Mutagenetix > Incidental Mutations

Incidental Mutation 'R4080:Adam7'

316837

Institutional Source

Beutler Lab

Gene Symbol

Adam7

Ensembl Gene

ENSMUSG00000022056

Gene Name

a disintegrin and metallopeptidase domain 7

Synonyms

EAP1

MMRRC Submission

040856-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68497336-68533741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68520539 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 245 (T245A)

Ref Sequence

ENSEMBL: ENSMUSP00000022640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022640]

Predicted Effect

probably benign
Transcript: ENSMUST00000022640
AA Change: T245A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: T245A

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	25	156	1.6e-28	PFAM
Pfam:Reprolysin_5	197	378	1.2e-12	PFAM
Pfam:Reprolysin_4	197	382	2.6e-12	PFAM
Pfam:Reprolysin	199	393	1.3e-70	PFAM
Pfam:Reprolysin_2	219	383	1.1e-9	PFAM
Pfam:Reprolysin_3	223	346	9.5e-14	PFAM
DISIN	410	485	8.79e-30	SMART
ACR	486	623	3.51e-58	SMART
transmembrane domain	667	689	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is specifically expressed in epididymis where the encoded protein is transferred to the sperm surface during epididymal transit. This gene is located adjacent to a related gene from the ADAM family of proteins on chromosome 14. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with decreased cell height in caput epididymis, spermatic granuloma, kinked sperm flagellum and reduced sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	G	T	12: 55,304,613	V236F	possibly damaging	Het
Aass	A	T	6: 23,109,498	D324E	possibly damaging	Het
Adgrf3	G	A	5: 30,197,369	Q554*	probably null	Het
Aim2	T	C	1: 173,459,851		probably null	Het
Arhgef1	G	T	7: 24,925,846	D850Y	probably damaging	Het
Aspm	C	A	1: 139,470,755	Q1024K	probably damaging	Het
C7	T	C	15: 4,990,464	S734G	probably benign	Het
Ccdc158	A	T	5: 92,623,396	S987T	probably benign	Het
Chrna2	G	T	14: 66,143,417	G45V	probably benign	Het
Chrna2	C	A	14: 66,143,424	Y47*	probably null	Het
Clec2g	C	A	6: 128,981,324	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,101,574	S253G	probably benign	Het
Cttn	T	A	7: 144,457,724	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,802,529	V286A	probably benign	Het
Dcbld2	T	A	16: 58,465,373	S632T	probably damaging	Het
Dscam	A	T	16: 96,683,772	N1118K	probably benign	Het
Eif2a	C	T	3: 58,539,629	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382	C1068S	probably benign	Het
Fstl1	G	A	16: 37,822,603	V110I	probably benign	Het
Gpat2	T	C	2: 127,433,622	I465T	probably damaging	Het
Gpr137	C	T	19: 6,940,423		probably benign	Het
Hgsnat	A	G	8: 25,946,343	I561T	probably benign	Het
Ift74	T	A	4: 94,652,912		probably null	Het
Ilf3	A	G	9: 21,403,134		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrrc41	C	A	4: 116,080,546		probably null	Het
Myh11	C	A	16: 14,224,059	R700L	possibly damaging	Het
Myo16	A	G	8: 10,562,240	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,740,488	M1488V	probably benign	Het
Naip6	A	T	13: 100,299,307	Y903N	probably damaging	Het
Nek6	A	G	2: 38,550,637	H19R	probably damaging	Het
Nktr	A	C	9: 121,741,126	T127P	probably damaging	Het
Noc4l	A	T	5: 110,649,872	D335E	probably benign	Het
Nsd1	A	G	13: 55,301,809	D1993G	probably damaging	Het
Olfr1377	G	A	11: 50,984,856	D52N	probably damaging	Het
Olfr190	A	T	16: 59,074,256	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,775,530	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,685,779	D127V	probably damaging	Het
Phrf1	T	C	7: 141,259,720		probably benign	Het
Phtf2	T	A	5: 20,813,296	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,577,981	R1200L	probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prss12	A	G	3: 123,485,485	N404D	probably benign	Het
Ptch2	C	G	4: 117,111,206	A926G	probably damaging	Het
Ptpa	T	C	2: 30,443,305	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293	I853T	possibly damaging	Het
Reep6	G	A	10: 80,330,162		probably benign	Het
Rex2	T	A	4: 147,058,697	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,076	E55K	probably damaging	Het
Rtl6	T	C	15: 84,557,001	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,277,795	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,431,519	S505G	probably benign	Het
Scube1	T	G	15: 83,608,747	Q904P	probably damaging	Het
Sis	T	C	3: 72,921,184	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,214,066	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,998,581	E200G	probably damaging	Het
Stard13	C	A	5: 151,092,829		probably null	Het
Sybu	T	C	15: 44,718,943	K95R	probably damaging	Het
Trappc9	T	A	15: 72,941,947	D488V	probably damaging	Het
Txk	G	A	5: 72,700,663	P381S	probably damaging	Het
Ubr2	A	T	17: 46,988,722	M198K	probably benign	Het
Unc5a	A	T	13: 55,004,481	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,941,959	R231Q	probably damaging	Het
Wfdc1	T	A	8: 119,683,793		probably null	Het
Zfp667	T	G	7: 6,305,106	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,233	R823H	probably benign	Het

