Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Adam8'

192518

Institutional Source

Beutler Lab

Gene Symbol

Adam8

Ensembl Gene

ENSMUSG00000025473

Gene Name

a disintegrin and metallopeptidase domain 8

Synonyms

E430039A18Rik, CD156a, CD156, MS2

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139558845-139572475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139563224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 767 (N767K)

Ref Sequence

ENSEMBL: ENSMUSP00000101684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026546] [ENSMUST00000097970] [ENSMUST00000106069] [ENSMUST00000121412] [ENSMUST00000210254] [ENSMUST00000209335] [ENSMUST00000148670]

AlphaFold

Q05910

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026546
AA Change: N766K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: N766K

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: ENSMUST00000097970

SMART Domains

Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795

Domain	Start	End	E-Value	Type
Pfam:CH_2	22	118	3e-35	PFAM
Pfam:CAMSAP_CH	23	105	1.2e-21	PFAM
coiled coil region	237	276	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106069
AA Change: N767K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: N767K

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 benign
Transcript: ENSMUST00000121412

SMART Domains

Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795

Domain	Start	End	E-Value	Type
Pfam:DUF1042	22	153	4.5e-35	PFAM
Pfam:CAMSAP_CH	23	105	1.3e-20	PFAM
low complexity region	230	246	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139218

Predicted Effect

probably benign
Transcript: ENSMUST00000210254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149915

Predicted Effect

probably benign
Transcript: ENSMUST00000209335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146974

