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

Dcsn, 2210414L24Rik

MMRRC Submission

068930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68800829-68819535 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 68814547 bp (GRCm39)

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: 13,159,176 (GRCm39)	R4S	probably benign	Het
Adck5	A	G	15: 76,460,612 (GRCm39)		probably benign	Het
Aebp2	A	G	6: 140,579,441 (GRCm39)	D226G	probably damaging	Het
Ascc3	A	G	10: 50,630,175 (GRCm39)	I1755V	possibly damaging	Het
Aspm	C	T	1: 139,419,266 (GRCm39)	T2977M	probably damaging	Het
Cacna1a	A	G	8: 85,276,152 (GRCm39)	S582G	probably damaging	Het
Card14	T	C	11: 119,231,835 (GRCm39)	F801S	probably damaging	Het
Casp16	T	A	17: 23,771,003 (GRCm39)	D134V	probably damaging	Het
Cmya5	A	G	13: 93,234,108 (GRCm39)	S327P	possibly damaging	Het
Cutc	A	T	19: 43,755,727 (GRCm39)	D229V	possibly damaging	Het
Cyp21a1	C	A	17: 35,023,419 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,859,423 (GRCm39)	K2130R	probably damaging	Het
Dsc1	C	T	18: 20,234,904 (GRCm39)	S250N	probably benign	Het
Edc4	T	C	8: 106,611,778 (GRCm39)		probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehmt1	A	T	2: 24,729,635 (GRCm39)	I642K	possibly damaging	Het
Gjd2	T	C	2: 113,842,039 (GRCm39)	Q146R	probably benign	Het
Gm26661	A	G	14: 7,791,936 (GRCm38)	H117R	unknown	Het
H2-Oa	T	A	17: 34,313,505 (GRCm39)	D185E	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hyal6	A	G	6: 24,734,585 (GRCm39)	R173G	possibly damaging	Het
Ica1	A	T	6: 8,659,921 (GRCm39)	V125D	probably benign	Het
Ift172	T	C	5: 31,442,867 (GRCm39)	T140A	probably benign	Het
Ighv9-4	T	A	12: 114,263,883 (GRCm39)	I17F	probably benign	Het
Igkv4-92	G	T	6: 68,732,248 (GRCm39)	T42N	probably damaging	Het
Kctd16	C	A	18: 40,392,069 (GRCm39)	P219Q	probably damaging	Het
Kdm5b	A	T	1: 134,530,323 (GRCm39)	I445F	probably benign	Het
Ksr2	A	G	5: 117,841,319 (GRCm39)	T598A	probably benign	Het
Lrrn1	C	T	6: 107,544,568 (GRCm39)	T122I	probably damaging	Het
Mars2	A	G	1: 55,276,721 (GRCm39)	D108G	possibly damaging	Het
Ms4a14	A	G	19: 11,281,038 (GRCm39)	W507R		Het
Ncoa3	A	G	2: 165,910,381 (GRCm39)	T1266A	possibly damaging	Het
Neb	T	C	2: 52,083,256 (GRCm39)	K5650E	possibly damaging	Het
Nlrp4f	T	A	13: 65,332,883 (GRCm39)	K92*	probably null	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Nova1	G	T	12: 46,865,524 (GRCm39)	A4E	unknown	Het
Nphs1	G	T	7: 30,160,092 (GRCm39)	E124*	probably null	Het
Or10d4	T	A	9: 39,580,974 (GRCm39)	I207N	possibly damaging	Het
Or10d4b	T	A	9: 39,534,809 (GRCm39)	L128*	probably null	Het
Or5d14	T	C	2: 87,880,782 (GRCm39)	Y62C	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Ranbp2	T	C	10: 58,313,050 (GRCm39)	S1257P	probably damaging	Het
Ranbp3	T	C	17: 57,003,791 (GRCm39)		probably null	Het
Rasgrf1	A	G	9: 89,793,600 (GRCm39)	T126A	probably benign	Het
Rexo5	T	G	7: 119,444,667 (GRCm39)	L714R	probably damaging	Het
Rhobtb3	A	G	13: 76,020,512 (GRCm39)	Y597H	probably damaging	Het
Riox1	C	G	12: 83,998,221 (GRCm39)	Y252*	probably null	Het
Sh2d3c	T	C	2: 32,634,778 (GRCm39)	Y186H	possibly damaging	Het
Slc16a7	T	A	10: 125,066,536 (GRCm39)	T368S	probably benign	Het
Slc25a26	G	A	6: 94,511,143 (GRCm39)	V107I		Het
Slc4a5	A	T	6: 83,203,217 (GRCm39)	Y39F	possibly damaging	Het
Smarcad1	A	G	6: 65,049,035 (GRCm39)	K254E	probably damaging	Het
Sspo	G	T	6: 48,434,747 (GRCm39)	V1080L	possibly damaging	Het
Thsd7b	A	T	1: 129,843,382 (GRCm39)	T865S	probably benign	Het
Top1	C	T	2: 160,545,591 (GRCm39)	Q320*	probably null	Het
Trank1	T	A	9: 111,220,770 (GRCm39)	N2502K	possibly damaging	Het
Urad	T	C	5: 147,252,251 (GRCm39)	H67R	probably damaging	Het
Vamp5	A	C	6: 72,357,362 (GRCm39)		probably null	Het
Vmn1r62	A	G	7: 5,679,062 (GRCm39)	I248V	probably benign	Het
Wwc2	G	T	8: 48,305,007 (GRCm39)	Q873K	unknown	Het
Zcchc2	C	A	1: 105,958,535 (GRCm39)	S1002Y	probably damaging	Het
Zdhhc14	G	A	17: 5,803,283 (GRCm39)	R462H	probably benign	Het
Zfp788	A	G	7: 41,299,484 (GRCm39)	N707D		Het
Zfp964	A	G	8: 70,115,783 (GRCm39)	T128A	probably benign	Het
Zkscan16	T	C	4: 58,957,722 (GRCm39)	L668S	possibly damaging	Het

