Mutagenetix > Incidental Mutation

Incidental Mutation 'R4775:Adam7'

367873

Institutional Source

Beutler Lab

Gene Symbol

Adam7

Ensembl Gene

ENSMUSG00000022056

Gene Name

a disintegrin and metallopeptidase domain 7

Synonyms

EAP1

MMRRC Submission

041991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4775 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68734785-68771138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68745361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 621 (I621T)

Ref Sequence

ENSEMBL: ENSMUSP00000022640 (fasta)

Gene Model

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

AlphaFold

O35227

Predicted Effect

probably benign
Transcript: ENSMUST00000022640
AA Change: I621T

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: I621T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128069

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,134,165 (GRCm39)	Y426C	probably damaging	Het
Adamts1	A	T	16: 85,597,278 (GRCm39)	Y260*	probably null	Het
Adgrf1	C	T	17: 43,622,054 (GRCm39)	L764F	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp9b	A	G	18: 80,808,984 (GRCm39)		probably null	Het
C5ar2	A	C	7: 15,971,540 (GRCm39)	L129R	probably damaging	Het
Ccdc174	G	A	6: 91,867,875 (GRCm39)		probably null	Het
Cidec	T	C	6: 113,411,695 (GRCm39)	M1V	probably null	Het
Clec16a	G	T	16: 10,456,778 (GRCm39)	R663L	probably damaging	Het
Col25a1	T	C	3: 129,976,468 (GRCm39)	C118R	possibly damaging	Het
Cox6b2	A	G	7: 4,755,074 (GRCm39)	C67R	probably damaging	Het
Cspg4b	A	T	13: 113,454,229 (GRCm39)	I92F	possibly damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
Dapk1	T	A	13: 60,897,156 (GRCm39)	S792T	probably benign	Het
Dis3l	T	A	9: 64,238,190 (GRCm39)	N101Y	probably benign	Het
Dsg4	A	G	18: 20,604,184 (GRCm39)	T884A	possibly damaging	Het
Dvl1	T	C	4: 155,942,584 (GRCm39)	W617R	probably benign	Het
Eml5	A	G	12: 98,768,566 (GRCm39)	V1503A	probably benign	Het
Engase	A	T	11: 118,373,497 (GRCm39)	D280V	probably benign	Het
F11r	T	C	1: 171,289,209 (GRCm39)	S224P	probably damaging	Het
Fanca	A	G	8: 124,023,045 (GRCm39)	V564A	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gle1	T	C	2: 29,826,073 (GRCm39)	W51R	possibly damaging	Het
Gm94	A	G	18: 43,925,836 (GRCm39)		probably null	Het
Gm9830	A	T	9: 44,375,721 (GRCm39)		noncoding transcript	Het
Gpaa1	T	A	15: 76,218,891 (GRCm39)		probably null	Het
Grin1	C	T	2: 25,182,475 (GRCm39)	A929T	possibly damaging	Het
Grm7	T	A	6: 110,891,332 (GRCm39)	D188E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,970 (GRCm39)	F395L	probably benign	Het
Lipo3	C	A	19: 33,757,795 (GRCm39)	G225C	probably damaging	Het
Lonrf2	T	A	1: 38,857,140 (GRCm39)		probably null	Het
Marveld2	A	G	13: 100,753,303 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,305,777 (GRCm39)	L416P	probably damaging	Het
Mppe1	A	G	18: 67,359,930 (GRCm39)	L312P	possibly damaging	Het
Mpzl3	T	A	9: 44,977,730 (GRCm39)	S113T	probably damaging	Het
Mylk3	G	A	8: 86,085,689 (GRCm39)	Q149*	probably null	Het
Myt1	T	A	2: 181,464,470 (GRCm39)	I968N	probably damaging	Het
Ndc80	A	G	17: 71,821,265 (GRCm39)	Y228H	probably damaging	Het
Nelfcd	T	G	2: 174,268,369 (GRCm39)	C520G	probably damaging	Het
Nfrkb	C	A	9: 31,330,345 (GRCm39)	T1199K	possibly damaging	Het
Nipa2	A	G	7: 55,585,611 (GRCm39)	I109T	probably benign	Het
Nlrp4e	A	G	7: 23,042,525 (GRCm39)	T804A	probably benign	Het
Nsf	A	T	11: 103,763,419 (GRCm39)	I395K	possibly damaging	Het
Nt5c1b	G	A	12: 10,425,449 (GRCm39)	V331I	probably damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or1e29	A	G	11: 73,667,377 (GRCm39)	Y259H	probably damaging	Het
Pask	T	C	1: 93,265,246 (GRCm39)	D3G	probably damaging	Het
Pglyrp3	T	C	3: 91,933,037 (GRCm39)	V110A	possibly damaging	Het
Ppp4r3a	C	T	12: 101,019,825 (GRCm39)	V377M	probably damaging	Het
Prr12	A	G	7: 44,700,749 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,135,922 (GRCm39)		probably null	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rph3a	T	A	5: 121,092,551 (GRCm39)	Y350F	probably benign	Het
Skint4	A	T	4: 111,993,261 (GRCm39)	H328L	probably damaging	Het
Smyd4	G	A	11: 75,282,018 (GRCm39)	C497Y	probably damaging	Het
Stk11ip	T	C	1: 75,510,497 (GRCm39)	W864R	possibly damaging	Het
Stkld1	T	A	2: 26,841,757 (GRCm39)	V543E	probably damaging	Het
Taok2	A	G	7: 126,469,940 (GRCm39)	S963P	probably damaging	Het
Tars2	A	G	3: 95,653,959 (GRCm39)	L354P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn2	A	G	7: 144,821,079 (GRCm39)	L325P	probably damaging	Het
Trappc3l	C	G	10: 33,974,807 (GRCm39)	H96Q	probably benign	Het
Trim66	A	T	7: 109,056,796 (GRCm39)	Y1120*	probably null	Het
Trio	G	A	15: 27,881,428 (GRCm39)	Q548*	probably null	Het
Wipf2	T	A	11: 98,781,558 (GRCm39)	D32E	probably benign	Het

