Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02590:Adam5'

299694

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

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02590

Quality Score

Status

Chromosome

Chromosomal Location

25217109-25314385 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 25234151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147290 (fasta)

Gene Model

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

AlphaFold

Q3TTE0

Predicted Effect

unknown
Transcript: ENSMUST00000050300
AA Change: R723S

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: R723S

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

unknown
Transcript: ENSMUST00000118419
AA Change: R723S

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: R723S

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 benign
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 benign
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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,184,404 (GRCm39)	F118S	probably damaging	Het
Bok	T	C	1: 93,614,397 (GRCm39)		probably benign	Het
C1s1	C	T	6: 124,508,235 (GRCm39)	V585I	possibly damaging	Het
Chd2	C	T	7: 73,102,948 (GRCm39)	V1346I	probably benign	Het
Cyb5a	A	T	18: 84,889,732 (GRCm39)	T54S	probably benign	Het
Dnah7b	A	T	1: 46,162,937 (GRCm39)	T428S	probably benign	Het
Efhc1	T	C	1: 21,037,608 (GRCm39)	Y262H	probably damaging	Het
Fyb2	A	T	4: 104,836,250 (GRCm39)	I404F	probably damaging	Het
Glra2	T	C	X: 164,037,222 (GRCm39)	N237S	probably benign	Het
Gypc	A	G	18: 32,663,060 (GRCm39)	*96R	probably null	Het
Il15	T	C	8: 83,069,912 (GRCm39)	I51V	probably benign	Het
Itgb2	T	C	10: 77,395,347 (GRCm39)	C483R	probably damaging	Het
Kdr	C	T	5: 76,096,983 (GRCm39)	D1272N	probably benign	Het
Kif14	C	A	1: 136,423,742 (GRCm39)	T969K	probably benign	Het
Klhl42	T	C	6: 146,993,810 (GRCm39)	S261P	probably damaging	Het
Lrp1	C	A	10: 127,388,660 (GRCm39)	G3263V	probably damaging	Het
Mid1	A	G	X: 168,710,019 (GRCm39)	E5G	probably damaging	Het
Mmrn2	T	A	14: 34,121,224 (GRCm39)	L698*	probably null	Het
Myh14	T	G	7: 44,273,503 (GRCm39)	Q1393P	probably damaging	Het
Ncoa7	C	T	10: 30,570,159 (GRCm39)	E267K	probably damaging	Het
Obox5	T	C	7: 15,491,517 (GRCm39)	I19T	possibly damaging	Het
Or13a20	A	G	7: 140,232,305 (GRCm39)		probably null	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcnx1	A	G	12: 82,041,752 (GRCm39)	Y2128C	probably damaging	Het
Plcb1	A	G	2: 135,136,784 (GRCm39)	D293G	probably benign	Het
Prpf4b	T	C	13: 35,072,129 (GRCm39)		probably benign	Het
Psapl1	A	T	5: 36,362,397 (GRCm39)	T330S	probably benign	Het
Rap1gap	A	G	4: 137,447,611 (GRCm39)	T453A	probably damaging	Het
Ric1	T	A	19: 29,544,881 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,840,020 (GRCm39)	E1590G	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Tlr12	A	G	4: 128,511,182 (GRCm39)	I356T	probably benign	Het
Trav8d-2	T	C	14: 53,279,906 (GRCm39)	S8P	possibly damaging	Het
Tyms	C	A	5: 30,269,149 (GRCm39)	V75L	probably benign	Het
Vmn1r230	T	A	17: 21,067,172 (GRCm39)	S120R	probably damaging	Het
Vmn2r84	T	A	10: 130,227,356 (GRCm39)		probably benign	Het
Wdr27	C	T	17: 15,138,041 (GRCm39)	A388T	possibly damaging	Het

