Mutagenetix > Incidental Mutation

Incidental Mutation 'R7580:Adamdec1'

586711

Institutional Source

Beutler Lab

Gene Symbol

Adamdec1

Ensembl Gene

ENSMUSG00000022057

Gene Name

ADAM-like, decysin 1

Synonyms

2210414L24Rik, Dcsn

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68563380-68582095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68565531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 462 (S462P)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

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

AlphaFold

Q9R0X2

Predicted Effect

probably benign
Transcript: ENSMUST00000022641
AA Change: S462P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: S462P

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,845,226	Y213F	probably damaging	Het
Adamtsl1	T	A	4: 86,054,064	C3S	possibly damaging	Het
Bag1	C	T	4: 40,947,836	E123K	probably benign	Het
Brip1	A	G	11: 86,157,601	L305P	probably damaging	Het
Cage1	T	A	13: 38,022,724	I382F	possibly damaging	Het
Cfap52	T	A	11: 67,946,320	K205I	probably damaging	Het
Cmtr2	T	A	8: 110,221,677	N206K	probably damaging	Het
Defb34	G	A	8: 19,126,410	C39Y	possibly damaging	Het
Dennd3	T	C	15: 73,556,447	S881P	possibly damaging	Het
Dglucy	C	T	12: 100,850,164	A325V	probably benign	Het
Dnah8	A	G	17: 30,775,103	E3398G	probably damaging	Het
Dsc2	A	T	18: 20,050,073	I96K	probably damaging	Het
Endov	C	T	11: 119,499,866		probably benign	Het
Fam208a	A	G	14: 27,466,286	I896M	probably benign	Het
Fam208b	G	A	13: 3,574,752	P1733S	probably damaging	Het
Fer1l6	A	T	15: 58,558,396	Q224L	probably benign	Het
Fmo2	T	C	1: 162,877,044	N431S	possibly damaging	Het
Gata3	A	C	2: 9,863,132	V337G	probably damaging	Het
Gm15448	A	T	7: 3,824,612	F182Y	unknown	Het
Gtse1	G	A	15: 85,862,231	V83M	probably damaging	Het
Hgd	C	A	16: 37,618,879	P224H	possibly damaging	Het
Kcnh6	T	C	11: 106,017,548	V330A	probably damaging	Het
Kiz	C	G	2: 146,956,249	I631M	probably damaging	Het
Klhl18	T	C	9: 110,436,050	D366G	probably benign	Het
Lrmda	C	T	14: 22,019,857		probably benign	Het
Mc1r	G	T	8: 123,408,167	A220S	probably damaging	Het
Megf6	T	A	4: 154,270,744	C1505*	probably null	Het
Mmp20	C	T	9: 7,654,143	R355*	probably null	Het
Mmp28	T	A	11: 83,444,832	Q280L	probably damaging	Het
Mppe1	C	T	18: 67,237,417	A70T	probably damaging	Het
Mtif3	T	G	5: 146,958,947	D110A	possibly damaging	Het
Mtss1l	G	A	8: 110,737,636	R361H	possibly damaging	Het
Mvp	T	C	7: 126,992,311	D542G	probably damaging	Het
Nlrp5	T	C	7: 23,433,749	C940R	probably damaging	Het
Nmur2	C	T	11: 56,026,982	V394I	probably benign	Het
Nwd2	A	G	5: 63,808,281	H1736R	probably benign	Het
Olfr135	T	C	17: 38,209,043	I266T	probably benign	Het
Purg	A	G	8: 33,416,633	Y317C	possibly damaging	Het
Ralgapa1	T	A	12: 55,718,228	M880L	probably benign	Het
Rap1gap	T	C	4: 137,719,982	F413L	possibly damaging	Het
Sart3	A	T	5: 113,754,379		probably null	Het
Scaf4	G	A	16: 90,229,852	Q1026*	probably null	Het
Slc26a1	A	G	5: 108,671,869	L504P	probably damaging	Het
Slc35d1	C	A	4: 103,208,133	V184L		Het
Slc5a11	C	T	7: 123,265,198	A339V	probably damaging	Het
Stab2	A	T	10: 86,869,164	M1780K	probably benign	Het
Tas1r2	G	A	4: 139,659,745	D172N	probably benign	Het
Thoc1	A	T	18: 9,986,343	K358N	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Ttll8	A	C	15: 88,933,929	L181R	probably damaging	Het
Ubl4b	G	A	3: 107,554,468	Q159*	probably null	Het
Xrn1	A	G	9: 96,011,679	H967R	not run	Het
Zeb2	T	C	2: 44,994,532	D1049G	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
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
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'- TTTTAGCACAAGTTCCAGGAAC -3'
(R):5'- GGATGGCTCCACACTTAGTTATATA -3'

Sequencing Primer
(F):5'- TCAAGCACATAGCCTCAG -3'
(R):5'- CATGTGGAGCAAACTTGTCTC -3'

Posted On

2019-10-24