Mutagenetix > Incidental Mutation

Incidental Mutation 'R6847:Adam26a'

534813

Institutional Source

Beutler Lab

Gene Symbol

Adam26a

Ensembl Gene

ENSMUSG00000048516

Gene Name

a disintegrin and metallopeptidase domain 26A (testase 3)

Synonyms

Dtgn4, Adam26

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43568278-43576707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43568428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 675 (I675T)

Ref Sequence

ENSEMBL: ENSMUSP00000058256 (fasta)

Gene Model

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

AlphaFold

Q9R158

Predicted Effect

probably benign
Transcript: ENSMUST00000049577
AA Change: I675T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: I675T

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	G	A	9: 51,290,204	T184M	probably damaging	Het
Adgrb3	A	T	1: 25,093,922	M1121K	probably benign	Het
Ak9	A	G	10: 41,357,801		probably null	Het
Akr1c6	T	A	13: 4,438,498	C34*	probably null	Het
Akt3	G	A	1: 177,031,659	P449S	probably damaging	Het
Atg2b	A	T	12: 105,635,788	V1643E	probably damaging	Het
Atp2c1	T	C	9: 105,418,579	I819V	probably damaging	Het
Casp3	C	T	8: 46,636,266	A183V	probably benign	Het
Cdk1	A	T	10: 69,338,528	D288E	probably benign	Het
Cep131	G	A	11: 120,065,691	R944W	probably damaging	Het
Cep290	A	G	10: 100,563,419	K2268E	probably damaging	Het
Crybg2	A	G	4: 134,065,546	E164G	probably benign	Het
Cubn	A	C	2: 13,444,253		probably null	Het
Dnajc14	A	T	10: 128,816,787	E571D	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Eef1b2	A	G	1: 63,178,489	E44G	probably benign	Het
Eml6	C	T	11: 29,818,447	V747I	probably benign	Het
Ext1	T	G	15: 53,345,154	Q70H	probably benign	Het
Gbp2b	T	A	3: 142,598,179	C12S	probably damaging	Het
Gbp8	A	C	5: 105,031,227	D135E	probably benign	Het
Gm12886	A	T	4: 121,416,719	L100*	probably null	Het
Gpatch1	A	T	7: 35,293,558		probably null	Het
Ifit3b	A	T	19: 34,611,525	M34L	probably benign	Het
Il12a	G	T	3: 68,695,566	D160Y	probably damaging	Het
Klhl2	A	G	8: 64,759,782	L241P	probably damaging	Het
Krt80	T	C	15: 101,358,729	E195G	probably benign	Het
Lgi1	T	C	19: 38,301,290	V268A	probably damaging	Het
Lrrfip1	A	T	1: 91,105,128	D216V	probably damaging	Het
Meis3	A	G	7: 16,183,864	N314S	probably damaging	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myh15	A	T	16: 49,145,088	I1119F	possibly damaging	Het
Nav2	A	T	7: 49,491,456	Q916H	probably benign	Het
Ncam2	A	T	16: 81,432,718	Q22L	probably damaging	Het
Olfr1474	A	T	19: 13,471,038	I23F	probably benign	Het
P2rx4	G	A	5: 122,727,751	V329M	probably damaging	Het
Peg10	A	G	6: 4,754,279		probably benign	Het
Pgp	T	C	17: 24,471,401	L267P	probably damaging	Het
Prdm2	A	C	4: 143,132,950	S1257A	probably benign	Het
Prr12	T	C	7: 45,045,740	N1434S	unknown	Het
Psmc3ip	A	T	11: 101,095,173	H40Q	probably damaging	Het
Ptprc	A	T	1: 138,088,545	N526K	probably damaging	Het
Sec63	T	A	10: 42,791,253	D138E	probably damaging	Het
Serpinb13	A	G	1: 106,998,933	N220D	probably benign	Het
Siva1	G	A	12: 112,644,910		probably benign	Het
Slc39a12	A	G	2: 14,449,917	H546R	probably damaging	Het
Slc7a1	G	A	5: 148,334,658	A497V	probably benign	Het
Smg5	G	T	3: 88,342,552	K95N	probably damaging	Het
Speer1	G	A	5: 11,344,167	V78M	probably damaging	Het
Traj50	T	A	14: 54,167,644		probably benign	Het
Ubr3	T	C	2: 69,983,128	V1261A	probably damaging	Het
Zc3h11a	A	T	1: 133,638,962		probably null	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
IGL01514:Adam26a	APN	8	43568448	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CACACAAATGTATGGGTGCCTC -3'
(R):5'- TTCTGGTAAGTAACTGTTCACCAC -3'

Sequencing Primer
(F):5'- GACAGAGACACTCAGATACAGAGC -3'
(R):5'- GTTCACCACAGTTATACCATATGC -3'

Posted On

2018-09-12