Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03355:Adam28'

419922

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam28

Ensembl Gene

ENSMUSG00000014725

Gene Name

a disintegrin and metallopeptidase domain 28

Synonyms

D430033C21Rik, C130072N01Rik, MDC-L, Dtgn1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

IGL03355

Quality Score

Status

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 68634803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]

AlphaFold

Q9JLN6

Predicted Effect

probably benign
Transcript: ENSMUST00000022642

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	158	5.5e-34	PFAM
Pfam:Reprolysin_4	205	387	1.5e-14	PFAM
Pfam:Reprolysin_5	205	388	9.7e-19	PFAM
Pfam:Reprolysin	206	402	5.6e-70	PFAM
Pfam:Reprolysin_2	226	392	1e-16	PFAM
Pfam:Reprolysin_3	230	353	1.2e-21	PFAM
DISIN	419	494	2.1e-36	SMART
ACR	495	623	1.84e-52	SMART
EGF	631	660	3.01e0	SMART
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	738	753	N/A	INTRINSIC
low complexity region	757	765	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111072

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	158	5.3e-34	PFAM
Pfam:Reprolysin_4	205	387	1.5e-14	PFAM
Pfam:Reprolysin_5	205	388	9.3e-19	PFAM
Pfam:Reprolysin	206	402	5.3e-70	PFAM
Pfam:Reprolysin_2	226	392	9.9e-17	PFAM
Pfam:Reprolysin_3	230	353	1.1e-21	PFAM
DISIN	419	494	2.1e-36	SMART
ACR	495	623	1.84e-52	SMART
EGF	631	660	3.01e0	SMART
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	738	753	N/A	INTRINSIC
low complexity region	757	765	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224131

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are typically membrane-anchored, although a form of this protein may be secreted. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein may bind to integrins and regulate lymphocyte migration by enhancing cell adhesion. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610002M06Rik	C	A	X: 107,788,283	V180F	possibly damaging	Het
Actrt1	T	C	X: 46,329,747	V213A	probably benign	Het
Apeh	T	C	9: 108,086,445	H557R	probably benign	Het
Atmin	T	A	8: 116,957,425	L608*	probably null	Het
B3gnt5	A	T	16: 19,769,153	M41L	probably benign	Het
Best3	T	C	10: 116,993,105	F97L	possibly damaging	Het
Col7a1	G	A	9: 108,978,160	V2486M	unknown	Het
Crym	T	C	7: 120,199,313		probably null	Het
Cubn	T	C	2: 13,478,057		probably null	Het
Dnah7b	A	G	1: 46,119,304	D349G	probably benign	Het
Eea1	T	C	10: 96,042,212		probably benign	Het
Emc1	C	T	4: 139,371,593		probably benign	Het
Eps8	T	C	6: 137,512,145		probably benign	Het
Ereg	A	G	5: 91,088,581		probably benign	Het
Faah	G	A	4: 116,002,528	P369S	probably benign	Het
Fam135a	A	T	1: 24,029,168	N703K	possibly damaging	Het
Frmpd1	T	C	4: 45,279,140	S622P	probably damaging	Het
Gm10030	A	G	9: 111,006,773		noncoding transcript	Het
Gpr179	A	T	11: 97,337,608	S1240R	possibly damaging	Het
Hax1	A	T	3: 89,997,447	H146Q	possibly damaging	Het
Ift46	A	G	9: 44,782,148	N31D	possibly damaging	Het
Kel	C	T	6: 41,698,887		probably null	Het
Khk	A	T	5: 30,929,560	I108L	probably benign	Het
Morc4	T	C	X: 139,849,682	N375S	probably null	Het
Mta3	A	T	17: 83,800,045		probably benign	Het
Nacc2	T	C	2: 26,062,237	K369R	probably damaging	Het
Nkap	T	C	X: 37,139,670		probably benign	Het
Obscn	A	T	11: 59,037,792	L6016Q	probably damaging	Het
Olfr25	A	T	9: 38,329,656	Q20L	probably benign	Het
Olfr589	T	C	7: 103,155,201	E182G	probably damaging	Het
Pde4c	T	A	8: 70,746,595	L182Q	probably damaging	Het
Pla2g10	G	T	16: 13,730,420		probably null	Het
Rap1gap2	T	A	11: 74,412,344	I426F	probably damaging	Het
Rbm33	C	A	5: 28,391,061		probably benign	Het
Rnf139	C	A	15: 58,900,032	D635E	probably benign	Het
Sar1a	T	C	10: 61,684,939	V15A	possibly damaging	Het
Scarb1	A	C	5: 125,289,702	S56A	probably benign	Het
Scn3a	T	C	2: 65,460,568	K1945E	possibly damaging	Het
Sec62	G	A	3: 30,809,922	G118R	unknown	Het
Sgce	T	A	6: 4,689,738	Q356L	probably damaging	Het
Slco4c1	A	T	1: 96,842,507	Y277*	probably null	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Sphkap	A	T	1: 83,280,503	I173N	probably damaging	Het
Spred3	C	T	7: 29,161,572	C394Y	unknown	Het
Stra6l	A	G	4: 45,873,689	D283G	probably benign	Het
Tipin	A	T	9: 64,288,124	Q4L	probably benign	Het
Tmprss11c	T	A	5: 86,231,871	I380F	probably benign	Het
Tymp	T	C	15: 89,375,016	D195G	possibly damaging	Het
Ugt2b34	T	A	5: 86,906,685	Y79F	probably benign	Het
Vmn2r16	T	A	5: 109,363,714	S596T	possibly damaging	Het
Wdhd1	A	G	14: 47,243,889	S1024P	possibly damaging	Het

