Mutagenetix > Incidental Mutation

Incidental Mutation 'R4793:Adam17'

368790

Institutional Source

Beutler Lab

Gene Symbol

Adam17

Ensembl Gene

ENSMUSG00000052593

Gene Name

a disintegrin and metallopeptidase domain 17

Synonyms

CD156b, Tace

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R4793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21373510-21423633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21397396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 219 (N219D)

Ref Sequence

ENSEMBL: ENSMUSP00000136407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064536] [ENSMUST00000101551] [ENSMUST00000127974] [ENSMUST00000142092] [ENSMUST00000145118] [ENSMUST00000232107] [ENSMUST00000232526]

AlphaFold

Q9Z0F8

Predicted Effect

probably benign
Transcript: ENSMUST00000064536
AA Change: N219D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593
AA Change: N219D

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	28	167	1.1e-11	PFAM
Pfam:Reprolysin_5	221	451	6.7e-37	PFAM
Pfam:Reprolysin_4	221	469	3.2e-24	PFAM
Pfam:Reprolysin_2	244	464	8.8e-29	PFAM
Pfam:Reprolysin_3	248	416	1.2e-12	PFAM
Pfam:Reprolysin	383	474	3.1e-9	PFAM
DISIN	484	561	6.27e-26	SMART
PDB:2M2F\|A	581	642	4e-32	PDB
transmembrane domain	672	694	N/A	INTRINSIC
low complexity region	739	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101551
AA Change: N219D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593
AA Change: N219D

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	167	9.7e-15	PFAM
Pfam:Reprolysin_5	221	470	5e-34	PFAM
Pfam:Reprolysin_4	221	488	6.1e-20	PFAM
Pfam:Reprolysin_2	264	483	2.6e-34	PFAM
Pfam:Reprolysin_3	267	435	2.8e-14	PFAM
Pfam:Reprolysin	330	493	5.3e-9	PFAM
DISIN	503	580	6.27e-26	SMART
Pfam:ADAM17_MPD	600	661	1e-23	PFAM
transmembrane domain	691	713	N/A	INTRINSIC
low complexity region	758	774	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127974

SMART Domains

Protein: ENSMUSP00000136677
Gene: ENSMUSG00000052593

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	25	167	9.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142092

SMART Domains

Protein: ENSMUSP00000136255
Gene: ENSMUSG00000052593

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145118
AA Change: N219D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593
AA Change: N219D

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	28	167	7.5e-12	PFAM
Pfam:Reprolysin_5	221	451	4.2e-37	PFAM
Pfam:Reprolysin_4	221	469	2e-24	PFAM
Pfam:Reprolysin_2	244	464	5.6e-29	PFAM
Pfam:Reprolysin_3	248	416	7.8e-13	PFAM
Pfam:Reprolysin	381	474	2.2e-9	PFAM
DISIN	484	561	6.27e-26	SMART
PDB:2M2F\|A	581	638	5e-29	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155115

Predicted Effect

probably benign
Transcript: ENSMUST00000232107

Predicted Effect

probably benign
Transcript: ENSMUST00000232526

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero or fail to survive beyond one week of age. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Most mice homozygous for targeted mutations that inactivate the gene die perinatally with stunted vibrissae and open eyelids. Survivors display various degrees of eye degeneration, perturbed hair coats, curly vibrissae, and irregular pigmentation patterns. Histological analysis of fetuses reveal defects in epithelial cell maturation and organization in multiple organs. [provided by MGI curators]

