Mutagenetix > Incidental Mutation

Incidental Mutation 'R7341:Adam3'

569863

Institutional Source

Beutler Lab

Gene Symbol

Adam3

Ensembl Gene

ENSMUSG00000031553

Gene Name

ADAM metallopeptidase domain 3

Synonyms

Taz83, tMDC, Taz83, Cyrn1, ADAM3

MMRRC Submission

045431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25167241-25215868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25177996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 639 (N639I)

Ref Sequence

ENSEMBL: ENSMUSP00000033958 (fasta)

Gene Model

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

AlphaFold

F8VQ03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033958
AA Change: N639I

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: N639I

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

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

possibly damaging
Transcript: ENSMUST00000171438
AA Change: N639I

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: N639I

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adamtsl3	T	A	7: 82,206,082 (GRCm39)	C756S	probably damaging	Het
Arhgap31	C	T	16: 38,532,876 (GRCm39)		probably null	Het
Ascl4	G	A	10: 85,764,529 (GRCm39)	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,889,066 (GRCm39)	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330 (GRCm39)	D206G	possibly damaging	Het
Baz1b	T	A	5: 135,251,970 (GRCm39)	L923I	probably damaging	Het
Birc6	T	A	17: 74,919,069 (GRCm39)	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,946,200 (GRCm39)	N3025S	probably benign	Het
Bub1b	C	A	2: 118,467,267 (GRCm39)	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,554,411 (GRCm39)	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644 (GRCm39)	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,014,552 (GRCm39)	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,837,610 (GRCm39)	N437K	probably benign	Het
Cdhr2	T	A	13: 54,867,305 (GRCm39)	L408Q	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chd1	T	C	17: 15,990,499 (GRCm39)	S1684P	probably damaging	Het
CN725425	A	G	15: 91,126,873 (GRCm39)	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,448,678 (GRCm39)	V66A	probably damaging	Het
Cpd	C	A	11: 76,737,779 (GRCm39)	R5L	unknown	Het
Cpeb4	C	T	11: 31,868,807 (GRCm39)	T422I	possibly damaging	Het
Cspg4b	G	T	13: 113,454,706 (GRCm39)	G251C		Het
Cyp1a1	G	T	9: 57,608,107 (GRCm39)	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,705,928 (GRCm39)	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,774,787 (GRCm39)	F122L	probably benign	Het
Drc1	T	A	5: 30,521,812 (GRCm39)	L728Q	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Ecpas	A	T	4: 58,809,415 (GRCm39)	V1653D	possibly damaging	Het
Ermp1	T	A	19: 29,623,654 (GRCm39)	H112L	probably benign	Het
Exoc8	T	C	8: 125,623,320 (GRCm39)	D349G	probably damaging	Het
Fam151a	T	A	4: 106,592,707 (GRCm39)	M63K	probably benign	Het
Fmo9	C	A	1: 166,504,115 (GRCm39)	G149V	probably damaging	Het
Fndc8	A	G	11: 82,789,603 (GRCm39)	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,937,862 (GRCm39)	V365I	probably benign	Het
Frem2	C	T	3: 53,561,916 (GRCm39)	G864S	probably damaging	Het
Fstl5	T	A	3: 76,389,704 (GRCm39)		probably null	Het
Garnl3	T	A	2: 32,924,141 (GRCm39)	E247V	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gorasp1	T	A	9: 119,766,600 (GRCm39)		probably benign	Het
Hcar2	T	C	5: 124,002,541 (GRCm39)	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,190,395 (GRCm39)	M131I	probably damaging	Het
Kif13a	A	G	13: 46,980,221 (GRCm39)	V177A	probably damaging	Het
Limch1	C	T	5: 67,191,545 (GRCm39)	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,906 (GRCm39)	Y260C	possibly damaging	Het
Lmo7	A	G	14: 102,122,948 (GRCm39)	N379S	probably benign	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,598,711 (GRCm39)	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,755,133 (GRCm39)	Y303H	probably damaging	Het
Mecr	T	G	4: 131,570,986 (GRCm39)	V58G	probably null	Het
Med12l	T	A	3: 58,949,824 (GRCm39)	D193E	possibly damaging	Het
Moap1	T	C	12: 102,709,438 (GRCm39)	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Ndufs5	A	T	4: 123,609,744 (GRCm39)	C43*	probably null	Het
Oaz2	A	T	9: 65,596,183 (GRCm39)	D83V		Het
Or2t29	A	T	11: 58,433,533 (GRCm39)	Y269*	probably null	Het
Or5ac22	T	A	16: 59,135,512 (GRCm39)	N86I	possibly damaging	Het
Palm	A	G	10: 79,652,697 (GRCm39)	T191A	probably damaging	Het
Pclo	C	A	5: 14,725,850 (GRCm39)	D1569E	unknown	Het
Ppid	T	A	3: 79,507,604 (GRCm39)	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,749 (GRCm39)	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,321,619 (GRCm39)	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,161,827 (GRCm39)	T68A	probably benign	Het
Rbm15b	C	T	9: 106,762,246 (GRCm39)	G641R	probably benign	Het
Rgsl1	A	G	1: 153,669,591 (GRCm39)	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837 (GRCm39)	Y98*	probably null	Het
Sfxn3	T	G	19: 45,037,701 (GRCm39)	N52K	probably benign	Het
Slc17a3	G	T	13: 24,030,867 (GRCm39)	G182*	probably null	Het
Slc29a3	A	T	10: 60,586,437 (GRCm39)	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,693,278 (GRCm39)	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,800,435 (GRCm39)	I210F	possibly damaging	Het
Snapc4	A	T	2: 26,259,273 (GRCm39)	S626T	probably benign	Het
Sp5	T	A	2: 70,307,041 (GRCm39)	L242*	probably null	Het
Spata25	C	G	2: 164,669,582 (GRCm39)	G143A	probably damaging	Het
Spata6	T	A	4: 111,625,935 (GRCm39)	Y101*	probably null	Het
Tdp2	T	G	13: 25,016,059 (GRCm39)	S89A	probably benign	Het
Tlr6	T	C	5: 65,110,972 (GRCm39)	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,794 (GRCm39)	I355V	probably benign	Het
Trappc8	A	T	18: 20,985,704 (GRCm39)	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,657,205 (GRCm39)	N399S	probably damaging	Het
Ube4b	A	G	4: 149,427,458 (GRCm39)	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,315,759 (GRCm39)		probably null	Het
Vmn2r1	T	C	3: 64,012,877 (GRCm39)	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,234,113 (GRCm39)	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,811 (GRCm39)	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,953,725 (GRCm39)	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,868,395 (GRCm39)	M442K	possibly damaging	Het
Ydjc	T	C	16: 16,968,762 (GRCm39)	C234R	probably benign	Het
Zfp87	A	G	13: 74,520,467 (GRCm39)	Y204H	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGCCTCACTTCTACACGTG -3'
(R):5'- CGGACAAGCATATTAATTGCACAAG -3'

Sequencing Primer
(F):5'- AAGTGTCAAGTCTTAGATGGCCAC -3'
(R):5'- CAAGCATATTAATTGCACAAGTATCC -3'

Posted On

2019-09-13