Mutagenetix > Incidental Mutation

Incidental Mutation 'R5579:Adam8'

438281

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

043267-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139978932-139992562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139988984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 201 (Y201F)

Ref Sequence

ENSEMBL: ENSMUSP00000101684 (fasta)

Gene Model

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

AlphaFold

Q05910

Predicted Effect

probably benign
Transcript: ENSMUST00000026546
AA Change: Y200F

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: Y200F

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
AA Change: Y201F

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: Y201F

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
AA Change: Y200F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: Y200F

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	C	3: 88,700,275 (GRCm38)	S345P	probably benign	Het
6430573F11Rik	T	C	8: 36,512,041 (GRCm38)	V266A	probably benign	Het
Abca3	G	T	17: 24,376,729 (GRCm38)	C352F	probably damaging	Het
Abce1	A	T	8: 79,700,586 (GRCm38)	I237N	possibly damaging	Het
Acrbp	A	G	6: 125,061,099 (GRCm38)	D421G	probably benign	Het
Adgrf1	T	A	17: 43,311,064 (GRCm38)	C731S	probably damaging	Het
AF067063	T	A	13: 119,828,415 (GRCm38)	M82L	probably benign	Het
Akap8l	A	T	17: 32,321,942 (GRCm38)	I529N	probably damaging	Het
Akap9	G	A	5: 4,064,714 (GRCm38)	G114D	possibly damaging	Het
Alox12b	T	A	11: 69,162,932 (GRCm38)	D158E	probably benign	Het
Ankrd11	A	G	8: 122,884,231 (GRCm38)	S2639P	probably damaging	Het
Ankrd42	T	C	7: 92,590,182 (GRCm38)	Y466C	possibly damaging	Het
Apobr	T	C	7: 126,587,675 (GRCm38)	I786T	probably benign	Het
Arhgef12	C	T	9: 43,010,193 (GRCm38)	G329R	probably benign	Het
Btnl1	T	C	17: 34,381,552 (GRCm38)		probably null	Het
Ccdc174	A	G	6: 91,881,350 (GRCm38)		probably null	Het
Ccdc183	T	C	2: 25,615,422 (GRCm38)	D177G	possibly damaging	Het
Cd14	A	G	18: 36,726,235 (GRCm38)	Y56H	probably benign	Het
Cep162	G	A	9: 87,203,671 (GRCm38)	A1200V	probably benign	Het
Clic3	T	C	2: 25,458,307 (GRCm38)	L128P	probably damaging	Het
Cntnap5b	A	T	1: 100,383,395 (GRCm38)	R538*	probably null	Het
Cntnap5b	A	T	1: 100,383,399 (GRCm38)	Q539L	probably benign	Het
Coq7	A	T	7: 118,517,335 (GRCm38)	N214K	unknown	Het
Cramp1l	G	A	17: 24,973,113 (GRCm38)	H1018Y	possibly damaging	Het
Crtac1	T	A	19: 42,304,806 (GRCm38)	D288V	probably damaging	Het
Dab2ip	C	T	2: 35,715,327 (GRCm38)	R132*	probably null	Het
Dis3l	C	A	9: 64,330,835 (GRCm38)	C125F	probably benign	Het
Dnmt1	A	T	9: 20,920,205 (GRCm38)	V543D	probably damaging	Het