Other mutations in Adam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Adam5	APN	8	25,308,758 (GRCm39)	missense	probably benign	0.18
IGL01285:Adam5	APN	8	25,271,610 (GRCm39)	missense	probably benign	0.02
IGL01310:Adam5	APN	8	25,232,150 (GRCm39)	intron	probably benign
IGL01510:Adam5	APN	8	25,294,481 (GRCm39)	missense	probably damaging	1.00
IGL01570:Adam5	APN	8	25,300,839 (GRCm39)	missense	probably damaging	1.00
IGL02017:Adam5	APN	8	25,271,775 (GRCm39)	missense	probably benign	0.38
IGL02191:Adam5	APN	8	25,302,439 (GRCm39)	nonsense	probably null
IGL02397:Adam5	APN	8	25,234,149 (GRCm39)	intron	probably benign
IGL02488:Adam5	APN	8	25,282,022 (GRCm39)	missense	probably damaging	0.98
IGL02490:Adam5	APN	8	25,271,720 (GRCm39)	nonsense	probably null
IGL02499:Adam5	APN	8	25,271,581 (GRCm39)	critical splice donor site	probably null
IGL02539:Adam5	APN	8	25,276,229 (GRCm39)	nonsense	probably null
IGL02677:Adam5	APN	8	25,302,395 (GRCm39)	splice site	probably benign
IGL02679:Adam5	APN	8	25,296,542 (GRCm39)	missense	probably damaging	1.00
IGL02982:Adam5	APN	8	25,294,447 (GRCm39)	missense	probably benign	0.02
IGL03146:Adam5	APN	8	25,294,519 (GRCm39)	missense	probably damaging	0.98
IGL03162:Adam5	APN	8	25,271,620 (GRCm39)	missense	probably benign	0.30
IGL03284:Adam5	APN	8	25,276,354 (GRCm39)	splice site	probably benign
R0081:Adam5	UTSW	8	25,271,703 (GRCm39)	missense	probably damaging	1.00
R0377:Adam5	UTSW	8	25,237,557 (GRCm39)	missense	probably benign	0.08
R0398:Adam5	UTSW	8	25,303,448 (GRCm39)	missense	probably benign	0.17
R0771:Adam5	UTSW	8	25,276,315 (GRCm39)	missense	probably benign	0.04
R0925:Adam5	UTSW	8	25,302,441 (GRCm39)	missense	probably benign	0.09
R1547:Adam5	UTSW	8	25,300,729 (GRCm39)	missense	probably benign	0.10
R1985:Adam5	UTSW	8	25,236,755 (GRCm39)	missense	probably benign	0.01
R2115:Adam5	UTSW	8	25,234,161 (GRCm39)	intron	probably benign
R2125:Adam5	UTSW	8	25,305,134 (GRCm39)	missense	probably damaging	1.00
R2144:Adam5	UTSW	8	25,305,496 (GRCm39)	missense	probably benign	0.14
R3151:Adam5	UTSW	8	25,271,647 (GRCm39)	missense	probably damaging	0.99
R3612:Adam5	UTSW	8	25,308,105 (GRCm39)	splice site	probably benign
R3844:Adam5	UTSW	8	25,303,426 (GRCm39)	missense	probably benign	0.12
R3873:Adam5	UTSW	8	25,305,125 (GRCm39)	missense	probably benign	0.02
R4514:Adam5	UTSW	8	25,308,152 (GRCm39)	missense	probably damaging	1.00
R4843:Adam5	UTSW	8	25,303,552 (GRCm39)	missense	probably damaging	1.00
R4866:Adam5	UTSW	8	25,271,619 (GRCm39)	missense	probably damaging	0.98
R4866:Adam5	UTSW	8	25,232,172 (GRCm39)	splice site	probably null
R4900:Adam5	UTSW	8	25,232,172 (GRCm39)	splice site	probably null
R4900:Adam5	UTSW	8	25,271,619 (GRCm39)	missense	probably damaging	0.98
R4903:Adam5	UTSW	8	25,276,248 (GRCm39)	missense	probably damaging	1.00
R4936:Adam5	UTSW	8	25,276,287 (GRCm39)	missense	probably damaging	1.00
R4964:Adam5	UTSW	8	25,276,248 (GRCm39)	missense	probably damaging	1.00
R5259:Adam5	UTSW	8	25,300,850 (GRCm39)	missense	possibly damaging	0.90
R5293:Adam5	UTSW	8	25,300,722 (GRCm39)	missense	possibly damaging	0.46
R5724:Adam5	UTSW	8	25,294,511 (GRCm39)	nonsense	probably null
R5859:Adam5	UTSW	8	25,303,477 (GRCm39)	missense	probably benign
R6004:Adam5	UTSW	8	25,271,685 (GRCm39)	missense	probably benign	0.04
R6175:Adam5	UTSW	8	25,276,167 (GRCm39)	missense	probably benign	0.00
R6539:Adam5	UTSW	8	25,272,616 (GRCm39)	missense	possibly damaging	0.85
R6994:Adam5	UTSW	8	25,276,262 (GRCm39)	nonsense	probably null
R6996:Adam5	UTSW	8	25,296,517 (GRCm39)	missense	probably damaging	1.00
R7009:Adam5	UTSW	8	25,296,454 (GRCm39)	missense	probably benign	0.00
R7115:Adam5	UTSW	8	25,271,712 (GRCm39)	missense	possibly damaging	0.69
R7127:Adam5	UTSW	8	25,300,797 (GRCm39)	missense	probably damaging	1.00
R7469:Adam5	UTSW	8	25,305,541 (GRCm39)	missense	probably benign	0.45
R7780:Adam5	UTSW	8	25,294,432 (GRCm39)	missense	possibly damaging	0.49
R8027:Adam5	UTSW	8	25,272,574 (GRCm39)	missense	probably damaging	1.00
R8069:Adam5	UTSW	8	25,303,541 (GRCm39)	missense	probably damaging	1.00
R8138:Adam5	UTSW	8	25,271,778 (GRCm39)	missense	probably damaging	1.00
R8305:Adam5	UTSW	8	25,300,719 (GRCm39)	missense	possibly damaging	0.93
R8359:Adam5	UTSW	8	25,296,502 (GRCm39)	missense	probably damaging	1.00
R8480:Adam5	UTSW	8	25,294,475 (GRCm39)	nonsense	probably null
R8743:Adam5	UTSW	8	25,276,264 (GRCm39)	missense	probably damaging	1.00
R9000:Adam5	UTSW	8	25,294,372 (GRCm39)	critical splice donor site	probably null
R9442:Adam5	UTSW	8	25,296,510 (GRCm39)	missense	probably damaging	0.96
R9474:Adam5	UTSW	8	25,237,540 (GRCm39)	missense	possibly damaging	0.95
R9602:Adam5	UTSW	8	25,303,402 (GRCm39)	missense	probably damaging	0.96
R9748:Adam5	UTSW	8	25,301,068 (GRCm39)	missense	probably benign	0.23
X0019:Adam5	UTSW	8	25,302,459 (GRCm39)	missense	probably benign	0.00
X0022:Adam5	UTSW	8	25,303,579 (GRCm39)	critical splice acceptor site	probably null
X0027:Adam5	UTSW	8	25,308,788 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16