Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:Adamdec1'

377898

Institutional Source

Beutler Lab

Gene Symbol

Adamdec1

Ensembl Gene

ENSMUSG00000022057

Gene Name

ADAM-like, decysin 1

Synonyms

Dcsn, 2210414L24Rik

MMRRC Submission

042505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68800829-68819535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68809215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 249 (N249S)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

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

AlphaFold

Q9R0X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022641
AA Change: N249S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: N249S

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

0.5643

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,408 (GRCm39)		noncoding transcript	Het
Asxl1	T	A	2: 153,241,751 (GRCm39)	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,271 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,684,501 (GRCm39)	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,668,248 (GRCm39)	C356R	probably damaging	Het
Chtf8	C	T	8: 107,612,424 (GRCm39)	G172R	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dact2	T	A	17: 14,416,991 (GRCm39)	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,662,036 (GRCm39)	L674V	possibly damaging	Het
Dlc1	A	G	8: 37,044,285 (GRCm39)	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,329,935 (GRCm39)	S3260T	probably benign	Het
Eef1a2	T	A	2: 180,789,881 (GRCm39)	D428V	probably benign	Het
Ehd1	T	C	19: 6,344,273 (GRCm39)	F178L	possibly damaging	Het
Eif4a3l1	T	G	6: 136,306,262 (GRCm39)	V241G	probably benign	Het
F2	A	T	2: 91,465,316 (GRCm39)		probably benign	Het
Fam186a	T	C	15: 99,844,723 (GRCm39)	D507G	unknown	Het
Fbxo11	G	A	17: 88,372,702 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,419,168 (GRCm39)	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512 (GRCm39)	D442G	probably damaging	Het
Gemin5	A	G	11: 58,055,103 (GRCm39)	I214T	probably benign	Het
Gfra2	A	G	14: 71,204,455 (GRCm39)	N175S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Jhy	C	T	9: 40,808,821 (GRCm39)		probably benign	Het
Krtap5-5	A	T	7: 141,783,156 (GRCm39)	C165S	unknown	Het
Lce1k	T	A	3: 92,714,134 (GRCm39)	T17S	unknown	Het
Map3k1	C	T	13: 111,909,146 (GRCm39)	R268Q	probably damaging	Het
Med13l	T	A	5: 118,883,195 (GRCm39)	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,995 (GRCm39)	V876A	probably damaging	Het
Mical2	T	C	7: 111,936,107 (GRCm39)	S903P	probably benign	Het
Mkks	A	G	2: 136,718,094 (GRCm39)	V396A	probably benign	Het
Mvk	T	C	5: 114,594,060 (GRCm39)	V305A	probably benign	Het
Myo5a	A	G	9: 75,081,360 (GRCm39)	T982A	probably benign	Het
N4bp1	A	G	8: 87,588,311 (GRCm39)	V209A	probably benign	Het
Nfkbib	G	T	7: 28,461,173 (GRCm39)	S158*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Ogfr	A	G	2: 180,235,518 (GRCm39)		probably benign	Het
Or10a3	G	A	7: 108,480,624 (GRCm39)	T63I	probably benign	Het
Or2t43	G	A	11: 58,457,451 (GRCm39)	S240F	possibly damaging	Het
Or8s8	T	C	15: 98,354,796 (GRCm39)	S202P	probably damaging	Het
Pcdhga8	T	A	18: 37,948,978 (GRCm39)	D131E	probably damaging	Het
Plch1	A	G	3: 63,648,264 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,066,451 (GRCm39)	V214A	probably damaging	Het
Prr5l	A	G	2: 101,628,027 (GRCm39)		probably benign	Het
Prss35	A	G	9: 86,638,175 (GRCm39)	Q315R	probably damaging	Het
Psg29	G	T	7: 16,945,837 (GRCm39)	*469L	probably null	Het
Psmd4	A	G	3: 94,943,170 (GRCm39)	V78A	probably damaging	Het
Rad9a	C	A	19: 4,251,552 (GRCm39)		probably benign	Het
Rfx7	G	T	9: 72,524,573 (GRCm39)	V588F	probably benign	Het
Rnase13	A	C	14: 52,160,052 (GRCm39)	I29S	probably benign	Het
Steap2	T	C	5: 5,725,866 (GRCm39)	N386S	possibly damaging	Het
Ston1	A	G	17: 88,952,680 (GRCm39)	E719G	probably damaging	Het
Stx4a	A	G	7: 127,441,934 (GRCm39)		probably null	Het
Tekt2	A	G	4: 126,217,263 (GRCm39)	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,007,782 (GRCm39)	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,637,017 (GRCm39)	I38T	probably damaging	Het
Ubr2	A	G	17: 47,296,922 (GRCm39)	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,159 (GRCm39)	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,220 (GRCm39)	F839L	probably benign	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wtip	A	T	7: 33,818,437 (GRCm39)		probably null	Het
Yeats2	G	A	16: 20,026,418 (GRCm39)	G765S	probably benign	Het
Zbtb3	T	C	19: 8,781,331 (GRCm39)	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,045,030 (GRCm39)	M259V	probably benign	Het
Zfp120	A	G	2: 149,961,440 (GRCm39)		probably benign	Het
Zfp236	A	T	18: 82,627,543 (GRCm39)	I1552N	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
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
R9133:Adamdec1	UTSW	14	68,814,547 (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'- TTCAGTGCACTTGTTGACCACAA -3'
(R):5'- TGACTGAGTAGATTTTAACTATGTTCC -3'

Sequencing Primer
(F):5'- TGTTGACCACAAGTGATAGATAAAG -3'
(R):5'- ATTCTGTACCCGTAAGCC -3'

Posted On

2016-04-15