Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02539:Adam5'

297654

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam5

Ensembl Gene

ENSMUSG00000031554

Gene Name

a disintegrin and metallopeptidase domain 5

Synonyms

tMDCII

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02539

Quality Score

Status

Chromosome

Chromosomal Location

24727093-24824369 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24786213 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 479 (Y479*)

Ref Sequence

ENSEMBL: ENSMUSP00000147290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050300] [ENSMUST00000118419] [ENSMUST00000209935]

Predicted Effect

probably null
Transcript: ENSMUST00000050300
AA Change: Y479*

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: Y479*

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Pep_M12B_propep	16	142	1.6e-19	PFAM
Pfam:Reprolysin	185	378	7.7e-59	PFAM
DISIN	397	474	9.1e-42	SMART
ACR	475	618	6.9e-58	SMART
transmembrane domain	695	712	N/A	INTRINSIC
low complexity region	718	751	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118419
AA Change: Y479*

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: Y479*

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Pep_M12B_propep	16	142	4.7e-30	PFAM
Pfam:Reprolysin	185	378	7.9e-56	PFAM
DISIN	397	474	1.78e-39	SMART
ACR	475	618	2.06e-55	SMART
transmembrane domain	695	712	N/A	INTRINSIC
low complexity region	718	750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130939

Predicted Effect

probably null
Transcript: ENSMUST00000132180
AA Change: Y396*

SMART Domains

Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: Y396*

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	1	60	6.7e-14	PFAM
Pfam:Reprolysin	103	296	2.5e-61	PFAM
DISIN	315	392	1.78e-39	SMART
ACR	393	536	2.06e-55	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000209935
AA Change: Y479*

Coding Region Coverage

Validation Efficiency

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, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btnl6	T	C	17: 34,508,314	N414S	probably benign	Het
Ccdc180	A	G	4: 45,921,005	N984D	probably damaging	Het
Cfc1	A	T	1: 34,537,122		probably benign	Het
Chrm1	G	A	19: 8,678,311	V127M	probably damaging	Het
Dicer1	A	G	12: 104,697,035	L1429P	probably damaging	Het
Erbb3	A	G	10: 128,584,305		probably null	Het
Evi5	T	C	5: 107,815,665	E348G	probably benign	Het
Fat2	G	A	11: 55,281,793	T2698I	probably damaging	Het
Gas2	A	G	7: 51,897,290	D63G	possibly damaging	Het
Gm28042	A	G	2: 120,035,221	D313G	probably damaging	Het
Hivep2	T	A	10: 14,131,878	S1407T	probably damaging	Het
Ibsp	T	A	5: 104,302,283	M19K	probably damaging	Het
Itih3	C	T	14: 30,912,664	D129N	probably benign	Het
Krtap4-8	A	T	11: 99,780,370		probably benign	Het
Mertk	A	G	2: 128,801,290	T870A	probably damaging	Het
Mtmr11	C	A	3: 96,164,991		probably benign	Het
Nbas	C	A	12: 13,272,703		probably benign	Het
Nlrp4b	A	G	7: 10,714,428	D186G	probably damaging	Het
Olfm3	A	G	3: 115,101,930	I154V	possibly damaging	Het
Olfr713	T	A	7: 107,036,434	I93N	probably damaging	Het
Pdk2	T	C	11: 95,032,495	K101R	probably benign	Het
Pds5a	C	T	5: 65,666,119	D110N	probably damaging	Het
Pex5	A	T	6: 124,403,224	D288E	probably benign	Het
Pitrm1	A	G	13: 6,568,756	D655G	probably benign	Het
Plcz1	T	C	6: 139,992,964	N554S	probably benign	Het
Plin4	T	C	17: 56,106,680	Q315R	probably damaging	Het
Plpp5	A	G	8: 25,724,188	H244R	probably benign	Het
Ppp1r3a	C	T	6: 14,718,459	V819I	probably benign	Het
Rap1b	T	A	10: 117,822,804	R41S	possibly damaging	Het
Rc3h2	T	A	2: 37,389,715	S501C	probably benign	Het
Sel1l2	G	T	2: 140,230,858	A619D	probably damaging	Het
Ska3	T	C	14: 57,820,511	D128G	possibly damaging	Het
Specc1l	A	T	10: 75,267,508	I889L	probably benign	Het
Ssxb5	T	A	X: 8,808,848	N130K	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tet1	T	C	10: 62,813,019	Q267R	possibly damaging	Het
Tlr8	T	A	X: 167,244,156	H566L	possibly damaging	Het
Tmem132d	T	A	5: 127,783,979	Q1026L	probably benign	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Trp53bp2	C	A	1: 182,448,691	P746T	probably damaging	Het
Uso1	A	T	5: 92,187,773	I547F	probably damaging	Het
Zfp687	A	C	3: 95,011,062	N466K	probably damaging	Het