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,337,363 (GRCm39)	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,454,205 (GRCm39)	F341I	probably benign	Het
Aig1	T	C	10: 13,744,366 (GRCm39)	D46G	possibly damaging	Het
Alms1	A	G	6: 85,599,862 (GRCm39)	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,789,204 (GRCm39)	I264V	probably benign	Het
Areg	T	G	5: 91,291,357 (GRCm39)	V100G	probably damaging	Het
Bcan	A	G	3: 87,896,543 (GRCm39)	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,539,200 (GRCm39)	I188N	probably damaging	Het
Cdt1	T	C	8: 123,296,722 (GRCm39)	Y203H	probably damaging	Het
Cfap119	A	T	7: 127,186,028 (GRCm39)		probably null	Het
Chil3	A	C	3: 106,067,682 (GRCm39)		probably null	Het
Ciao2b	A	G	8: 105,366,718 (GRCm39)	V132A	probably damaging	Het
Cimip2c	A	G	5: 30,641,210 (GRCm39)		probably null	Het
Cth	A	G	3: 157,613,073 (GRCm39)	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,712,666 (GRCm39)	F132L	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,154,603 (GRCm39)	S226P	probably damaging	Het
Egfr	A	T	11: 16,809,019 (GRCm39)	Q71L	probably benign	Het
Eml6	T	A	11: 29,696,282 (GRCm39)	K1940*	probably null	Het
Epn2	T	A	11: 61,414,014 (GRCm39)	K391*	probably null	Het
Erich1	A	T	8: 14,140,259 (GRCm39)	S2T	possibly damaging	Het
Evi5	A	C	5: 107,966,786 (GRCm39)	L245R	probably damaging	Het
Evpl	T	C	11: 116,118,414 (GRCm39)	Y731C	probably damaging	Het
Exoc3l	G	A	8: 106,021,645 (GRCm39)	H128Y	probably benign	Het
Extl1	G	A	4: 134,091,894 (GRCm39)	Q320*	probably null	Het
Fam91a1	T	A	15: 58,304,797 (GRCm39)	S416T	probably benign	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fer1l4	A	G	2: 155,871,605 (GRCm39)	F1392L	probably benign	Het
Fstl4	T	C	11: 53,059,005 (GRCm39)	I488T	possibly damaging	Het
Gak	A	T	5: 108,752,243 (GRCm39)	Y338*	probably null	Het
Garin4	T	A	1: 190,896,018 (GRCm39)	E208D	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Glrb	G	A	3: 80,769,081 (GRCm39)	T180I	probably damaging	Het
Gm10118	C	T	10: 63,762,671 (GRCm39)		probably benign	Het
Gpr19	A	T	6: 134,847,192 (GRCm39)	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,811,716 (GRCm39)	N740K	probably damaging	Het
Gstk1	A	T	6: 42,223,535 (GRCm39)	T42S	probably benign	Het
Hoxd1	G	A	2: 74,594,626 (GRCm39)	A294T	probably benign	Het
Hspg2	T	A	4: 137,275,323 (GRCm39)		probably null	Het
Ift74	A	T	4: 94,573,940 (GRCm39)	N472I	probably benign	Het
Il1a	C	T	2: 129,144,813 (GRCm39)	D202N	probably damaging	Het
Islr	T	C	9: 58,064,778 (GRCm39)	D243G	probably damaging	Het
Kif21a	C	T	15: 90,843,946 (GRCm39)	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,876,852 (GRCm39)	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,075,974 (GRCm39)	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,297,416 (GRCm39)	*247Q	probably null	Het
Megf10	T	C	18: 57,410,802 (GRCm39)		probably null	Het
Mettl2	T	A	11: 105,030,544 (GRCm39)	H373Q	probably benign	Het
Mocos	A	G	18: 24,816,273 (GRCm39)	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,053,761 (GRCm39)	I115T	probably damaging	Het
Ndst1	T	C	18: 60,828,580 (GRCm39)	Y658C	probably damaging	Het
Nin	G	A	12: 70,077,712 (GRCm39)	A1031V	probably benign	Het
Nin	C	A	12: 70,092,337 (GRCm39)	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,797,713 (GRCm39)	R344*	probably null	Het
Notch2	T	C	3: 98,052,443 (GRCm39)	S1980P	probably damaging	Het
Npat	C	T	9: 53,473,960 (GRCm39)	S584L	probably benign	Het
Nphp4	A	G	4: 152,581,121 (GRCm39)	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,472,642 (GRCm39)	N51S	possibly damaging	Het
Or2n1e	A	G	17: 38,585,932 (GRCm39)	K90R	probably benign	Het
Or2y16	T	A	11: 49,335,116 (GRCm39)	I146N	possibly damaging	Het
Or5al1	T	C	2: 85,990,280 (GRCm39)	I145V	probably benign	Het
Or5w22	A	G	2: 87,362,427 (GRCm39)	T17A	probably benign	Het
Pced1b	T	A	15: 97,282,758 (GRCm39)	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,507,422 (GRCm39)	V378A	probably damaging	Het
Pde8b	T	A	13: 95,169,374 (GRCm39)	K683N	probably damaging	Het
Pfas	T	G	11: 68,888,872 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plcd4	T	G	1: 74,587,394 (GRCm39)	S51R	probably benign	Het
Plekhh2	T	A	17: 84,884,612 (GRCm39)	Y775*	probably null	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,163,765 (GRCm39)	T47I	possibly damaging	Het
Pter	A	T	2: 12,999,572 (GRCm39)	D169V	probably damaging	Het
Ptpn12	A	G	5: 21,203,168 (GRCm39)	S537P	probably benign	Het
Ptpru	T	A	4: 131,506,361 (GRCm39)	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,229,350 (GRCm39)	D67E	probably damaging	Het
Rfc4	T	C	16: 22,932,983 (GRCm39)	E318G	probably benign	Het
Samd13	C	A	3: 146,368,469 (GRCm39)	R41L	probably benign	Het
Shoc1	T	C	4: 59,113,926 (GRCm39)	K13R	unknown	Het
Slc6a2	T	C	8: 93,699,440 (GRCm39)	I156T	possibly damaging	Het
Spag16	T	C	1: 70,036,015 (GRCm39)	F348L	probably benign	Het
Spag4	T	C	2: 155,907,342 (GRCm39)	Y21H	probably damaging	Het
Stam2	G	A	2: 52,593,187 (GRCm39)	A368V	possibly damaging	Het
Stc1	A	T	14: 69,275,776 (GRCm39)	M190L	probably benign	Het
Stxbp1	A	G	2: 32,690,629 (GRCm39)	L475P	probably damaging	Het
Syn3	A	T	10: 85,916,075 (GRCm39)	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,056,219 (GRCm39)	T251K	probably benign	Het
Tbpl2	A	T	2: 23,985,057 (GRCm39)	M29K	probably benign	Het
Tead3	T	G	17: 28,553,698 (GRCm39)	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 61,049,977 (GRCm39)	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400 (GRCm39)	M124T	probably benign	Het
Ttyh1	T	A	7: 4,122,695 (GRCm39)	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,374 (GRCm39)	W449*	probably null	Het
Txndc11	A	G	16: 10,905,639 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,296,024 (GRCm39)	D2615E	probably damaging	Het
Vars1	A	G	17: 35,233,734 (GRCm39)	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,509,951 (GRCm39)	I542T	probably benign	Het
Vwf	A	G	6: 125,620,032 (GRCm39)	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,662,863 (GRCm39)	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,406,115 (GRCm39)	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,268,879 (GRCm39)	T179I	probably damaging	Het
Zfp599	T	C	9: 22,161,700 (GRCm39)	Y155C	probably benign	Het

