Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Adam18'

82953

Institutional Source

Beutler Lab

Gene Symbol

Adam18

Ensembl Gene

ENSMUSG00000031552

Gene Name

a disintegrin and metallopeptidase domain 18

Synonyms

Adam27, Dtgn3

MMRRC Submission

039102-MU

Accession Numbers

Genbank: NM_010084

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24602246-24674755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24647853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 324 (T324A)

Ref Sequence

ENSEMBL: ENSMUSP00000133378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000173833]

AlphaFold

Q9R157

Predicted Effect

probably benign
Transcript: ENSMUST00000033957
AA Change: T324A

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

SMART Domains

Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: T324A

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	15	140	1.7e-25	PFAM
Pfam:Reprolysin	180	377	1.1e-57	PFAM
DISIN	396	474	1.03e-35	SMART
ACR	475	613	1.12e-51	SMART
transmembrane domain	684	703	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173833
AA Change: T324A

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

SMART Domains

Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: T324A

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	15	140	9.5e-35	PFAM
Pfam:Reprolysin	180	378	7.7e-56	PFAM
DISIN	396	474	1.03e-35	SMART
ACR	475	613	1.12e-51	SMART

Meta Mutation Damage Score

0.1722

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during early stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with that of controls. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Asic5	C	T	3: 82,008,448		probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992	*366W	probably null	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Cep250	A	G	2: 155,964,289		probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Daam1	A	C	12: 71,915,784	K90T	unknown	Het
Diexf	A	T	1: 193,114,703	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Dnah9	A	T	11: 66,005,837		probably null	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm12500	T	C	3: 108,086,476		probably null	Het
Gm6327	T	C	16: 12,761,113		noncoding transcript	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	T	C	5: 31,257,918		probably benign	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lgals8	A	T	13: 12,451,395		probably benign	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,083,800		probably benign	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Naa25	T	C	5: 121,438,716		probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734		probably benign	Het
Rilpl1	A	G	5: 124,501,871	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Skint1	T	G	4: 112,028,215		probably benign	Het
Slc33a1	A	G	3: 63,943,304	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spag7	A	G	11: 70,669,182		probably benign	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,642,935	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Usp24	A	G	4: 106,413,678		probably null	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	probably damaging	Het