Other mutations in Adam7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:Adam7	APN	14	68521938	missense	possibly damaging	0.68
IGL01418:Adam7	APN	14	68525206	missense	probably benign
IGL01934:Adam7	APN	14	68532599	missense	probably damaging	1.00
IGL02655:Adam7	APN	14	68516611	missense	probably damaging	1.00
IGL02669:Adam7	APN	14	68507894	missense	probably damaging	1.00
PIT4445001:Adam7	UTSW	14	68509748	missense	possibly damaging	0.88
R0195:Adam7	UTSW	14	68527627	splice site	probably benign
R0277:Adam7	UTSW	14	68510857	splice site	probably null
R0362:Adam7	UTSW	14	68509656	splice site	probably benign
R0440:Adam7	UTSW	14	68510856	splice site	probably null
R0927:Adam7	UTSW	14	68516684	missense	probably damaging	1.00
R1172:Adam7	UTSW	14	68514921	missense	probably damaging	1.00
R1270:Adam7	UTSW	14	68527669	missense	probably damaging	0.98
R1299:Adam7	UTSW	14	68526299	splice site	probably benign
R1527:Adam7	UTSW	14	68501521	missense	probably benign	0.04
R1543:Adam7	UTSW	14	68521922	splice site	probably benign
R1731:Adam7	UTSW	14	68525356	missense	probably damaging	1.00
R1732:Adam7	UTSW	14	68498450	missense	probably benign	0.00
R1921:Adam7	UTSW	14	68512625	missense	possibly damaging	0.55
R2062:Adam7	UTSW	14	68505161	missense	probably benign	0.09
R2156:Adam7	UTSW	14	68511343	missense	probably benign	0.02
R2353:Adam7	UTSW	14	68505088	missense	probably benign	0.01
R2697:Adam7	UTSW	14	68514783	nonsense	probably null
R4775:Adam7	UTSW	14	68507912	missense	probably benign	0.41
R5202:Adam7	UTSW	14	68507856	missense	possibly damaging	0.92
R6006:Adam7	UTSW	14	68511396	missense	probably damaging	1.00
R6087:Adam7	UTSW	14	68510757	missense	probably damaging	1.00
R6376:Adam7	UTSW	14	68505097	missense	possibly damaging	0.78
R6417:Adam7	UTSW	14	68504621	missense	probably benign	0.37
R6672:Adam7	UTSW	14	68504702	critical splice acceptor site	probably null
R6756:Adam7	UTSW	14	68525279	missense	probably benign	0.00
R6777:Adam7	UTSW	14	68525335	missense	probably damaging	1.00
R6913:Adam7	UTSW	14	68533651	missense	probably benign	0.22
R7127:Adam7	UTSW	14	68514769	critical splice donor site	probably null
R7209:Adam7	UTSW	14	68529819	missense	probably damaging	1.00
R7399:Adam7	UTSW	14	68504466	splice site	probably null
R7675:Adam7	UTSW	14	68499853	missense	probably benign	0.07
R7788:Adam7	UTSW	14	68512645	missense	possibly damaging	0.62
R7868:Adam7	UTSW	14	68532641	missense	possibly damaging	0.84
R8135:Adam7	UTSW	14	68516573	missense	probably damaging	1.00
R8281:Adam7	UTSW	14	68507885	missense	possibly damaging	0.65
R8507:Adam7	UTSW	14	68526324	missense	probably damaging	1.00
Z1176:Adam7	UTSW	14	68527701	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- ACAAAGGCAATTTCTCAAGTCC -3'
(R):5'- TGCCCTCTCTATGCTAAGATTAAGG -3'

Sequencing Primer
(F):5'- AGGCAATTTCTCAAGTCCTATTTTG -3'
(R):5'- AAACAAAGGCTGTGCTATAT -3'

Posted On

2015-05-15