Mutagenetix > Incidental Mutation

Incidental Mutation 'R1005:Adam18'

95635

Institutional Source

Beutler Lab

Gene Symbol

Adam18

Ensembl Gene

ENSMUSG00000031552

Gene Name

a disintegrin and metallopeptidase domain 18

Synonyms

Dtgn3, Adam27

MMRRC Submission

039115-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1005 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25092262-25164771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25155530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 163 (D163G)

Ref Sequence

ENSEMBL: ENSMUSP00000033957 (fasta)

Gene Model

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

AlphaFold

Q9R157

Predicted Effect

probably benign
Transcript: ENSMUST00000033957
AA Change: D163G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: D163G

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: D163G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: D163G

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.5%

Validation Efficiency

100% (41/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	G	A	12: 88,368,872 (GRCm39)	V117M	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa6	A	T	11: 54,892,044 (GRCm39)	M304K	possibly damaging	Het
Aox1	A	G	1: 58,104,511 (GRCm39)	T563A	probably benign	Het
AW551984	G	A	9: 39,505,029 (GRCm39)	Q488*	probably null	Het
Cbx2	A	G	11: 118,919,400 (GRCm39)	R322G	probably benign	Het
Csmd1	T	A	8: 16,338,707 (GRCm39)	T467S	probably damaging	Het
Cspg4	A	G	9: 56,796,020 (GRCm39)	I1252V	probably benign	Het
Enah	A	T	1: 181,789,495 (GRCm39)		probably benign	Het
Fam171a2	T	C	11: 102,331,007 (GRCm39)	M185V	probably benign	Het
Flt1	G	T	5: 147,618,695 (GRCm39)	N213K	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,346 (GRCm39)	N265S	probably benign	Het
Gbp2	T	C	3: 142,336,262 (GRCm39)		probably benign	Het
Gm6871	A	T	7: 41,195,682 (GRCm39)	C352S	probably damaging	Het
Gm9742	T	C	13: 8,085,251 (GRCm39)		noncoding transcript	Het
Iars1	T	C	13: 49,840,921 (GRCm39)	I18T	possibly damaging	Het
Kel	T	C	6: 41,665,551 (GRCm39)	Y523C	probably damaging	Het
Klk1b8	T	A	7: 43,603,758 (GRCm39)	C198*	probably null	Het
Mc3r	A	G	2: 172,091,483 (GRCm39)	H235R	probably benign	Het
Nr0b2	G	T	4: 133,280,785 (GRCm39)	R17L	probably benign	Het
Or1a1b	A	G	11: 74,097,962 (GRCm39)	F27L	probably benign	Het
Prl7a1	G	A	13: 27,826,429 (GRCm39)	P2L	possibly damaging	Het
Prrt3	G	A	6: 113,471,739 (GRCm39)	A811V	probably damaging	Het
Rab28	A	G	5: 41,855,726 (GRCm39)		probably benign	Het
Rhobtb2	A	G	14: 70,035,726 (GRCm39)	L115P	probably damaging	Het
Robo4	A	G	9: 37,319,547 (GRCm39)	E599G	probably damaging	Het
Ros1	T	A	10: 52,004,501 (GRCm39)		probably benign	Het
Slc22a27	A	T	19: 7,904,116 (GRCm39)	L7Q	probably damaging	Het
Slfn5	T	A	11: 82,850,984 (GRCm39)	L427H	probably damaging	Het
Smarcad1	C	T	6: 65,085,711 (GRCm39)	H890Y	probably benign	Het
Snx31	A	G	15: 36,517,837 (GRCm39)		probably benign	Het
Sptb	C	T	12: 76,648,633 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Ston2	T	C	12: 91,615,622 (GRCm39)	D262G	possibly damaging	Het
Trank1	T	G	9: 111,162,789 (GRCm39)	M16R	probably benign	Het
Trrap	A	G	5: 144,742,537 (GRCm39)	E1385G	probably damaging	Het
Ttc8	T	C	12: 98,903,403 (GRCm39)	S47P	probably benign	Het

