Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01514:Adam26a'

89318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam26a

Ensembl Gene

ENSMUSG00000048516

Gene Name

a disintegrin and metallopeptidase domain 26A (testase 3)

Synonyms

Dtgn4, Adam26

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01514

Quality Score

Status

Chromosome

Chromosomal Location

43568278-43576707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43568448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 668 (H668Q)

Ref Sequence

ENSEMBL: ENSMUSP00000058256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049577]

AlphaFold

Q9R158

Predicted Effect

probably benign
Transcript: ENSMUST00000049577
AA Change: H668Q

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

SMART Domains

Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: H668Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	29	147	2.1e-18	PFAM
Pfam:Reprolysin_5	193	364	4.8e-15	PFAM
Pfam:Reprolysin_4	194	380	2.2e-9	PFAM
Pfam:Reprolysin	195	385	2.7e-48	PFAM
Pfam:Reprolysin_2	215	377	2.4e-16	PFAM
Pfam:Reprolysin_3	219	340	1.2e-15	PFAM
DISIN	401	476	2.98e-41	SMART
ACR	477	613	2.06e-64	SMART
transmembrane domain	671	693	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 the late stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to two other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	G	2: 93,839,242		probably benign	Het
Actl7b	T	C	4: 56,740,677	Y227C	probably damaging	Het
Alcam	A	T	16: 52,274,290		probably benign	Het
Aldh3a2	C	T	11: 61,253,798		probably benign	Het
Atp11b	G	T	3: 35,836,981	G801V	probably damaging	Het
C3	G	A	17: 57,215,866	T1006I	probably benign	Het
Cacna2d4	T	C	6: 119,282,173		probably benign	Het
Cldn34b3	A	T	X: 76,267,074	I83F	probably damaging	Het
Clec2g	G	A	6: 128,948,773	M48I	probably benign	Het
Coch	A	G	12: 51,603,353	D375G	probably damaging	Het
Erbb2	C	T	11: 98,432,919	T653I	possibly damaging	Het
Etv3	A	G	3: 87,535,718	H203R	possibly damaging	Het
Fat4	A	G	3: 38,949,534	R1801G	possibly damaging	Het
Gars	T	A	6: 55,065,520	S413T	probably benign	Het
Gnat1	G	A	9: 107,676,301	R253C	possibly damaging	Het
Hook3	A	T	8: 26,088,189	L91I	possibly damaging	Het
Lrp8	T	C	4: 107,855,684	Y377H	probably damaging	Het
Lztr1	G	A	16: 17,522,391		probably null	Het
Malt1	A	G	18: 65,476,400	D825G	possibly damaging	Het
Nlrp9b	T	C	7: 20,045,934		probably null	Het
Olfr1396	A	T	11: 49,113,576	I50N	probably damaging	Het
Olfr54	C	T	11: 51,027,589	R196*	probably null	Het
Orc1	A	G	4: 108,602,052	R473G	probably damaging	Het
Pard6g	G	A	18: 80,117,446	R258H	probably damaging	Het
Pkdrej	T	C	15: 85,818,063	D1224G	possibly damaging	Het
Polr1e	A	G	4: 45,018,723	T18A	probably benign	Het
Pycrl	T	C	15: 75,917,004	T240A	probably damaging	Het
Ralgapa1	C	A	12: 55,719,657	G1284V	probably damaging	Het
Rcl1	T	C	19: 29,143,298		probably benign	Het
Sec24c	C	T	14: 20,682,771	T134I	possibly damaging	Het
Sis	A	G	3: 72,935,920		probably benign	Het
Susd5	A	C	9: 114,068,879		probably benign	Het
Tlk1	T	C	2: 70,752,266	N173S	probably benign	Het
Uroc1	T	C	6: 90,363,100		probably benign	Het