Other mutations in Adam18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Adam18	APN	8	24628133	missense	probably damaging	1.00
IGL01649:Adam18	APN	8	24614896	missense	possibly damaging	0.82
IGL02212:Adam18	APN	8	24637179	missense	probably benign	0.02
IGL02455:Adam18	APN	8	24651848	missense	probably damaging	0.96
IGL02525:Adam18	APN	8	24611044	missense	probably benign	0.00
IGL02525:Adam18	APN	8	24641767	splice site	probably benign
IGL02966:Adam18	APN	8	24611149	splice site	probably benign
IGL03136:Adam18	APN	8	24641836	missense	probably damaging	1.00
G5030:Adam18	UTSW	8	24651856	missense	probably benign	0.24
R0135:Adam18	UTSW	8	24665542	missense	possibly damaging	0.71
R0280:Adam18	UTSW	8	24674054	missense	probably benign	0.06
R0389:Adam18	UTSW	8	24629637	splice site	probably null
R0390:Adam18	UTSW	8	24674054	missense	probably benign	0.06
R0443:Adam18	UTSW	8	24629637	splice site	probably null
R0479:Adam18	UTSW	8	24651822	missense	probably benign
R0578:Adam18	UTSW	8	24641847	missense	possibly damaging	0.82
R0645:Adam18	UTSW	8	24672120	nonsense	probably null
R0881:Adam18	UTSW	8	24672143	splice site	probably benign
R0885:Adam18	UTSW	8	24651786	missense	probably damaging	1.00
R0973:Adam18	UTSW	8	24647853	missense	probably benign	0.01
R0974:Adam18	UTSW	8	24647853	missense	probably benign	0.01
R1005:Adam18	UTSW	8	24665514	missense	probably benign	0.05
R1356:Adam18	UTSW	8	24668595	splice site	probably benign
R1510:Adam18	UTSW	8	24625831	missense	probably benign	0.01
R1552:Adam18	UTSW	8	24646361	missense	probably benign
R1568:Adam18	UTSW	8	24647783	splice site	probably null
R1639:Adam18	UTSW	8	24652152	missense	probably benign	0.00
R1968:Adam18	UTSW	8	24646447	missense	probably benign	0.32
R2029:Adam18	UTSW	8	24650877	missense	probably damaging	1.00
R2058:Adam18	UTSW	8	24672066	splice site	probably benign
R2211:Adam18	UTSW	8	24628155	missense	probably damaging	0.96
R2237:Adam18	UTSW	8	24646287	missense	probably benign	0.01
R2238:Adam18	UTSW	8	24646287	missense	probably benign	0.01
R2239:Adam18	UTSW	8	24646287	missense	probably benign	0.01
R2518:Adam18	UTSW	8	24637141	missense	probably damaging	1.00
R3122:Adam18	UTSW	8	24628232	missense	possibly damaging	0.74
R3426:Adam18	UTSW	8	24667604	missense	probably damaging	1.00
R3428:Adam18	UTSW	8	24667604	missense	probably damaging	1.00
R3967:Adam18	UTSW	8	24629710	missense	probably benign	0.12
R4833:Adam18	UTSW	8	24674101	missense	probably benign	0.01
R4965:Adam18	UTSW	8	24641811	missense	probably damaging	1.00
R5249:Adam18	UTSW	8	24625852	missense	probably benign	0.00
R5534:Adam18	UTSW	8	24665514	missense	probably benign	0.05
R5920:Adam18	UTSW	8	24674075	missense	probably damaging	1.00
R6329:Adam18	UTSW	8	24614827	missense	probably damaging	1.00
R6450:Adam18	UTSW	8	24629675	missense	probably benign	0.05
R6479:Adam18	UTSW	8	24629665	missense	probably benign	0.29
R6516:Adam18	UTSW	8	24674687	missense	probably damaging	1.00
R6603:Adam18	UTSW	8	24665502	missense	possibly damaging	0.63
R7194:Adam18	UTSW	8	24651852	missense	possibly damaging	0.67
R7226:Adam18	UTSW	8	24647808	missense	probably damaging	1.00
R7266:Adam18	UTSW	8	24667623	missense	probably benign	0.00
R7397:Adam18	UTSW	8	24646305	missense	possibly damaging	0.48
R7575:Adam18	UTSW	8	24625857	missense	possibly damaging	0.50
R7786:Adam18	UTSW	8	24611118	missense	probably benign	0.00
R7872:Adam18	UTSW	8	24611100	missense	probably benign	0.00
R8069:Adam18	UTSW	8	24628230	missense	possibly damaging	0.96
R8411:Adam18	UTSW	8	24652127	missense	probably damaging	1.00
R8713:Adam18	UTSW	8	24652173	missense	probably benign	0.22
R8785:Adam18	UTSW	8	24650895	missense	probably damaging	0.97
R8803:Adam18	UTSW	8	24647862	missense	probably benign	0.02
R8882:Adam18	UTSW	8	24646422	missense	probably benign	0.25
R8944:Adam18	UTSW	8	24674687	missense	probably damaging	1.00
R9000:Adam18	UTSW	8	24637146	missense	probably benign	0.27
R9184:Adam18	UTSW	8	24647831	missense	probably benign	0.22
R9258:Adam18	UTSW	8	24668558	missense	probably benign	0.05
R9306:Adam18	UTSW	8	24646404	missense	possibly damaging	0.74
R9377:Adam18	UTSW	8	24614843	nonsense	probably null
R9472:Adam18	UTSW	8	24637232	missense	probably benign	0.04
R9476:Adam18	UTSW	8	24625791	missense	probably benign	0.18
R9508:Adam18	UTSW	8	24653762	missense	possibly damaging	0.88
R9567:Adam18	UTSW	8	24628194	missense	probably benign	0.25
R9603:Adam18	UTSW	8	24628131	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- AGGCAACAAAGTAGCAACAGTATCATGT -3'
(R):5'- CCTACCTGTTCTGGCTTTAACCTTCAAA -3'

Sequencing Primer
(F):5'- ctgagttttatacccagcattcc -3'
(R):5'- TTAGCATAAACATGCCTAGCAAAG -3'

Posted On

2013-11-08