Dock9	A	T	14: 121,599,695 (GRCm38)	L67Q	probably damaging	Het
Ehbp1	A	T	11: 22,137,846 (GRCm38)	S413T	probably damaging	Het
Endov	A	G	11: 119,505,097 (GRCm38)	I158V	probably benign	Het
Epb41l4b	A	G	4: 57,064,802 (GRCm38)	V469A	possibly damaging	Het
Etf1	G	A	18: 34,913,601 (GRCm38)	P119S	probably damaging	Het
Fam135a	A	G	1: 24,029,727 (GRCm38)	L491P	possibly damaging	Het
Fancd2	A	T	6: 113,560,051 (GRCm38)		probably null	Het
Fank1	T	A	7: 133,869,329 (GRCm38)		probably null	Het
Fbxo18	A	G	2: 11,748,993 (GRCm38)	I846T	probably damaging	Het
Gas2l3	T	C	10: 89,414,066 (GRCm38)	T397A	probably benign	Het
Gga1	T	C	15: 78,893,188 (GRCm38)	V513A	probably damaging	Het
Ggt1	T	C	10: 75,585,948 (GRCm38)	V543A	probably damaging	Het
Gm11596	A	T	11: 99,792,891 (GRCm38)	C134*	probably null	Het
Gnal	C	T	18: 67,088,771 (GRCm38)	R82C	unknown	Het
Hat1	T	C	2: 71,410,238 (GRCm38)	V92A	possibly damaging	Het
Icosl	C	T	10: 78,073,763 (GRCm38)	R181C	probably damaging	Het
Ift46	A	G	9: 44,786,863 (GRCm38)	M208V	possibly damaging	Het
Ighv1-26	T	C	12: 114,788,599 (GRCm38)	K42E	possibly damaging	Het
Ipo5	A	G	14: 120,938,613 (GRCm38)	K617E	probably benign	Het
Irx5	A	G	8: 92,359,913 (GRCm38)	D208G	probably benign	Het
Itgal	T	G	7: 127,306,929 (GRCm38)	V397G	probably benign	Het
Itpr2	G	A	6: 146,173,366 (GRCm38)	R2297*	probably null	Het
Itpr3	A	G	17: 27,113,519 (GRCm38)	D1779G	probably damaging	Het
Krt4	T	A	15: 101,921,234 (GRCm38)	E286D	probably benign	Het
Loxl4	C	T	19: 42,604,290 (GRCm38)	G317E	probably damaging	Het
Mapk6	T	G	9: 75,388,062 (GRCm38)	H718P	possibly damaging	Het
Mark2	A	C	19: 7,282,816 (GRCm38)	V14G	probably damaging	Het
Mbd5	A	G	2: 49,272,814 (GRCm38)	T1103A	possibly damaging	Het
Mcph1	A	G	8: 18,632,293 (GRCm38)	E482G	probably benign	Het
Mme	G	A	3: 63,348,645 (GRCm38)	E509K	probably damaging	Het
Mrgbp	A	G	2: 180,585,483 (GRCm38)	T204A	probably damaging	Het
Mycbp2	A	T	14: 103,291,333 (GRCm38)	F430I	probably damaging	Het
Myo6	A	G	9: 80,217,720 (GRCm38)	D27G	probably damaging	Het
Ncoa6	A	G	2: 155,406,677 (GRCm38)	L1569S	probably damaging	Het
Ndc1	T	A	4: 107,380,704 (GRCm38)	F235Y	possibly damaging	Het
Nmur2	A	T	11: 56,033,009 (GRCm38)	S240T	probably benign	Het
Olfr1176	A	T	2: 88,340,413 (GRCm38)	I283F	possibly damaging	Het
Olfr301	T	A	7: 86,412,726 (GRCm38)	Y121*	probably null	Het
Olfr608	G	A	7: 103,470,914 (GRCm38)	V292M	probably damaging	Het
Osbpl1a	A	C	18: 12,892,262 (GRCm38)	S333A	probably benign	Het
Osbpl1a	G	T	18: 12,841,192 (GRCm38)	A62E	probably damaging	Het
Otud4	C	T	8: 79,664,108 (GRCm38)	T417I	probably benign	Het
Pagr1a	T	C	7: 127,015,442 (GRCm38)	E197G	probably damaging	Het
