Mutagenetix > Incidental Mutation

Incidental Mutation 'R6349:Adam28'

512465

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

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R6349 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68633172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 351 (I351V)

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: I351V

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: I351V

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: I351V

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: I351V

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: I351V

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012A03Rik	A	G	6: 32,051,660	Y9C	probably benign	Het
4930433I11Rik	A	C	7: 40,994,772	M622L	possibly damaging	Het
Abca8b	C	T	11: 109,934,718		probably null	Het
Adgrd1	A	C	5: 129,142,539		probably null	Het
Ank3	T	A	10: 69,979,439	I473N	probably damaging	Het
Ankrd6	A	T	4: 32,822,231	H179Q	probably damaging	Het
Ano6	A	G	15: 95,966,022	R808G	probably damaging	Het
Anxa8	A	T	14: 34,097,893	I280F	probably damaging	Het
Asb2	C	T	12: 103,345,859	M1I	probably null	Het
Astn1	C	T	1: 158,664,121	Q1023*	probably null	Het
Cast	T	A	13: 74,721,195	E542D	probably damaging	Het
Ccdc162	C	T	10: 41,694,400	E30K	probably damaging	Het
Ccdc87	T	C	19: 4,841,319	V613A	probably damaging	Het
Cdk13	T	C	13: 17,751,719	N832S	probably damaging	Het
Celsr1	T	A	15: 86,031,684	N696I	probably damaging	Het
Chd3	T	C	11: 69,364,031	E161G	possibly damaging	Het
Cxcr4	C	A	1: 128,589,277	V216F	possibly damaging	Het
Cyp4a10	A	G	4: 115,525,358	I282V	probably benign	Het
Deaf1	T	C	7: 141,322,950	T154A	possibly damaging	Het
Dido1	A	T	2: 180,660,701	D1803E	probably benign	Het
Dmxl2	T	C	9: 54,419,909	D944G	possibly damaging	Het
Dnah5	G	A	15: 28,238,511	V400M	probably damaging	Het
Fbxo15	A	G	18: 84,964,142	I240V	probably benign	Het
Fcrls	A	G	3: 87,252,496	C484R	probably damaging	Het
Fech	G	T	18: 64,470,785	Y164*	probably null	Het
Fer1l5	T	A	1: 36,411,274	W1175R	probably damaging	Het
Fgfrl1	T	C	5: 108,705,506	Y241H	probably damaging	Het
Flvcr2	T	C	12: 85,747,200	Y117H	probably benign	Het
Fsip2	T	A	2: 82,993,072	M6383K	probably benign	Het
Gcc2	T	A	10: 58,269,474	D141E	probably benign	Het
Glt1d1	A	C	5: 127,706,886	R301S	probably benign	Het
Hars	G	C	18: 36,783,054	A16G	probably benign	Het
Hmcn2	G	T	2: 31,388,373	G1696C	probably damaging	Het
Hydin	T	A	8: 110,418,459	L814*	probably null	Het
Izumo4	T	A	10: 80,702,717	M1K	probably null	Het
Kdm5d	T	A	Y: 916,847	M414K	probably damaging	Homo
Kif21b	G	A	1: 136,158,326	V812I	probably damaging	Het
Map3k7	A	G	4: 31,988,661	D270G	possibly damaging	Het
Mical3	A	G	6: 120,959,525	S1347P	probably benign	Het
Mras	T	A	9: 99,394,616	D67V	probably damaging	Het
Mtnr1b	A	T	9: 15,863,213	Y183*	probably null	Het
Muc16	A	T	9: 18,657,329	L1298Q	unknown	Het
Myh2	A	T	11: 67,193,003	I1536F	probably benign	Het
Olfr371	T	C	8: 85,231,158	I221T	possibly damaging	Het
Osmr	G	T	15: 6,821,063	D686E	probably benign	Het
Pah	T	A	10: 87,578,969	D394E	probably benign	Het
Pla1a	T	A	16: 38,417,124	S71C	probably benign	Het
Proc	T	A	18: 32,133,433	I114L	probably benign	Het
Psd	T	G	19: 46,313,387		probably null	Het
Psmb6	C	T	11: 70,527,538	Q226*	probably null	Het
Rnpepl1	A	T	1: 92,919,841	N717Y	probably damaging	Het
Rundc1	T	C	11: 101,434,162	S565P	probably benign	Het
Serpinb5	T	A	1: 106,881,765	S300R	probably benign	Het
Serpinf2	T	C	11: 75,432,431	D483G	probably damaging	Het
Sgsm3	T	C	15: 81,008,346	I291T	probably benign	Het
Smg6	T	A	11: 75,053,774	D116E	possibly damaging	Het
Srfbp1	G	T	18: 52,488,962	S365I	probably benign	Het
Stkld1	A	G	2: 26,945,860	T236A	probably benign	Het
Susd5	T	C	9: 114,095,802	V251A	probably benign	Het
Tcf25	A	G	8: 123,391,593	Y314C	probably damaging	Het
Tmem210	A	G	2: 25,289,036	D112G	possibly damaging	Het
Tubb2b	A	G	13: 34,127,545	Y422H	probably damaging	Het
Tyw1	T	C	5: 130,277,031	S332P	possibly damaging	Het
Vmn1r29	A	C	6: 58,307,427	Q44P	probably damaging	Het
Vrtn	T	C	12: 84,649,018	S181P	probably damaging	Het
Wdr76	T	A	2: 121,534,231	Y437N	possibly damaging	Het
Zc3h18	C	A	8: 122,408,286		probably benign	Het
Zfp287	G	T	11: 62,725,342	D174E	probably damaging	Het
Zfp800	A	T	6: 28,244,602	Y121*	probably null	Het
Zfyve19	T	A	2: 119,210,597	L57Q	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
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'- TCAAGTTATAAACATATGAGCTGGTTG -3'
(R):5'- ATATCACTGTTGGGTCTGTTGA -3'

Sequencing Primer
(F):5'- AGTACCAGGATACACAGC -3'
(R):5'- GAGTCCACTTTGTCTCATGTTGAAAC -3'

Posted On

2018-04-27