Mutagenetix > Incidental Mutation

Incidental Mutation 'R1259:Adam26a'

151544

Institutional Source

Beutler Lab

Gene Symbol

Adam26a

Ensembl Gene

ENSMUSG00000048516

Gene Name

ADAM metallopeptidase domain 26A

Synonyms

Dtgn4, Adam26

MMRRC Submission

039326-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44021315-44029744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44021684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 602 (D602V)

Ref Sequence

ENSEMBL: ENSMUSP00000058256 (fasta)

Gene Model

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

AlphaFold

Q9R158

Predicted Effect

probably benign
Transcript: ENSMUST00000049577
AA Change: D602V

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: D602V

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galt6	T	G	18: 20,839,559 (GRCm39)	E125A	possibly damaging	Het
Dnm1l	A	G	16: 16,141,870 (GRCm39)	I292T	possibly damaging	Het
Elp3	A	T	14: 65,785,388 (GRCm39)	I471K	probably damaging	Het
Fbxw13	A	T	9: 109,014,439 (GRCm39)	V83E	probably damaging	Het
Gm5422	T	C	10: 31,125,111 (GRCm39)		noncoding transcript	Het
Krtap6-5	C	T	16: 88,844,607 (GRCm39)	R42H	unknown	Het
Lpcat2b	C	T	5: 107,581,763 (GRCm39)	A364V	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Lypd9	A	G	11: 58,338,296 (GRCm39)	I32T	probably benign	Het
Med7	C	G	11: 46,331,460 (GRCm39)	I18M	probably damaging	Het
Muc6	T	A	7: 141,226,464 (GRCm39)		probably benign	Het
Or8b42	T	A	9: 38,342,169 (GRCm39)	L197Q	probably damaging	Het
Or8k16	T	A	2: 85,519,875 (GRCm39)	I34N	probably damaging	Het
Pbrm1	T	C	14: 30,796,771 (GRCm39)	F871L	probably damaging	Het
Pgbd5	T	A	8: 125,097,324 (GRCm39)	D493V	probably damaging	Het
Pik3cd	G	A	4: 149,735,105 (GRCm39)	R1046*	probably null	Het
Pom121l2	G	A	13: 22,166,297 (GRCm39)	W189*	probably null	Het
Prex2	C	A	1: 11,359,494 (GRCm39)	N1567K	probably damaging	Het
Prl	A	G	13: 27,245,472 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,369,739 (GRCm39)	V517A	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Vmn2r12	T	A	5: 109,239,763 (GRCm39)	I267F	probably damaging	Het
Wasf3	T	C	5: 146,388,786 (GRCm39)	V80A	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATGGAGGTGGTCCACTGTCTATAC -3'
(R):5'- CGCTTTGGGAACTGTGGCAATG -3'

Sequencing Primer
(F):5'- GTGGTCCACTGTCTATACTACCTC -3'
(R):5'- GCCAAATTGCTGATGTACTCTG -3'

Posted On

2014-01-29