Pcdh18	T	C	3: 49,744,977 (GRCm38)	Q1012R	probably damaging	Het
Pcdhgb5	A	C	18: 37,731,637 (GRCm38)	I162L	probably benign	Het
Pdpr	T	A	8: 111,123,816 (GRCm38)	Y462N	probably damaging	Het
Pkhd1	A	T	1: 20,523,142 (GRCm38)	H1582Q	probably damaging	Het
Polr1b	A	G	2: 129,110,108 (GRCm38)	K352R	probably damaging	Het
Poteg	G	A	8: 27,448,037 (GRCm38)	V12M	probably damaging	Het
Pou2f1	A	C	1: 165,915,162 (GRCm38)	V54G	probably damaging	Het
Ppme1	A	G	7: 100,344,975 (GRCm38)	L177P	probably damaging	Het
Prkce	A	G	17: 86,619,948 (GRCm38)	D550G	probably damaging	Het
Prrc2c	A	G	1: 162,680,758 (GRCm38)		probably null	Het
Ptpn22	A	G	3: 103,882,139 (GRCm38)		probably null	Het
Rabif	G	A	1: 134,506,205 (GRCm38)	V86M	probably damaging	Het
Rbm25	T	A	12: 83,668,507 (GRCm38)	M484K	probably benign	Het
Rcn2	G	A	9: 56,057,429 (GRCm38)	A224T	probably benign	Het
Rexo5	T	A	7: 119,834,403 (GRCm38)		probably null	Het
Rnase1	A	T	14: 51,145,762 (GRCm38)	I45N	probably benign	Het
Rnmt	T	A	18: 68,306,115 (GRCm38)	D98E	possibly damaging	Het
Rprd2	A	G	3: 95,785,059 (GRCm38)	F188L	probably damaging	Het
Scube2	G	A	7: 109,810,737 (GRCm38)	T643M	probably damaging	Het
Slc7a15	T	C	12: 8,539,344 (GRCm38)	I68V	probably benign	Het
Slco1a5	A	T	6: 142,242,125 (GRCm38)	V496D	possibly damaging	Het
Slitrk6	T	G	14: 110,751,217 (GRCm38)	S353R	possibly damaging	Het
Smpd5	T	A	15: 76,295,125 (GRCm38)	I53K	possibly damaging	Het
Tas2r108	T	C	6: 40,494,087 (GRCm38)	S166P	probably benign	Het
Tecpr1	C	A	5: 144,214,344 (GRCm38)	V245L	possibly damaging	Het
Tenm3	G	T	8: 48,236,764 (GRCm38)	N1929K	probably damaging	Het
Tigd5	T	G	15: 75,911,025 (GRCm38)	F412C	probably damaging	Het
Timm17a	A	T	1: 135,306,188 (GRCm38)	S74T	possibly damaging	Het
Tle1	A	T	4: 72,139,808 (GRCm38)	L60Q	probably damaging	Het
Tmem132d	T	C	5: 127,796,000 (GRCm38)	E515G	possibly damaging	Het
Tmem65	T	C	15: 58,794,397 (GRCm38)	N115S	probably benign	Het
Trmt5	C	A	12: 73,281,652 (GRCm38)	R259L	possibly damaging	Het
Ttc37	T	C	13: 76,185,200 (GRCm38)	W25R	probably damaging	Het
Vmn2r50	A	T	7: 10,050,089 (GRCm38)	W153R	probably benign	Het
Vwa3a	T	G	7: 120,768,173 (GRCm38)	S184A	probably benign	Het
Zbtb25	A	G	12: 76,349,164 (GRCm38)	L428P	possibly damaging	Het
Zbtb49	C	T	5: 38,200,816 (GRCm38)	D698N	probably damaging	Het
Zbtb8os	T	G	4: 129,340,735 (GRCm38)	D35E	probably damaging	Het
Zfp316	T	C	5: 143,264,491 (GRCm38)	T56A	unknown	Het
Zfp334	A	T	2: 165,380,487 (GRCm38)	C545*	probably null	Het
Zmiz1	C	A	14: 25,644,856 (GRCm38)	S247R	probably damaging	Het
Zscan18	A	G	7: 12,775,381 (GRCm38)		probably benign	Het
Zzef1	T	C	11: 72,900,637 (GRCm38)	V2189A	probably damaging	Het

