Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Adam3'

181149

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam3

Ensembl Gene

ENSMUSG00000031553

Gene Name

a disintegrin and metallopeptidase domain 3 (cyritestin)

Synonyms

ADAM3, Taz83, Taz83, Cyrn1, tMDC

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

24677225-24725852 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to T at 24681446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132620 (fasta)

Gene Model

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

AlphaFold

F8VQ03

Predicted Effect

unknown
Transcript: ENSMUST00000033958
AA Change: Q790K

SMART Domains

Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: Q790K

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

noncoding transcript
Transcript: ENSMUST00000158677

Predicted Effect

probably benign
Transcript: ENSMUST00000167431

SMART Domains

Protein: ENSMUSP00000127479
Gene: ENSMUSG00000031553

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

unknown
Transcript: ENSMUST00000171438
AA Change: Q790K

SMART Domains

Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: Q790K

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,044,801	L123Q	probably benign	Het
Abca2	C	T	2: 25,443,095	S1602F	probably benign	Het
Abcc9	C	A	6: 142,605,904	C1191F	probably damaging	Het
Aldh1l1	G	T	6: 90,562,695	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,485,937	N57D	possibly damaging	Het
Asic1	A	T	15: 99,699,101	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,403,898	I233T	probably benign	Het
Ccdc129	A	G	6: 55,968,045	R584G	probably benign	Het
Ccdc185	G	T	1: 182,748,204	Q307K	probably benign	Het
Cep120	T	C	18: 53,723,148	D399G	probably benign	Het
Cnn2	G	A	10: 79,992,554	V122M	probably benign	Het
Dgkd	T	C	1: 87,924,559	S472P	probably damaging	Het
Dock5	A	C	14: 67,812,232	I701S	probably damaging	Het
Efl1	A	G	7: 82,697,976	E570G	probably benign	Het
Eln	G	A	5: 134,718,170		probably benign	Het
Fat2	A	G	11: 55,312,005	V81A	probably benign	Het
Fbxw21	T	G	9: 109,148,156	I162L	probably benign	Het
Fhl2	G	A	1: 43,131,672	Q161*	probably null	Het
Gabrg2	A	G	11: 41,971,721	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm7714	A	G	5: 88,282,442	S66G	probably benign	Het
Grik5	A	T	7: 25,065,182	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,267,434	K156*	probably null	Het
Hecw1	T	C	13: 14,316,310	Y699C	probably benign	Het
Ipo9	A	C	1: 135,408,073	V202G	possibly damaging	Het
Jmjd6	A	T	11: 116,841,358		probably null	Het
Lama5	A	G	2: 180,192,392	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,952,261		probably benign	Het
Mavs	T	C	2: 131,246,605	V443A	probably damaging	Het
Mpdz	A	T	4: 81,286,387	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,638,584	S2059A	probably benign	Het
Olfr1251	A	T	2: 89,667,468	C139*	probably null	Het
Otud7b	G	T	3: 96,155,459	G672C	probably benign	Het
Palld	T	A	8: 61,535,700	T572S	probably benign	Het
Pde6b	T	A	5: 108,423,036	V379E	probably benign	Het
Peak1	A	G	9: 56,258,775	V623A	probably damaging	Het
Prr12	C	T	7: 45,048,659		probably benign	Het
Rxra	T	C	2: 27,754,241	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,377,179	A55V	probably damaging	Het
Slitrk3	T	C	3: 73,051,071	N123D	possibly damaging	Het
Spcs1	A	G	14: 31,000,872	M82T	probably damaging	Het
Sspo	A	G	6: 48,495,182	E113G	probably benign	Het
Syne2	A	G	12: 75,967,220	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,634,660	S310P	probably benign	Het
Ubp1	T	C	9: 113,956,758	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,293,699	C169*	probably null	Het
Vmn1r223	T	A	13: 23,250,237	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 108,995,954	I710N	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr26	A	G	1: 181,211,070		probably benign	Het
Wnt7a	A	G	6: 91,394,663	F106L	probably benign	Het
Zfp940	C	T	7: 29,846,870	V34M	probably damaging	Het

