Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01894:Adam3'

179339

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 #

IGL01894

Quality Score

Status

Chromosome

Chromosomal Location

25167241-25215868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25177954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 653 (D653G)

Ref Sequence

ENSEMBL: ENSMUSP00000132651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033958] [ENSMUST00000167431] [ENSMUST00000170318] [ENSMUST00000171438]

AlphaFold

F8VQ03

Predicted Effect

probably benign
Transcript: ENSMUST00000033958
AA Change: D653G

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: D653G

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: ENSMUST00000167431
AA Change: D9G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127479
Gene: ENSMUSG00000031553
AA Change: D9G

Domain	Start	End	E-Value	Type
low complexity region	56	67	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: D653G

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: D653G

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,324,865 (GRCm39)	I530L	probably benign	Het
Car13	T	C	3: 14,726,525 (GRCm39)	F227S	probably damaging	Het
Cdc27	T	C	11: 104,417,747 (GRCm39)	N300S	probably benign	Het
Fat3	C	T	9: 16,287,145 (GRCm39)	V793I	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gpa33	T	A	1: 165,992,785 (GRCm39)	D299E	probably benign	Het
Kif5a	C	T	10: 127,098,648 (GRCm39)	V40I	probably benign	Het
Lama3	A	G	18: 12,705,121 (GRCm39)	H1455R	probably benign	Het
Lamc1	T	C	1: 153,122,828 (GRCm39)	K751E	possibly damaging	Het
Nek5	T	A	8: 22,603,835 (GRCm39)	H114L	probably damaging	Het
Nipal1	G	A	5: 72,820,882 (GRCm39)	A37T	probably benign	Het
Or13a24	T	C	7: 140,154,683 (GRCm39)	Y206H	possibly damaging	Het
Or5b101	G	T	19: 13,005,649 (GRCm39)	L15I	probably damaging	Het
Or5b96	T	C	19: 12,867,007 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,504,175 (GRCm39)	Y622H	possibly damaging	Het
Pknox2	G	T	9: 36,835,038 (GRCm39)	H144N	probably damaging	Het
Ppp4r4	A	G	12: 103,559,397 (GRCm39)	Y526C	probably damaging	Het
Prdm10	A	G	9: 31,227,557 (GRCm39)	D54G	probably damaging	Het
Rpn2	C	T	2: 157,136,093 (GRCm39)	T167I	probably benign	Het
Slc22a30	G	T	19: 8,364,021 (GRCm39)	H218Q	probably benign	Het
Supt6	A	G	11: 78,113,664 (GRCm39)	S878P	probably benign	Het
Tmem184c	A	T	8: 78,323,775 (GRCm39)	C362*	probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wscd2	C	T	5: 113,710,357 (GRCm39)	R294W	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
IGL01792:Adam3	APN	8	25,187,219 (GRCm39)	missense	probably benign	0.27
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

2014-05-07