Mutagenetix > Incidental Mutation

Incidental Mutation 'R0732:Adam28'

67688

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

038913-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R0732 (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 68637347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 294 (I294V)

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: I294V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: I294V

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: I294V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: I294V

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: I294V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224131

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,546,448	Y1175C	probably damaging	Het
Acsm3	T	C	7: 119,773,834	S187P	probably benign	Het
Adgrv1	T	C	13: 81,503,004	I3057M	possibly damaging	Het
Aff4	T	C	11: 53,375,596	V304A	probably benign	Het
Akr1b10	T	C	6: 34,390,109	Y108H	probably benign	Het
Ankib1	T	C	5: 3,713,163	N522S	possibly damaging	Het
Ano1	T	A	7: 144,619,488		probably null	Het
Antxr2	G	T	5: 97,960,708		probably null	Het
Arc	G	A	15: 74,671,195	T393I	probably damaging	Het
Arhgef33	A	G	17: 80,381,354	D5G	possibly damaging	Het
Atf2	A	T	2: 73,845,500	M169K	possibly damaging	Het
BC005624	T	A	2: 30,973,937	T215S	possibly damaging	Het
BC048403	T	C	10: 121,750,947	V253A	possibly damaging	Het
Bmp8b	G	A	4: 123,105,406	G19D	unknown	Het
Cacna1d	T	C	14: 30,042,920	N1987S	probably damaging	Het
Camta1	T	A	4: 151,586,484		probably null	Het
Catsperg2	C	T	7: 29,700,696	G316D	probably damaging	Het
Cbs	G	T	17: 31,625,029	N209K	probably benign	Het
Ccdc122	T	A	14: 77,091,759	M84K	probably damaging	Het
Cd5	C	T	19: 10,723,285	C285Y	probably damaging	Het
Chpf2	T	C	5: 24,590,421	M1T	probably null	Het
Coch	T	A	12: 51,595,372	D42E	probably damaging	Het
Crip2	C	T	12: 113,140,558		probably benign	Het
Crlf2	G	C	5: 109,557,138	P67R	probably damaging	Het
Cxcl16	G	T	11: 70,455,408	P233H	probably damaging	Het
Cyfip1	T	C	7: 55,886,781	I319T	probably damaging	Het
Ddhd2	T	C	8: 25,741,321	Q364R	probably damaging	Het
Ephx2	A	G	14: 66,086,963		probably null	Het
Exoc6b	C	A	6: 84,855,522	V397L	probably damaging	Het
Fam83b	T	A	9: 76,492,928	K298*	probably null	Het
Fbxo8	T	A	8: 56,591,529	I289N	probably damaging	Het
Fkbp9	T	A	6: 56,878,104	M536K	probably benign	Het
Flot1	C	T	17: 35,825,524	R190W	possibly damaging	Het
Gbp2b	T	A	3: 142,606,978	V374E	probably benign	Het
Gm884	T	C	11: 103,619,838	T435A	unknown	Het
Gna15	T	A	10: 81,512,556	S114C	probably damaging	Het
Gstt4	T	A	10: 75,817,321	T136S	probably benign	Het
Hcn3	C	T	3: 89,148,786	V524M	probably damaging	Het
Kctd16	A	T	18: 40,258,563	D68V	probably damaging	Het
Krt90	G	T	15: 101,560,425	F227L	possibly damaging	Het
Maip1	A	G	1: 57,411,835	Y212C	probably damaging	Het
Mamdc2	C	T	19: 23,378,869	D72N	probably damaging	Het
Marveld3	A	T	8: 109,948,483	Y234N	probably damaging	Het
Mas1	A	G	17: 12,841,747	I263T	probably benign	Het
Matk	T	A	10: 81,258,306		probably null	Het
Mrgpre	T	A	7: 143,781,566	I67F	possibly damaging	Het
Mthfd1	T	A	12: 76,294,174	I449N	probably damaging	Het
Nacc1	C	T	8: 84,676,201	R321Q	probably damaging	Het
Neb	T	C	2: 52,258,681	D2618G	probably damaging	Het
Neb	T	C	2: 52,291,268	Y1109C	probably damaging	Het
Nell1	T	G	7: 50,856,387	W781G	probably damaging	Het
Olfr1037	A	C	2: 86,085,584	S64R	probably benign	Het
Olfr1269	A	G	2: 90,119,322	V92A	probably benign	Het
Olfr1279	T	A	2: 111,306,980	Y258*	probably null	Het
Olfr281	T	C	15: 98,457,078	L256S	possibly damaging	Het
Olfr424	A	T	1: 174,137,415	I224F	possibly damaging	Het
Olfr497	C	A	7: 108,422,577	A2D	probably benign	Het
Olfr544	T	C	7: 102,484,443	I226V	probably benign	Het
Olfr646	T	C	7: 104,106,294	L5P	probably damaging	Het
Pcdh7	C	A	5: 57,721,315	D737E	probably damaging	Het
Pdss1	T	G	2: 22,901,312	M55R	probably benign	Het
Pex6	C	T	17: 46,724,700	R889W	probably damaging	Het
Pigl	T	A	11: 62,458,481	C8S	possibly damaging	Het
Plekha7	A	T	7: 116,145,237	M585K	probably damaging	Het
Ppp1r1a	C	T	15: 103,533,087	M66I	possibly damaging	Het
Ptcd3	A	T	6: 71,881,171		probably benign	Het
Rhov	A	T	2: 119,271,014	V37E	probably damaging	Het
Rnf213	A	T	11: 119,441,068	M2368L	probably damaging	Het
Skida1	T	C	2: 18,046,157		probably benign	Het
Slc25a28	T	C	19: 43,666,953	D161G	probably benign	Het
Smc6	T	C	12: 11,290,817	V490A	probably damaging	Het
Sohlh2	T	A	3: 55,190,373		probably null	Het
Stk31	A	G	6: 49,417,495	T264A	probably benign	Het
Syngap1	T	A	17: 26,954,988	S190R	possibly damaging	Het
Tacr1	T	A	6: 82,552,901	V200E	probably damaging	Het
Tbrg4	C	T	11: 6,620,812	R220H	probably benign	Het
Tcf20	A	G	15: 82,852,303	L1649P	probably benign	Het
Tcirg1	A	T	19: 3,897,866	L523Q	possibly damaging	Het
Tinag	T	A	9: 77,001,654	K335M	possibly damaging	Het
Tkt	T	G	14: 30,571,140		probably null	Het
Tnpo1	C	T	13: 98,863,812	R349H	probably damaging	Het
Trim26	T	A	17: 36,852,618	S230R	possibly damaging	Het
Trim8	T	A	19: 46,514,739		probably null	Het
Trp53bp1	T	C	2: 121,248,264	R326G	probably null	Het
Ugt2a2	A	T	5: 87,460,639	I613N	probably damaging	Het
Vmn1r32	T	C	6: 66,553,706	I29V	probably benign	Het
Wnt5b	C	T	6: 119,446,582	W27*	probably null	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
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'- GGCTAAAGTCAATCAGAGCCCCAATTC -3'
(R):5'- TGGAGAAGTCCAATAATGCTCAAGGTG -3'

Sequencing Primer
(F):5'- AATCAGAGCCCCAATTCCTTTTTTC -3'
(R):5'- GTCCAATAATGCTCAAGGTGATAAAG -3'

Posted On

2013-09-03