Mutagenetix > Incidental Mutation

Incidental Mutation 'R1836:Adam28'

205333

Institutional Source

Beutler Lab

Gene Symbol

Adam28

Ensembl Gene

ENSMUSG00000014725

Gene Name

a disintegrin and metallopeptidase domain 28

Synonyms

D430033C21Rik, C130072N01Rik, MDC-L, Dtgn1

MMRRC Submission

039863-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R1836 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68649421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 48 (E48G)

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039] [ENSMUST00000225767]

AlphaFold

Q9JLN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022642
AA Change: E48G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: E48G

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

possibly damaging
Transcript: ENSMUST00000111072
AA Change: E48G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: E48G

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

possibly damaging
Transcript: ENSMUST00000224039
AA Change: E48G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224131

Predicted Effect

probably benign
Transcript: ENSMUST00000225767

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,867	V103A	probably damaging	Het
2210408I21Rik	A	G	13: 77,323,374	E966G	probably benign	Het
7420426K07Rik	C	A	9: 98,903,482	R67S	probably benign	Het
9330159F19Rik	T	C	10: 29,221,799	V64A	probably damaging	Het
Abcb5	G	T	12: 118,867,961	Q1219K	possibly damaging	Het
Acox2	A	T	14: 8,248,059	C408S	possibly damaging	Het
Acsf3	T	A	8: 122,780,183	Y72N	probably damaging	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adgrv1	A	C	13: 81,504,113	M2957R	probably benign	Het
Adi1	C	A	12: 28,679,563	D138E	probably benign	Het
Alk	A	C	17: 71,891,037	L1228R	probably damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Arhgef2	C	T	3: 88,639,459	T545I	probably damaging	Het
Atp8a2	T	A	14: 60,006,366	N630I	possibly damaging	Het
Bcl9	G	T	3: 97,205,870	Q1090K	probably damaging	Het
Bdp1	A	G	13: 100,035,145	S2152P	probably benign	Het
Birc6	T	A	17: 74,614,390	S2155T	probably benign	Het
Camk2b	T	C	11: 5,972,384	E488G	probably damaging	Het
Capn9	T	A	8: 124,605,565		probably null	Het
Cd209f	A	G	8: 4,104,491	S119P	probably damaging	Het
Cep78	T	C	19: 15,969,169	E433G	probably damaging	Het
Chid1	G	T	7: 141,526,496		probably null	Het
Cldnd2	T	C	7: 43,442,925	S129P	possibly damaging	Het
Cobll1	A	T	2: 65,126,236	F289Y	probably damaging	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Creb3l4	G	T	3: 90,238,903	S182Y	probably benign	Het
Dgcr2	A	T	16: 17,849,720	C292S	probably damaging	Het
Dnah8	T	C	17: 30,874,927	V4665A	possibly damaging	Het
Dnah9	A	T	11: 66,118,841	M740K	probably benign	Het
Dnmt1	G	A	9: 20,918,246	T687I	probably damaging	Het
Ece1	C	T	4: 137,958,001	R601W	probably damaging	Het
Echdc2	C	A	4: 108,165,535	R3S	probably damaging	Het
Ep400	A	T	5: 110,705,054	L1275Q	unknown	Het
Epha6	A	T	16: 60,205,745	W445R	probably damaging	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Fam228a	T	G	12: 4,715,620	T264P	probably damaging	Het
Fzd6	T	A	15: 39,033,920	I488N	probably damaging	Het
Gabrg3	T	G	7: 56,729,641	N338H	probably damaging	Het
Gde1	A	G	7: 118,695,134	F39L	possibly damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm4781	T	A	10: 100,396,720		noncoding transcript	Het
Gm4846	T	A	1: 166,483,923	T456S	probably benign	Het
Gm5415	T	G	1: 32,545,677	D384A	probably damaging	Het
Gpx5	A	G	13: 21,287,454	I193T	probably benign	Het
Herc2	A	T	7: 56,155,105	K2294*	probably null	Het
