Mutagenetix > Incidental Mutations

Incidental Mutation 'R0384:Adam8'

31174

Institutional Source

Beutler Lab

Gene Symbol

Adam8

Ensembl Gene

ENSMUSG00000025473

Gene Name

a disintegrin and metallopeptidase domain 8

Synonyms

CD156, MS2, E430039A18Rik, CD156a

MMRRC Submission

038590-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139978932-139992562 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 139986812 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133673 (fasta)

Gene Model

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

Predicted Effect

probably benign
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 benign
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 benign
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

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	T	C	6: 34,364,330		probably benign	Het
Arhgef39	A	G	4: 43,498,613	L117P	probably damaging	Het
Atp13a1	A	T	8: 69,797,324	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,031,125		probably benign	Het
Ccdc141	A	G	2: 77,027,648	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,999,162	Y568H	probably benign	Het
Crabp2	T	C	3: 87,953,021	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,172,741	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,585,885	H106R	probably benign	Het
Dcps	T	C	9: 35,175,943	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,598,956	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,720,114	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 78,052,737	I158F	possibly damaging	Het
Dock3	A	G	9: 106,901,895		probably benign	Het
Eefsec	A	G	6: 88,281,650		probably null	Het
Fam204a	T	C	19: 60,221,296	M1V	probably null	Het
Fam98b	T	C	2: 117,267,847	V266A	possibly damaging	Het
Fat2	A	T	11: 55,269,465	I3274N	possibly damaging	Het
Fbxo18	A	G	2: 11,749,578	I198T	probably damaging	Het
Fer	T	C	17: 63,924,184		probably benign	Het
Fhad1	T	A	4: 142,002,426	M89L	probably benign	Het
Fjx1	C	A	2: 102,451,107	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,665,824		probably benign	Het
Gm42669	T	A	5: 107,508,798	C976S	probably benign	Het
Gm4845	T	C	1: 141,257,085		noncoding transcript	Het
Herc1	T	A	9: 66,481,050		probably benign	Het
Hook3	C	T	8: 26,044,235		probably null	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Itga2b	A	T	11: 102,465,362		probably null	Het
Klk1b21	T	C	7: 44,105,493	Y71H	probably benign	Het
Kndc1	A	T	7: 139,910,599	N339I	possibly damaging	Het
Ky	C	T	9: 102,542,090	T432I	probably benign	Het
Map4	C	T	9: 110,034,628	T307I	probably damaging	Het
Matn1	T	C	4: 130,944,476	L18P	probably benign	Het
Mindy4	G	A	6: 55,216,684	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Msto1	G	A	3: 88,910,339	Q441*	probably null	Het
Muc5ac	A	G	7: 141,812,251	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711	*879Q	probably null	Het
Nat8f2	T	C	6: 85,868,368	Y4C	possibly damaging	Het
Ncaph2	T	A	15: 89,369,391	I282N	probably benign	Het
Nid1	A	G	13: 13,463,836	T114A	probably benign	Het
Npr1	C	A	3: 90,465,167	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,208,347	P193S	probably damaging	Het
Nwd2	T	C	5: 63,805,682	F870L	probably benign	Het
Olfr1076	T	A	2: 86,509,383	I308K	possibly damaging	Het
Olfr1228	A	G	2: 89,249,070	I208T	possibly damaging	Het
Olfr55	A	G	17: 33,176,548	I45V	probably damaging	Het
Olfr787	T	A	10: 129,463,040	Y121*	probably null	Het
Phf14	A	G	6: 11,997,020		probably benign	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prdm2	T	C	4: 143,135,688	E344G	probably benign	Het
Psmd12	T	C	11: 107,485,721	V61A	probably benign	Het
Relt	T	C	7: 100,847,505	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scg2	T	A	1: 79,435,549	I446F	probably benign	Het
Sema3b	G	A	9: 107,600,966	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600	Y601*	probably null	Het
Sun5	C	T	2: 153,858,965	V270I	probably benign	Het
Tex52	A	G	6: 128,379,533	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,574,822		probably benign	Het
Tnpo3	A	G	6: 29,582,164		probably null	Het
Tspoap1	A	T	11: 87,766,454	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,763,947	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 26,267,651	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,223,912	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,471,843	Y842F	probably benign	Het
Vps8	T	A	16: 21,506,825		probably benign	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
IGL02228:Adam8	APN	7	139988806	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GATGACTCGAAACAGAGCAGACTCC -3'
(R):5'- AGATGCCTTCCAACAGAATGGCAC -3'

Sequencing Primer
(F):5'- CCTCACAGAGCAGGTCTTC -3'
(R):5'- CAGAATGGCACTCCCTGC -3'

Posted On

2013-04-24