Other mutations in Adamdec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Adamdec1	APN	14	68,810,556 (GRCm39)	missense	probably damaging	1.00
IGL02026:Adamdec1	APN	14	68,809,251 (GRCm39)	missense	possibly damaging	0.81
IGL02068:Adamdec1	APN	14	68,814,558 (GRCm39)	missense	probably benign	0.21
IGL02416:Adamdec1	APN	14	68,810,282 (GRCm39)	missense	probably null	0.99
IGL02739:Adamdec1	APN	14	68,807,605 (GRCm39)	nonsense	probably null
IGL03078:Adamdec1	APN	14	68,806,299 (GRCm39)	missense	possibly damaging	0.53
IGL03115:Adamdec1	APN	14	68,808,802 (GRCm39)	missense	probably damaging	1.00
R0201:Adamdec1	UTSW	14	68,819,406 (GRCm39)	critical splice donor site	probably null
R0243:Adamdec1	UTSW	14	68,819,407 (GRCm39)	critical splice donor site	probably null
R0244:Adamdec1	UTSW	14	68,806,172 (GRCm39)	nonsense	probably null
R0416:Adamdec1	UTSW	14	68,806,161 (GRCm39)	missense	possibly damaging	0.79
R1373:Adamdec1	UTSW	14	68,808,400 (GRCm39)	missense	probably damaging	1.00
R1856:Adamdec1	UTSW	14	68,808,397 (GRCm39)	missense	probably damaging	1.00
R2570:Adamdec1	UTSW	14	68,816,657 (GRCm39)	missense	probably damaging	0.98
R3684:Adamdec1	UTSW	14	68,819,447 (GRCm39)	missense	probably benign	0.04
R3755:Adamdec1	UTSW	14	68,814,587 (GRCm39)	missense	probably damaging	1.00
R4450:Adamdec1	UTSW	14	68,810,568 (GRCm39)	missense	probably benign	0.00
R4661:Adamdec1	UTSW	14	68,807,562 (GRCm39)	missense	probably damaging	1.00
R4672:Adamdec1	UTSW	14	68,815,353 (GRCm39)	nonsense	probably null
R4673:Adamdec1	UTSW	14	68,815,353 (GRCm39)	nonsense	probably null
R4902:Adamdec1	UTSW	14	68,809,215 (GRCm39)	missense	probably damaging	0.99
R5017:Adamdec1	UTSW	14	68,810,694 (GRCm39)	missense	probably benign	0.01
R5018:Adamdec1	UTSW	14	68,809,228 (GRCm39)	missense	probably damaging	1.00
R5141:Adamdec1	UTSW	14	68,810,577 (GRCm39)	missense	probably benign	0.00
R5329:Adamdec1	UTSW	14	68,807,612 (GRCm39)	missense	probably damaging	1.00
R5395:Adamdec1	UTSW	14	68,808,352 (GRCm39)	missense	probably benign	0.04
R5864:Adamdec1	UTSW	14	68,807,551 (GRCm39)	missense	probably damaging	1.00
R6032:Adamdec1	UTSW	14	68,816,633 (GRCm39)	missense	probably damaging	1.00
R6032:Adamdec1	UTSW	14	68,816,633 (GRCm39)	missense	probably damaging	1.00
R6114:Adamdec1	UTSW	14	68,809,252 (GRCm39)	missense	probably benign	0.00
R6633:Adamdec1	UTSW	14	68,810,601 (GRCm39)	missense	probably benign	0.03
R7243:Adamdec1	UTSW	14	68,809,203 (GRCm39)	missense	probably benign	0.06
R7580:Adamdec1	UTSW	14	68,802,980 (GRCm39)	missense	probably benign	0.00
R8388:Adamdec1	UTSW	14	68,810,684 (GRCm39)	nonsense	probably null
X0025:Adamdec1	UTSW	14	68,807,607 (GRCm39)	missense	probably damaging	1.00
X0050:Adamdec1	UTSW	14	68,807,607 (GRCm39)	missense	probably damaging	1.00
X0062:Adamdec1	UTSW	14	68,810,701 (GRCm39)	missense	probably benign	0.12
Z1177:Adamdec1	UTSW	14	68,818,092 (GRCm39)	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