Hist1h3b	T	A	13: 23,752,732	V118D	probably damaging	Het
Iqgap3	T	A	3: 88,108,368	V19D	probably damaging	Het
Itga5	T	C	15: 103,346,014	I1006V	probably damaging	Het
Lamb1	C	T	12: 31,301,094	T781I	probably benign	Het
Lias	A	G	5: 65,392,343	T57A	probably benign	Het
Lin37	C	A	7: 30,556,943	R108L	probably damaging	Het
Lrrd1	A	T	5: 3,865,709	T769S	probably benign	Het
Mamstr	T	C	7: 45,644,963	W414R	probably damaging	Het
Mtmr11	T	G	3: 96,164,786	S233R	probably damaging	Het
Myh1	A	T	11: 67,204,822	I266F	probably damaging	Het
Myt1	C	A	2: 181,797,275	Q197K	probably benign	Het
Naip5	G	T	13: 100,219,687	T1140K	probably benign	Het
Ncf2	G	A	1: 152,808,071	V14M	probably damaging	Het
Nhsl1	G	T	10: 18,524,905	R626S	possibly damaging	Het
Nol12	T	A	15: 78,937,889	V108E	probably damaging	Het
Nr1i2	G	T	16: 38,249,282	P420Q	probably damaging	Het
Nup155	A	G	15: 8,154,980	I1286M	possibly damaging	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr1257	A	C	2: 89,881,285	H153P	probably damaging	Het
Olfr64	A	G	7: 103,893,385	S117P	probably damaging	Het
Olfr993	A	G	2: 85,414,405	V158A	probably benign	Het
Pard3b	C	T	1: 62,637,604	S999L	probably benign	Het
Pax9	A	G	12: 56,700,054	E225G	probably benign	Het
Pdcd4	T	G	19: 53,926,219	L335R	probably damaging	Het
Pdgfra	T	A	5: 75,183,014	M732K	possibly damaging	Het
Pkhd1	G	T	1: 20,117,069	Q3672K	probably benign	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Pom121l2	A	T	13: 21,983,784	T742S	probably benign	Het
Ppfia1	C	T	7: 144,519,631	E208K	probably benign	Het
Prex2	A	T	1: 11,136,780	R521W	probably damaging	Het
Rhpn2	T	C	7: 35,372,388	L226P	probably benign	Het
Rps12	C	A	10: 23,785,629	D95Y	probably damaging	Het
Sardh	T	A	2: 27,215,182	D643V	possibly damaging	Het
Sars	T	C	3: 108,435,944	D77G	probably benign	Het
Scin	C	A	12: 40,124,698	V129F	probably damaging	Het
Sftpa1	T	A	14: 41,132,846	M66K	possibly damaging	Het
Sgo1	T	C	17: 53,687,771	K28E	probably damaging	Het
Sim2	G	T	16: 94,123,577		probably null	Het
Srp54b	T	A	12: 55,250,160		probably null	Het
Stard7	T	C	2: 127,295,560	V310A	probably benign	Het
Tasp1	T	C	2: 139,951,557	D233G	probably damaging	Het
Tdrd6	G	T	17: 43,625,589	L1523M	probably benign	Het
Tle3	A	G	9: 61,414,023	D639G	probably damaging	Het
Tmem128	A	G	5: 38,260,406	D2G	probably damaging	Het
Tmem163	A	G	1: 127,677,509	S41P	probably benign	Het
Ttn	C	T	2: 76,729,161	S29632N	probably damaging	Het
Tuba4a	A	G	1: 75,216,110	S287P	probably benign	Het
Ubn1	G	C	16: 5,077,391	G767A	probably benign	Het
Ugdh	A	T	5: 65,420,291	C288*	probably null	Het
Upf2	T	A	2: 6,050,324		probably null	Het
Vmn1r2	T	C	4: 3,172,836	S252P	probably damaging	Het
Vmn1r28	A	C	6: 58,265,252	T27P	probably damaging	Het
Vmn1r77	T	C	7: 12,041,411	I38T	probably benign	Het
Vmn2r51	C	A	7: 10,098,163	E499*	probably null	Het
Vmn2r51	G	T	7: 10,098,164	Y498*	probably null	Het
Vmn2r53	A	T	7: 12,600,885	W283R	probably damaging	Het
Vpreb1	T	A	16: 16,869,069	T15S	probably benign	Het
Vps13b	T	C	15: 35,910,232	S3381P	probably damaging	Het
Wnt2	A	T	6: 18,023,235	D138E	probably damaging	Het
Zdhhc22	A	G	12: 86,983,430	V248A	probably benign	Het
Zfp30	T	A	7: 29,793,380	I434N	probably damaging	Het
Zfp316	A	G	5: 143,253,423	L947P	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
IGL03180:Adam28	APN	14	68637434	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCAAAGTCTGCACTCACTAGCC -3'
(R):5'- GAACCACTGACATAAATCACTGGAG -3'

Sequencing Primer
(F):5'- GCACTCACTAGCCAATTTAGTTGTG -3'
(R):5'- CATAAATCACTGGAGGCCTCTGTG -3'

Posted On

2014-06-23