Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Adam8'

101489

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

039242-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1169 (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 139563842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 715 (L715Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101684 (fasta)

Gene Model

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

AlphaFold

Q05910

Predicted Effect

probably benign
Transcript: ENSMUST00000026546
AA Change: L714Q

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: L714Q

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: L715Q

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: L715Q

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

noncoding transcript
Transcript: ENSMUST00000132903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139218

Predicted Effect

probably benign
Transcript: ENSMUST00000148670
AA Change: L720Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: L720Q

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: ENSMUST00000185038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156647

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,419,781 (GRCm39)	E275G	probably damaging	Het
Adam10	T	A	9: 70,653,574 (GRCm39)	I123N	probably damaging	Het
Adcyap1r1	T	A	6: 55,471,101 (GRCm39)	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,508,401 (GRCm39)	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468 (GRCm38)	S389P	possibly damaging	Het
C4b	A	T	17: 34,961,946 (GRCm39)	L100Q	probably benign	Het
Cacul1	G	A	19: 60,568,846 (GRCm39)	A104V	probably damaging	Het
Camsap3	T	C	8: 3,653,866 (GRCm39)	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454 (GRCm39)	V61A	possibly damaging	Het
Cfap251	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,392,673 (GRCm39)		probably benign	Het
Chd1	T	A	17: 15,955,994 (GRCm39)	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,651,758 (GRCm39)	Q156*	probably null	Het
Clip2	T	A	5: 134,521,104 (GRCm39)	E978V	probably benign	Het
Cnpy2	T	G	10: 128,159,465 (GRCm39)	L34R	probably damaging	Het
Cog6	A	T	3: 52,921,265 (GRCm39)	C114S	probably benign	Het
Col6a3	A	T	1: 90,749,736 (GRCm39)	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,774,173 (GRCm39)		probably null	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Dmbt1	G	A	7: 130,676,254 (GRCm39)		probably null	Het
Dok1	A	G	6: 83,009,029 (GRCm39)	F218L	possibly damaging	Het
Dph7	T	A	2: 24,856,583 (GRCm39)	N178K	probably benign	Het
Enam	A	T	5: 88,651,117 (GRCm39)	E800D	probably damaging	Het
Fads3	A	T	19: 10,031,463 (GRCm39)	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,240,433 (GRCm39)	H265R	probably benign	Het
Gli1	T	A	10: 127,174,320 (GRCm39)	S24C	probably damaging	Het
Gm4894	T	A	9: 49,185,526 (GRCm39)	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,431,563 (GRCm39)	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,552,331 (GRCm39)	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,499,161 (GRCm39)	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,432,419 (GRCm39)	F285C	probably benign	Het
Igf1r	G	T	7: 67,814,875 (GRCm39)	V259L	probably benign	Het
Igf2bp2	A	T	16: 21,897,480 (GRCm39)	Y244*	probably null	Het
Ighg2c	A	T	12: 113,249,572 (GRCm39)		probably benign	Het
Ighv8-14	A	T	12: 115,772,075 (GRCm39)		probably null	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itsn2	A	G	12: 4,689,694 (GRCm39)	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,420,495 (GRCm39)	E38D	possibly damaging	Het
Krt42	T	G	11: 100,154,171 (GRCm39)		probably null	Het
Lpo	T	C	11: 87,708,143 (GRCm39)	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,736,764 (GRCm39)	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,302,240 (GRCm39)	D99V	probably damaging	Het
Lyplal1	T	C	1: 185,846,531 (GRCm39)	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,190,057 (GRCm39)	Q793*	probably null	Het
Myh10	T	G	11: 68,653,667 (GRCm39)	M346R	probably damaging	Het
Nav1	G	T	1: 135,382,943 (GRCm39)	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,875,744 (GRCm39)	V1642A	probably benign	Het
Or4d6	C	T	19: 12,086,853 (GRCm39)	R19H	probably benign	Het
Or8b12i	T	C	9: 20,082,354 (GRCm39)	N171S	probably benign	Het
Or8i2	A	G	2: 86,852,061 (GRCm39)	F276L	probably damaging	Het
Or8k28	A	G	2: 86,285,931 (GRCm39)	I228T	possibly damaging	Het
Orm3	G	A	4: 63,276,085 (GRCm39)	V166M	probably damaging	Het
Oxct1	T	A	15: 4,120,708 (GRCm39)	I264N	probably damaging	Het
Paox	G	A	7: 139,706,244 (GRCm39)	V55I	probably benign	Het
Pde4d	C	A	13: 110,087,462 (GRCm39)		probably null	Het
Pnliprp1	A	G	19: 58,723,383 (GRCm39)	N258S	probably damaging	Het
Potegl	A	G	2: 23,146,994 (GRCm39)	K275E	possibly damaging	Het
Prl7b1	C	A	13: 27,790,887 (GRCm39)	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,269,341 (GRCm39)	C261F	probably benign	Het
Rho	C	G	6: 115,909,199 (GRCm39)	N78K	probably damaging	Het
Rnf17	A	G	14: 56,751,622 (GRCm39)	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,563,359 (GRCm39)	T2922I	probably benign	Het
Saxo2	A	C	7: 82,284,379 (GRCm39)	F160V	possibly damaging	Het
Sbf2	A	T	7: 109,909,391 (GRCm39)	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,446,092 (GRCm39)	V280E	probably benign	Het
Sgsm1	T	C	5: 113,427,351 (GRCm39)	D90G	probably damaging	Het
Siglec1	A	T	2: 130,916,747 (GRCm39)	D1169E	probably damaging	Het
Sim1	T	A	10: 50,857,618 (GRCm39)	V456E	probably benign	Het
Skint8	T	A	4: 111,785,710 (GRCm39)	I52N	possibly damaging	Het
Slc27a1	C	A	8: 72,033,297 (GRCm39)	R280S	probably benign	Het
Slc9a3	G	A	13: 74,298,862 (GRCm39)	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,185,269 (GRCm39)	V936L	possibly damaging	Het
Syce1	A	G	7: 140,358,120 (GRCm39)	F255S	probably benign	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem200a	T	A	10: 25,870,246 (GRCm39)	I8F	probably damaging	Het
Trip6	T	C	5: 137,310,182 (GRCm39)	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,400,517 (GRCm39)	N177K	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
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
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

Posted On

2014-01-15