Allele List at MGI

All alleles(13) : Targeted, knock-out(2) Targeted, other(3) Gene trapped(8)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,082,544 (GRCm39)	E1143V	probably benign	Het
Abi2	T	A	1: 60,448,963 (GRCm39)	M1K	probably null	Het
Acp2	T	C	2: 91,037,134 (GRCm39)	F205L	probably benign	Het
Aldh2	T	C	5: 121,707,042 (GRCm39)	S168G	probably damaging	Het
Arhgap15	A	T	2: 44,032,353 (GRCm39)	E312D	probably damaging	Het
Calm5	T	C	13: 3,904,401 (GRCm39)	S32P	probably benign	Het
Capn12	G	A	7: 28,592,094 (GRCm39)	D671N	probably benign	Het
Ccdc73	A	G	2: 104,848,127 (GRCm39)		probably null	Het
Cdc20	T	A	4: 118,294,261 (GRCm39)	I20F	probably benign	Het
Cdh23	A	T	10: 60,167,129 (GRCm39)	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,087 (GRCm39)	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997 (GRCm39)	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,516,820 (GRCm39)	Y133H	unknown	Het
Csmd1	A	G	8: 16,138,277 (GRCm39)	S1592P	probably damaging	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dock5	A	G	14: 68,037,803 (GRCm39)	S947P	probably benign	Het
Dpysl2	G	T	14: 67,052,498 (GRCm39)	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,647,531 (GRCm39)	D360G	probably damaging	Het
Ensa	T	C	3: 95,532,489 (GRCm39)		probably null	Het
Fap	C	A	2: 62,374,713 (GRCm39)	V229F	probably damaging	Het
Fbn1	C	A	2: 125,163,155 (GRCm39)	G2116*	probably null	Het
Frmd4b	A	T	6: 97,272,822 (GRCm39)	S857T	probably damaging	Het
Fsip2	T	A	2: 82,818,044 (GRCm39)	Y4592*	probably null	Het
Fubp1	T	A	3: 151,928,966 (GRCm39)	Y135N	possibly damaging	Het
Gdap2	T	C	3: 100,078,234 (GRCm39)	L66P	probably damaging	Het
Gm10257	T	C	13: 101,083,305 (GRCm39)		noncoding transcript	Het
Gm1758	A	T	16: 14,325,036 (GRCm39)		noncoding transcript	Het
Gna13	T	C	11: 109,254,455 (GRCm39)		probably benign	Het
H2bc13	T	C	13: 21,900,088 (GRCm39)	S76G	probably benign	Het
Heatr1	T	C	13: 12,446,718 (GRCm39)	I1689T	probably benign	Het
Hephl1	A	G	9: 15,009,286 (GRCm39)	I102T	probably benign	Het
Hltf	T	G	3: 20,118,114 (GRCm39)	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,256,784 (GRCm39)	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,530,077 (GRCm39)	R16S	probably benign	Het
Il1rap	A	C	16: 26,513,984 (GRCm39)	D239A	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,715,519 (GRCm39)	I457V	probably damaging	Het
Kctd17	T	A	15: 78,317,224 (GRCm39)	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,363,601 (GRCm39)	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,006,327 (GRCm39)	D1266G	probably benign	Het
Map3k2	G	T	18: 32,361,203 (GRCm39)	M554I	probably damaging	Het
