Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Adam30'

204001

Institutional Source

Beutler Lab

Gene Symbol

Adam30

Ensembl Gene

ENSMUSG00000043468

Gene Name

a disintegrin and metallopeptidase domain 30

Synonyms

4933424D07Rik

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

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

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98160630-98164169 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98162113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 421 (K421*)

Ref Sequence

ENSEMBL: ENSMUSP00000060505 (fasta)

Gene Model

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

AlphaFold

Q811Q3

Predicted Effect

probably null
Transcript: ENSMUST00000050342
AA Change: K421*

SMART Domains

Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: K421*

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: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Atp6v1b1	A	G	6: 83,749,852 (GRCm38)		probably null	Het
Cacna1a	A	T	8: 84,415,930 (GRCm38)	I96F	possibly damaging	Het
Card10	G	A	15: 78,780,514 (GRCm38)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,190,394 (GRCm38)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,757,941 (GRCm38)	Y685H	probably damaging	Het
Cibar1	C	T	4: 12,155,717 (GRCm38)	V306I	possibly damaging	Het
Cmklr1	T	C	5: 113,614,407 (GRCm38)	T178A	probably damaging	Het
Col16a1	G	A	4: 130,092,782 (GRCm38)		probably null	Het
Col4a1	C	T	8: 11,226,439 (GRCm38)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm38)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,424,566 (GRCm38)	H148R	probably damaging	Het
Crygd	T	C	1: 65,061,974 (GRCm38)	Y154C	probably benign	Het
Cubn	T	C	2: 13,308,561 (GRCm38)	Y3066C	probably damaging	Het
Defb15	C	T	8: 21,929,986 (GRCm38)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,697,398 (GRCm38)	D147G	probably benign	Het
Dnah12	A	T	14: 26,709,257 (GRCm38)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,783,539 (GRCm38)	R193L	probably damaging	Het
Dusp29	A	G	14: 21,686,689 (GRCm38)	V115A	probably benign	Het
Esd	A	C	14: 74,742,074 (GRCm38)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,419,439 (GRCm38)		probably benign	Het
Etfbkmt	T	A	6: 149,144,151 (GRCm38)	M1K	probably null	Het
Exph5	A	G	9: 53,376,248 (GRCm38)	H1543R	probably benign	Het
Fbxo16	A	G	14: 65,270,803 (GRCm38)	T23A	probably damaging	Het
Gorasp2	C	A	2: 70,679,464 (GRCm38)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,597,933 (GRCm38)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,638,900 (GRCm38)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,584,124 (GRCm38)	D592G	probably benign	Het
Inmt	G	A	6: 55,174,883 (GRCm38)	A34V	probably damaging	Het
Ints9	A	C	14: 65,026,413 (GRCm38)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,787,754 (GRCm38)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,425,330 (GRCm38)	V259D	probably damaging	Het
Lipo3	A	G	19: 33,784,692 (GRCm38)	F135S	probably damaging	Het
Lrba	T	C	3: 86,773,203 (GRCm38)		probably null	Het
Mapk1	T	A	16: 17,026,429 (GRCm38)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,444,921 (GRCm38)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,459,969 (GRCm38)	P554L	probably damaging	Het
Mki67	T	C	7: 135,699,361 (GRCm38)	T1315A	probably benign	Het
Mprip	C	T	11: 59,758,221 (GRCm38)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,185,988 (GRCm38)	I688F	probably benign	Het
Myo1d	A	T	11: 80,663,048 (GRCm38)	Y536N	probably damaging	Het
Neb	C	T	2: 52,162,187 (GRCm38)		probably null	Het
Noc2l	A	G	4: 156,237,708 (GRCm38)	R161G	probably benign	Het
Nup54	T	A	5: 92,419,567 (GRCm38)	I375L	possibly damaging	Het
Nup93	T	C	8: 94,306,102 (GRCm38)	F539L	probably damaging	Het
Or10x1	T	A	1: 174,369,452 (GRCm38)	H178Q	probably damaging	Het
Or2n1e	A	G	17: 38,275,344 (GRCm38)	E191G	probably damaging	Het
Or5p57	A	C	7: 108,066,725 (GRCm38)	Y24*	probably null	Het
Or8b12	T	A	9: 37,746,968 (GRCm38)	M278K	probably benign	Het
Panx1	A	T	9: 15,007,428 (GRCm38)	D378E	probably damaging	Het
Papss1	T	A	3: 131,583,184 (GRCm38)	V170D	possibly damaging	Het
Pcnx1	T	C	12: 81,918,732 (GRCm38)	S558P	probably damaging	Het
Pde3a	T	A	6: 141,250,353 (GRCm38)	I255N	probably damaging	Het
Pde3a	G	T	6: 141,487,513 (GRCm38)	A757S	probably damaging	Het
Pdzph1	A	G	17: 58,922,583 (GRCm38)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,551,020 (GRCm38)	R805S	probably benign	Het
Polr1a	G	A	6: 71,909,203 (GRCm38)	G14D	probably damaging	Het
Prg4	T	A	1: 150,460,669 (GRCm38)	D60V	probably damaging	Het
Ptgr3	T	C	18: 84,095,318 (GRCm38)	V373A	possibly damaging	Het
Ptprc	T	C	1: 138,112,227 (GRCm38)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,842,209 (GRCm38)	R205K	probably benign	Het
Rcan2	A	T	17: 44,037,089 (GRCm38)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm38)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 121,054,942 (GRCm38)	I191T	possibly damaging	Het
Septin4	A	G	11: 87,567,235 (GRCm38)	H145R	possibly damaging	Het
Setd1b	T	C	5: 123,147,613 (GRCm38)	S241P	unknown	Het
Slco1a8	T	C	6: 142,003,423 (GRCm38)	M76V	possibly damaging	Het
Srpk2	T	C	5: 23,524,150 (GRCm38)	K497R	probably benign	Het
Sspo	T	C	6: 48,491,006 (GRCm38)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,316,883 (GRCm38)	V168A	probably benign	Het
Tank	T	C	2: 61,649,912 (GRCm38)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,695,207 (GRCm38)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,411,198 (GRCm38)	V457A	probably damaging	Het
Trim43b	T	A	9: 89,085,571 (GRCm38)	K336N	probably damaging	Het
Trim47	T	C	11: 116,106,137 (GRCm38)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,023 (GRCm38)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm38)	S231P	probably benign	Het
Vit	A	G	17: 78,622,746 (GRCm38)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521 (GRCm38)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 10,173,406 (GRCm38)	C131Y	possibly damaging	Het
Zfp58	A	T	13: 67,491,188 (GRCm38)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,845,010 (GRCm38)	G491C	probably damaging	Het

