Mutagenetix > Incidental Mutations

Incidental Mutation 'R4282:Adam28'

322963

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

041650-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R4282 (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 68647706 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 65 (V65A)

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022642
AA Change: V65A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: V65A

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: V65A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: V65A

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: V65A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224131

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (59/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080O16Rik	T	C	X: 51,968,990	Y273C	probably damaging	Het
1700092K14Rik	A	C	11: 114,199,144		noncoding transcript	Het
4930415L06Rik	A	T	X: 89,932,499	W31R	probably damaging	Het
Abca17	G	T	17: 24,299,060	D758E	possibly damaging	Het
Adgra2	T	A	8: 27,119,244	M616K	possibly damaging	Het
Aldh3b2	A	G	19: 3,977,636	D59G	probably benign	Het
Ankrd28	A	G	14: 31,745,225	V260A	possibly damaging	Het
Bbs7	A	G	3: 36,573,571	V689A	probably damaging	Het
Cacna1e	A	G	1: 154,426,550	F1653S	probably benign	Het
Cd55b	T	C	1: 130,416,859	D213G	probably damaging	Het
Colgalt2	G	A	1: 152,468,531	V115M	probably damaging	Het
Ddx60	T	C	8: 61,994,393	V1138A	probably damaging	Het
Defa27	A	G	8: 21,315,616	N24S	probably benign	Het
Defb40	A	G	8: 18,978,077	S14P	probably damaging	Het
Dnmt3a	G	A	12: 3,901,665	G681R	probably damaging	Het
Dus2	C	T	8: 106,048,654	A271V	probably benign	Het
Fabp3	C	T	4: 130,312,452		probably null	Het
Fancg	T	C	4: 43,003,830	D533G	probably damaging	Het
Frem3	T	C	8: 80,614,141	V1021A	probably benign	Het
Gmip	T	A	8: 69,813,601		probably benign	Het
Hspb6	T	C	7: 30,553,464	S44P	possibly damaging	Het
Jsrp1	T	C	10: 80,810,356	I50V	probably benign	Het
Kansl1	T	C	11: 104,378,689	N476S	probably benign	Het
Kcnq2	T	C	2: 181,081,153	D810G	probably damaging	Het
Maml2	C	A	9: 13,620,110	L207I	possibly damaging	Het
Myo3a	A	T	2: 22,340,278	E508D	probably benign	Het
Nav1	T	A	1: 135,457,913		probably benign	Het
Ndrg3	A	T	2: 156,948,294	C90S	possibly damaging	Het
Orc1	A	G	4: 108,606,274	S663G	probably benign	Het
Pcdhb14	T	A	18: 37,450,142	L767H	probably damaging	Het
Pcgf1	T	A	6: 83,079,733	L90Q	probably damaging	Het
Pnma5	T	C	X: 73,035,430	M549V	probably benign	Het
Por	C	A	5: 135,715,961	T26K	possibly damaging	Het
Qsox1	T	A	1: 155,786,925		probably null	Het
Rad51ap2	T	A	12: 11,456,464	V129D	probably benign	Het
Rec8	A	G	14: 55,618,634	H11R	probably damaging	Het
Rxfp2	T	G	5: 150,070,270	V585G	possibly damaging	Het
Sftpd	G	A	14: 41,172,580	T294I	probably benign	Het
Sh3gl1	A	G	17: 56,036,456	S2P	probably damaging	Het
Slc38a10	A	T	11: 120,129,264	F321I	probably damaging	Het
Slc4a10	T	A	2: 62,244,343		probably null	Het
Slco6b1	A	G	1: 96,997,390		noncoding transcript	Het
Slit1	T	C	19: 41,614,417	E985G	probably benign	Het
Smurf1	C	T	5: 144,882,593	E575K	probably damaging	Het
Sned1	A	T	1: 93,285,855	R426*	probably null	Het
Tas2r123	G	A	6: 132,848,045	V302I	possibly damaging	Het
Tmem182	T	C	1: 40,838,370	I135T	probably damaging	Het
Tmem67	T	C	4: 12,073,922	Y298C	probably damaging	Het
Trappc9	A	G	15: 72,590,792	C1026R	probably damaging	Het
Troap	A	G	15: 99,078,832	D279G	probably benign	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Vmn1r23	T	C	6: 57,926,467	T109A	probably benign	Het
Vmn2r25	A	T	6: 123,823,647	C579S	probably damaging	Het
Zbtb18	A	G	1: 177,447,479	D126G	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
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
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
Z1177:Adam28	UTSW	14	68626784	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATCTGTCCATCGGCACCTC -3'
(R):5'- CCTGTGGTCTAGACAGATAGTTGG -3'

Sequencing Primer
(F):5'- AAATTCACCGACTCCTTGGG -3'
(R):5'- GTCTAGACAGATAGTTGGTCTCACC -3'

Posted On

2015-06-20