Mutagenetix > Incidental Mutation

Incidental Mutation 'R6633:Adamdec1'

525339

Institutional Source

Beutler Lab

Gene Symbol

Adamdec1

Ensembl Gene

ENSMUSG00000022057

Gene Name

ADAM-like, decysin 1

Synonyms

Dcsn, 2210414L24Rik

MMRRC Submission

044755-MU

Accession Numbers

Essential gene?

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

Stock #

R6633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68800829-68819535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68810601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 185 (D185G)

Ref Sequence

ENSEMBL: ENSMUSP00000022641 (fasta)

Gene Model

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

AlphaFold

Q9R0X2

Predicted Effect

probably benign
Transcript: ENSMUST00000022641
AA Change: D185G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: D185G

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	A	11: 84,402,308 (GRCm39)		probably null	Het
Acot7	C	T	4: 152,262,716 (GRCm39)	P30L	probably benign	Het
Adam24	T	G	8: 41,133,526 (GRCm39)	D331E	probably benign	Het
Adgrg7	T	C	16: 56,550,649 (GRCm39)	I688V	probably benign	Het
Adgrv1	A	T	13: 81,716,762 (GRCm39)	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,565,450 (GRCm39)	I172V	probably benign	Het
Anapc4	C	T	5: 53,023,288 (GRCm39)	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,103,370 (GRCm39)	N179S	probably benign	Het
Arhgef40	C	T	14: 52,234,888 (GRCm39)	P1064S	probably damaging	Het
Btnl1	A	G	17: 34,604,305 (GRCm39)	N362S	possibly damaging	Het
Ccdc80	T	C	16: 44,915,271 (GRCm39)	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,642,533 (GRCm39)	E180K	probably benign	Het
Cdh2	A	T	18: 16,773,605 (GRCm39)	N241K	probably benign	Het
Cdk8	C	A	5: 146,235,656 (GRCm39)	S261*	probably null	Het
Csf2rb2	T	C	15: 78,173,152 (GRCm39)	E236G	probably benign	Het
Dgcr8	A	T	16: 18,102,046 (GRCm39)	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,933 (GRCm39)	Y1346F	probably benign	Het
Dock6	A	G	9: 21,731,627 (GRCm39)	V1194A	probably benign	Het
Dock6	A	G	9: 21,732,799 (GRCm39)	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,411,307 (GRCm39)	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738 (GRCm39)		probably benign	Het
Fcer1a	C	G	1: 173,054,293 (GRCm39)		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,856,442 (GRCm39)		probably null	Het
Gm44511	T	A	6: 128,803,205 (GRCm39)	D2V	probably damaging	Het
H2-Q2	A	G	17: 35,561,363 (GRCm39)	T19A	probably damaging	Het
Herc1	G	T	9: 66,346,534 (GRCm39)	E1967*	probably null	Het
Hic1	G	T	11: 75,060,324 (GRCm39)	H8N	unknown	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Jarid2	C	A	13: 45,038,353 (GRCm39)	H84N	probably damaging	Het
Klk1b27	A	T	7: 43,705,234 (GRCm39)	I134F	probably damaging	Het
Kprp	T	C	3: 92,732,600 (GRCm39)	Y150C	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,706,531 (GRCm39)	V489A	probably benign	Het
Mrgpra6	A	G	7: 46,838,493 (GRCm39)	I235T	possibly damaging	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Or4c12	T	C	2: 89,773,710 (GRCm39)	I250V	probably benign	Het
Plcl2	A	G	17: 50,947,168 (GRCm39)	I1016V	probably benign	Het
Plekhb1	A	G	7: 100,294,846 (GRCm39)	Y122H	probably damaging	Het
Polr2a	A	G	11: 69,626,339 (GRCm39)	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,137,458 (GRCm39)		probably null	Het
Rag1	T	A	2: 101,473,055 (GRCm39)	R696W	probably damaging	Het
Rusc2	T	C	4: 43,414,852 (GRCm39)	F53L	probably damaging	Het
Rxylt1	G	A	10: 121,932,958 (GRCm39)	R7W	probably damaging	Het
Tango6	T	C	8: 107,444,637 (GRCm39)	V514A	probably benign	Het
Tex30	A	C	1: 44,127,084 (GRCm39)	H64Q	probably benign	Het
Tmbim7	A	G	5: 3,707,659 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,682,529 (GRCm39)	M493T	probably benign	Het
Tpx2	T	G	2: 152,709,274 (GRCm39)	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971 (GRCm39)	T112I	probably benign	Het
Wnt2b	T	C	3: 104,858,372 (GRCm39)	Y299C	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
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
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'- CTCACAATGATTCAGGTGCTTAC -3'
(R):5'- TCACTCCATTCTTAGTGGGATG -3'

Sequencing Primer
(F):5'- GGTGCTTACAATTTTTCTTCCAAAAC -3'
(R):5'- CCATTCTTAGTGGGATGTATGAATG -3'

Posted On

2018-06-22