Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Adam28'

311150

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

040941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68610994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 671 (V671A)

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

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

AlphaFold

Q9JLN6

Predicted Effect

probably benign
Transcript: ENSMUST00000022642
AA Change: V671A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: V671A

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
AA Change: V671A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: V671A

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
AA Change: V671A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230006

Meta Mutation Damage Score

0.4071

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 138,183,674	T61A	probably benign	Het
Ankhd1	A	T	18: 36,647,613	H1906L	probably damaging	Het
Ano5	G	A	7: 51,587,806	V743I	probably benign	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
Arid2	A	G	15: 96,363,622	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,996,933		probably null	Het
Azin1	A	T	15: 38,498,713	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,962,412	T1662A	probably benign	Het
Cog8	T	A	8: 107,053,037	I203F	probably damaging	Het
Col6a6	T	C	9: 105,698,879	H2094R	probably damaging	Het
Cybb	T	C	X: 9,444,588	Y425C	probably damaging	Het
Dab2	A	G	15: 6,435,163		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,897,088		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,897,089		probably benign	Het
Eif3i	T	C	4: 129,592,336	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,225,035	M402L	probably benign	Het
Fga	A	T	3: 83,030,183		probably null	Het
Foxp2	A	G	6: 15,197,208		probably benign	Het
Gbp2	C	T	3: 142,629,986	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,943,568	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,517,850	T136I	probably benign	Het
Gprc5b	C	T	7: 118,984,131	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
Hdlbp	T	C	1: 93,421,351	I535V	probably damaging	Het
Helb	A	G	10: 120,089,625	V949A	probably benign	Het
Hoxc13	T	C	15: 102,921,240	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Il27ra	G	A	8: 84,040,684	T170I	probably benign	Het
Insm2	T	C	12: 55,600,838	Y456H	probably benign	Het
Katna1	T	C	10: 7,752,754	M249T	probably damaging	Het
Lin9	T	A	1: 180,668,792	I298N	possibly damaging	Het
Lyst	G	A	13: 13,634,168	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,377,931	D685E	probably damaging	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Olfr485	A	G	7: 108,159,612	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,073,685	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,192,254	I13T	probably benign	Het
Psmd1	T	C	1: 86,128,187	M757T	probably benign	Het
Rdh19	A	T	10: 127,850,075	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,615,111	T296A	possibly damaging	Het
Rgl2	G	A	17: 33,935,162	R472H	probably benign	Het
Rhcg	T	C	7: 79,617,399	E43G	probably benign	Het
Rif1	T	A	2: 52,116,747		probably null	Het
Rorb	A	G	19: 18,937,890	V468A	probably benign	Het
Rxrb	C	T	17: 34,036,326	P209L	possibly damaging	Het
Sbf2	G	T	7: 110,329,885	T1438K	probably benign	Het
Setd3	A	T	12: 108,157,942	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,489,827	D110N	probably benign	Het
Slc26a3	T	A	12: 31,465,860		probably null	Het
Slc5a5	A	G	8: 70,889,395	V305A	probably benign	Het
Slc6a6	A	T	6: 91,755,052	M621L	probably benign	Het
Smgc	A	T	15: 91,860,348	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,035,160	D172G	possibly damaging	Het
Syt15	T	A	14: 34,223,104	C203S	probably benign	Het
Tdrd1	A	G	19: 56,866,634	R1171G	probably benign	Het
Trp63	A	G	16: 25,820,740		probably benign	Het
Tspan9	A	G	6: 127,967,247	V30A	probably damaging	Het
Ubp1	A	T	9: 113,956,705		probably null	Het
Vmn2r68	T	A	7: 85,232,462	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,653,957		probably null	Het
Wee1	G	T	7: 110,124,555	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,284	G36D	probably damaging	Het
Zmym6	T	C	4: 127,123,555	I951T	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
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
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'- TCTGAAGGATTAAGTCATAGACTCC -3'
(R):5'- TCCAGTGAGACAGGTTCATTTGG -3'

Sequencing Primer
(F):5'- CTCCAATGTCAGATGAAGTAGATGAC -3'
(R):5'- TAAGGCTATCCTGGGCTACATGAC -3'

Posted On

2015-04-29