Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01792:Adam3'

155253

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam3

Ensembl Gene

ENSMUSG00000031553

Gene Name

ADAM metallopeptidase domain 3

Synonyms

Taz83, tMDC, Taz83, Cyrn1, ADAM3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01792

Quality Score

Status

Chromosome

Chromosomal Location

25167241-25215868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25187219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 424 (N424S)

Ref Sequence

ENSEMBL: ENSMUSP00000132651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033958] [ENSMUST00000170318] [ENSMUST00000171438]

AlphaFold

F8VQ03

Predicted Effect

probably benign
Transcript: ENSMUST00000033958
AA Change: N424S

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: N424S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	144	3.8e-30	PFAM
Pfam:Reprolysin_5	185	361	6.8e-9	PFAM
Pfam:Reprolysin	187	384	1.6e-64	PFAM
Pfam:Reprolysin_3	211	333	1.2e-8	PFAM
DISIN	404	482	5.58e-32	SMART
ACR	483	614	4.1e-50	SMART
EGF	622	653	1.66e1	SMART
transmembrane domain	689	709	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170318

SMART Domains

Protein: ENSMUSP00000132620
Gene: ENSMUSG00000031553

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	118	1.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171438
AA Change: N424S

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: N424S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	23	144	2.4e-22	PFAM
Pfam:Reprolysin_5	185	361	7.8e-9	PFAM
Pfam:Reprolysin	187	384	4.1e-64	PFAM
Pfam:Reprolysin_3	211	321	1e-8	PFAM
DISIN	404	482	5.58e-32	SMART
ACR	483	614	4.1e-50	SMART
EGF	622	653	1.66e1	SMART
transmembrane domain	689	709	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are male infertile, due to the inability of the sperm to bind to the zona pellucida. If the zona pellucida is removed sperm-egg membrane fusion happens as expected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	G	T	17: 48,452,680 (GRCm39)	F86L	probably damaging	Het
A2ml1	T	C	6: 128,537,642 (GRCm39)	T690A	probably benign	Het
Adarb2	T	C	13: 8,620,185 (GRCm39)	F224L	probably damaging	Het
Clcn3	T	C	8: 61,382,356 (GRCm39)	T438A	probably damaging	Het
Cyp2c55	A	G	19: 39,030,631 (GRCm39)	I488V	probably benign	Het
Dennd1a	A	G	2: 38,016,592 (GRCm39)	F84S	probably damaging	Het
Dennd4b	A	G	3: 90,187,152 (GRCm39)	R1475G	probably damaging	Het
Ift172	G	A	5: 31,434,215 (GRCm39)	R508W	probably damaging	Het
Khdrbs2	C	T	1: 32,696,548 (GRCm39)	R326C	probably damaging	Het
Krt78	T	G	15: 101,855,085 (GRCm39)	M909L	probably benign	Het
Ncapg2	T	A	12: 116,389,438 (GRCm39)	F353I	probably damaging	Het
Or10d4c	A	T	9: 39,558,955 (GRCm39)	N311I	probably benign	Het
Pigb	A	T	9: 72,925,268 (GRCm39)	H396Q	probably damaging	Het
Rev3l	C	T	10: 39,699,336 (GRCm39)	P1278S	probably benign	Het
Setd1b	T	A	5: 123,295,209 (GRCm39)	V955D	unknown	Het
Slc22a16	T	A	10: 40,449,928 (GRCm39)	H121Q	possibly damaging	Het
Slc22a29	A	T	19: 8,195,893 (GRCm39)	C49S	probably damaging	Het
Smad1	T	C	8: 80,098,752 (GRCm39)	K21E	probably damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Spic	A	G	10: 88,515,807 (GRCm39)	I5T	possibly damaging	Het
Srpk1	G	A	17: 28,818,441 (GRCm39)		probably benign	Het
Tubgcp6	T	C	15: 88,985,484 (GRCm39)	D1559G	probably damaging	Het
Unc13b	T	C	4: 43,250,218 (GRCm39)	F992L	probably damaging	Het

