Mutagenetix > Incidental Mutation

Incidental Mutation 'R5120:Adam17'

392953

Institutional Source

Beutler Lab

Gene Symbol

Adam17

Ensembl Gene

ENSMUSG00000052593

Gene Name

a disintegrin and metallopeptidase domain 17

Synonyms

CD156b, Tace

MMRRC Submission

042708-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R5120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21373510-21423633 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 21393020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155953 (fasta)

Gene Model

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

AlphaFold

Q9Z0F8

Predicted Effect

probably benign
Transcript: ENSMUST00000064536

SMART Domains

Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593

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

SMART Domains

Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593

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: ENSMUST00000145118

SMART Domains

Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

100% (97/97)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,101,061 (GRCm39)	H225R	probably benign	Het
Abcc9	T	A	6: 142,602,344 (GRCm39)	I690F	probably benign	Het
Acp4	A	T	7: 43,906,395 (GRCm39)	D52E	probably damaging	Het
Adamts15	T	C	9: 30,832,872 (GRCm39)	E221G	probably damaging	Het
Aoc2	A	G	11: 101,216,540 (GRCm39)	T208A	probably benign	Het
Apoa4	T	G	9: 46,154,035 (GRCm39)	I212S	probably damaging	Het
Bptf	A	T	11: 106,964,211 (GRCm39)	M1598K	probably damaging	Het
Camsap3	G	A	8: 3,650,680 (GRCm39)	R209Q	probably damaging	Het
Ccdc171	C	A	4: 83,476,763 (GRCm39)		probably benign	Het
Celsr2	G	C	3: 108,300,436 (GRCm39)	P2875A	probably benign	Het
Cenpb	A	G	2: 131,021,738 (GRCm39)	V20A	probably benign	Het
Cfap61	A	T	2: 145,985,080 (GRCm39)	K975*	probably null	Het
Cfhr4	T	C	1: 139,680,841 (GRCm39)	S226G	probably benign	Het
Col9a2	G	T	4: 120,896,969 (GRCm39)	A20S	unknown	Het
Crnn	A	T	3: 93,056,203 (GRCm39)	I330F	probably benign	Het
Csf3r	C	A	4: 125,929,620 (GRCm39)	P381Q	probably benign	Het
Csmd3	G	A	15: 48,536,891 (GRCm39)	Q104*	probably null	Het
Ctnna1	G	A	18: 35,315,607 (GRCm39)		probably null	Het
Cwf19l2	C	T	9: 3,418,761 (GRCm39)	Q183*	probably null	Het
Ddx60	T	C	8: 62,398,940 (GRCm39)	Y220H	probably benign	Het
Dhh	T	C	15: 98,796,038 (GRCm39)	Q39R	probably benign	Het
Dynlrb2	T	A	8: 117,242,437 (GRCm39)	I89N	possibly damaging	Het
Dytn	T	C	1: 63,662,202 (GRCm39)	E645G	probably benign	Het
Efcab7	A	G	4: 99,754,688 (GRCm39)	T287A	probably damaging	Het
Eogt	A	G	6: 97,111,276 (GRCm39)	V195A	probably benign	Het
Ep400	G	T	5: 110,904,224 (GRCm39)	P125Q	probably damaging	Het
Fasn	A	G	11: 120,702,217 (GRCm39)	V1815A	probably benign	Het
Gm5866	T	C	5: 52,740,224 (GRCm39)		noncoding transcript	Het
Gm8674	C	A	13: 50,055,984 (GRCm39)		noncoding transcript	Het
Gpat4	G	T	8: 23,670,218 (GRCm39)	H270Q	possibly damaging	Het
Grik5	A	G	7: 24,710,065 (GRCm39)	L890P	probably damaging	Het
Gsap	A	G	5: 21,474,934 (GRCm39)	N500S	probably damaging	Het
H2-M10.1	T	C	17: 36,636,048 (GRCm39)	D173G	probably benign	Het
Igfn1	T	A	1: 135,901,240 (GRCm39)	I413F	possibly damaging	Het
Ighv1-52	G	T	12: 115,109,406 (GRCm39)	H17N	probably benign	Het
Kcnu1	T	A	8: 26,424,516 (GRCm39)	D270E	possibly damaging	Het