Other mutations in Adam26a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Adam26a	APN	8	43568859	missense	possibly damaging	0.75
IGL00519:Adam26a	APN	8	43569525	missense	probably damaging	1.00
IGL00658:Adam26a	APN	8	43568903	missense	probably benign	0.00
IGL01988:Adam26a	APN	8	43569170	missense	possibly damaging	0.68
IGL02030:Adam26a	APN	8	43568857	missense	probably benign	0.00
IGL02081:Adam26a	APN	8	43570196	missense	probably damaging	0.99
IGL02444:Adam26a	APN	8	43569673	missense	possibly damaging	0.46
IGL02734:Adam26a	APN	8	43569775	missense	probably benign	0.27
IGL03243:Adam26a	APN	8	43568696	missense	probably benign	0.14
IGL03350:Adam26a	APN	8	43569552	nonsense	probably null
R0206:Adam26a	UTSW	8	43570418	missense	possibly damaging	0.81
R0206:Adam26a	UTSW	8	43570418	missense	possibly damaging	0.81
R0324:Adam26a	UTSW	8	43568453	missense	probably benign
R0830:Adam26a	UTSW	8	43568402	missense	probably benign	0.23
R0960:Adam26a	UTSW	8	43568763	missense	probably damaging	1.00
R1259:Adam26a	UTSW	8	43568647	missense	probably benign	0.20
R1259:Adam26a	UTSW	8	43568713	missense	possibly damaging	0.95
R1403:Adam26a	UTSW	8	43569192	nonsense	probably null
R1403:Adam26a	UTSW	8	43569192	nonsense	probably null
R1719:Adam26a	UTSW	8	43570036	missense	possibly damaging	0.93
R1750:Adam26a	UTSW	8	43570189	missense	possibly damaging	0.90
R1860:Adam26a	UTSW	8	43569541	missense	possibly damaging	0.66
R1861:Adam26a	UTSW	8	43569541	missense	possibly damaging	0.66
R1875:Adam26a	UTSW	8	43569851	missense	probably benign	0.37
R3959:Adam26a	UTSW	8	43569871	missense	probably benign	0.00
R4355:Adam26a	UTSW	8	43570185	missense	probably benign	0.35
R4604:Adam26a	UTSW	8	43570051	missense	probably benign	0.02
R4612:Adam26a	UTSW	8	43568793	missense	probably damaging	0.99
R4909:Adam26a	UTSW	8	43570438	missense	probably benign	0.08
R4937:Adam26a	UTSW	8	43568881	missense	probably damaging	1.00
R5112:Adam26a	UTSW	8	43568856	missense	probably benign	0.04
R5276:Adam26a	UTSW	8	43570420	missense	probably benign	0.30
R5406:Adam26a	UTSW	8	43569104	missense	probably damaging	1.00
R5501:Adam26a	UTSW	8	43569904	nonsense	probably null
R5955:Adam26a	UTSW	8	43569852	missense	probably benign	0.11
R6262:Adam26a	UTSW	8	43569088	missense	possibly damaging	0.91
R6847:Adam26a	UTSW	8	43568428	missense	probably benign	0.23
R6957:Adam26a	UTSW	8	43568903	missense	probably benign	0.00
R7053:Adam26a	UTSW	8	43568799	nonsense	probably null
R7287:Adam26a	UTSW	8	43570343	missense	possibly damaging	0.95
R7393:Adam26a	UTSW	8	43569688	missense	probably benign	0.01
R7477:Adam26a	UTSW	8	43569070	missense	probably damaging	1.00
R7552:Adam26a	UTSW	8	43569970	missense	possibly damaging	0.77
R7670:Adam26a	UTSW	8	43570153	missense	probably benign	0.13
R7918:Adam26a	UTSW	8	43569529	missense	probably damaging	0.98
R8193:Adam26a	UTSW	8	43569236	missense	probably damaging	1.00
R8262:Adam26a	UTSW	8	43569141	nonsense	probably null
R8987:Adam26a	UTSW	8	43569321	missense	probably benign	0.02
R9104:Adam26a	UTSW	8	43570071	missense	probably damaging	0.99
R9350:Adam26a	UTSW	8	43569632	missense	probably benign	0.00
R9487:Adam26a	UTSW	8	43569419	missense	possibly damaging	0.49
R9550:Adam26a	UTSW	8	43569083	missense	probably damaging	1.00
R9762:Adam26a	UTSW	8	43568598	missense	probably benign	0.00
Z1088:Adam26a	UTSW	8	43569698	missense	probably damaging	1.00

Posted On

2013-12-03