Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02499:Adam5'

295977

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: 0.058) question?

Stock #

IGL02499

Quality Score

Status

Chromosome

Chromosomal Location

24727093-24824369 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 24781565 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147290 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000050300

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554

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

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554

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

SMART Domains

Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Abcb1a	A	G	5: 8,726,807	N835S	possibly damaging	Het
Abr	A	T	11: 76,509,090	F27Y	probably benign	Het
Alas1	A	T	9: 106,241,321	Y201N	probably damaging	Het
Aldoart1	T	A	4: 72,852,239	R111W	possibly damaging	Het
Arhgef25	A	G	10: 127,185,591	Y253H	probably damaging	Het
Arhgef28	G	T	13: 97,953,783	A1076E	possibly damaging	Het
Baz2b	C	T	2: 59,901,496	R2066K	possibly damaging	Het
Bdh1	G	T	16: 31,438,048	R5L	possibly damaging	Het
Brap	A	G	5: 121,679,871	Y358C	probably damaging	Het
Cad	T	C	5: 31,069,604	V1235A	probably damaging	Het
Cadps	G	T	14: 12,822,725	S5*	probably null	Het
Cd200r2	A	G	16: 44,914,585	T220A	possibly damaging	Het
Cd209e	T	A	8: 3,854,238	M6L	probably benign	Het
Cdh23	G	T	10: 60,385,179	T1265K	probably damaging	Het
Clec16a	T	C	16: 10,694,676	S828P	probably benign	Het
Dao	A	G	5: 114,013,941	K107E	possibly damaging	Het
Dnah6	T	A	6: 73,021,227	M4071L	probably benign	Het
Dvl1	T	C	4: 155,854,780	I250T	probably benign	Het
Dzip3	A	C	16: 48,933,850	L945V	probably damaging	Het
Gm128	A	G	3: 95,240,681	S101P	possibly damaging	Het
Gm4951	T	C	18: 60,245,638	S82P	probably damaging	Het
Gphn	T	C	12: 78,492,300	L240P	probably benign	Het
Hecw2	A	G	1: 53,926,488	I393T	probably benign	Het
Kat14	A	G	2: 144,393,831	E161G	probably benign	Het
Kcne3	A	C	7: 100,184,403	I76L	probably benign	Het
Kcnk18	A	T	19: 59,235,182	Q253L	probably benign	Het
Kmt2a	T	C	9: 44,830,509		probably benign	Het
Lrrc73	A	G	17: 46,256,989		probably benign	Het
Mki67	A	G	7: 135,694,327	S2993P	possibly damaging	Het
Mto1	T	A	9: 78,461,512		probably benign	Het
Myo9a	T	A	9: 59,815,386		probably benign	Het
Myt1	G	A	2: 181,825,549		probably benign	Het
Ncoa7	T	C	10: 30,690,889	T587A	probably benign	Het
Nemf	T	A	12: 69,322,129	I771F	probably damaging	Het
Olfr180	A	G	16: 58,916,251	L130P	probably damaging	Het
Olfr250	A	T	9: 38,367,681	Y45F	probably benign	Het
Olfr370	T	A	8: 83,541,183	V13D	possibly damaging	Het
Papln	T	C	12: 83,780,671	V761A	probably benign	Het
Pask	A	T	1: 93,321,095	L861*	probably null	Het
Pcdh18	T	A	3: 49,753,447	R859S	probably benign	Het
Ppip5k1	C	T	2: 121,331,553		probably null	Het
Ptprs	A	G	17: 56,437,884	V284A	probably damaging	Het
Rasgrp4	A	T	7: 29,151,503		probably benign	Het
Rp1	T	C	1: 4,349,048	I614V	probably benign	Het
Sec23ip	T	C	7: 128,776,916	I818T	probably damaging	Het
Skint11	G	A	4: 114,194,604	A50T	probably benign	Het
Sqor	T	A	2: 122,808,087	M417K	possibly damaging	Het
Tbc1d24	T	C	17: 24,207,619		probably null	Het
Tbc1d8b	A	T	X: 139,712,424	D333V	probably damaging	Het
Tbx2	T	C	11: 85,840,913	S679P	possibly damaging	Het
Thbs2	A	G	17: 14,684,066		probably benign	Het
Ttn	T	C	2: 76,859,451		probably benign	Het
Vmn2r28	A	T	7: 5,490,569	I126N	probably damaging	Het
Zbtb10	G	T	3: 9,251,740	G204V	probably damaging	Het
Zfp426	A	C	9: 20,473,118		probably benign	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
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
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