Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:Adamdec1'

480469

Institutional Source

Beutler Lab

Gene Symbol

Adamdec1

Ensembl Gene

ENSMUSG00000022057

Gene Name

ADAM-like, decysin 1

Synonyms

Dcsn, 2210414L24Rik

MMRRC Submission

044204-MU

Accession Numbers

Essential gene?

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

Stock #

R6032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68800829-68819535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68816633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 85 (E85G)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

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

AlphaFold

Q9R0X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022641
AA Change: E85G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: E85G

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

0.3036

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.0%
20x: 85.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2ml1	T	A	6: 128,526,799 (GRCm39)	K1071*	probably null	Het
Abca13	G	T	11: 9,247,752 (GRCm39)	V2500F	possibly damaging	Het
Aldh8a1	T	C	10: 21,264,970 (GRCm39)	V199A	probably benign	Het
Aoc2	G	A	11: 101,216,627 (GRCm39)	V237M	probably damaging	Het
Aplp2	C	T	9: 31,062,240 (GRCm39)	R672H	probably damaging	Het
Apob	A	G	12: 8,045,513 (GRCm39)	N886S	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atp6v1a	T	C	16: 43,927,303 (GRCm39)	Y328C	probably damaging	Het
Bag4	T	C	8: 26,267,521 (GRCm39)	Y103C	probably damaging	Het
Crem	C	T	18: 3,267,673 (GRCm39)	R190Q	probably damaging	Het
Crybg1	A	G	10: 43,832,756 (GRCm39)	S2000P	probably damaging	Het
Cubn	T	A	2: 13,329,995 (GRCm39)	T2629S	probably benign	Het
Cyp3a44	G	T	5: 145,714,756 (GRCm39)	S465Y	probably damaging	Het
Daam2	A	C	17: 49,793,525 (GRCm39)	F331V	probably damaging	Het
Dnajc3	T	C	14: 119,205,443 (GRCm39)	S146P	possibly damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fam184b	G	A	5: 45,740,238 (GRCm39)	S316L	probably benign	Het
Fat2	G	C	11: 55,144,760 (GRCm39)	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,360,437 (GRCm39)	R439C	probably damaging	Het
Gm3454	T	A	15: 75,183,448 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,617 (GRCm39)	E284G	probably benign	Het
Grm1	A	T	10: 10,595,549 (GRCm39)	I693N	probably damaging	Het
Gsdme	T	A	6: 50,222,934 (GRCm39)	Q127L	probably damaging	Het
Ifnlr1	A	G	4: 135,432,937 (GRCm39)	K458E	probably benign	Het
Kcns2	T	C	15: 34,839,080 (GRCm39)	F148L	probably benign	Het
Lama1	A	G	17: 68,057,638 (GRCm39)	T571A	probably benign	Het
Loxhd1	G	A	18: 77,469,254 (GRCm39)	V108M	probably damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Ncor1	A	T	11: 62,264,147 (GRCm39)	D144E	possibly damaging	Het
Nos3	A	T	5: 24,584,809 (GRCm39)	T738S	probably benign	Het
Nrxn2	A	T	19: 6,567,162 (GRCm39)	T1353S	probably damaging	Het
Or2b7	G	T	13: 21,740,077 (GRCm39)	S38R	probably benign	Het
Or4f4b	T	C	2: 111,314,195 (GRCm39)	L140P	probably damaging	Het
Or8g17	A	G	9: 38,930,261 (GRCm39)	I192T	probably benign	Het
Pfpl	A	G	19: 12,406,747 (GRCm39)	T333A	probably damaging	Het
Postn	A	T	3: 54,284,137 (GRCm39)	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,378,383 (GRCm39)	V604A	probably benign	Het
Pramel13	A	C	4: 144,119,598 (GRCm39)	I323S	possibly damaging	Het
Rel	A	G	11: 23,692,684 (GRCm39)	S450P	probably benign	Het
Rpap2	A	C	5: 107,745,661 (GRCm39)	D3A	probably damaging	Het
Shisa9	T	C	16: 11,802,772 (GRCm39)	F110L	possibly damaging	Het
Slc25a10	A	T	11: 120,385,784 (GRCm39)		probably null	Het
Slx4	A	T	16: 3,798,021 (GRCm39)	F1454L	probably damaging	Het
Smc1b	A	T	15: 84,950,430 (GRCm39)	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,015,600 (GRCm39)	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,259,833 (GRCm39)	M568T	probably benign	Het
Tle4	T	C	19: 14,429,472 (GRCm39)	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,797,379 (GRCm39)	N803D	probably benign	Het
Trim10	A	T	17: 37,182,606 (GRCm39)	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,131,025 (GRCm39)		probably benign	Het
Zfp106	T	C	2: 120,365,874 (GRCm39)	S178G	probably benign	Het
Zftraf1	C	T	15: 76,543,058 (GRCm39)	R34Q	probably 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
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

Posted On

2017-06-26