Mutagenetix > Incidental Mutation

Incidental Mutation 'R9133:Adamdec1'

693802

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 #

R9133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68563380-68582095 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 68577098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 143 (C143*)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

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

AlphaFold

Q9R0X2

Predicted Effect

probably null
Transcript: ENSMUST00000022641
AA Change: C143*

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: C143*

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	T	A	17: 12,940,289	R4S	probably benign	Het
Adck5	A	G	15: 76,576,412		probably benign	Het
Aebp2	A	G	6: 140,633,715	D226G	probably damaging	Het
Ascc3	A	G	10: 50,754,079	I1755V	possibly damaging	Het
Aspm	C	T	1: 139,491,528	T2977M	probably damaging	Het
Cacna1a	A	G	8: 84,549,523	S582G	probably damaging	Het
Card14	T	C	11: 119,341,009	F801S	probably damaging	Het
Casp16-ps	T	A	17: 23,552,029	D134V	probably damaging	Het
Cmya5	A	G	13: 93,097,600	S327P	possibly damaging	Het
Cutc	A	T	19: 43,767,288	D229V	possibly damaging	Het
Cyp21a1	C	A	17: 34,804,445		probably benign	Het
Dnah10	A	G	5: 124,782,359	K2130R	probably damaging	Het
Dsc1	C	T	18: 20,101,847	S250N	probably benign	Het
Edc4	T	C	8: 105,885,146		probably null	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Ehmt1	A	T	2: 24,839,623	I642K	possibly damaging	Het
Gjd2	T	C	2: 114,011,558	Q146R	probably benign	Het
Gm26661	A	G	14: 7,791,936	H117R	unknown	Het
H2-Oa	T	A	17: 34,094,531	D185E	probably damaging	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hyal6	A	G	6: 24,734,586	R173G	possibly damaging	Het
Ica1	A	T	6: 8,659,921	V125D	probably benign	Het
Ift172	T	C	5: 31,285,523	T140A	probably benign	Het
Ighv9-4	T	A	12: 114,300,263	I17F	probably benign	Het
Igkv4-92	G	T	6: 68,755,264	T42N	probably damaging	Het
Kctd16	C	A	18: 40,259,016	P219Q	probably damaging	Het
Kdm5b	A	T	1: 134,602,585	I445F	probably benign	Het
Ksr2	A	G	5: 117,703,254	T598A	probably benign	Het
Lrrn1	C	T	6: 107,567,607	T122I	probably damaging	Het
Mars2	A	G	1: 55,237,562	D108G	possibly damaging	Het
Ms4a14	A	G	19: 11,303,674	W507R		Het
Ncoa3	A	G	2: 166,068,461	T1266A	possibly damaging	Het
Neb	T	C	2: 52,193,244	K5650E	possibly damaging	Het
Nlrp4f	T	A	13: 65,185,069	K92*	probably null	Het
Nme4	G	T	17: 26,095,415	A13E	probably benign	Het
Nova1	G	T	12: 46,818,741	A4E	unknown	Het
Nphs1	G	T	7: 30,460,667	E124*	probably null	Het
Olfr1162	T	C	2: 88,050,438	Y62C	probably damaging	Het
Olfr960	T	A	9: 39,623,513	L128*	probably null	Het
Olfr963	T	A	9: 39,669,678	I207N	possibly damaging	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,709,168		probably benign	Het
Ranbp2	T	C	10: 58,477,228	S1257P	probably damaging	Het
Ranbp3	T	C	17: 56,696,791		probably null	Het
Rasgrf1	A	G	9: 89,911,547	T126A	probably benign	Het
Rexo5	T	G	7: 119,845,444	L714R	probably damaging	Het
Rhobtb3	A	G	13: 75,872,393	Y597H	probably damaging	Het
Riox1	C	G	12: 83,951,447	Y252*	probably null	Het
Sh2d3c	T	C	2: 32,744,766	Y186H	possibly damaging	Het
Slc16a7	T	A	10: 125,230,667	T368S	probably benign	Het
Slc25a26	G	A	6: 94,534,162	V107I		Het
Slc4a5	A	T	6: 83,226,235	Y39F	possibly damaging	Het
Smarcad1	A	G	6: 65,072,051	K254E	probably damaging	Het
Sspo	G	T	6: 48,457,813	V1080L	possibly damaging	Het
Thsd7b	A	T	1: 129,915,645	T865S	probably benign	Het
Top1	C	T	2: 160,703,671	Q320*	probably null	Het
Trank1	T	A	9: 111,391,702	N2502K	possibly damaging	Het
Urad	T	C	5: 147,315,441	H67R	probably damaging	Het
Vamp5	A	C	6: 72,380,379		probably null	Het
Vmn1r62	A	G	7: 5,676,063	I248V	probably benign	Het
Wwc2	G	T	8: 47,851,972	Q873K	unknown	Het
Zcchc2	C	A	1: 106,030,805	S1002Y	probably damaging	Het
Zdhhc14	G	A	17: 5,753,008	R462H	probably benign	Het
Zfp788	A	G	7: 41,650,060	N707D		Het
Zfp964	A	G	8: 69,663,133	T128A	probably benign	Het
Zkscan16	T	C	4: 58,957,722	L668S	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
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

Predicted Primers

PCR Primer
(F):5'- GGCAGACTTTCCACAGTCAG -3'
(R):5'- GTGACCTATACACTCTCATTAATGGC -3'

Sequencing Primer
(F):5'- GACTTTCCACAGTCAGGATGTAGC -3'
(R):5'- AATGGCATGCCTCTTTGTATACATGC -3'

Posted On

2022-01-20