Other mutations in Adam8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Adam8	APN	7	139,567,158 (GRCm39)	missense	probably damaging	1.00
IGL02044:Adam8	APN	7	139,562,735 (GRCm39)	missense	possibly damaging	0.85
IGL02228:Adam8	APN	7	139,568,719 (GRCm39)	splice site	probably null
IGL02257:Adam8	APN	7	139,567,561 (GRCm39)	missense	possibly damaging	0.88
IGL03101:Adam8	APN	7	139,568,456 (GRCm39)	missense	possibly damaging	0.56
R0320:Adam8	UTSW	7	139,566,355 (GRCm39)	missense	probably damaging	1.00
R0384:Adam8	UTSW	7	139,566,725 (GRCm39)	unclassified	probably benign
R1169:Adam8	UTSW	7	139,563,842 (GRCm39)	missense	probably benign	0.11
R1340:Adam8	UTSW	7	139,571,290 (GRCm39)	missense	probably damaging	0.99
R3725:Adam8	UTSW	7	139,563,781 (GRCm39)	missense	possibly damaging	0.63
R3874:Adam8	UTSW	7	139,567,520 (GRCm39)	missense	probably damaging	1.00
R4716:Adam8	UTSW	7	139,563,851 (GRCm39)	missense	probably benign	0.31
R4754:Adam8	UTSW	7	139,564,693 (GRCm39)	missense	possibly damaging	0.87
R4907:Adam8	UTSW	7	139,569,286 (GRCm39)	missense	probably benign	0.03
R5345:Adam8	UTSW	7	139,567,552 (GRCm39)	missense	probably benign	0.03
R5579:Adam8	UTSW	7	139,568,897 (GRCm39)	missense	probably benign	0.03
R5696:Adam8	UTSW	7	139,569,159 (GRCm39)	missense	probably benign	0.03
R5805:Adam8	UTSW	7	139,565,794 (GRCm39)	missense	probably damaging	1.00
R5948:Adam8	UTSW	7	139,567,797 (GRCm39)	missense	probably benign	0.07
R5991:Adam8	UTSW	7	139,570,200 (GRCm39)	missense	probably damaging	1.00
R6280:Adam8	UTSW	7	139,564,720 (GRCm39)	missense	probably damaging	0.99
R6456:Adam8	UTSW	7	139,566,701 (GRCm39)	missense	possibly damaging	0.96
R7098:Adam8	UTSW	7	139,559,412 (GRCm39)	missense	possibly damaging	0.53
R7105:Adam8	UTSW	7	139,569,968 (GRCm39)	missense	probably benign	0.00
R7334:Adam8	UTSW	7	139,568,903 (GRCm39)	missense	probably damaging	1.00
R7342:Adam8	UTSW	7	139,566,304 (GRCm39)	missense	probably benign	0.00
R7382:Adam8	UTSW	7	139,570,020 (GRCm39)	missense	possibly damaging	0.74
R7425:Adam8	UTSW	7	139,572,394 (GRCm39)	unclassified	probably benign
R7507:Adam8	UTSW	7	139,567,091 (GRCm39)	critical splice donor site	probably null
R7637:Adam8	UTSW	7	139,565,343 (GRCm39)	missense	probably damaging	0.98
R7904:Adam8	UTSW	7	139,567,591 (GRCm39)	missense	probably benign	0.17
R8024:Adam8	UTSW	7	139,567,489 (GRCm39)	missense	probably damaging	1.00
R8176:Adam8	UTSW	7	139,568,786 (GRCm39)	missense	probably benign	0.03
R8438:Adam8	UTSW	7	139,565,249 (GRCm39)	critical splice donor site	probably null
R8439:Adam8	UTSW	7	139,567,762 (GRCm39)	missense	probably benign	0.25
R9077:Adam8	UTSW	7	139,567,552 (GRCm39)	missense	probably benign	0.03
R9312:Adam8	UTSW	7	139,565,791 (GRCm39)	missense	probably damaging	1.00
R9346:Adam8	UTSW	7	139,567,634 (GRCm39)	missense	probably benign	0.00
R9566:Adam8	UTSW	7	139,565,285 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAATCAAGGCTGTCTCCTTACCTGC -3'
(R):5'- GCTTCTTAACTGAGGAATGGGCTGC -3'

Sequencing Primer
(F):5'- gctgccttcagacactcc -3'
(R):5'- CTAGCCTAGAGAGAACAGGAAAG -3'

Posted On

2014-05-14