaging	Het
Tlr1	T	C	5: 64,927,126	N36S	probably benign	Het
Uchl4	C	T	9: 64,235,537	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,305,129	K11R	probably benign	Het
Vps13b	T	A	15: 35,879,900	D3040E	probably damaging	Het
Wdr62	A	T	7: 30,242,460	Y640*	probably null	Het
Zkscan17	T	G	11: 59,503,526	E83A	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
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
R5395:Adamdec1	UTSW	14	68570903	missense	probably benign	0.04
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
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

Posted On

2015-04-16