Mst1r	T	A	9: 107,797,124 (GRCm39)	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400 (GRCm39)	I775T	probably damaging	Het
Mybl2	A	G	2: 162,916,683 (GRCm39)	K7E	probably damaging	Het
Nf1	T	C	11: 79,338,398 (GRCm39)	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,117,055 (GRCm39)	I260V	probably damaging	Het
Or13c7	A	T	4: 43,854,323 (GRCm39)	N5Y	probably benign	Het
Or9g4	A	C	2: 85,504,842 (GRCm39)	Y218D	probably damaging	Het
Or9s23	G	T	1: 92,501,207 (GRCm39)	A105S	possibly damaging	Het
Pabpc1l	C	T	2: 163,869,542 (GRCm39)	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,311,973 (GRCm39)	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,476,293 (GRCm39)	N531I	probably damaging	Het
Prdm10	A	G	9: 31,264,701 (GRCm39)	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297 (GRCm39)	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,730,644 (GRCm39)		probably null	Het
Rnf135	T	C	11: 80,087,775 (GRCm39)		probably null	Het
Rusf1	A	T	7: 127,887,374 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,005,951 (GRCm39)	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,494,581 (GRCm39)	T124S	probably benign	Het
Slc26a5	G	A	5: 22,042,992 (GRCm39)	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,588,822 (GRCm39)	F275S	possibly damaging	Het
Snx14	A	G	9: 88,276,495 (GRCm39)	S606P	probably damaging	Het
Sphkap	A	T	1: 83,255,805 (GRCm39)	I648K	possibly damaging	Het
Spon2	T	C	5: 33,371,904 (GRCm39)	T301A	probably damaging	Het
Srpra	C	T	9: 35,124,447 (GRCm39)	T48I	probably benign	Het
Taar9	G	A	10: 23,985,408 (GRCm39)	P9S	probably benign	Het
Tacc1	A	T	8: 25,672,405 (GRCm39)	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,617,376 (GRCm39)	S348P	possibly damaging	Het
Timd2	G	T	11: 46,578,008 (GRCm39)	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,842,857 (GRCm39)	E206V	probably damaging	Het
Tmt1a3	A	G	15: 100,232,889 (GRCm39)	M27V	probably benign	Het
Tpi1	A	T	6: 124,789,544 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,765 (GRCm39)	T429P	probably benign	Het
Trav4-3	A	G	14: 53,836,615 (GRCm39)	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,457,895 (GRCm39)	M462T	probably benign	Het
Ube4a	T	C	9: 44,860,120 (GRCm39)	D314G	probably damaging	Het
Utp25	T	A	1: 192,796,116 (GRCm39)	Q50L	probably null	Het
Vmn2r58	G	T	7: 41,514,495 (GRCm39)	T158K	probably damaging	Het
Vmn2r68	C	A	7: 84,883,648 (GRCm39)	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,325,658 (GRCm39)	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,273,395 (GRCm39)	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,768,546 (GRCm39)	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,066,186 (GRCm39)	D52E	probably damaging	Het