Other mutations in Adam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Adam5	APN	8	24818742	missense	probably benign	0.18
IGL01285:Adam5	APN	8	24781594	missense	probably benign	0.02
IGL01310:Adam5	APN	8	24742134	intron	probably benign
IGL01510:Adam5	APN	8	24804465	missense	probably damaging	1.00
IGL01570:Adam5	APN	8	24810823	missense	probably damaging	1.00
IGL02017:Adam5	APN	8	24781759	missense	probably benign	0.38
IGL02191:Adam5	APN	8	24812423	nonsense	probably null
IGL02397:Adam5	APN	8	24744133	intron	probably benign
IGL02488:Adam5	APN	8	24792006	missense	probably damaging	0.98
IGL02490:Adam5	APN	8	24781704	nonsense	probably null
IGL02499:Adam5	APN	8	24781565	critical splice donor site	probably null
IGL02590:Adam5	APN	8	24744135	intron	probably benign
IGL02677:Adam5	APN	8	24812379	splice site	probably benign
IGL02679:Adam5	APN	8	24806526	missense	probably damaging	1.00
IGL02982:Adam5	APN	8	24804431	missense	probably benign	0.02
IGL03146:Adam5	APN	8	24804503	missense	probably damaging	0.98
IGL03162:Adam5	APN	8	24781604	missense	probably benign	0.30
IGL03284:Adam5	APN	8	24786338	splice site	probably benign
R0081:Adam5	UTSW	8	24781687	missense	probably damaging	1.00
R0377:Adam5	UTSW	8	24747541	missense	probably benign	0.08
R0398:Adam5	UTSW	8	24813432	missense	probably benign	0.17
R0771:Adam5	UTSW	8	24786299	missense	probably benign	0.04
R0925:Adam5	UTSW	8	24812425	missense	probably benign	0.09
R1547:Adam5	UTSW	8	24810713	missense	probably benign	0.10
R1985:Adam5	UTSW	8	24746739	missense	probably benign	0.01
R2115:Adam5	UTSW	8	24744145	intron	probably benign
R2125:Adam5	UTSW	8	24815118	missense	probably damaging	1.00
R2144:Adam5	UTSW	8	24815480	missense	probably benign	0.14
R3151:Adam5	UTSW	8	24781631	missense	probably damaging	0.99
R3612:Adam5	UTSW	8	24818089	splice site	probably benign
R3844:Adam5	UTSW	8	24813410	missense	probably benign	0.12
R3873:Adam5	UTSW	8	24815109	missense	probably benign	0.02
R4514:Adam5	UTSW	8	24818136	missense	probably damaging	1.00
R4843:Adam5	UTSW	8	24813536	missense	probably damaging	1.00
R4866:Adam5	UTSW	8	24742156	splice site	probably null
R4866:Adam5	UTSW	8	24781603	missense	probably damaging	0.98
R4900:Adam5	UTSW	8	24742156	splice site	probably null
R4900:Adam5	UTSW	8	24781603	missense	probably damaging	0.98
R4903:Adam5	UTSW	8	24786232	missense	probably damaging	1.00
R4936:Adam5	UTSW	8	24786271	missense	probably damaging	1.00
R4964:Adam5	UTSW	8	24786232	missense	probably damaging	1.00
R5259:Adam5	UTSW	8	24810834	missense	possibly damaging	0.90
R5293:Adam5	UTSW	8	24810706	missense	possibly damaging	0.46
R5724:Adam5	UTSW	8	24804495	nonsense	probably null
R5859:Adam5	UTSW	8	24813461	missense	probably benign
R6004:Adam5	UTSW	8	24781669	missense	probably benign	0.04
R6175:Adam5	UTSW	8	24786151	missense	probably benign	0.00
R6539:Adam5	UTSW	8	24782600	missense	possibly damaging	0.85
R6994:Adam5	UTSW	8	24786246	nonsense	probably null
R6996:Adam5	UTSW	8	24806501	missense	probably damaging	1.00
R7009:Adam5	UTSW	8	24806438	missense	probably benign	0.00
R7115:Adam5	UTSW	8	24781696	missense	possibly damaging	0.69
R7127:Adam5	UTSW	8	24810781	missense	probably damaging	1.00
R7469:Adam5	UTSW	8	24815525	missense	probably benign	0.45
R7780:Adam5	UTSW	8	24804416	missense	possibly damaging	0.49
R8027:Adam5	UTSW	8	24782558	missense	probably damaging	1.00
R8069:Adam5	UTSW	8	24813525	missense	probably damaging	1.00
R8138:Adam5	UTSW	8	24781762	missense	probably damaging	1.00
R8305:Adam5	UTSW	8	24810703	missense	possibly damaging	0.93
R8359:Adam5	UTSW	8	24806486	missense	probably damaging	1.00
R8480:Adam5	UTSW	8	24804459	nonsense	probably null
R8743:Adam5	UTSW	8	24786248	missense	probably damaging	1.00
X0019:Adam5	UTSW	8	24812443	missense	probably benign	0.00
X0022:Adam5	UTSW	8	24813563	critical splice acceptor site	probably null
X0027:Adam5	UTSW	8	24818772	missense	probably damaging	1.00

Posted On

2015-04-16