Other mutations in Adam18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Adam18	APN	8	25,118,149 (GRCm39)	missense	probably damaging	1.00
IGL01649:Adam18	APN	8	25,104,912 (GRCm39)	missense	possibly damaging	0.82
IGL02212:Adam18	APN	8	25,127,195 (GRCm39)	missense	probably benign	0.02
IGL02455:Adam18	APN	8	25,141,864 (GRCm39)	missense	probably damaging	0.96
IGL02525:Adam18	APN	8	25,131,783 (GRCm39)	splice site	probably benign
IGL02525:Adam18	APN	8	25,101,060 (GRCm39)	missense	probably benign	0.00
IGL02966:Adam18	APN	8	25,101,165 (GRCm39)	splice site	probably benign
IGL03136:Adam18	APN	8	25,131,852 (GRCm39)	missense	probably damaging	1.00
G5030:Adam18	UTSW	8	25,141,872 (GRCm39)	missense	probably benign	0.24
R0135:Adam18	UTSW	8	25,155,558 (GRCm39)	missense	possibly damaging	0.71
R0280:Adam18	UTSW	8	25,164,070 (GRCm39)	missense	probably benign	0.06
R0389:Adam18	UTSW	8	25,119,653 (GRCm39)	splice site	probably null
R0390:Adam18	UTSW	8	25,164,070 (GRCm39)	missense	probably benign	0.06
R0443:Adam18	UTSW	8	25,119,653 (GRCm39)	splice site	probably null
R0479:Adam18	UTSW	8	25,141,838 (GRCm39)	missense	probably benign
R0578:Adam18	UTSW	8	25,131,863 (GRCm39)	missense	possibly damaging	0.82
R0645:Adam18	UTSW	8	25,162,136 (GRCm39)	nonsense	probably null
R0881:Adam18	UTSW	8	25,162,159 (GRCm39)	splice site	probably benign
R0885:Adam18	UTSW	8	25,141,802 (GRCm39)	missense	probably damaging	1.00
R0973:Adam18	UTSW	8	25,137,869 (GRCm39)	missense	probably benign	0.01
R0973:Adam18	UTSW	8	25,137,869 (GRCm39)	missense	probably benign	0.01
R0974:Adam18	UTSW	8	25,137,869 (GRCm39)	missense	probably benign	0.01
R1356:Adam18	UTSW	8	25,158,611 (GRCm39)	splice site	probably benign
R1510:Adam18	UTSW	8	25,115,847 (GRCm39)	missense	probably benign	0.01
R1552:Adam18	UTSW	8	25,136,377 (GRCm39)	missense	probably benign
R1568:Adam18	UTSW	8	25,137,799 (GRCm39)	splice site	probably null
R1639:Adam18	UTSW	8	25,142,168 (GRCm39)	missense	probably benign	0.00
R1968:Adam18	UTSW	8	25,136,463 (GRCm39)	missense	probably benign	0.32
R2029:Adam18	UTSW	8	25,140,893 (GRCm39)	missense	probably damaging	1.00
R2058:Adam18	UTSW	8	25,162,082 (GRCm39)	splice site	probably benign
R2211:Adam18	UTSW	8	25,118,171 (GRCm39)	missense	probably damaging	0.96
R2237:Adam18	UTSW	8	25,136,303 (GRCm39)	missense	probably benign	0.01
R2238:Adam18	UTSW	8	25,136,303 (GRCm39)	missense	probably benign	0.01
R2239:Adam18	UTSW	8	25,136,303 (GRCm39)	missense	probably benign	0.01
R2518:Adam18	UTSW	8	25,127,157 (GRCm39)	missense	probably damaging	1.00
R3122:Adam18	UTSW	8	25,118,248 (GRCm39)	missense	possibly damaging	0.74
R3426:Adam18	UTSW	8	25,157,620 (GRCm39)	missense	probably damaging	1.00
R3428:Adam18	UTSW	8	25,157,620 (GRCm39)	missense	probably damaging	1.00
