Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01444:Adam25'

84347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam25

Ensembl Gene

ENSMUSG00000071937

Gene Name

a disintegrin and metallopeptidase domain 25 (testase 2)

Synonyms

testase 2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

40752208-40756176 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40754921 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 408 (R408H)

Ref Sequence

ENSEMBL: ENSMUSP00000094420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096663]

Predicted Effect

probably benign
Transcript: ENSMUST00000096663
AA Change: R408H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: R408H

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	53	179	3.4e-21	PFAM
Pfam:Reprolysin_5	220	398	1.6e-16	PFAM
Pfam:Reprolysin_4	220	407	2.5e-13	PFAM
Pfam:Reprolysin	221	410	5.6e-46	PFAM
Pfam:Reprolysin_2	222	399	9.7e-14	PFAM
Pfam:Reprolysin_3	246	366	1e-18	PFAM
DISIN	428	503	3.33e-39	SMART
ACR	504	640	8.95e-74	SMART
transmembrane domain	706	728	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	G	11: 23,620,225		probably benign	Het
Adad1	A	T	3: 37,092,034	N517I	probably damaging	Het
Ang	C	A	14: 51,101,667	Y88*	probably null	Het
Ankrd42	T	C	7: 92,610,585	T327A	probably damaging	Het
Birc6	A	G	17: 74,631,687	D2696G	probably damaging	Het
Chd3	G	A	11: 69,348,742	T1717M	probably benign	Het
Csmd1	T	A	8: 16,200,055	M970L	probably benign	Het
Dhx32	T	C	7: 133,748,977	I121M	possibly damaging	Het
Dnah11	G	A	12: 118,020,232	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,673,709	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,340,090	L1197P	probably damaging	Het
Eps8l2	T	C	7: 141,361,375		probably benign	Het
Exoc3	T	C	13: 74,206,935	K49R	probably damaging	Het
Exoc8	T	A	8: 124,895,841	T596S	possibly damaging	Het
F13a1	C	T	13: 36,918,577	G391R	probably null	Het
Fam35a	C	A	14: 34,237,557	V823F	probably damaging	Het
Fat3	A	T	9: 15,998,848	S1953T	probably damaging	Het
Gls2	C	A	10: 128,201,347	N252K	probably damaging	Het
Gm5346	A	T	8: 43,626,433	D251E	probably benign	Het
Haus2	G	A	2: 120,615,942	R115K	probably benign	Het
Ift122	A	G	6: 115,884,379	K262E	probably benign	Het
Islr2	C	T	9: 58,198,378	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,443,716	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,216,169	R354W	probably damaging	Het
Olfr776	T	A	10: 129,261,335	C125S	probably damaging	Het
Pcolce	A	T	5: 137,607,476	S200R	probably damaging	Het
Plec	A	G	15: 76,179,297	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,780,372	D74E	probably benign	Het
Ptk7	A	G	17: 46,565,387	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,475,300	Y887H	possibly damaging	Het
Sez6l2	G	A	7: 126,961,883	E447K	possibly damaging	Het
Snrnp70	C	T	7: 45,387,236		probably null	Het
Timm10	T	A	2: 84,829,864	V49E	probably damaging	Het
Tox2	T	C	2: 163,225,466		probably benign	Het
Usp20	T	A	2: 30,998,789	M1K	probably null	Het
Usp32	A	C	11: 85,059,164	L223V	probably damaging	Het
Zeb1	T	C	18: 5,767,138	S550P	probably benign	Het
Zeb1	G	T	18: 5,767,906	A806S	probably damaging	Het

Other mutations in Adam25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Adam25	APN	8	40755097	missense	probably benign	0.00
IGL02098:Adam25	APN	8	40755643	missense	probably benign	0.12
IGL02233:Adam25	APN	8	40755386	missense	probably damaging	1.00
IGL02458:Adam25	APN	8	40753807	missense	probably benign	0.01
IGL02527:Adam25	APN	8	40753748	missense	possibly damaging	0.78
IGL02632:Adam25	APN	8	40755200	missense	possibly damaging	0.90
IGL02995:Adam25	APN	8	40753723	missense	probably benign	0.00
H8786:Adam25	UTSW	8	40754224	missense	probably benign	0.00
R0062:Adam25	UTSW	8	40754792	missense	probably damaging	1.00
R0062:Adam25	UTSW	8	40754792	missense	probably damaging	1.00
R0189:Adam25	UTSW	8	40755430	missense	probably damaging	1.00
R0505:Adam25	UTSW	8	40755224	missense	probably damaging	1.00
R0532:Adam25	UTSW	8	40755950	missense	probably benign	0.00
R0699:Adam25	UTSW	8	40755974	missense	probably benign
R0972:Adam25	UTSW	8	40755131	missense	probably damaging	1.00
R1053:Adam25	UTSW	8	40754731	missense	probably benign	0.30
R1079:Adam25	UTSW	8	40755476	missense	possibly damaging	0.87
R1872:Adam25	UTSW	8	40755226	nonsense	probably null
R1933:Adam25	UTSW	8	40754885	missense	probably benign	0.01
R1934:Adam25	UTSW	8	40754885	missense	probably benign	0.01
R4061:Adam25	UTSW	8	40753782	missense	possibly damaging	0.67
R4702:Adam25	UTSW	8	40754126	missense	probably damaging	1.00
R4703:Adam25	UTSW	8	40754126	missense	probably damaging	1.00
R4705:Adam25	UTSW	8	40754126	missense	probably damaging	1.00
R4859:Adam25	UTSW	8	40754543	missense	probably benign	0.01
R5015:Adam25	UTSW	8	40754634	missense	probably benign	0.22
R5249:Adam25	UTSW	8	40755954	missense	probably benign
R5628:Adam25	UTSW	8	40755710	missense	probably benign	0.00
R5791:Adam25	UTSW	8	40754220	missense	probably benign
R6439:Adam25	UTSW	8	40754590	missense	possibly damaging	0.92
R6693:Adam25	UTSW	8	40754531	missense	probably damaging	1.00
R7041:Adam25	UTSW	8	40754084	missense	probably benign	0.04
R7101:Adam25	UTSW	8	40755401	missense	probably benign	0.00
R7531:Adam25	UTSW	8	40753877	missense	probably damaging	0.99
R7600:Adam25	UTSW	8	40755817	missense	probably benign	0.01
R7634:Adam25	UTSW	8	40754846	missense	probably benign	0.00
RF006:Adam25	UTSW	8	40755797	missense	probably benign

Posted On

2013-11-11