Other mutations in Adam28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Adam28	APN	14	68622120	missense	possibly damaging	0.47
IGL00654:Adam28	APN	14	68649428	missense	probably benign	0.00
IGL01021:Adam28	APN	14	68642114	missense	probably benign
IGL01099:Adam28	APN	14	68637329	critical splice donor site	probably null
IGL01349:Adam28	APN	14	68611006	missense	probably benign	0.01
IGL01744:Adam28	APN	14	68607507	missense	probably benign	0.07
IGL01805:Adam28	APN	14	68642091	missense	probably benign	0.09
IGL02007:Adam28	APN	14	68633219	missense	possibly damaging	0.69
IGL02828:Adam28	APN	14	68646870	missense	possibly damaging	0.46
IGL03180:Adam28	APN	14	68637434	missense	probably damaging	1.00
IGL02980:Adam28	UTSW	14	68619806	missense	probably benign	0.01
PIT4453001:Adam28	UTSW	14	68634876	missense	probably benign	0.00
R0184:Adam28	UTSW	14	68637373	missense	probably benign	0.33
R0321:Adam28	UTSW	14	68617751	missense	probably damaging	0.97
R0329:Adam28	UTSW	14	68617739	missense	probably damaging	0.96
R0494:Adam28	UTSW	14	68630792	splice site	probably benign
R0605:Adam28	UTSW	14	68606600	unclassified	probably benign
R0732:Adam28	UTSW	14	68637347	missense	probably benign	0.00
R0959:Adam28	UTSW	14	68607938	missense	possibly damaging	0.93
R1319:Adam28	UTSW	14	68609129	missense	probably benign	0.28
R1745:Adam28	UTSW	14	68633171	missense	probably benign	0.04
R1836:Adam28	UTSW	14	68649421	missense	possibly damaging	0.85
R1838:Adam28	UTSW	14	68639210	missense	possibly damaging	0.53
R1839:Adam28	UTSW	14	68639210	missense	possibly damaging	0.53
R1850:Adam28	UTSW	14	68639195	missense	probably benign	0.01
R1912:Adam28	UTSW	14	68644331	missense	probably benign	0.24
R2830:Adam28	UTSW	14	68626914	missense	possibly damaging	0.65
R2889:Adam28	UTSW	14	68634845	missense	possibly damaging	0.85
R3977:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R3978:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R3979:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R4282:Adam28	UTSW	14	68647706	missense	possibly damaging	0.92
R4416:Adam28	UTSW	14	68622082	critical splice donor site	probably null
R4690:Adam28	UTSW	14	68642048	missense	probably benign	0.01
R4724:Adam28	UTSW	14	68626877	missense	probably damaging	0.99
R4768:Adam28	UTSW	14	68634815	missense	possibly damaging	0.46
R4883:Adam28	UTSW	14	68638103	missense	probably damaging	0.99
R5054:Adam28	UTSW	14	68617715	missense	probably damaging	1.00
R5710:Adam28	UTSW	14	68609908	missense	probably damaging	0.96
R5835:Adam28	UTSW	14	68655681	missense	possibly damaging	0.96
R6002:Adam28	UTSW	14	68642062	missense	probably benign
R6054:Adam28	UTSW	14	68642152	missense	probably benign	0.01
R6349:Adam28	UTSW	14	68633172	missense	probably benign	0.29
R6449:Adam28	UTSW	14	68630667	missense	probably benign	0.31
R6455:Adam28	UTSW	14	68633208	missense	probably damaging	1.00
R6831:Adam28	UTSW	14	68618127	missense	probably benign	0.04
R6833:Adam28	UTSW	14	68618127	missense	probably benign	0.04
R7212:Adam28	UTSW	14	68637397	missense	probably damaging	0.99
R7411:Adam28	UTSW	14	68626947	missense	probably damaging	1.00
R7422:Adam28	UTSW	14	68626877	missense	probably damaging	1.00
R7516:Adam28	UTSW	14	68630676	missense	probably damaging	1.00
R7649:Adam28	UTSW	14	68634833	missense	probably benign	0.12
R7765:Adam28	UTSW	14	68609106	critical splice donor site	probably null
R8469:Adam28	UTSW	14	68606580	missense	probably benign	0.16
R8520:Adam28	UTSW	14	68642083	missense	probably damaging	0.98
R9026:Adam28	UTSW	14	68609144	missense	probably benign	0.16
R9163:Adam28	UTSW	14	68629082	missense	probably damaging	0.98
R9264:Adam28	UTSW	14	68607465	missense	probably benign
R9304:Adam28	UTSW	14	68637497	missense	probably damaging	1.00
R9357:Adam28	UTSW	14	68642030	missense	probably benign	0.36
R9441:Adam28	UTSW	14	68637494	missense	probably damaging	0.96
Z1177:Adam28	UTSW	14	68626784	missense	probably damaging	1.00

Posted On

2016-08-02