Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Adam28'

412176

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 #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68637434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 265 (I265L)

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

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

AlphaFold

Q9JLN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022642
AA Change: I265L

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

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: I265L

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 damaging
Transcript: ENSMUST00000111072
AA Change: I265L

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

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: I265L

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 damaging
Transcript: ENSMUST00000224039
AA Change: I265L

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,175,635	Y321H	probably benign	Het
Adcy8	T	C	15: 64,783,950	D560G	possibly damaging	Het
Aff3	A	G	1: 38,535,662	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,775,330		probably null	Het
Aspn	C	T	13: 49,563,515	R256W	probably damaging	Het
Birc6	T	C	17: 74,659,231	V4051A	probably benign	Het
Cfap46	G	A	7: 139,603,252	L2584F	unknown	Het
Chdh	T	A	14: 30,034,602		probably null	Het
Clasp1	A	G	1: 118,505,525	T245A	probably benign	Het
Clec4a1	G	A	6: 122,924,818	V70I	probably benign	Het
Cpt2	A	T	4: 107,906,960	S536T	probably damaging	Het
Dnah9	A	T	11: 65,886,639	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,029,551	F38Y	probably benign	Het
Eif4ebp2	T	C	10: 61,433,810	E117G	probably damaging	Het
Eif5b	T	C	1: 38,036,269	I609T	probably damaging	Het
Esam	G	A	9: 37,534,570	G135S	probably damaging	Het
Fut7	C	A	2: 25,425,453	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,853,329	K706M	probably damaging	Het
Grip2	A	G	6: 91,785,761		probably benign	Het
Gtf2ird2	A	G	5: 134,191,248	T22A	probably damaging	Het
Hadh	T	C	3: 131,271,884	I42V	probably benign	Het
Iqsec3	T	A	6: 121,413,508		probably benign	Het
Izumo3	G	A	4: 92,146,287		probably benign	Het
Ldlrad1	G	T	4: 107,217,835	C193F	probably damaging	Het
Lgals4	G	A	7: 28,837,628	G118R	probably damaging	Het
Map4k1	A	C	7: 28,988,085	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,386,912	P346Q	possibly damaging	Het
Mkl2	A	G	16: 13,398,332	K303E	probably damaging	Het
Nlrp14	T	A	7: 107,182,626	H343Q	probably benign	Het
Ogg1	T	G	6: 113,333,494		probably null	Het
Olfr1023	A	T	2: 85,887,396	M199L	probably benign	Het
Olfr361	C	T	2: 37,085,710	V13M	possibly damaging	Het
Pafah1b1	A	T	11: 74,683,518	C281S	possibly damaging	Het
Papss1	C	T	3: 131,607,382	R386W	probably damaging	Het
Pex5	A	G	6: 124,413,563		probably benign	Het
Pibf1	C	A	14: 99,133,344	Q261K	probably benign	Het
Plcb3	T	C	19: 6,956,153	S935G	probably benign	Het
Polg	A	G	7: 79,451,853		probably benign	Het
Ptpdc1	G	A	13: 48,586,077	T626I	probably damaging	Het
Rab34	A	T	11: 78,190,318	Y87F	probably damaging	Het
Rsrc1	T	G	3: 67,082,543		probably benign	Het
Ryr2	T	C	13: 11,568,563	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,676,234	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,085,742	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,436,285	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,868,575		probably null	Het
Sla	A	G	15: 66,789,720	I121T	probably benign	Het
Son	T	C	16: 91,657,008	L881S	probably damaging	Het
Srms	A	G	2: 181,212,780		probably benign	Het
Stoml1	T	C	9: 58,260,917	S304P	probably damaging	Het
Stt3a	T	C	9: 36,759,256	D73G	probably damaging	Het
Tmem206	G	T	1: 191,338,892	V82F	probably damaging	Het
Tpp1	T	C	7: 105,746,649	T558A	probably benign	Het
Trp53i13	T	C	11: 77,512,702		probably benign	Het
Vmn2r77	A	G	7: 86,801,635	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,765	D261G	probably damaging	Het
Wdr60	T	C	12: 116,218,865	S706G	probably benign	Het
Zfpm2	A	G	15: 41,101,394	K293R	probably 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
IGL03355:Adam28	APN	14	68634803	splice site	probably benign
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