Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02734:Adam26a'

305573

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam26a

Ensembl Gene

ENSMUSG00000048516

Gene Name

ADAM metallopeptidase domain 26A

Synonyms

Dtgn4, Adam26

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02734

Quality Score

Status

Chromosome

Chromosomal Location

44021315-44029744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44022812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 226 (V226A)

Ref Sequence

ENSEMBL: ENSMUSP00000058256 (fasta)

Gene Model

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

AlphaFold

Q9R158

Predicted Effect

probably benign
Transcript: ENSMUST00000049577
AA Change: V226A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: V226A

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,506,349 (GRCm39)	D114V	probably damaging	Het
Anapc4	T	A	5: 53,018,633 (GRCm39)	V525E	probably benign	Het
Apip	C	T	2: 102,919,889 (GRCm39)		probably benign	Het
Bak1	A	G	17: 27,239,927 (GRCm39)	V203A	possibly damaging	Het
Bche	T	A	3: 73,609,409 (GRCm39)	T6S	probably benign	Het
Ceacam5	T	A	7: 17,484,737 (GRCm39)	V493D	probably damaging	Het
Cstf3	T	A	2: 104,439,539 (GRCm39)		probably benign	Het
Fam227a	A	T	15: 79,502,042 (GRCm39)		probably benign	Het
Fbln1	G	T	15: 85,111,182 (GRCm39)	C112F	probably damaging	Het
Gm12695	G	A	4: 96,612,267 (GRCm39)	R499*	probably null	Het
Igdcc4	T	G	9: 65,038,738 (GRCm39)	S887A	possibly damaging	Het
Itgb4	G	T	11: 115,896,792 (GRCm39)	R1470L	probably benign	Het
Kif1a	T	C	1: 92,990,280 (GRCm39)	E480G	probably damaging	Het
Mgam	T	A	6: 40,639,628 (GRCm39)	F497L	probably damaging	Het
Or4a74	T	C	2: 89,440,303 (GRCm39)	I48V	probably benign	Het
Or5ar1	T	G	2: 85,671,883 (GRCm39)	D84A	possibly damaging	Het
Or5t5	T	C	2: 86,616,712 (GRCm39)	Y213H	probably benign	Het
Prl7a2	A	T	13: 27,843,190 (GRCm39)	D204E	probably benign	Het
Shd	A	G	17: 56,278,632 (GRCm39)	Y65C	probably damaging	Het
Slc25a39	A	G	11: 102,295,349 (GRCm39)	V207A	probably benign	Het
Sptlc2	T	C	12: 87,402,444 (GRCm39)	T161A	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tacc2	G	T	7: 130,227,829 (GRCm39)	V1505L	probably damaging	Het
Taf6	T	C	5: 138,182,118 (GRCm39)	K76E	possibly damaging	Het
Trak2	G	A	1: 58,949,222 (GRCm39)	T526M	probably benign	Het
Zc3h4	T	C	7: 16,157,849 (GRCm39)	I353T	unknown	Het

