Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01510:Adam5'

89181

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: 0.061) question?

Stock #

IGL01510

Quality Score

Status

Chromosome

Chromosomal Location

24727093-24824369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24804465 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 373 (C373S)

Ref Sequence

ENSEMBL: ENSMUSP00000147290 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000050300
AA Change: C373S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: C373S

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 damaging
Transcript: ENSMUST00000118419
AA Change: C373S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: C373S

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

unknown
Transcript: ENSMUST00000132180
AA Change: C290S

SMART Domains

Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: C290S

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 damaging
Transcript: ENSMUST00000209935
AA Change: C373S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,143,979	Q6R	probably damaging	Het
Adgre4	T	C	17: 55,818,760		probably null	Het
Akap10	A	T	11: 61,878,020	M614K	possibly damaging	Het
Amigo2	T	C	15: 97,245,081	T487A	probably benign	Het
Asap1	T	C	15: 64,158,928	D300G	probably damaging	Het
Atp4a	C	A	7: 30,720,791	L788M	probably benign	Het
Bcl3	T	A	7: 19,809,614	H309L	probably damaging	Het
Cblc	T	C	7: 19,785,275	N376S	probably benign	Het
Cd200r2	A	T	16: 44,909,311	I110L	probably benign	Het
Ceacam3	T	C	7: 17,159,842	M426T	probably benign	Het
Cep295	G	A	9: 15,354,626	R29*	probably null	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Ctps	G	T	4: 120,558,844	T194K	probably damaging	Het
Cul3	A	G	1: 80,282,679	S318P	probably damaging	Het
Fasl	A	T	1: 161,781,953	S155T	possibly damaging	Het
Gldc	C	T	19: 30,113,721		probably null	Het
Gpr21	T	A	2: 37,518,421	C326*	probably null	Het
Gtf2a1	A	G	12: 91,567,833	S216P	probably benign	Het
Hoxb5	A	T	11: 96,303,992	S127C	possibly damaging	Het
Htt	A	T	5: 34,907,512	Q3023L	probably damaging	Het
Kalrn	T	A	16: 34,235,330	H855L	possibly damaging	Het
Lars	T	C	18: 42,242,109	I289V	probably benign	Het
Lrig3	C	A	10: 126,008,698	T677K	probably damaging	Het
Mapk7	A	T	11: 61,491,160	W309R	probably damaging	Het
Mmp12	A	G	9: 7,358,307	T468A	possibly damaging	Het
Muc5b	A	T	7: 141,859,061	N1915Y	unknown	Het
Naprt	A	G	15: 75,890,988		probably benign	Het
Nfatc1	T	C	18: 80,698,188	Y199C	probably damaging	Het
Olfr857	A	T	9: 19,713,279	I151F	probably benign	Het
Olfr919	T	C	9: 38,697,905	I158V	probably benign	Het
Phip	T	A	9: 82,913,871	I566F	probably benign	Het
Pnpla3	T	A	15: 84,171,072		probably benign	Het
Ptpn13	C	T	5: 103,562,300	T1567I	probably damaging	Het
Ptpn20	A	G	14: 33,638,386		probably null	Het
Ptprq	G	T	10: 107,712,048	T163K	probably damaging	Het
Slc8a1	A	G	17: 81,648,365	C415R	probably damaging	Het
Slco4c1	A	G	1: 96,867,953	S127P	probably damaging	Het
Tcerg1l	A	T	7: 138,394,305		probably benign	Het
Thbd	C	T	2: 148,406,974	V325M	probably damaging	Het
Trim37	G	A	11: 87,177,860	R344H	probably damaging	Het
Ttn	T	C	2: 76,872,765		probably benign	Het
Uvrag	G	A	7: 99,004,589	Q65*	probably null	Het
Wrap53	G	A	11: 69,562,740	S342L	possibly damaging	Het
Zbtb11	T	G	16: 55,990,343	V288G	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
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
IGL02539:Adam5	APN	8	24786213	nonsense	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
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

2013-12-03