Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03070:Adam3'

417487

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 #

IGL03070

Quality Score

Status

Chromosome

Chromosomal Location

25167241-25215868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25193800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 404 (E404G)

Ref Sequence

ENSEMBL: ENSMUSP00000132651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033958] [ENSMUST00000170318] [ENSMUST00000171438] [ENSMUST00000171611]

AlphaFold

F8VQ03

Predicted Effect

probably damaging
Transcript: ENSMUST00000033958
AA Change: E404G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: E404G

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 damaging
Transcript: ENSMUST00000171438
AA Change: E404G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: E404G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171611

SMART Domains

Protein: ENSMUSP00000126617
Gene: ENSMUSG00000031553

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	144	2.5e-30	PFAM
Pfam:Reprolysin_5	185	352	6.5e-9	PFAM
Pfam:Reprolysin	187	352	2.1e-54	PFAM
Pfam:Reprolysin_3	211	335	7.1e-9	PFAM

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1a	A	G	4: 133,422,064 (GRCm39)	S778P	unknown	Het
Asah2	A	T	19: 31,983,744 (GRCm39)	Y567N	probably damaging	Het
Crb1	G	T	1: 139,168,996 (GRCm39)	H841N	possibly damaging	Het
Ehbp1l1	A	G	19: 5,765,981 (GRCm39)	V1454A	probably benign	Het
Eif3d	A	G	15: 77,843,843 (GRCm39)	L501P	probably damaging	Het
Fbxo4	A	T	15: 4,007,344 (GRCm39)	S107T	possibly damaging	Het
Galnt10	T	C	11: 57,616,408 (GRCm39)	Y108H	probably damaging	Het
Hspbap1	T	A	16: 35,639,096 (GRCm39)	D263E	probably damaging	Het
Kpna3	T	C	14: 61,608,231 (GRCm39)		probably benign	Het
Miox	A	G	15: 89,220,287 (GRCm39)	T160A	possibly damaging	Het
Mlxipl	G	A	5: 135,161,307 (GRCm39)	V409M	possibly damaging	Het
Mrps21	A	T	3: 95,777,897 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,230,834 (GRCm39)		probably benign	Het
Mup6	A	T	4: 60,003,999 (GRCm39)	I31F	probably damaging	Het
Or52s1	A	G	7: 102,861,904 (GRCm39)	H279R	probably benign	Het
Pabir1	A	C	19: 24,454,316 (GRCm39)	D135E	probably damaging	Het
Pgr	T	A	9: 8,903,665 (GRCm39)	I562N	possibly damaging	Het
Prag1	T	A	8: 36,570,703 (GRCm39)	W429R	probably benign	Het
Prrc2c	G	T	1: 162,504,978 (GRCm39)	P2621Q	probably damaging	Het
Psip1	T	G	4: 83,383,318 (GRCm39)	K232N	probably damaging	Het
Ryr1	T	C	7: 28,770,084 (GRCm39)	Y2663C	probably damaging	Het
Trhr2	T	A	8: 123,085,342 (GRCm39)	Q214L	probably benign	Het
Txndc11	A	T	16: 10,893,151 (GRCm39)	Y860N	probably damaging	Het
Uqcc6	A	T	10: 82,455,950 (GRCm39)		probably benign	Het
Vmn2r72	C	T	7: 85,401,249 (GRCm39)		probably benign	Het
Yif1a	T	A	19: 5,138,757 (GRCm39)	H4Q	possibly 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
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
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

2016-08-02