Mutagenetix > Incidental Mutation

Incidental Mutation 'R4661:Adamdec1'

352884

Institutional Source

Beutler Lab

Gene Symbol

Adamdec1

Ensembl Gene

ENSMUSG00000022057

Gene Name

ADAM-like, decysin 1

Synonyms

2210414L24Rik, Dcsn

MMRRC Submission

041600-MU

Accession Numbers

Essential gene?

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

Stock #

R4661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68563380-68582095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68570113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 366 (T366I)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

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

AlphaFold

Q9R0X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022641
AA Change: T366I

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

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: T366I

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: 97.5%
20x: 95.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,287,330	N42D	probably damaging	Het
Adamts7	C	A	9: 90,193,330	H1038Q	probably benign	Het
Aff3	T	C	1: 38,627,128	D5G	possibly damaging	Het
Amhr2	A	T	15: 102,454,253	D485V	probably damaging	Het
Arhgap35	A	T	7: 16,564,738	F134Y	probably damaging	Het
Asxl3	A	G	18: 22,516,477	T508A	probably benign	Het
Atp10a	TGGCGGCGGC	TGGCGGC	7: 58,658,500		probably benign	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Atp9a	A	G	2: 168,637,672	F928L	possibly damaging	Het
BC034090	A	T	1: 155,232,475	D13E	probably damaging	Het
Bco1	A	G	8: 117,129,241	E425G	probably benign	Het
Brsk1	T	C	7: 4,707,299	S436P	possibly damaging	Het
C1s1	T	C	6: 124,536,490	I193V	probably benign	Het
Calb2	A	G	8: 110,168,077	F21L	probably benign	Het
Catsperz	T	G	19: 6,924,803	T108P	probably benign	Het
Cep57l1	T	A	10: 41,719,771	D329V	possibly damaging	Het
Cfdp1	A	G	8: 111,830,945	F188S	probably benign	Het
Chrna2	G	A	14: 66,148,843	G146D	probably damaging	Het
Col6a1	A	C	10: 76,714,672	F520V	unknown	Het
Cyb5d2	C	A	11: 72,778,945	V43L	probably damaging	Het
Cyp2c40	T	C	19: 39,786,846	T321A	probably benign	Het
Dnajc16	A	C	4: 141,763,548	Y764D	probably damaging	Het
Dsg1a	G	A	18: 20,340,533	V888M	probably damaging	Het
F5	A	C	1: 164,184,920	T468P	probably damaging	Het
Faap24	A	G	7: 35,395,084	M97T	probably benign	Het
Fam227b	A	T	2: 126,007,310	I334N	probably damaging	Het
Frem2	G	T	3: 53,655,443	P548T	probably damaging	Het
Gfm1	A	G	3: 67,433,398	E94G	probably damaging	Het
Gm17606	A	T	14: 54,648,239		probably benign	Het
Gnb2	A	T	5: 137,530,253	M1K	probably null	Het
Gys1	G	A	7: 45,454,834	A544T	probably damaging	Het
Hdac5	T	C	11: 102,205,849	Y230C	probably damaging	Het
Hunk	A	T	16: 90,447,308		probably null	Het
Ifnl2	A	G	7: 28,510,210	F51L	probably damaging	Het
Itpr1	T	C	6: 108,410,931		probably null	Het
Kcnj1	A	G	9: 32,396,622	Y114C	probably benign	Het
Kdm4b	T	A	17: 56,399,459	S322T	probably damaging	Het
Kif27	T	C	13: 58,323,916	E786G	probably damaging	Het
Kif6	T	C	17: 49,753,881	V414A	probably benign	Het
L1td1	A	G	4: 98,733,624	K141R	possibly damaging	Het
Loxhd1	A	G	18: 77,402,885	I1394V	possibly damaging	Het
Lrfn5	A	T	12: 61,839,647	M74L	probably damaging	Het
Lrp6	C	T	6: 134,511,267	D289N	probably benign	Het
Mroh7	A	G	4: 106,691,513		probably null	Het
Muc4	A	C	16: 32,769,277	E2885A	possibly damaging	Het
Myo18b	G	T	5: 112,875,175		probably benign	Het
Ncln	G	A	10: 81,493,068	A172V	probably damaging	Het
Nek9	G	A	12: 85,320,892	T335M	possibly damaging	Het
Notch2	A	G	3: 98,135,513	Y1398C	probably damaging	Het
Olfr472	A	T	7: 107,902,981	H88L	probably benign	Het
Olfr710	T	A	7: 106,944,867	I45F	probably damaging	Het
Olfr981	A	T	9: 40,022,527	I45F	probably damaging	Het
Pax2	G	A	19: 44,760,937	V40M	probably damaging	Het
Pde6c	A	G	19: 38,169,439	Y637C	probably damaging	Het
Plppr5	A	G	3: 117,620,969	I80V	probably damaging	Het
Pold1	G	T	7: 44,532,809	P1100T	probably damaging	Het
Prune2	T	C	19: 17,000,023	Y41H	probably damaging	Het
Rgl2	C	T	17: 33,933,226	A329V	possibly damaging	Het
Rilp	T	A	11: 75,511,424	Y250N	probably damaging	Het
Rilpl1	A	G	5: 124,514,688	V19A	probably benign	Het
Rtp3	T	C	9: 110,986,451		probably null	Het
Rufy4	A	G	1: 74,133,107	K246E	probably damaging	Het
Saraf	C	A	8: 34,168,462	A306E	probably damaging	Het
Slc26a8	A	T	17: 28,638,684	N828K	probably benign	Het
Src	C	T	2: 157,469,932	P527S	probably damaging	Het
Susd3	C	T	13: 49,231,302		probably null	Het
Syngap1	T	C	17: 26,966,906	L1270P	probably damaging	Het
Taf1c	G	A	8: 119,598,850	P758S	probably damaging	Het
Tenm2	A	T	11: 36,024,448	N2087K	probably damaging	Het
Tfrc	A	T	16: 32,630,151	I703F	probably damaging	Het
Thap1	C	G	8: 26,160,846	T48S	probably benign	Het
Tspear	T	C	10: 77,866,329	F199L	probably benign	Het
Usp17lc	A	T	7: 103,418,590	H364L	probably benign	Het
Usp9x	A	G	X: 13,123,508	R776G	possibly damaging	Homo
Vmn1r1	T	C	1: 182,157,224	E292G	possibly damaging	Het
Vmn1r125	T	G	7: 21,272,627	V150G	probably damaging	Het
Vmn1r167	A	T	7: 23,504,692	L300I	probably damaging	Het
Vmn2r106	A	C	17: 20,267,623	I838S	probably benign	Het
Wdr64	A	T	1: 175,726,494	S197C	probably damaging	Het
Zfp248	A	T	6: 118,433,307	V47E	possibly 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
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
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'- ATGCATGAGTCTTGAATTTGGC -3'
(R):5'- CTTCATAGGAGCCAGTCATACCAG -3'

Sequencing Primer
(F):5'- CATGAGTCTTGAATTTGGCAAAATAC -3'
(R):5'- GGCTCTTGTTGCACTGA -3'

Posted On

2015-10-08