Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Adam7'

539200

Institutional Source

Beutler Lab

Gene Symbol

Adam7

Ensembl Gene

ENSMUSG00000022056

Gene Name

a disintegrin and metallopeptidase domain 7

Synonyms

EAP1

MMRRC Submission

045034-MU

Accession Numbers

Essential gene?

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

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68734785-68771138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68771100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 9 (M9L)

Ref Sequence

ENSEMBL: ENSMUSP00000022640 (fasta)

Gene Model

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

AlphaFold

O35227

Predicted Effect

probably benign
Transcript: ENSMUST00000022640
AA Change: M9L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: M9L

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

0.2189

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Ap1b1	T	C	11: 4,962,972 (GRCm39)	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Cse1l	G	A	2: 166,771,797 (GRCm39)	V353I	possibly damaging	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,607,576 (GRCm39)	T68K	probably damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Mill2	A	G	7: 18,590,351 (GRCm39)	T144A	probably null	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Nup153	A	T	13: 46,853,192 (GRCm39)	S548R	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pde11a	C	A	2: 76,168,084 (GRCm39)	V290F	probably damaging	Het
Pisd	T	C	5: 32,894,773 (GRCm39)	Y511C	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Prkcg	C	T	7: 3,362,335 (GRCm39)	P270S	probably benign	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	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
R4775:Adam7	UTSW	14	68,745,361 (GRCm39)	missense	probably benign	0.41
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
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'- CAATCCAAGCCTGACATTGC -3'
(R):5'- GTGCCAGGTTCATTTCCACC -3'

Sequencing Primer
(F):5'- AGCCTGACATTGCTATCCTCAGAG -3'
(R):5'- AGTACATGATGTTCACCCCTGTG -3'

Posted On

2018-11-06