Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02228:Adam8'

285404

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam8

Ensembl Gene

ENSMUSG00000025473

Gene Name

a disintegrin and metallopeptidase domain 8

Synonyms

CD156, MS2, E430039A18Rik, CD156a

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

139978932-139992562 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 139988806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026546] [ENSMUST00000026546] [ENSMUST00000106069] [ENSMUST00000106069] [ENSMUST00000148670] [ENSMUST00000148670] [ENSMUST00000173209]

AlphaFold

Q05910

Predicted Effect

probably null
Transcript: ENSMUST00000026546

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	151	5.9e-35	PFAM
Pfam:Reprolysin_5	193	371	1e-22	PFAM
Pfam:Reprolysin_4	193	384	1.7e-16	PFAM
Pfam:Reprolysin	195	394	2.7e-70	PFAM
Pfam:Reprolysin_2	214	384	1.6e-16	PFAM
Pfam:Reprolysin_3	218	339	4.9e-21	PFAM
DISIN	411	486	5.16e-36	SMART
ACR	487	606	2.15e-35	SMART
EGF	613	642	3.06e-1	SMART
transmembrane domain	660	682	N/A	INTRINSIC
low complexity region	732	762	N/A	INTRINSIC
low complexity region	770	783	N/A	INTRINSIC
low complexity region	784	812	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000026546

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	151	5.9e-35	PFAM
Pfam:Reprolysin_5	193	371	1e-22	PFAM
Pfam:Reprolysin_4	193	384	1.7e-16	PFAM
Pfam:Reprolysin	195	394	2.7e-70	PFAM
Pfam:Reprolysin_2	214	384	1.6e-16	PFAM
Pfam:Reprolysin_3	218	339	4.9e-21	PFAM
DISIN	411	486	5.16e-36	SMART
ACR	487	606	2.15e-35	SMART
EGF	613	642	3.06e-1	SMART
transmembrane domain	660	682	N/A	INTRINSIC
low complexity region	732	762	N/A	INTRINSIC
low complexity region	770	783	N/A	INTRINSIC
low complexity region	784	812	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106069

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	28	152	4e-30	PFAM
Pfam:Reprolysin_5	194	372	9.6e-23	PFAM
Pfam:Reprolysin_4	194	385	1.6e-16	PFAM
Pfam:Reprolysin	196	395	2.2e-73	PFAM
Pfam:Reprolysin_2	215	385	2.9e-18	PFAM
Pfam:Reprolysin_3	219	340	6.6e-21	PFAM
DISIN	412	487	5.16e-36	SMART
ACR	488	607	2.15e-35	SMART
EGF	614	643	3.06e-1	SMART
transmembrane domain	661	683	N/A	INTRINSIC
low complexity region	733	763	N/A	INTRINSIC
low complexity region	771	784	N/A	INTRINSIC
low complexity region	785	813	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106069

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	28	152	4e-30	PFAM
Pfam:Reprolysin_5	194	372	9.6e-23	PFAM
Pfam:Reprolysin_4	194	385	1.6e-16	PFAM
Pfam:Reprolysin	196	395	2.2e-73	PFAM
Pfam:Reprolysin_2	215	385	2.9e-18	PFAM
Pfam:Reprolysin_3	219	340	6.6e-21	PFAM
DISIN	412	487	5.16e-36	SMART
ACR	488	607	2.15e-35	SMART
EGF	614	643	3.06e-1	SMART
transmembrane domain	661	683	N/A	INTRINSIC
low complexity region	733	763	N/A	INTRINSIC
low complexity region	771	784	N/A	INTRINSIC
low complexity region	785	813	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128332

Predicted Effect

probably null
Transcript: ENSMUST00000148670

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	151	1.8e-35	PFAM
Pfam:Reprolysin_5	193	371	3.6e-23	PFAM
Pfam:Reprolysin_4	193	384	6e-17	PFAM
Pfam:Reprolysin	195	394	8.2e-71	PFAM
Pfam:Reprolysin_2	214	384	5.8e-17	PFAM
Pfam:Reprolysin_3	218	339	1.7e-21	PFAM
DISIN	411	486	5.16e-36	SMART
ACR	487	612	2.21e-32	SMART
EGF	619	648	3.06e-1	SMART
transmembrane domain	666	688	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148670

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	151	1.8e-35	PFAM
Pfam:Reprolysin_5	193	371	3.6e-23	PFAM
Pfam:Reprolysin_4	193	384	6e-17	PFAM
Pfam:Reprolysin	195	394	8.2e-71	PFAM
Pfam:Reprolysin_2	214	384	5.8e-17	PFAM
Pfam:Reprolysin_3	218	339	1.7e-21	PFAM
DISIN	411	486	5.16e-36	SMART
ACR	487	612	2.21e-32	SMART
EGF	619	648	3.06e-1	SMART
transmembrane domain	666	688	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156647

Predicted Effect

probably benign
Transcript: ENSMUST00000173209

SMART Domains

Protein: ENSMUSP00000133673
Gene: ENSMUSG00000025473

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	31	45	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185038

