Mutagenetix > Incidental Mutation

Incidental Mutation 'R3440:Adam3'

267352

Institutional Source

Beutler Lab

Gene Symbol

Adam3

Ensembl Gene

ENSMUSG00000031553

Gene Name

ADAM metallopeptidase domain 3

Synonyms

Taz83, tMDC, Taz83, Cyrn1, ADAM3

MMRRC Submission

040658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3440 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25167241-25215868 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 25170759 bp (GRCm39)

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: E815G

SMART Domains

Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
AA Change: E815G

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: E815G

SMART Domains

Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553
AA Change: E815G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (29/30)

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
Abtb2	C	A	2: 103,397,577 (GRCm39)	A169E	probably benign	Het
Agmo	C	T	12: 37,293,799 (GRCm39)	T74I	probably damaging	Het
Ano6	T	C	15: 95,865,602 (GRCm39)	V862A	probably damaging	Het
Bltp1	C	T	3: 37,096,061 (GRCm39)	Q4614*	probably null	Het
Cavin2	T	A	1: 51,340,565 (GRCm39)	V414E	probably damaging	Het
Clrn3	A	C	7: 135,115,854 (GRCm39)	Y165*	probably null	Het
Cp	A	T	3: 20,029,121 (GRCm39)	M533L	probably benign	Het
Dhrs3	T	A	4: 144,646,628 (GRCm39)	M226K	probably damaging	Het
Fignl2	A	G	15: 100,951,004 (GRCm39)	F426S	unknown	Het
Fpr1	C	T	17: 18,097,420 (GRCm39)	D190N	probably benign	Het
Grik3	C	A	4: 125,587,763 (GRCm39)	L628M	probably damaging	Het
Grik3	T	A	4: 125,587,764 (GRCm39)	L628Q	probably damaging	Het
Grin2c	T	A	11: 115,141,469 (GRCm39)	D883V	probably damaging	Het
Gtf3c6	T	A	10: 40,127,169 (GRCm39)	E123V	probably null	Het
H2-Eb1	A	G	17: 34,528,655 (GRCm39)	E62G	probably damaging	Het
Kif1a	C	T	1: 92,964,575 (GRCm39)	D1334N	possibly damaging	Het
Lef1	A	G	3: 130,978,407 (GRCm39)	D175G	probably damaging	Het
Myom1	A	G	17: 71,352,658 (GRCm39)		probably null	Het
Or6k2	A	T	1: 173,986,746 (GRCm39)	M136L	probably benign	Het
Pgr	A	T	9: 8,922,630 (GRCm39)	N600I	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Selp	T	C	1: 163,951,344 (GRCm39)	F26S	probably benign	Het
Tchh	A	T	3: 93,352,414 (GRCm39)	D618V	unknown	Het
Tenm4	A	T	7: 96,202,723 (GRCm39)	M88L	probably benign	Het
Zfat	A	T	15: 67,956,402 (GRCm39)	D1143E	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCAAAACAAAGTCCATAGCAAGTG -3'
(R):5'- TTTTCAGGGAATGTCAGGGAATC -3'

Sequencing Primer
(F):5'- CAAGTGCTTTCTGTTGGCTGC -3'
(R):5'- CTTTGCAATGCCTCTAGG -3'

Posted On

2015-02-18