Mutagenetix > Incidental Mutation

Incidental Mutation 'R7105:Adam8'

551112

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

045197-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139558845-139572475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139569968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 99 (E99G)

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: E98G

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

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: E98G

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: E99G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: E99G

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

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: E98G

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 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (65/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,347,842 (GRCm39)	I3565N	probably damaging	Het
Adnp2	A	C	18: 80,171,366 (GRCm39)	H1014Q	possibly damaging	Het
Agbl4	T	A	4: 111,423,920 (GRCm39)	N315K	probably benign	Het
Ankrd33b	G	T	15: 31,305,214 (GRCm39)	N183K	probably damaging	Het
Arhgef39	A	G	4: 43,498,913 (GRCm39)	S113P	possibly damaging	Het
Bdp1	G	A	13: 100,206,689 (GRCm39)	P618S	probably damaging	Het
Bhlhe40	C	T	6: 108,641,997 (GRCm39)	P314S	possibly damaging	Het
Birc2	A	C	9: 7,819,442 (GRCm39)	I490S	probably damaging	Het
Blm	T	C	7: 80,149,516 (GRCm39)	I698V	probably benign	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
Car12	A	G	9: 66,659,688 (GRCm39)	T238A	probably damaging	Het
Cend1	G	A	7: 141,007,565 (GRCm39)	P85L	probably benign	Het
Cftr	A	T	6: 18,318,971 (GRCm39)	D1337V	probably damaging	Het
Chsy3	T	A	18: 59,309,491 (GRCm39)	M248K	probably damaging	Het
Chtf8	A	G	8: 107,611,883 (GRCm39)	F352S	probably damaging	Het
Cimip4	T	A	15: 78,270,318 (GRCm39)	D150V	possibly damaging	Het
Csf2ra	T	C	19: 61,213,458 (GRCm39)	D384G	possibly damaging	Het
Ctnnbip1	T	C	4: 149,630,937 (GRCm39)	S59P	probably benign	Het
Cyth3	A	G	5: 143,693,027 (GRCm39)	N312D	probably benign	Het
Dtnb	T	C	12: 3,698,391 (GRCm39)		probably null	Het
Duox2	A	G	2: 122,120,033 (GRCm39)	S826P	possibly damaging	Het
Enthd1	C	T	15: 80,393,410 (GRCm39)	A273T	probably benign	Het
Gm3138	T	C	14: 15,632,304 (GRCm39)	V159A	possibly damaging	Het
Hhip	T	C	8: 80,701,638 (GRCm39)	D632G	probably benign	Het
Igfn1	A	T	1: 135,911,956 (GRCm39)	C114S	probably benign	Het
Islr2	T	C	9: 58,105,097 (GRCm39)	D765G	probably damaging	Het
Klf14	TCCCC	TCCC	6: 30,935,476 (GRCm39)		probably null	Het
Mapk12	G	A	15: 89,015,361 (GRCm39)	P362L	probably benign	Het
Msi1	T	G	5: 115,571,929 (GRCm39)	F96V	probably damaging	Het
Mthfd1l	T	C	10: 4,053,261 (GRCm39)	V870A	probably benign	Het
Nfat5	T	C	8: 108,095,823 (GRCm39)	S1355P	possibly damaging	Het
Oplah	T	C	15: 76,181,887 (GRCm39)	N1079D	probably damaging	Het
Or2ah1	G	T	2: 85,654,224 (GRCm39)	R303M	probably benign	Het
Osbpl1a	T	A	18: 12,900,020 (GRCm39)	I645F	probably benign	Het
Pank4	T	C	4: 155,064,624 (GRCm39)	S728P	probably benign	Het
Parp2	TTGCCATAAGTGCTAAATGAAGCC	T	14: 51,047,521 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,208,857 (GRCm39)	I2503T	unknown	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhs1	T	A	19: 56,465,647 (GRCm39)	F204Y	probably damaging	Het
Pramel26	T	C	4: 143,537,341 (GRCm39)	N330S	probably benign	Het
Pramel32	G	A	4: 88,548,339 (GRCm39)	S22F	probably damaging	Het
Prep	T	A	10: 45,002,159 (GRCm39)	I438N	probably benign	Het
Prss58	T	C	6: 40,874,700 (GRCm39)	H47R	probably damaging	Het
Rad51ap2	T	G	12: 11,508,278 (GRCm39)	D733E	possibly damaging	Het
Robo1	A	T	16: 72,539,049 (GRCm39)	I31F	probably damaging	Het
Setd2	A	G	9: 110,377,328 (GRCm39)	Y381C	probably damaging	Het
Slc47a2	A	G	11: 61,233,269 (GRCm39)	V87A	probably benign	Het
Slc5a9	T	C	4: 111,755,892 (GRCm39)	N2S	probably benign	Het
Spata13	A	G	14: 60,991,319 (GRCm39)	D1024G	probably damaging	Het
Stat1	T	G	1: 52,190,408 (GRCm39)	N554K	probably benign	Het
Suclg2	T	C	6: 95,572,635 (GRCm39)	D110G	possibly damaging	Het
Sult1c2	T	A	17: 54,280,917 (GRCm39)		probably null	Het
Taf5l	A	G	8: 124,729,951 (GRCm39)	I246T	probably damaging	Het
Tcof1	A	T	18: 60,976,368 (GRCm39)	D80E	probably damaging	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tshz3	A	G	7: 36,469,181 (GRCm39)	E390G	probably damaging	Het
Ttn	T	C	2: 76,560,610 (GRCm39)	T29264A	possibly damaging	Het
Ubr5	T	C	15: 38,009,019 (GRCm39)	T1065A		Het
Vcp	A	G	4: 42,985,991 (GRCm39)	V341A	probably damaging	Het
Vmn1r176	A	T	7: 23,534,748 (GRCm39)	L135*	probably null	Het
Vmn1r57	T	A	7: 5,223,499 (GRCm39)	I8N	probably damaging	Het
Ythdc2	C	T	18: 44,967,630 (GRCm39)	P209S	probably damaging	Het
Zfp213	A	T	17: 23,777,178 (GRCm39)	V288D	probably benign	Het
Zfp362	T	C	4: 128,668,319 (GRCm39)	I418V	probably damaging	Het
Zfp707	C	A	15: 75,846,595 (GRCm39)	T215K		Het
Zfp957	G	C	14: 79,450,402 (GRCm39)	R466G	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
R1699:Adam8	UTSW	7	139,563,224 (GRCm39)	missense	possibly damaging	0.72
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
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'- TTCTTTAAAATGGGGCTTCCTGC -3'
(R):5'- CTTGGGTAGATCTCTGAGTCCAG -3'

Sequencing Primer
(F):5'- CCTGGGTCTACAGTACATACCTGAG -3'
(R):5'- CCAGTGGGAAGTGTAGGCTC -3'

Posted On

2019-05-15