Other mutations in Adam8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Adam8	APN	7	139,987,245 (GRCm38)	missense	probably damaging	1.00
IGL02044:Adam8	APN	7	139,982,822 (GRCm38)	missense	possibly damaging	0.85
IGL02228:Adam8	APN	7	139,988,806 (GRCm38)	splice site	probably null
IGL02257:Adam8	APN	7	139,987,648 (GRCm38)	missense	possibly damaging	0.88
IGL03101:Adam8	APN	7	139,988,543 (GRCm38)	missense	possibly damaging	0.56
R0320:Adam8	UTSW	7	139,986,442 (GRCm38)	missense	probably damaging	1.00
R0384:Adam8	UTSW	7	139,986,812 (GRCm38)	unclassified	probably benign
R1169:Adam8	UTSW	7	139,983,929 (GRCm38)	missense	probably benign	0.11
R1340:Adam8	UTSW	7	139,991,377 (GRCm38)	missense	probably damaging	0.99
R1699:Adam8	UTSW	7	139,983,311 (GRCm38)	missense	possibly damaging	0.72
R3725:Adam8	UTSW	7	139,983,868 (GRCm38)	missense	possibly damaging	0.63
R3874:Adam8	UTSW	7	139,987,607 (GRCm38)	missense	probably damaging	1.00
R4716:Adam8	UTSW	7	139,983,938 (GRCm38)	missense	probably benign	0.31
R4754:Adam8	UTSW	7	139,984,780 (GRCm38)	missense	possibly damaging	0.87
R4907:Adam8	UTSW	7	139,989,373 (GRCm38)	missense	probably benign	0.03
R5345:Adam8	UTSW	7	139,987,639 (GRCm38)	missense	probably benign	0.03
R5696:Adam8	UTSW	7	139,989,246 (GRCm38)	missense	probably benign	0.03
R5805:Adam8	UTSW	7	139,985,881 (GRCm38)	missense	probably damaging	1.00
R5948:Adam8	UTSW	7	139,987,884 (GRCm38)	missense	probably benign	0.07
R5991:Adam8	UTSW	7	139,990,287 (GRCm38)	missense	probably damaging	1.00
R6280:Adam8	UTSW	7	139,984,807 (GRCm38)	missense	probably damaging	0.99
R6456:Adam8	UTSW	7	139,986,788 (GRCm38)	missense	possibly damaging	0.96
R7098:Adam8	UTSW	7	139,979,499 (GRCm38)	missense	possibly damaging	0.53
R7105:Adam8	UTSW	7	139,990,055 (GRCm38)	missense	probably benign	0.00
R7334:Adam8	UTSW	7	139,988,990 (GRCm38)	missense	probably damaging	1.00
R7342:Adam8	UTSW	7	139,986,391 (GRCm38)	missense	probably benign	0.00
R7382:Adam8	UTSW	7	139,990,107 (GRCm38)	missense	possibly damaging	0.74
R7425:Adam8	UTSW	7	139,992,481 (GRCm38)	unclassified	probably benign
R7507:Adam8	UTSW	7	139,987,178 (GRCm38)	critical splice donor site	probably null
R7637:Adam8	UTSW	7	139,985,430 (GRCm38)	missense	probably damaging	0.98
R7904:Adam8	UTSW	7	139,987,678 (GRCm38)	missense	probably benign	0.17
R8024:Adam8	UTSW	7	139,987,576 (GRCm38)	missense	probably damaging	1.00
R8176:Adam8	UTSW	7	139,988,873 (GRCm38)	missense	probably benign	0.03
R8438:Adam8	UTSW	7	139,985,336 (GRCm38)	critical splice donor site	probably null
R8439:Adam8	UTSW	7	139,987,849 (GRCm38)	missense	probably benign	0.25
R9077:Adam8	UTSW	7	139,987,639 (GRCm38)	missense	probably benign	0.03
R9312:Adam8	UTSW	7	139,985,878 (GRCm38)	missense	probably damaging	1.00
R9346:Adam8	UTSW	7	139,987,721 (GRCm38)	missense	probably benign	0.00
R9566:Adam8	UTSW	7	139,985,372 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCACTGTCAGCACACCTGG -3'
(R):5'- ATAGGCATGGCTCTCTGTAGCC -3'

Sequencing Primer
(F):5'- CGACCCACCTTGTCCACG -3'
(R):5'- TCTCTGTAGCCCTGAAGCAAG -3'

Posted On

2016-10-26