Kif16b	A	C	2: 142,690,259 (GRCm39)	N274K	probably damaging	Het
Klk1b11	C	T	7: 43,648,446 (GRCm39)	T151I	probably benign	Het
Krtap13	A	G	16: 88,548,458 (GRCm39)	F10S	probably damaging	Het
Large1	A	T	8: 73,585,969 (GRCm39)	I379N	probably damaging	Het
Lhx8	T	C	3: 154,017,332 (GRCm39)	H301R	probably damaging	Het
Lrriq3	T	C	3: 154,835,021 (GRCm39)	V252A	probably benign	Het
Lysmd3	T	A	13: 81,817,311 (GRCm39)	I96N	probably damaging	Het
Mpeg1	C	T	19: 12,438,793 (GRCm39)	Q84*	probably null	Het
Myoz1	C	T	14: 20,700,722 (GRCm39)	G165D	probably benign	Het
Myt1	G	A	2: 181,439,413 (GRCm39)	V312I	probably benign	Het
Ndufb7	T	C	8: 84,293,606 (GRCm39)		probably benign	Het
Numa1	C	T	7: 101,626,644 (GRCm39)	T10M	probably damaging	Het
Or10d1b	T	A	9: 39,613,366 (GRCm39)	H233L	probably benign	Het
Or1e30	A	C	11: 73,677,790 (GRCm39)	I9L	probably benign	Het
Or2g7	A	T	17: 38,378,157 (GRCm39)	I32F	probably damaging	Het
Or4f14d	A	T	2: 111,960,903 (GRCm39)	D84E	probably damaging	Het
Or4k39	T	C	2: 111,239,585 (GRCm39)		noncoding transcript	Het
Osmr	A	T	15: 6,856,756 (GRCm39)	S464T	probably benign	Het
Pak5	G	A	2: 135,925,149 (GRCm39)	H718Y	probably damaging	Het
Pan2	T	A	10: 128,150,864 (GRCm39)		probably null	Het
Pik3r4	T	C	9: 105,546,208 (GRCm39)	S853P	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polr3gl	T	A	3: 96,485,795 (GRCm39)		probably benign	Het
Psd2	G	A	18: 36,112,863 (GRCm39)	R186Q	possibly damaging	Het
Psd4	T	C	2: 24,295,450 (GRCm39)	V868A	probably benign	Het
Ralgapa2	G	T	2: 146,254,004 (GRCm39)	T852K	probably benign	Het
Rbm43	T	C	2: 51,822,435 (GRCm39)		probably benign	Het
Rps6kl1	C	A	12: 85,186,122 (GRCm39)	G329C	probably damaging	Het
Scaf11	T	C	15: 96,317,423 (GRCm39)	T714A	probably benign	Het
Selenoo	C	A	15: 88,978,508 (GRCm39)	N310K	possibly damaging	Het
Sepsecs	T	C	5: 52,818,003 (GRCm39)	Q258R	probably damaging	Het
Sgcz	T	C	8: 37,993,420 (GRCm39)	S226G	probably benign	Het
Slfn5	A	G	11: 82,851,754 (GRCm39)	K627E	probably damaging	Het
Sos1	A	T	17: 80,715,677 (GRCm39)	F1027I	probably damaging	Het
Ssh1	C	G	5: 114,095,459 (GRCm39)	V228L	possibly damaging	Het
Sugp1	C	A	8: 70,501,317 (GRCm39)	P65T	probably benign	Het
Tas2r106	T	A	6: 131,655,779 (GRCm39)	N24I	probably damaging	Het
Tex10	T	C	4: 48,459,272 (GRCm39)	E534G	possibly damaging	Het
Tmem182	C	T	1: 40,894,061 (GRCm39)	T192I	possibly damaging	Het
Traf7	T	A	17: 24,737,718 (GRCm39)	K51*	probably null	Het
Trap1	C	A	16: 3,861,952 (GRCm39)	R604L	probably damaging	Het
Trim6	T	A	7: 103,877,447 (GRCm39)	L179Q	probably damaging	Het
Ubfd1	T	C	7: 121,670,973 (GRCm39)	S264P	probably damaging	Het
Upk3bl	T	C	5: 136,093,045 (GRCm39)		probably benign	Het
Wdfy3	T	A	5: 102,015,972 (GRCm39)	Q2601L	possibly damaging	Het
Wdr89	A	G	12: 75,679,412 (GRCm39)	Y281H	probably damaging	Het
Zfp286	A	T	11: 62,671,551 (GRCm39)	M174K	probably benign	Het
Zmym1	T	C	4: 126,945,230 (GRCm39)		probably null	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
R4793:Adam17	UTSW	12	21,397,396 (GRCm39)	missense	probably benign
R5101:Adam17	UTSW	12	21,423,406 (GRCm39)	missense	possibly damaging	0.85
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'- TGTGCAGAACATGACCTACCTC -3'
(R):5'- CAGATGCCGGGCTTTGATAAAG -3'

Sequencing Primer
(F):5'- TGCAGAACATGACCTACCTCTAATAG -3'
(R):5'- TAGTCAGGATCTTTCCACACAG -3'

Posted On

2016-06-15