Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Adam3'

481315

Institutional Source

Beutler Lab

Gene Symbol

Adam3

Ensembl Gene

ENSMUSG00000031553

Gene Name

a disintegrin and metallopeptidase domain 3 (cyritestin)

Synonyms

ADAM3, Taz83, Taz83, Cyrn1, tMDC

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24677225-24725852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24677367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 36 (N36S)

Ref Sequence

ENSEMBL: ENSMUSP00000127479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000033958] [ENSMUST00000167431] [ENSMUST00000170318] [ENSMUST00000171438] [ENSMUST00000173833]

AlphaFold

F8VQ03

Predicted Effect

probably benign
Transcript: ENSMUST00000033957

SMART Domains

Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552

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: ENSMUST00000033958

SMART Domains

Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553

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
AA Change: N36S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127479
Gene: ENSMUSG00000031553
AA Change: N36S

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

SMART Domains

Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553

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: 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

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dhx35	G	T	2: 158,842,869	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759		probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463	N851K	probably benign	Het
Smox	G	A	2: 131,516,414	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	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
IGL01941:Adam3	APN	8	24681446	utr 3 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGAGCTGGGATGTGATTG -3'
(R):5'- AATCATAGGCACAGAAGGCC -3'

Sequencing Primer
(F):5'- AGCTTAGAATGCTGATCTCCCTGG -3'
(R):5'- GAGAATGTAGCCTTTCTACTTC -3'

Posted On

2017-06-26