Mutagenetix > Incidental Mutation

Incidental Mutation 'R6831:Adam28'

537871

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R6831 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68618127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 630 (A630T)

Ref Sequence

ENSEMBL: ENSMUSP00000106701 (fasta)

Gene Model

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

AlphaFold

Q9JLN6

Predicted Effect

probably benign
Transcript: ENSMUST00000022642
AA Change: A630T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: A630T

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: A630T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: A630T

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: A630T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	G	10: 29,224,679	D349E	probably benign	Het
Akr1cl	C	T	1: 65,014,672		probably null	Het
Alcam	A	G	16: 52,309,901	Y29H	probably benign	Het
Alg3	A	T	16: 20,608,747	S25T	probably damaging	Het
Amdhd1	T	G	10: 93,527,256	L323F	probably damaging	Het
Apcdd1	C	A	18: 62,950,126	Y342*	probably null	Het
Aqp9	T	A	9: 71,162,420		probably benign	Het
Arhgef5	A	G	6: 43,280,999	T1326A	probably damaging	Het
B020004J07Rik	T	A	4: 101,836,897	Q263L	probably benign	Het
Cacna1a	T	C	8: 84,571,231	V1238A	probably damaging	Het
Cep128	T	C	12: 91,266,974	D440G	probably damaging	Het
Dnah5	G	C	15: 28,411,515	G3677R	possibly damaging	Het
Dst	T	A	1: 34,190,684	C2631S	probably benign	Het
E330034G19Rik	T	C	14: 24,296,095	S25P	probably benign	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fat3	C	A	9: 16,376,551	V559L	probably damaging	Het
Fra10ac1	A	T	19: 38,207,289	I162K	probably benign	Het
Glrx3	C	T	7: 137,459,222	T195M	possibly damaging	Het
Gm9268	G	C	7: 43,023,580	A143P	probably damaging	Het
Gm9949	T	A	18: 62,180,545		probably benign	Het
Hbs1l	T	C	10: 21,341,868	S228P	probably benign	Het
Hmcn1	G	A	1: 150,770,293	T718I	probably benign	Het
Igf1r	T	C	7: 68,207,319	S1010P	possibly damaging	Het
Inpp5d	T	A	1: 87,701,476	Y394*	probably null	Het
Itpr2	G	A	6: 146,112,429	T2623M	probably damaging	Het
Kif21b	T	A	1: 136,144,758	C67*	probably null	Het
Lama1	T	A	17: 67,756,754	C758S	possibly damaging	Het
Mdga1	T	A	17: 29,887,516	K274*	probably null	Het
Neu2	G	A	1: 87,596,733	G147R	probably damaging	Het
Nkx1-1	A	T	5: 33,433,803	S58R	unknown	Het
Olfr677	A	G	7: 105,056,879	D211G	possibly damaging	Het
Olfr698	A	T	7: 106,752,571	N272K	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pacs1	T	A	19: 5,160,795	I151F	probably damaging	Het
Pamr1	C	T	2: 102,614,931	R270C	probably damaging	Het
Pclo	C	T	5: 14,788,429	Q1417*	probably null	Het
Pkm	G	C	9: 59,675,115	M409I	probably benign	Het
Plbd2	T	A	5: 120,493,066	K215N	probably benign	Het
Polk	T	C	13: 96,495,491	K245E	possibly damaging	Het
Prl	T	G	13: 27,059,547	I65S	probably benign	Het
Proser3	T	C	7: 30,540,356	H441R	probably benign	Het
Psmb3	A	G	11: 97,706,902	K98R	probably benign	Het
Ptpn20	T	C	14: 33,632,925	V319A	probably damaging	Het
Ptprj	A	T	2: 90,460,647	Y397N	probably damaging	Het
Rp1	T	C	1: 4,349,864		probably null	Het
Sgsm1	T	A	5: 113,280,380	Y314F	probably damaging	Het
Sh3pxd2a	G	A	19: 47,283,093	R244C	probably damaging	Het
Sspo	G	A	6: 48,484,833	V3466M	possibly damaging	Het
Syne2	T	A	12: 75,966,794	F2921I	probably benign	Het
Trank1	T	A	9: 111,377,899	M1700K	probably benign	Het
Trmt112	T	A	19: 6,910,195	L4H	probably damaging	Het
Trmu	A	G	15: 85,895,006	T285A	probably benign	Het
Ttn	A	G	2: 76,771,502		probably null	Het
Zc3hav1	A	T	6: 38,332,168	M573K	probably benign	Het
Zcchc8	T	C	5: 123,700,909	E522G	probably damaging	Het
Zfp354a	T	C	11: 51,070,554	S529P	probably damaging	Het
Zfp735	G	A	11: 73,710,608	G126D	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
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
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'- CCATCCTATATCCTCCTAGAGTGTC -3'
(R):5'- ACCTGCTAGTGTTTTCCTAATAAAAT -3'

Sequencing Primer
(F):5'- TCCTCCTAGAGTGTCAGATAAGC -3'
(R):5'- TTGACCATACTCTAGTGGAAGGCC -3'

Posted On

2018-10-18