Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01649:Adam18'

102761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam18

Ensembl Gene

ENSMUSG00000031552

Gene Name

a disintegrin and metallopeptidase domain 18

Synonyms

Dtgn3, Adam27

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01649

Quality Score

Status

Chromosome

Chromosomal Location

25092262-25164771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25104912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 634 (N634S)

Ref Sequence

ENSEMBL: ENSMUSP00000033957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000138232] [ENSMUST00000173833]

AlphaFold

Q9R157

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033957
AA Change: N634S

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: N634S

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: ENSMUST00000138232

Predicted Effect

probably benign
Transcript: ENSMUST00000173833

SMART Domains

Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552

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

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,217,116 (GRCm39)	S220P	probably benign	Het
Arhgef18	T	A	8: 3,491,211 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,911,541 (GRCm39)	S1518G	probably benign	Het
Cltc	A	G	11: 86,617,226 (GRCm39)	V341A	probably benign	Het
Dlg5	A	G	14: 24,188,759 (GRCm39)	V1721A	probably damaging	Het
Dnah10	A	T	5: 124,809,553 (GRCm39)	I274F	probably damaging	Het
Dock1	T	A	7: 134,379,139 (GRCm39)	L622Q	probably damaging	Het
Dysf	A	G	6: 84,176,821 (GRCm39)	D1960G	probably damaging	Het
Fat3	T	C	9: 16,288,015 (GRCm39)	T503A	possibly damaging	Het
Glb1	A	G	9: 114,253,016 (GRCm39)	Y73C	probably damaging	Het
Gm9396	G	T	3: 129,862,268 (GRCm39)		noncoding transcript	Het
Gml2	G	T	15: 74,696,070 (GRCm39)	E155*	probably null	Het
Ikzf4	G	A	10: 128,471,689 (GRCm39)	R323C	probably damaging	Het
Kiz	A	G	2: 146,731,229 (GRCm39)	T240A	probably benign	Het
Lzts3	T	C	2: 130,477,351 (GRCm39)	K480E	probably damaging	Het
Mcm7	T	C	5: 138,167,698 (GRCm39)	H105R	probably damaging	Het
Mpdz	A	G	4: 81,221,870 (GRCm39)	L1464P	probably damaging	Het
Mrgpra9	A	C	7: 46,884,900 (GRCm39)	L256V	probably benign	Het
Mrpl40	T	C	16: 18,691,329 (GRCm39)	Q127R	probably benign	Het
Myom2	G	T	8: 15,163,755 (GRCm39)	R1003L	probably benign	Het
Nav2	A	G	7: 49,225,477 (GRCm39)	T1806A	probably damaging	Het
Or10x4	T	C	1: 174,218,974 (GRCm39)	L113P	probably damaging	Het
Pibf1	A	T	14: 99,425,199 (GRCm39)	Y562F	possibly damaging	Het
Potefam1	A	T	2: 111,044,921 (GRCm39)		probably benign	Het
Ppm1n	A	T	7: 19,012,122 (GRCm39)		probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Septin8	T	A	11: 53,425,855 (GRCm39)	F143I	possibly damaging	Het
Sestd1	A	G	2: 77,029,389 (GRCm39)	Y330H	probably damaging	Het
Sntg1	C	T	1: 8,752,193 (GRCm39)		probably benign	Het
Stpg2	C	A	3: 139,125,623 (GRCm39)	P472Q	probably damaging	Het
Thbs1	A	G	2: 117,945,463 (GRCm39)	K314R	probably benign	Het
Vav3	T	C	3: 109,470,078 (GRCm39)	Y508H	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
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
R1005:Adam18	UTSW	8	25,155,530 (GRCm39)	missense	probably benign	0.05
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

Posted On

2014-01-21