Mutagenetix > Incidental Mutation

Incidental Mutation 'R0321:Adam28'

35886

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

038531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0321 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68617751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 647 (Q647R)

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: Q647R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: Q647R

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: Q647R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: Q647R

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: Q647R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230006

Meta Mutation Damage Score

0.2986

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,700	T353A	probably benign	Het
4932438A13Rik	T	C	3: 36,906,788		probably null	Het
4933402N03Rik	T	A	7: 131,146,227	Y12F	probably benign	Het
Acbd3	T	G	1: 180,752,305	F505V	probably damaging	Het
Acod1	T	C	14: 103,055,129	V363A	probably benign	Het
Akr1c18	T	A	13: 4,135,244	L296F	probably damaging	Het
Ap1b1	G	A	11: 5,032,464	A588T	probably benign	Het
Armc8	A	T	9: 99,533,177	I150K	probably damaging	Het
Bahcc1	T	C	11: 120,273,425		probably null	Het
Carmil3	C	A	14: 55,502,241	D928E	possibly damaging	Het
Ccrl2	T	C	9: 111,056,211	N73S	probably damaging	Het
Cdk9	C	A	2: 32,712,686		probably benign	Het
Cel	G	T	2: 28,561,148	Q66K	probably benign	Het
D930028M14Rik	T	A	7: 25,155,566		noncoding transcript	Het
Dgka	G	C	10: 128,721,083		probably benign	Het
Dlg1	T	C	16: 31,858,036	V801A	probably damaging	Het
Dnah10	A	G	5: 124,823,352	D3834G	probably benign	Het
Dnajc15	C	T	14: 77,874,833	A23T	possibly damaging	Het
Ell2	T	A	13: 75,761,888	L119Q	probably damaging	Het
Epha2	T	C	4: 141,308,405	W51R	probably damaging	Het
F10	T	C	8: 13,053,413	F266L	possibly damaging	Het
Fam110a	T	C	2: 151,970,667	N61S	probably benign	Het
Fam83c	C	T	2: 155,829,700	S605N	probably benign	Het
Fbxw15	C	T	9: 109,565,385	V121I	probably benign	Het
Gart	G	A	16: 91,623,037		probably benign	Het
Gfi1b	A	G	2: 28,613,885	F101S	probably damaging	Het
Gimap5	C	G	6: 48,750,515		probably benign	Het
Gpr180	T	C	14: 118,148,287		probably null	Het
Gsn	T	C	2: 35,290,396	F188L	probably benign	Het
Hivep3	T	A	4: 120,095,591	I368N	possibly damaging	Het
Itih3	T	A	14: 30,912,106	I153F	probably damaging	Het
Kdm8	A	T	7: 125,461,006	Q360L	probably damaging	Het
Lars	T	C	18: 42,202,632	K1140E	probably damaging	Het
Mocs1	A	G	17: 49,433,258	Y71C	probably damaging	Het
Mroh5	C	T	15: 73,790,043	G433E	probably damaging	Het
Mrpl45	T	A	11: 97,326,938		probably benign	Het
Mtcl1	T	A	17: 66,379,431	T827S	probably damaging	Het
Muc5b	T	C	7: 141,862,235	S2973P	probably benign	Het
Mynn	T	C	3: 30,607,557	S263P	probably benign	Het
Myo1f	A	C	17: 33,593,012	D595A	probably benign	Het
Necab1	A	T	4: 14,960,083	I288N	probably damaging	Het
Nutm2	T	G	13: 50,472,955	M382R	probably damaging	Het
Oprm1	T	C	10: 6,829,183	S131P	probably damaging	Het
Pcsk9	A	G	4: 106,444,694	S619P	probably benign	Het
Phkg1	A	T	5: 129,869,524	M1K	probably null	Het
Pigc	C	T	1: 161,971,099	Q217*	probably null	Het
Pik3r4	T	A	9: 105,648,707	F259I	probably damaging	Het
Pkdcc	A	T	17: 83,222,112		probably benign	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prtg	A	T	9: 72,848,025	I259F	possibly damaging	Het
Prune2	T	G	19: 17,120,927	L1265R	possibly damaging	Het
Prune2	C	T	19: 17,122,454	A1774V	probably benign	Het
Rcn3	A	G	7: 45,088,715		probably benign	Het
Rnf213	C	T	11: 119,438,105	Q2067*	probably null	Het
Sec14l1	T	A	11: 117,150,742		probably benign	Het
Serpinb3a	C	T	1: 107,047,482	W198*	probably null	Het
Smpdl3b	A	T	4: 132,741,444	V154E	probably damaging	Het
Spag17	T	C	3: 100,101,403	S1950P	probably damaging	Het
Sprr1a	T	C	3: 92,484,302	T131A	probably benign	Het
Tatdn2	T	G	6: 113,709,501	L690W	probably damaging	Het
Tbc1d1	T	C	5: 64,339,594	F864L	probably damaging	Het
Tmem8b	C	A	4: 43,674,444	R243S	probably damaging	Het
Tnfrsf11a	T	A	1: 105,844,857	C623*	probably null	Het
Tprgl	T	C	4: 154,159,355	N115D	probably damaging	Het
Ube2t	C	T	1: 134,967,800	A4V	possibly damaging	Het
Vps41	G	A	13: 18,842,295		probably benign	Het
Wdr17	C	T	8: 54,696,268		probably null	Het
Wwc1	G	A	11: 35,841,810	Q1024*	probably null	Het
Zfand5	T	A	19: 21,276,515	N27K	probably damaging	Het
Zfp142	A	T	1: 74,569,714	C1641S	probably damaging	Het
Zfyve16	A	G	13: 92,492,534	I1465T	probably damaging	Het
Zswim1	G	A	2: 164,826,027	G400S	probably benign	Het
Zswim3	C	T	2: 164,820,359	A253V	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGGGGTTGGATAGCACATGTTCTGTA -3'
(R):5'- CATCTTGGCAGAGGCAAGCCAACAAA -3'

Sequencing Primer
(F):5'- actgtgaccccaaataagcc -3'
(R):5'- GCCAACAAAGCAGGGGTC -3'

Posted On

2013-05-09