R3967:Adam18	UTSW	8	25,119,726 (GRCm39)	missense	probably benign	0.12
R4833:Adam18	UTSW	8	25,164,117 (GRCm39)	missense	probably benign	0.01
R4965:Adam18	UTSW	8	25,131,827 (GRCm39)	missense	probably damaging	1.00
R5249:Adam18	UTSW	8	25,115,868 (GRCm39)	missense	probably benign	0.00
R5534:Adam18	UTSW	8	25,155,530 (GRCm39)	missense	probably benign	0.05
R5920:Adam18	UTSW	8	25,164,091 (GRCm39)	missense	probably damaging	1.00
R6329:Adam18	UTSW	8	25,104,843 (GRCm39)	missense	probably damaging	1.00
R6450:Adam18	UTSW	8	25,119,691 (GRCm39)	missense	probably benign	0.05
R6479:Adam18	UTSW	8	25,119,681 (GRCm39)	missense	probably benign	0.29
R6516:Adam18	UTSW	8	25,164,703 (GRCm39)	missense	probably damaging	1.00
R6603:Adam18	UTSW	8	25,155,518 (GRCm39)	missense	possibly damaging	0.63
R7194:Adam18	UTSW	8	25,141,868 (GRCm39)	missense	possibly damaging	0.67
R7226:Adam18	UTSW	8	25,137,824 (GRCm39)	missense	probably damaging	1.00
R7266:Adam18	UTSW	8	25,157,639 (GRCm39)	missense	probably benign	0.00
R7397:Adam18	UTSW	8	25,136,321 (GRCm39)	missense	possibly damaging	0.48
R7575:Adam18	UTSW	8	25,115,873 (GRCm39)	missense	possibly damaging	0.50
R7786:Adam18	UTSW	8	25,101,134 (GRCm39)	missense	probably benign	0.00
R7872:Adam18	UTSW	8	25,101,116 (GRCm39)	missense	probably benign	0.00
R8069:Adam18	UTSW	8	25,118,246 (GRCm39)	missense	possibly damaging	0.96
R8411:Adam18	UTSW	8	25,142,143 (GRCm39)	missense	probably damaging	1.00
R8713:Adam18	UTSW	8	25,142,189 (GRCm39)	missense	probably benign	0.22
R8785:Adam18	UTSW	8	25,140,911 (GRCm39)	missense	probably damaging	0.97
R8803:Adam18	UTSW	8	25,137,878 (GRCm39)	missense	probably benign	0.02
R8882:Adam18	UTSW	8	25,136,438 (GRCm39)	missense	probably benign	0.25
R8944:Adam18	UTSW	8	25,164,703 (GRCm39)	missense	probably damaging	1.00
R9000:Adam18	UTSW	8	25,127,162 (GRCm39)	missense	probably benign	0.27
R9184:Adam18	UTSW	8	25,137,847 (GRCm39)	missense	probably benign	0.22
R9258:Adam18	UTSW	8	25,158,574 (GRCm39)	missense	probably benign	0.05
R9306:Adam18	UTSW	8	25,136,420 (GRCm39)	missense	possibly damaging	0.74
R9377:Adam18	UTSW	8	25,104,859 (GRCm39)	nonsense	probably null
R9472:Adam18	UTSW	8	25,127,248 (GRCm39)	missense	probably benign	0.04
R9476:Adam18	UTSW	8	25,115,807 (GRCm39)	missense	probably benign	0.18
R9508:Adam18	UTSW	8	25,143,778 (GRCm39)	missense	possibly damaging	0.88
R9567:Adam18	UTSW	8	25,118,210 (GRCm39)	missense	probably benign	0.25
R9603:Adam18	UTSW	8	25,118,147 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- aggaggacacctatccCAGTGAATC -3'
(R):5'- TGCATACGATCATTTGCTTTGCCG -3'

Sequencing Primer
(F):5'- cctatccCAGTGAATCCTTTTAAATC -3'
(R):5'- CCTGTATCACATTTCAGGTGATAGC -3'

Posted On

2014-01-05