Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Adam7'

596118

Institutional Source

Beutler Lab

Gene Symbol

Adam7

Ensembl Gene

ENSMUSG00000022056

Gene Name

a disintegrin and metallopeptidase domain 7

Synonyms

EAP1

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7399 (G1)

Quality Score

90.0077

Status

Validated

Chromosome

Chromosomal Location

68497336-68533741 bp(-) (GRCm38)

Type of Mutation

splice site (135 bp from exon)

DNA Base Change (assembly)

A to T at 68504466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022640 (fasta)

Gene Model

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

AlphaFold

O35227

Predicted Effect

probably null
Transcript: ENSMUST00000022640

SMART Domains

Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Arfgef1	T	A	1: 10,180,897	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C87499	C	A	4: 88,627,965	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483	H639N	probably damaging	Het
Dnah11	T	G	12: 118,027,477	T2385P	probably benign	Het
Dnah11	T	C	12: 118,125,785	E1182G	probably damaging	Het
Dok7	T	C	5: 35,066,471	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hnmt	T	A	2: 24,003,880	T201S	probably benign	Het
Jup	G	T	11: 100,378,351	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090	D239N		Het
Mgam	T	A	6: 40,666,854	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557		probably benign	Het
Olfr996	A	G	2: 85,579,296	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232		probably null	Het
Ptprf	C	T	4: 118,226,523	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286		probably null	Het
Scn5a	A	T	9: 119,486,530	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068	C538S	probably benign	Het
Spert	A	G	14: 75,592,637	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647		probably null	Het
Strip2	T	A	6: 29,927,613	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657		probably benign	Het
Vmn1r42	T	C	6: 89,845,513	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503		probably null	Het
Wdfy4	A	C	14: 33,068,906	V2188G		Het
Zfp623	T	C	15: 75,947,398	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053	V536L	probably damaging	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
R4080:Adam7	UTSW	14	68520539	missense	probably benign	0.05
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
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
R9049:Adam7	UTSW	14	68525225	missense	probably benign	0.01
R9240:Adam7	UTSW	14	68509759	missense	probably benign	0.02
R9429:Adam7	UTSW	14	68533631	missense	probably null
R9744:Adam7	UTSW	14	68505134	missense	probably benign	0.00
Z1176:Adam7	UTSW	14	68527701	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TCCACTTGGCTTAGCTTAGGG -3'
(R):5'- GAGGAGTGAGCCAATCTTGACC -3'

Sequencing Primer
(F):5'- TCTATTTGCCAGAGAGATGAAGCC -3'
(R):5'- GAGTGAGCCAATCTTGACCGATATC -3'

Posted On

2019-11-18