Other mutations in Adam30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Adam30	APN	3	98,162,170 (GRCm38)	missense	probably benign	0.01
IGL01630:Adam30	APN	3	98,161,855 (GRCm38)	missense	possibly damaging	0.83
IGL01825:Adam30	APN	3	98,161,901 (GRCm38)	missense	probably damaging	0.96
IGL02033:Adam30	APN	3	98,161,471 (GRCm38)	missense	probably benign	0.13
IGL03157:Adam30	APN	3	98,162,296 (GRCm38)	missense	possibly damaging	0.85
IGL03330:Adam30	APN	3	98,162,456 (GRCm38)	missense	probably damaging	1.00
R0512:Adam30	UTSW	3	98,162,125 (GRCm38)	missense	probably damaging	1.00
R1082:Adam30	UTSW	3	98,162,290 (GRCm38)	missense	probably benign	0.30
R1173:Adam30	UTSW	3	98,162,906 (GRCm38)	missense	probably benign	0.07
R1463:Adam30	UTSW	3	98,162,525 (GRCm38)	missense	probably damaging	1.00
R1771:Adam30	UTSW	3	98,161,519 (GRCm38)	missense	possibly damaging	0.94
R3442:Adam30	UTSW	3	98,162,570 (GRCm38)	missense	probably benign	0.35
R4125:Adam30	UTSW	3	98,161,363 (GRCm38)	missense	probably damaging	1.00
R4714:Adam30	UTSW	3	98,162,854 (GRCm38)	missense	probably damaging	1.00
R4816:Adam30	UTSW	3	98,162,745 (GRCm38)	missense	possibly damaging	0.68
R5447:Adam30	UTSW	3	98,161,343 (GRCm38)	missense	probably benign	0.09
R5958:Adam30	UTSW	3	98,161,964 (GRCm38)	missense	probably damaging	1.00
R6175:Adam30	UTSW	3	98,162,950 (GRCm38)	missense	probably damaging	1.00
R6220:Adam30	UTSW	3	98,161,309 (GRCm38)	missense	probably damaging	0.98
R6338:Adam30	UTSW	3	98,161,541 (GRCm38)	missense	probably damaging	1.00
R6365:Adam30	UTSW	3	98,161,034 (GRCm38)	missense	probably damaging	0.99
R6998:Adam30	UTSW	3	98,162,710 (GRCm38)	missense	probably benign	0.03
R7086:Adam30	UTSW	3	98,161,319 (GRCm38)	missense	probably damaging	1.00
R7290:Adam30	UTSW	3	98,162,941 (GRCm38)	missense	probably benign	0.00
R7340:Adam30	UTSW	3	98,162,321 (GRCm38)	missense	probably benign	0.14
R8181:Adam30	UTSW	3	98,162,975 (GRCm38)	missense	probably benign
R8725:Adam30	UTSW	3	98,163,032 (GRCm38)	missense	possibly damaging	0.96
R8727:Adam30	UTSW	3	98,163,032 (GRCm38)	missense	possibly damaging	0.96
R8913:Adam30	UTSW	3	98,161,264 (GRCm38)	missense	possibly damaging	0.68
R8977:Adam30	UTSW	3	98,162,062 (GRCm38)	missense	probably damaging	0.98
R9008:Adam30	UTSW	3	98,162,718 (GRCm38)	nonsense	probably null
R9126:Adam30	UTSW	3	98,160,991 (GRCm38)	missense	probably benign	0.00
R9181:Adam30	UTSW	3	98,162,878 (GRCm38)	missense	probably benign	0.05
R9274:Adam30	UTSW	3	98,161,951 (GRCm38)	missense	probably benign	0.06
R9338:Adam30	UTSW	3	98,162,813 (GRCm38)	missense	probably damaging	1.00
R9636:Adam30	UTSW	3	98,160,996 (GRCm38)	missense	probably benign	0.06
R9640:Adam30	UTSW	3	98,162,304 (GRCm38)	missense	probably damaging	1.00
R9651:Adam30	UTSW	3	98,162,620 (GRCm38)	missense	possibly damaging	0.92
Z1176:Adam30	UTSW	3	98,162,360 (GRCm38)	missense	possibly damaging	0.92
Z1177:Adam30	UTSW	3	98,160,979 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGCTGCATCATGGGGAC -3'
(R):5'- AAAGCCTCCGTTTCTGCATGG -3'

Sequencing Primer
(F):5'- CAGGACGTACAGGGTTTAGTAACTG -3'
(R):5'- AGTTCCATCCTGCTTGTAAGAG -3'

Posted On

2014-06-23