Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Adam30'

544330

Institutional Source

Beutler Lab

Gene Symbol

Adam30

Ensembl Gene

ENSMUSG00000043468

Gene Name

a disintegrin and metallopeptidase domain 30

Synonyms

4933424D07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98160630-98164169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98162710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 620 (R620G)

Ref Sequence

ENSEMBL: ENSMUSP00000060505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050342] [ENSMUST00000198363]

AlphaFold

Q811Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000050342
AA Change: R620G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: R620G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	36	159	5.7e-20	PFAM
low complexity region	176	187	N/A	INTRINSIC
Pfam:Reprolysin	202	393	1.1e-31	PFAM
DISIN	407	482	1.6e-32	SMART
ACR	483	625	1.84e-52	SMART
transmembrane domain	690	712	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198363

SMART Domains

Protein: ENSMUSP00000142590
Gene: ENSMUSG00000043468

Domain	Start	End	E-Value	Type
low complexity region	48	59	N/A	INTRINSIC
Pfam:Reprolysin_5	72	259	2.6e-6	PFAM
Pfam:Reprolysin	74	265	2.1e-29	PFAM
Pfam:Reprolysin_3	101	220	1.1e-4	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	C	11: 7,079,026	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,770,915	R2*	probably null	Het
Akr1c21	A	G	13: 4,583,851	I306M	probably benign	Het
Alg9	T	A	9: 50,789,621	S230R	possibly damaging	Het
Armt1	T	A	10: 4,453,937	C341S	probably benign	Het
Aspg	T	A	12: 112,112,194	L29M	probably damaging	Het
Aspm	C	T	1: 139,469,472	T934I	probably damaging	Het
C1rl	T	C	6: 124,508,902	S411P	probably damaging	Het
Card14	A	G	11: 119,322,899	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,916,852	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,732,897	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,648,343	W546*	probably null	Het
Cyp8b1	T	C	9: 121,915,993	N91S	probably benign	Het
Dab2	G	T	15: 6,424,649	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,543,689	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,620,613	I164V	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Garem2	T	C	5: 30,114,170	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,145,492	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,457,589	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537	E973V	possibly damaging	Het
Itga3	T	C	11: 95,051,462	K972R	probably benign	Het
Klhl33	A	T	14: 50,893,021	F339I	probably benign	Het
Krt79	T	C	15: 101,937,872	M214V	probably benign	Het
Lgsn	A	T	1: 31,204,193	H452L	probably benign	Het
Limd2	C	T	11: 106,158,690	G124D	probably benign	Het
Luzp1	T	C	4: 136,543,444	S993P	probably damaging	Het
Maml2	C	T	9: 13,621,185		probably benign	Het
Mbtd1	A	T	11: 93,924,612	H342L	probably damaging	Het
Mfhas1	C	A	8: 35,591,356	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,818,714	F3399S	possibly damaging	Het
Napb	T	C	2: 148,700,425	Y205C	probably damaging	Het
Odf2	G	T	2: 29,912,617	A298S	probably benign	Het
Olfr1082	A	T	2: 86,594,144	M228K	probably damaging	Het
Olfr1193	A	T	2: 88,678,508	I218F	probably benign	Het
Olfr740	A	T	14: 50,453,433	Y127F	probably benign	Het
Pcsk5	T	C	19: 17,473,112	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pik3c2b	T	G	1: 133,102,372	I1457S	probably benign	Het
Pole2	T	C	12: 69,213,906	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,618,505	S992R	probably damaging	Het
Ryr2	G	T	13: 11,712,166	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,016,640	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,355,321	T49S	probably damaging	Het
Slc16a10	T	C	10: 40,056,503	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,752,438	T568K	probably benign	Het
Sptbn1	T	C	11: 30,100,633	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,179,290	Y15N	probably damaging	Het
Thyn1	T	C	9: 27,006,442	S160P	probably damaging	Het
Tshz1	A	T	18: 84,015,841	D147E	probably benign	Het
Vmn2r50	T	G	7: 10,037,757	R672S	probably benign	Het
Zfp663	A	T	2: 165,354,002	I99N	possibly damaging	Het

Other mutations in Adam30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Adam30	APN	3	98162170	missense	probably benign	0.01
IGL01630:Adam30	APN	3	98161855	missense	possibly damaging	0.83
IGL01825:Adam30	APN	3	98161901	missense	probably damaging	0.96
IGL02033:Adam30	APN	3	98161471	missense	probably benign	0.13
IGL03157:Adam30	APN	3	98162296	missense	possibly damaging	0.85
IGL03330:Adam30	APN	3	98162456	missense	probably damaging	1.00
R0512:Adam30	UTSW	3	98162125	missense	probably damaging	1.00
R1082:Adam30	UTSW	3	98162290	missense	probably benign	0.30
R1173:Adam30	UTSW	3	98162906	missense	probably benign	0.07
R1463:Adam30	UTSW	3	98162525	missense	probably damaging	1.00
R1771:Adam30	UTSW	3	98161519	missense	possibly damaging	0.94
R1862:Adam30	UTSW	3	98162113	nonsense	probably null
R3442:Adam30	UTSW	3	98162570	missense	probably benign	0.35
R4125:Adam30	UTSW	3	98161363	missense	probably damaging	1.00
R4714:Adam30	UTSW	3	98162854	missense	probably damaging	1.00
R4816:Adam30	UTSW	3	98162745	missense	possibly damaging	0.68
R5447:Adam30	UTSW	3	98161343	missense	probably benign	0.09
R5958:Adam30	UTSW	3	98161964	missense	probably damaging	1.00
R6175:Adam30	UTSW	3	98162950	missense	probably damaging	1.00
R6220:Adam30	UTSW	3	98161309	missense	probably damaging	0.98
R6338:Adam30	UTSW	3	98161541	missense	probably damaging	1.00
R6365:Adam30	UTSW	3	98161034	missense	probably damaging	0.99
R7086:Adam30	UTSW	3	98161319	missense	probably damaging	1.00
R7290:Adam30	UTSW	3	98162941	missense	probably benign	0.00
R7340:Adam30	UTSW	3	98162321	missense	probably benign	0.14
R8181:Adam30	UTSW	3	98162975	missense	probably benign
R8725:Adam30	UTSW	3	98163032	missense	possibly damaging	0.96
R8727:Adam30	UTSW	3	98163032	missense	possibly damaging	0.96
R8913:Adam30	UTSW	3	98161264	missense	possibly damaging	0.68
R8977:Adam30	UTSW	3	98162062	missense	probably damaging	0.98
R9008:Adam30	UTSW	3	98162718	nonsense	probably null
R9126:Adam30	UTSW	3	98160991	missense	probably benign	0.00
R9181:Adam30	UTSW	3	98162878	missense	probably benign	0.05
R9274:Adam30	UTSW	3	98161951	missense	probably benign	0.06
R9338:Adam30	UTSW	3	98162813	missense	probably damaging	1.00
R9636:Adam30	UTSW	3	98160996	missense	probably benign	0.06
R9640:Adam30	UTSW	3	98162304	missense	probably damaging	1.00
R9651:Adam30	UTSW	3	98162620	missense	possibly damaging	0.92
Z1176:Adam30	UTSW	3	98162360	missense	possibly damaging	0.92
Z1177:Adam30	UTSW	3	98160979	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAATCTGTGGCAGGCTAC -3'
(R):5'- CGTTGAAAGTACTTCTATCCTGGG -3'

Sequencing Primer
(F):5'- TGGCAGGCTACAGTGTATCAATG -3'
(R):5'- GAAAGTACTTCTATCCTGGGTCCAG -3'

Posted On

2019-05-13