Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03243:Adam26a'

414298

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 #

IGL03243

Quality Score

Status

Chromosome

Chromosomal Location

44021315-44029744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44021733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 586 (T586A)

Ref Sequence

ENSEMBL: ENSMUSP00000058256 (fasta)

Gene Model

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

AlphaFold

Q9R158

Predicted Effect

probably benign
Transcript: ENSMUST00000049577
AA Change: T586A

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: T586A

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	T	C	3: 20,369,959 (GRCm39)	T216A	probably benign	Het
Ankdd1a	T	C	9: 65,408,752 (GRCm39)	R505G	probably benign	Het
Anxa3	A	T	5: 96,976,551 (GRCm39)		probably benign	Het
Atp6v1c2	C	T	12: 17,339,122 (GRCm39)	V210I	probably benign	Het
BC034090	G	A	1: 155,101,401 (GRCm39)	P288S	possibly damaging	Het
Catsper2	T	C	2: 121,237,300 (GRCm39)	H200R	probably benign	Het
Ceacam23	A	T	7: 17,652,574 (GRCm39)		noncoding transcript	Het
Cntnap5c	G	T	17: 58,409,171 (GRCm39)	A470S	probably benign	Het
Fcho2	G	A	13: 98,913,892 (GRCm39)		probably benign	Het
Frem1	A	C	4: 82,932,206 (GRCm39)	L165R	probably damaging	Het
Gpn1	G	A	5: 31,668,175 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,242,301 (GRCm39)	N181S	probably benign	Het
Heatr5b	A	T	17: 79,070,509 (GRCm39)		probably benign	Het
Kat6a	A	G	8: 23,400,238 (GRCm39)	N333S	possibly damaging	Het
Lrp5	T	C	19: 3,680,159 (GRCm39)	T442A	probably benign	Het
Myo15a	G	T	11: 60,387,344 (GRCm39)	L722F	probably damaging	Het
Nlrp9c	T	G	7: 26,064,457 (GRCm39)	D957A	probably damaging	Het
Nup58	T	A	14: 60,459,065 (GRCm39)	T521S	probably benign	Het
Or7e165	T	G	9: 19,694,564 (GRCm39)	I45S	probably damaging	Het
Plek	C	A	11: 16,945,319 (GRCm39)	V4L	possibly damaging	Het
Sell	T	A	1: 163,892,911 (GRCm39)	H42Q	possibly damaging	Het
Slfn8	A	T	11: 82,894,533 (GRCm39)	I702K	probably damaging	Het
Svep1	T	C	4: 58,133,387 (GRCm39)	I573V	probably benign	Het
Tgm1	T	A	14: 55,943,364 (GRCm39)	I526F	probably damaging	Het
Tmem30c	A	T	16: 57,096,513 (GRCm39)	S203T	probably benign	Het
Tox	T	C	4: 6,697,597 (GRCm39)	N402S	possibly damaging	Het
Trav7d-4	C	A	14: 53,007,555 (GRCm39)		probably benign	Het
Unc13d	A	T	11: 115,958,670 (GRCm39)	V784D	probably benign	Het
Vmn2r68	A	G	7: 84,882,963 (GRCm39)	V263A	possibly damaging	Het
Zfp385c	A	T	11: 100,525,573 (GRCm39)	V56D	probably damaging	Het
Znrf2	A	T	6: 54,861,754 (GRCm39)	I222L	possibly damaging	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
IGL02734:Adam26a	APN	8	44,022,812 (GRCm39)	missense	probably benign	0.27
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

2016-08-02