Other mutations in Adam3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Adam3	APN	8	24694278	missense	probably damaging	1.00
IGL01792:Adam3	APN	8	24697203	missense	probably benign	0.27
IGL01894:Adam3	APN	8	24687938	missense	probably benign	0.33
IGL02355:Adam3	APN	8	24697191	missense	probably damaging	1.00
IGL02362:Adam3	APN	8	24697191	missense	probably damaging	1.00
IGL02511:Adam3	APN	8	24695176	missense	probably damaging	0.98
IGL03070:Adam3	APN	8	24703784	missense	probably damaging	1.00
IGL03106:Adam3	APN	8	24715119	splice site	probably benign
IGL03238:Adam3	APN	8	24687965	splice site	probably null
I2288:Adam3	UTSW	8	24684661	missense	probably damaging	1.00
R0511:Adam3	UTSW	8	24695315	missense	probably damaging	1.00
R1103:Adam3	UTSW	8	24714271	splice site	probably benign
R1104:Adam3	UTSW	8	24681529	missense	probably benign	0.10
R1430:Adam3	UTSW	8	24714271	splice site	probably benign
R1599:Adam3	UTSW	8	24725361	missense	possibly damaging	0.50
R1663:Adam3	UTSW	8	24687933	missense	probably benign	0.03
R2023:Adam3	UTSW	8	24689463	missense	possibly damaging	0.93
R2278:Adam3	UTSW	8	24711384	missense	probably damaging	0.99
R3033:Adam3	UTSW	8	24694211	missense	probably benign	0.00
R3440:Adam3	UTSW	8	24680743	utr 3 prime	probably benign
R3441:Adam3	UTSW	8	24680743	utr 3 prime	probably benign
R3688:Adam3	UTSW	8	24703848	missense	probably benign	0.02
R4478:Adam3	UTSW	8	24695155	missense	probably benign	0.04
R4654:Adam3	UTSW	8	24703803	missense	probably damaging	1.00
R4811:Adam3	UTSW	8	24711724	missense	probably benign	0.10
R4910:Adam3	UTSW	8	24694305	missense	probably benign	0.03
R4921:Adam3	UTSW	8	24684614	missense	probably benign	0.01
R4941:Adam3	UTSW	8	24677316	unclassified	probably benign
R5239:Adam3	UTSW	8	24694191	missense	possibly damaging	0.62
R5771:Adam3	UTSW	8	24707411	missense	probably benign	0.00
R5897:Adam3	UTSW	8	24697228	missense	probably benign	0.00
R5916:Adam3	UTSW	8	24684539	critical splice donor site	probably null
R5979:Adam3	UTSW	8	24677367	missense	probably benign	0.03
R6168:Adam3	UTSW	8	24681614	splice site	probably null
R6189:Adam3	UTSW	8	24711336	missense	probably benign	0.01
R6801:Adam3	UTSW	8	24684664	missense	possibly damaging	0.61
R6997:Adam3	UTSW	8	24681523	missense	probably benign	0.10
R7065:Adam3	UTSW	8	24711675	critical splice donor site	probably null
R7074:Adam3	UTSW	8	24694347	missense	probably benign	0.01
R7151:Adam3	UTSW	8	24695255	missense	probably damaging	1.00
R7208:Adam3	UTSW	8	24711401	missense	probably damaging	0.98
R7341:Adam3	UTSW	8	24687980	missense	possibly damaging	0.60
R7528:Adam3	UTSW	8	24677263	missense	unknown
R7797:Adam3	UTSW	8	24694644	missense	probably damaging	1.00
R7891:Adam3	UTSW	8	24707497	critical splice acceptor site	probably null
R8064:Adam3	UTSW	8	24681550	missense	probably benign	0.10
R8157:Adam3	UTSW	8	24707437	missense	probably benign	0.27
R8229:Adam3	UTSW	8	24711738	missense	probably damaging	0.98
R9007:Adam3	UTSW	8	24715111	missense	probably benign	0.02
R9018:Adam3	UTSW	8	24694276	nonsense	probably null
R9098:Adam3	UTSW	8	24689468	missense	probably damaging	1.00
R9110:Adam3	UTSW	8	24703805	missense	probably benign	0.00
R9125:Adam3	UTSW	8	24723501	missense	probably damaging	1.00
R9211:Adam3	UTSW	8	24687894	missense	probably benign	0.08
R9267:Adam3	UTSW	8	24681589	missense	probably benign
R9331:Adam3	UTSW	8	24687935	missense	probably benign	0.01
R9432:Adam3	UTSW	8	24703912	missense	probably damaging	1.00
R9716:Adam3	UTSW	8	24714258	missense	possibly damaging	0.65
X0063:Adam3	UTSW	8	24711706	missense	probably damaging	0.96
Z1088:Adam3	UTSW	8	24681431	utr 3 prime	probably benign

Posted On

2014-05-07