Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00519:Adam26a'

5042

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 #

IGL00519

Quality Score

Status

Chromosome

Chromosomal Location

44021315-44029744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44022562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 309 (N309K)

Ref Sequence

ENSEMBL: ENSMUSP00000058256 (fasta)

Gene Model

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

AlphaFold

Q9R158

Predicted Effect

probably damaging
Transcript: ENSMUST00000049577
AA Change: N309K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: N309K

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap1	G	A	15: 63,982,791 (GRCm39)	P846S	probably damaging	Het
Atg10	A	G	13: 91,302,330 (GRCm39)		probably benign	Het
Cdk18	C	A	1: 132,043,226 (GRCm39)	R433L	probably benign	Het
Celsr1	A	G	15: 85,915,037 (GRCm39)	Y979H	probably damaging	Het
Cracr2b	T	C	7: 141,045,670 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,377,266 (GRCm39)	F2049L	probably benign	Het
Cubn	T	C	2: 13,287,730 (GRCm39)	N3450D	probably benign	Het
Dmrt1	T	C	19: 25,580,638 (GRCm39)	L350P	probably damaging	Het
Dnah5	A	T	15: 28,444,364 (GRCm39)	D4054V	probably benign	Het
Dpp8	A	T	9: 64,985,290 (GRCm39)	T783S	probably damaging	Het
Enpp3	T	C	10: 24,663,670 (GRCm39)	T564A	probably benign	Het
Exoc6b	T	C	6: 84,966,435 (GRCm39)	K180E	probably benign	Het
Faf1	T	A	4: 109,697,578 (GRCm39)	F301L	probably benign	Het
Fbxo7	A	T	10: 85,864,928 (GRCm39)	E77V	probably damaging	Het
Gabpa	T	G	16: 84,657,489 (GRCm39)	*455G	probably null	Het
Hexim2	A	T	11: 103,024,905 (GRCm39)	M1L	probably benign	Het
Lrrc24	T	A	15: 76,602,263 (GRCm39)	N164I	probably damaging	Het
Lrrc8b	G	A	5: 105,629,591 (GRCm39)	A646T	possibly damaging	Het
Mansc1	T	A	6: 134,587,769 (GRCm39)	Q136L	possibly damaging	Het
Mlxip	T	A	5: 123,585,268 (GRCm39)	V592E	probably benign	Het
Ncor2	T	C	5: 125,161,988 (GRCm39)	T429A	unknown	Het
Tbcd	A	G	11: 121,466,147 (GRCm39)	N591S	probably damaging	Het
Tenm4	T	C	7: 96,454,345 (GRCm39)		probably benign	Het
Uri1	A	G	7: 37,660,978 (GRCm39)	S522P	probably damaging	Het
Ush2a	C	T	1: 188,176,865 (GRCm39)	S1343L	probably benign	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
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
IGL02734:Adam26a	APN	8	44,022,812 (GRCm39)	missense	probably benign	0.27
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

2012-04-20