Other mutations in Adam17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Adam17	APN	12	21,378,110 (GRCm39)	missense	probably damaging	1.00
IGL01340:Adam17	APN	12	21,380,058 (GRCm39)	nonsense	probably null
IGL01973:Adam17	APN	12	21,399,944 (GRCm39)	missense	probably damaging	1.00
IGL02223:Adam17	APN	12	21,411,706 (GRCm39)	missense	possibly damaging	0.92
IGL03153:Adam17	APN	12	21,395,698 (GRCm39)	missense	probably damaging	1.00
Steinway	UTSW	12	21,403,949 (GRCm39)	missense	probably damaging	1.00
wavedx	UTSW	12	21,390,751 (GRCm39)	missense	probably damaging	1.00
R0014:Adam17	UTSW	12	21,386,645 (GRCm39)	missense	probably benign	0.36
R0080:Adam17	UTSW	12	21,379,049 (GRCm39)	splice site	probably benign
R0082:Adam17	UTSW	12	21,379,049 (GRCm39)	splice site	probably benign
R0324:Adam17	UTSW	12	21,399,939 (GRCm39)	missense	probably benign	0.00
R0511:Adam17	UTSW	12	21,390,459 (GRCm39)	splice site	probably benign
R0745:Adam17	UTSW	12	21,382,222 (GRCm39)	splice site	probably benign
R1314:Adam17	UTSW	12	21,379,072 (GRCm39)	missense	probably damaging	1.00
R1547:Adam17	UTSW	12	21,403,958 (GRCm39)	missense	probably damaging	1.00
R1594:Adam17	UTSW	12	21,390,471 (GRCm39)	critical splice donor site	probably null
R1607:Adam17	UTSW	12	21,384,139 (GRCm39)	splice site	probably null
R1812:Adam17	UTSW	12	21,411,768 (GRCm39)	missense	probably damaging	0.97
R2020:Adam17	UTSW	12	21,399,876 (GRCm39)	missense	probably damaging	1.00
R3408:Adam17	UTSW	12	21,379,119 (GRCm39)	missense	probably damaging	1.00
R3735:Adam17	UTSW	12	21,375,413 (GRCm39)	missense	probably benign	0.05
R3886:Adam17	UTSW	12	21,375,588 (GRCm39)	missense	probably damaging	1.00
R3888:Adam17	UTSW	12	21,375,588 (GRCm39)	missense	probably damaging	1.00
R4062:Adam17	UTSW	12	21,375,458 (GRCm39)	missense	probably damaging	1.00
R4415:Adam17	UTSW	12	21,395,702 (GRCm39)	missense	possibly damaging	0.90
R4563:Adam17	UTSW	12	21,382,089 (GRCm39)	missense	probably damaging	1.00
R4658:Adam17	UTSW	12	21,382,161 (GRCm39)	missense	probably damaging	1.00
R4763:Adam17	UTSW	12	21,384,016 (GRCm39)	missense	probably benign
R5101:Adam17	UTSW	12	21,423,406 (GRCm39)	missense	possibly damaging	0.85
R5120:Adam17	UTSW	12	21,393,020 (GRCm39)	intron	probably benign
R5514:Adam17	UTSW	12	21,390,520 (GRCm39)	missense	probably damaging	0.98
R5592:Adam17	UTSW	12	21,384,138 (GRCm39)	missense	probably damaging	1.00
R5874:Adam17	UTSW	12	21,379,087 (GRCm39)	missense	possibly damaging	0.76
R6110:Adam17	UTSW	12	21,403,949 (GRCm39)	missense	probably damaging	1.00
R6451:Adam17	UTSW	12	21,392,883 (GRCm39)	missense	probably benign	0.00
R6930:Adam17	UTSW	12	21,403,949 (GRCm39)	missense	probably damaging	1.00
R6970:Adam17	UTSW	12	21,395,669 (GRCm39)	missense	probably benign	0.06
R7213:Adam17	UTSW	12	21,386,679 (GRCm39)	nonsense	probably null
R7302:Adam17	UTSW	12	21,405,694 (GRCm39)	intron	probably benign
R7361:Adam17	UTSW	12	21,375,602 (GRCm39)	missense	probably damaging	0.98
R7667:Adam17	UTSW	12	21,383,953 (GRCm39)	critical splice donor site	probably null
R7799:Adam17	UTSW	12	21,390,493 (GRCm39)	missense	probably damaging	1.00
R8762:Adam17	UTSW	12	21,401,595 (GRCm39)	missense	probably benign	0.03
R8958:Adam17	UTSW	12	21,399,934 (GRCm39)	missense	possibly damaging	0.61
R9108:Adam17	UTSW	12	21,380,132 (GRCm39)	missense	probably benign
R9163:Adam17	UTSW	12	21,401,588 (GRCm39)	missense	probably benign	0.00
R9295:Adam17	UTSW	12	21,399,938 (GRCm39)	missense	probably benign	0.02
R9345:Adam17	UTSW	12	21,378,056 (GRCm39)	missense	probably damaging	1.00
R9444:Adam17	UTSW	12	21,375,536 (GRCm39)	missense	probably benign	0.28
R9522:Adam17	UTSW	12	21,395,693 (GRCm39)	missense	probably damaging	1.00
R9582:Adam17	UTSW	12	21,386,665 (GRCm39)	missense	probably benign	0.14
X0063:Adam17	UTSW	12	21,382,586 (GRCm39)	missense	probably benign	0.17
Z1176:Adam17	UTSW	12	21,411,738 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCTGCAGCCTTCTCTTAATAGG -3'
(R):5'- ACCACTAAGGACAGATGTTATGAG -3'

Sequencing Primer
(F):5'- CCCACATAAATGACTTGCTA -3'
(R):5'- AAGGCTGTAATAGACCCTGTCTC -3'

Posted On

2016-02-04