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Adam family of proteins that contain the disintegrin and metalloprotease domains. The encoded protein is localized to the cell surface, where it is involved in the remodeling of extracellular matrix and cell migration. Mice lacking the encoded protein display persistent inflammation upon treatment with allergens. Alternative splicing of this gene results in multiple variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,016,964	V282A	probably benign	Het
Acsm5	A	G	7: 119,531,866	D169G	probably damaging	Het
Agpat1	T	C	17: 34,610,562	F37L	possibly damaging	Het
Asah2	A	T	19: 32,016,714	D410E	probably benign	Het
Atg2a	T	A	19: 6,246,800	V378D	probably benign	Het
Atp1a4	T	C	1: 172,254,885	Y130C	possibly damaging	Het
B020004J07Rik	T	C	4: 101,836,858	Y276C	probably benign	Het
Bnc2	T	C	4: 84,293,076	H419R	possibly damaging	Het
Capza3	A	G	6: 140,041,915	D80G	probably benign	Het
Col6a4	C	T	9: 106,068,078	D946N	probably benign	Het
Crat	T	C	2: 30,413,182	H31R	probably damaging	Het
Dsc2	A	G	18: 20,043,733	V419A	probably damaging	Het
Ebf1	T	C	11: 44,972,912	V363A	probably damaging	Het
Gm13119	A	G	4: 144,362,661	K183R	probably damaging	Het
Lcp2	T	C	11: 34,047,424	F24S	probably damaging	Het
Lgmn	G	A	12: 102,395,714	T376I	probably benign	Het
Lrrc8d	C	T	5: 105,811,864	L47F	probably benign	Het
Mier1	T	A	4: 103,131,062	M44K	possibly damaging	Het
Ogfod1	C	A	8: 94,062,987	Q439K	probably benign	Het
Olfr303	A	C	7: 86,395,078	I140S	possibly damaging	Het
Pcgf6	A	C	19: 47,047,982	F216C	probably damaging	Het
Pcnt	C	T	10: 76,389,474	R1732K	probably benign	Het
Rbbp4	A	T	4: 129,317,750	H370Q	probably damaging	Het
Reln	A	G	5: 21,904,731	V3127A	probably damaging	Het
Rttn	T	A	18: 89,042,231	V1019E	probably damaging	Het
Serpina9	C	T	12: 104,008,600	R98Q	probably benign	Het
Slc16a7	C	A	10: 125,230,798	G324V	probably damaging	Het
Slc22a3	A	G	17: 12,459,810	L209P	probably damaging	Het
Tet1	T	A	10: 62,813,734	T1695S	probably damaging	Het
Tulp3	G	A	6: 128,334,485	T74M	probably damaging	Het
Ube3a	A	G	7: 59,288,396		probably benign	Het
Ufl1	A	T	4: 25,281,686	S23T	probably benign	Het
Unc80	A	G	1: 66,608,428	E1509G	possibly damaging	Het
Wnk2	A	T	13: 49,056,940	I1801N	probably damaging	Het

Other mutations in Adam8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Adam8	APN	7	139987245	missense	probably damaging	1.00
IGL02044:Adam8	APN	7	139982822	missense	possibly damaging	0.85
IGL02257:Adam8	APN	7	139987648	missense	possibly damaging	0.88
IGL03101:Adam8	APN	7	139988543	missense	possibly damaging	0.56
R0320:Adam8	UTSW	7	139986442	missense	probably damaging	1.00
R0384:Adam8	UTSW	7	139986812	unclassified	probably benign
R1169:Adam8	UTSW	7	139983929	missense	probably benign	0.11
R1340:Adam8	UTSW	7	139991377	missense	probably damaging	0.99
R1699:Adam8	UTSW	7	139983311	missense	possibly damaging	0.72
R3725:Adam8	UTSW	7	139983868	missense	possibly damaging	0.63
R3874:Adam8	UTSW	7	139987607	missense	probably damaging	1.00
R4716:Adam8	UTSW	7	139983938	missense	probably benign	0.31
R4754:Adam8	UTSW	7	139984780	missense	possibly damaging	0.87
R4907:Adam8	UTSW	7	139989373	missense	probably benign	0.03
R5345:Adam8	UTSW	7	139987639	missense	probably benign	0.03
R5579:Adam8	UTSW	7	139988984	missense	probably benign	0.03
R5696:Adam8	UTSW	7	139989246	missense	probably benign	0.03
R5805:Adam8	UTSW	7	139985881	missense	probably damaging	1.00
R5948:Adam8	UTSW	7	139987884	missense	probably benign	0.07
R5991:Adam8	UTSW	7	139990287	missense	probably damaging	1.00
R6280:Adam8	UTSW	7	139984807	missense	probably damaging	0.99
R6456:Adam8	UTSW	7	139986788	missense	possibly damaging	0.96
R7098:Adam8	UTSW	7	139979499	missense	possibly damaging	0.53
R7105:Adam8	UTSW	7	139990055	missense	probably benign	0.00
R7334:Adam8	UTSW	7	139988990	missense	probably damaging	1.00
R7342:Adam8	UTSW	7	139986391	missense	probably benign	0.00
R7382:Adam8	UTSW	7	139990107	missense	possibly damaging	0.74
R7425:Adam8	UTSW	7	139992481	unclassified	probably benign
R7507:Adam8	UTSW	7	139987178	critical splice donor site	probably null
R7637:Adam8	UTSW	7	139985430	missense	probably damaging	0.98
R7904:Adam8	UTSW	7	139987678	missense	probably benign	0.17
R8024:Adam8	UTSW	7	139987576	missense	probably damaging	1.00
R8176:Adam8	UTSW	7	139988873	missense	probably benign	0.03
R8438:Adam8	UTSW	7	139985336	critical splice donor site	probably null
R8439:Adam8	UTSW	7	139987849	missense	probably benign	0.25
R9077:Adam8	UTSW	7	139987639	missense	probably benign	0.03
R9312:Adam8	UTSW	7	139985878	missense	probably damaging	1.00
R9346:Adam8	UTSW	7	139987721	missense	probably benign	0.00
R9566:Adam8	UTSW	7	139985372	missense	probably benign

Posted On

2015-04-16