Mutagenetix > Incidental Mutation

Incidental Mutation 'R8388:Adamdec1'

647254

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 #

R8388 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68563380-68582095 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 68573235 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 157 (Y157*)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

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

AlphaFold

Q9R0X2

Predicted Effect

probably null
Transcript: ENSMUST00000022641
AA Change: Y157*

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: Y157*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,125,431	Y173N	probably damaging	Het
A2ml1	T	C	6: 128,571,974	T282A	probably benign	Het
Adgre5	A	G	8: 83,730,186	Y189H	probably damaging	Het
Alg11	G	A	8: 22,062,034	V65I	probably benign	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Camk2b	C	T	11: 5,989,026	V278M	probably damaging	Het
Ccdc57	G	A	11: 120,826,918	P950L	probably benign	Het
Cep68	A	T	11: 20,230,582	V683D	probably damaging	Het
Chd6	A	T	2: 161,019,651	I493N	probably damaging	Het
Cyfip1	A	G	7: 55,872,125	Y59C	probably damaging	Het
Dclk3	A	G	9: 111,482,745	E685G	probably damaging	Het
Edaradd	A	T	13: 12,483,603	S78T	probably benign	Het
Edc4	T	C	8: 105,887,507	V430A	probably damaging	Het
Efr3a	T	C	15: 65,866,822	S767P	probably benign	Het
Enkd1	T	C	8: 105,704,393	Q234R	probably damaging	Het
Ercc6	ACGGTACCG	ACGGTACCGGTACCG	14: 32,570,340		probably benign	Het
Hipk2	T	A	6: 38,745,695	Y468F	probably damaging	Het
Ifi207	GTT	GT	1: 173,729,450		probably null	Het
Kcna5	A	G	6: 126,534,625	V180A	probably benign	Het
Kcnb1	T	C	2: 167,105,297	I544V	probably benign	Het
Kif21a	A	G	15: 90,959,124	S1119P	possibly damaging	Het
Klk13	T	C	7: 43,723,811	C190R	probably damaging	Het
Mga	T	C	2: 119,964,081	S2749P	probably benign	Het
Mpeg1	T	C	19: 12,462,914	S579P	probably damaging	Het
Msh3	A	T	13: 92,223,276	I903K	probably damaging	Het
Olfr1191-ps1	T	A	2: 88,642,961	S65T	probably damaging	Het
Ptx4	T	C	17: 25,120,923	S25P	probably damaging	Het
Sipa1l1	G	T	12: 82,169,485		probably benign	Het
Slfn9	G	C	11: 82,987,286	T339R	probably benign	Het
Srsf12	C	G	4: 33,226,070	P111R	probably damaging	Het
Tex15	A	G	8: 33,575,209	I1556V	probably benign	Het
Ttc14	A	G	3: 33,800,586	N21D	probably benign	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
R7580:Adamdec1	UTSW	14	68565531	missense	probably benign	0.00
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'- CTCACAATGATTCAGGTGCTTAC -3'
(R):5'- TGGATGTAACTTGAATAGCAGAGTC -3'

Sequencing Primer
(F):5'- ATGTGTCTCAGATCCTTGCTTAGAC -3'
(R):5'- GCAGAGTCTTTGACTGAAAACTC -3'

Posted On

2020-09-02