Other mutations in Adam3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Adam3	APN	8	25,184,294 (GRCm39)	missense	probably damaging	1.00
IGL01894:Adam3	APN	8	25,177,954 (GRCm39)	missense	probably benign	0.33
IGL01941:Adam3	APN	8	25,171,462 (GRCm39)	utr 3 prime	probably benign
IGL02355:Adam3	APN	8	25,187,207 (GRCm39)	missense	probably damaging	1.00
IGL02362:Adam3	APN	8	25,187,207 (GRCm39)	missense	probably damaging	1.00
IGL02511:Adam3	APN	8	25,185,192 (GRCm39)	missense	probably damaging	0.98
IGL03070:Adam3	APN	8	25,193,800 (GRCm39)	missense	probably damaging	1.00
IGL03106:Adam3	APN	8	25,205,135 (GRCm39)	splice site	probably benign
IGL03238:Adam3	APN	8	25,177,981 (GRCm39)	splice site	probably null
I2288:Adam3	UTSW	8	25,174,677 (GRCm39)	missense	probably damaging	1.00
R0511:Adam3	UTSW	8	25,185,331 (GRCm39)	missense	probably damaging	1.00
R1103:Adam3	UTSW	8	25,204,287 (GRCm39)	splice site	probably benign
R1104:Adam3	UTSW	8	25,171,545 (GRCm39)	missense	probably benign	0.10
R1430:Adam3	UTSW	8	25,204,287 (GRCm39)	splice site	probably benign
R1599:Adam3	UTSW	8	25,215,377 (GRCm39)	missense	possibly damaging	0.50
R1663:Adam3	UTSW	8	25,177,949 (GRCm39)	missense	probably benign	0.03
R2023:Adam3	UTSW	8	25,179,479 (GRCm39)	missense	possibly damaging	0.93
R2278:Adam3	UTSW	8	25,201,400 (GRCm39)	missense	probably damaging	0.99
R3033:Adam3	UTSW	8	25,184,227 (GRCm39)	missense	probably benign	0.00
R3440:Adam3	UTSW	8	25,170,759 (GRCm39)	utr 3 prime	probably benign
R3441:Adam3	UTSW	8	25,170,759 (GRCm39)	utr 3 prime	probably benign
R3688:Adam3	UTSW	8	25,193,864 (GRCm39)	missense	probably benign	0.02
R4478:Adam3	UTSW	8	25,185,171 (GRCm39)	missense	probably benign	0.04
R4654:Adam3	UTSW	8	25,193,819 (GRCm39)	missense	probably damaging	1.00
R4811:Adam3	UTSW	8	25,201,740 (GRCm39)	missense	probably benign	0.10
R4910:Adam3	UTSW	8	25,184,321 (GRCm39)	missense	probably benign	0.03
R4921:Adam3	UTSW	8	25,174,630 (GRCm39)	missense	probably benign	0.01
R4941:Adam3	UTSW	8	25,167,332 (GRCm39)	unclassified	probably benign
R5239:Adam3	UTSW	8	25,184,207 (GRCm39)	missense	possibly damaging	0.62
R5771:Adam3	UTSW	8	25,197,427 (GRCm39)	missense	probably benign	0.00
R5897:Adam3	UTSW	8	25,187,244 (GRCm39)	missense	probably benign	0.00
R5916:Adam3	UTSW	8	25,174,555 (GRCm39)	critical splice donor site	probably null
R5979:Adam3	UTSW	8	25,167,383 (GRCm39)	missense	probably benign	0.03
R6168:Adam3	UTSW	8	25,171,630 (GRCm39)	splice site	probably null
R6189:Adam3	UTSW	8	25,201,352 (GRCm39)	missense	probably benign	0.01
R6801:Adam3	UTSW	8	25,174,680 (GRCm39)	missense	possibly damaging	0.61
R6997:Adam3	UTSW	8	25,171,539 (GRCm39)	missense	probably benign	0.10
R7065:Adam3	UTSW	8	25,201,691 (GRCm39)	critical splice donor site	probably null
R7074:Adam3	UTSW	8	25,184,363 (GRCm39)	missense	probably benign	0.01
R7151:Adam3	UTSW	8	25,185,271 (GRCm39)	missense	probably damaging	1.00
R7208:Adam3	UTSW	8	25,201,417 (GRCm39)	missense	probably damaging	0.98
R7341:Adam3	UTSW	8	25,177,996 (GRCm39)	missense	possibly damaging	0.60
R7528:Adam3	UTSW	8	25,167,279 (GRCm39)	missense	unknown
R7797:Adam3	UTSW	8	25,184,660 (GRCm39)	missense	probably damaging	1.00
R7891:Adam3	UTSW	8	25,197,513 (GRCm39)	critical splice acceptor site	probably null
R8064:Adam3	UTSW	8	25,171,566 (GRCm39)	missense	probably benign	0.10
R8157:Adam3	UTSW	8	25,197,453 (GRCm39)	missense	probably benign	0.27
R8229:Adam3	UTSW	8	25,201,754 (GRCm39)	missense	probably damaging	0.98
R9007:Adam3	UTSW	8	25,205,127 (GRCm39)	missense	probably benign	0.02
R9018:Adam3	UTSW	8	25,184,292 (GRCm39)	nonsense	probably null
R9098:Adam3	UTSW	8	25,179,484 (GRCm39)	missense	probably damaging	1.00
R9110:Adam3	UTSW	8	25,193,821 (GRCm39)	missense	probably benign	0.00
R9125:Adam3	UTSW	8	25,213,517 (GRCm39)	missense	probably damaging	1.00
R9211:Adam3	UTSW	8	25,177,910 (GRCm39)	missense	probably benign	0.08
R9267:Adam3	UTSW	8	25,171,605 (GRCm39)	missense	probably benign
R9331:Adam3	UTSW	8	25,177,951 (GRCm39)	missense	probably benign	0.01
R9432:Adam3	UTSW	8	25,193,928 (GRCm39)	missense	probably damaging	1.00
R9716:Adam3	UTSW	8	25,204,274 (GRCm39)	missense	possibly damaging	0.65
X0063:Adam3	UTSW	8	25,201,722 (GRCm39)	missense	probably damaging	0.96
Z1088:Adam3	UTSW	8	25,171,447 (GRCm39)	utr 3 prime	probably benign

Posted On

2014-02-04