Other mutations in Adam7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:Adam7	APN	14	68,759,387 (GRCm39)	missense	possibly damaging	0.68
IGL01418:Adam7	APN	14	68,762,655 (GRCm39)	missense	probably benign
IGL01934:Adam7	APN	14	68,770,048 (GRCm39)	missense	probably damaging	1.00
IGL02655:Adam7	APN	14	68,754,060 (GRCm39)	missense	probably damaging	1.00
IGL02669:Adam7	APN	14	68,745,343 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Adam7	UTSW	14	68,747,197 (GRCm39)	missense	possibly damaging	0.88
R0195:Adam7	UTSW	14	68,765,076 (GRCm39)	splice site	probably benign
R0277:Adam7	UTSW	14	68,748,306 (GRCm39)	splice site	probably null
R0362:Adam7	UTSW	14	68,747,105 (GRCm39)	splice site	probably benign
R0440:Adam7	UTSW	14	68,748,305 (GRCm39)	splice site	probably null
R0927:Adam7	UTSW	14	68,754,133 (GRCm39)	missense	probably damaging	1.00
R1172:Adam7	UTSW	14	68,752,370 (GRCm39)	missense	probably damaging	1.00
R1270:Adam7	UTSW	14	68,765,118 (GRCm39)	missense	probably damaging	0.98
R1299:Adam7	UTSW	14	68,763,748 (GRCm39)	splice site	probably benign
R1527:Adam7	UTSW	14	68,738,970 (GRCm39)	missense	probably benign	0.04
R1543:Adam7	UTSW	14	68,759,371 (GRCm39)	splice site	probably benign
R1731:Adam7	UTSW	14	68,762,805 (GRCm39)	missense	probably damaging	1.00
R1732:Adam7	UTSW	14	68,735,899 (GRCm39)	missense	probably benign	0.00
R1921:Adam7	UTSW	14	68,750,074 (GRCm39)	missense	possibly damaging	0.55
R2062:Adam7	UTSW	14	68,742,610 (GRCm39)	missense	probably benign	0.09
R2156:Adam7	UTSW	14	68,748,792 (GRCm39)	missense	probably benign	0.02
R2353:Adam7	UTSW	14	68,742,537 (GRCm39)	missense	probably benign	0.01
R2697:Adam7	UTSW	14	68,752,232 (GRCm39)	nonsense	probably null
R4080:Adam7	UTSW	14	68,757,988 (GRCm39)	missense	probably benign	0.05
R5202:Adam7	UTSW	14	68,745,305 (GRCm39)	missense	possibly damaging	0.92
R6006:Adam7	UTSW	14	68,748,845 (GRCm39)	missense	probably damaging	1.00
R6087:Adam7	UTSW	14	68,748,206 (GRCm39)	missense	probably damaging	1.00
R6376:Adam7	UTSW	14	68,742,546 (GRCm39)	missense	possibly damaging	0.78
R6417:Adam7	UTSW	14	68,742,070 (GRCm39)	missense	probably benign	0.37
R6672:Adam7	UTSW	14	68,742,151 (GRCm39)	critical splice acceptor site	probably null
R6756:Adam7	UTSW	14	68,762,728 (GRCm39)	missense	probably benign	0.00
R6777:Adam7	UTSW	14	68,762,784 (GRCm39)	missense	probably damaging	1.00
R6913:Adam7	UTSW	14	68,771,100 (GRCm39)	missense	probably benign	0.22
R7127:Adam7	UTSW	14	68,752,218 (GRCm39)	critical splice donor site	probably null
R7209:Adam7	UTSW	14	68,767,268 (GRCm39)	missense	probably damaging	1.00
R7399:Adam7	UTSW	14	68,741,915 (GRCm39)	splice site	probably null
R7675:Adam7	UTSW	14	68,737,302 (GRCm39)	missense	probably benign	0.07
R7788:Adam7	UTSW	14	68,750,094 (GRCm39)	missense	possibly damaging	0.62
R7868:Adam7	UTSW	14	68,770,090 (GRCm39)	missense	possibly damaging	0.84
R8135:Adam7	UTSW	14	68,754,022 (GRCm39)	missense	probably damaging	1.00
R8281:Adam7	UTSW	14	68,745,334 (GRCm39)	missense	possibly damaging	0.65
R8507:Adam7	UTSW	14	68,763,773 (GRCm39)	missense	probably damaging	1.00
R9049:Adam7	UTSW	14	68,762,674 (GRCm39)	missense	probably benign	0.01
R9240:Adam7	UTSW	14	68,747,208 (GRCm39)	missense	probably benign	0.02
R9429:Adam7	UTSW	14	68,771,080 (GRCm39)	missense	probably null
R9744:Adam7	UTSW	14	68,742,583 (GRCm39)	missense	probably benign	0.00
Z1176:Adam7	UTSW	14	68,765,150 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GACTTTTGGGATAGCATTGGAAATG -3'
(R):5'- TGTCTCTGTTGTGGAAGCAACC -3'

Sequencing Primer
(F):5'- TTGGGATAGCATTGGAAATGTAAATG -3'
(R):5'- GGAAGCAACCTGTCCTAGTATTGC -3'

Posted On

2015-12-29