Other mutations in Adam26a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Adam26a	APN	8	44,021,896 (GRCm39)	missense	possibly damaging	0.75
IGL00519:Adam26a	APN	8	44,022,562 (GRCm39)	missense	probably damaging	1.00
IGL00658:Adam26a	APN	8	44,021,940 (GRCm39)	missense	probably benign	0.00
IGL01514:Adam26a	APN	8	44,021,485 (GRCm39)	missense	probably benign
IGL01988:Adam26a	APN	8	44,022,207 (GRCm39)	missense	possibly damaging	0.68
IGL02030:Adam26a	APN	8	44,021,894 (GRCm39)	missense	probably benign	0.00
IGL02081:Adam26a	APN	8	44,023,233 (GRCm39)	missense	probably damaging	0.99
IGL02444:Adam26a	APN	8	44,022,710 (GRCm39)	missense	possibly damaging	0.46
IGL03243:Adam26a	APN	8	44,021,733 (GRCm39)	missense	probably benign	0.14
IGL03350:Adam26a	APN	8	44,022,589 (GRCm39)	nonsense	probably null
R0206:Adam26a	UTSW	8	44,023,455 (GRCm39)	missense	possibly damaging	0.81
R0206:Adam26a	UTSW	8	44,023,455 (GRCm39)	missense	possibly damaging	0.81
R0324:Adam26a	UTSW	8	44,021,490 (GRCm39)	missense	probably benign
R0830:Adam26a	UTSW	8	44,021,439 (GRCm39)	missense	probably benign	0.23
R0960:Adam26a	UTSW	8	44,021,800 (GRCm39)	missense	probably damaging	1.00
R1259:Adam26a	UTSW	8	44,021,750 (GRCm39)	missense	possibly damaging	0.95
R1259:Adam26a	UTSW	8	44,021,684 (GRCm39)	missense	probably benign	0.20
R1403:Adam26a	UTSW	8	44,022,229 (GRCm39)	nonsense	probably null
R1403:Adam26a	UTSW	8	44,022,229 (GRCm39)	nonsense	probably null
R1719:Adam26a	UTSW	8	44,023,073 (GRCm39)	missense	possibly damaging	0.93
R1750:Adam26a	UTSW	8	44,023,226 (GRCm39)	missense	possibly damaging	0.90
R1860:Adam26a	UTSW	8	44,022,578 (GRCm39)	missense	possibly damaging	0.66
R1861:Adam26a	UTSW	8	44,022,578 (GRCm39)	missense	possibly damaging	0.66
R1875:Adam26a	UTSW	8	44,022,888 (GRCm39)	missense	probably benign	0.37
R3959:Adam26a	UTSW	8	44,022,908 (GRCm39)	missense	probably benign	0.00
R4355:Adam26a	UTSW	8	44,023,222 (GRCm39)	missense	probably benign	0.35
R4604:Adam26a	UTSW	8	44,023,088 (GRCm39)	missense	probably benign	0.02
R4612:Adam26a	UTSW	8	44,021,830 (GRCm39)	missense	probably damaging	0.99
R4909:Adam26a	UTSW	8	44,023,475 (GRCm39)	missense	probably benign	0.08
R4937:Adam26a	UTSW	8	44,021,918 (GRCm39)	missense	probably damaging	1.00
R5112:Adam26a	UTSW	8	44,021,893 (GRCm39)	missense	probably benign	0.04
R5276:Adam26a	UTSW	8	44,023,457 (GRCm39)	missense	probably benign	0.30
R5406:Adam26a	UTSW	8	44,022,141 (GRCm39)	missense	probably damaging	1.00
R5501:Adam26a	UTSW	8	44,022,941 (GRCm39)	nonsense	probably null
R5955:Adam26a	UTSW	8	44,022,889 (GRCm39)	missense	probably benign	0.11
R6262:Adam26a	UTSW	8	44,022,125 (GRCm39)	missense	possibly damaging	0.91
R6847:Adam26a	UTSW	8	44,021,465 (GRCm39)	missense	probably benign	0.23
R6957:Adam26a	UTSW	8	44,021,940 (GRCm39)	missense	probably benign	0.00
R7053:Adam26a	UTSW	8	44,021,836 (GRCm39)	nonsense	probably null
R7287:Adam26a	UTSW	8	44,023,380 (GRCm39)	missense	possibly damaging	0.95
R7393:Adam26a	UTSW	8	44,022,725 (GRCm39)	missense	probably benign	0.01
R7477:Adam26a	UTSW	8	44,022,107 (GRCm39)	missense	probably damaging	1.00
R7552:Adam26a	UTSW	8	44,023,007 (GRCm39)	missense	possibly damaging	0.77
R7670:Adam26a	UTSW	8	44,023,190 (GRCm39)	missense	probably benign	0.13
R7918:Adam26a	UTSW	8	44,022,566 (GRCm39)	missense	probably damaging	0.98
R8193:Adam26a	UTSW	8	44,022,273 (GRCm39)	missense	probably damaging	1.00
R8262:Adam26a	UTSW	8	44,022,178 (GRCm39)	nonsense	probably null
R8987:Adam26a	UTSW	8	44,022,358 (GRCm39)	missense	probably benign	0.02
R9104:Adam26a	UTSW	8	44,023,108 (GRCm39)	missense	probably damaging	0.99
R9350:Adam26a	UTSW	8	44,022,669 (GRCm39)	missense	probably benign	0.00
R9487:Adam26a	UTSW	8	44,022,456 (GRCm39)	missense	possibly damaging	0.49
R9550:Adam26a	UTSW	8	44,022,120 (GRCm39)	missense	probably damaging	1.00
R9762:Adam26a	UTSW	8	44,021,635 (GRCm39)	missense	probably benign	0.00
Z1088:Adam26a	UTSW	8	44,022,735 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16